FLNA (filamin A)

Gene

• Entrez ID: 2316
• Gene name: Filamin A
• Gene symbol: FLNA
• Synonyms (NCBI Gene): ABP-280, ABPX, CSBS, CVD1, FGS2, FLN, FLN-A, FLN1, FMD, MNS, NHBP, OPD, OPD1, OPD2, XLVD, XMVD
• Chromosome: X
• Chromosome location: Xq28
• Summary: The protein encoded by this gene is an actin-binding protein that crosslinks actin filaments and links actin filaments to membrane glycoproteins. The encoded protein is involved in remodeling the cytoskeleton to effect changes in cell shape and migration.

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28935169	T>A	Pathogenic	Coding sequence variant, missense variant
rs28935469	G>A	Pathogenic	Coding sequence variant, missense variant
rs28935470	C>T	Pathogenic	Coding sequence variant, missense variant
rs28935471	T>G	Pathogenic	Coding sequence variant, missense variant
rs28935472	C>T	Pathogenic	Coding sequence variant, missense variant
rs28935473	G>A	Pathogenic	Coding sequence variant, missense variant
rs56102764	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, missense variant
rs61730768	G>A	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, missense variant
rs80338837	G>T	Pathogenic	Coding sequence variant, missense variant
rs80338840	GT>-	Pathogenic	Coding sequence variant, frameshift variant
rs80338841	G>A	Pathogenic	Coding sequence variant, synonymous variant
rs112363874	T>A,G	Likely-pathogenic	Splice acceptor variant
rs137853310	G>A	Pathogenic	Coding sequence variant, stop gained
rs137853311	G>A	Pathogenic	Coding sequence variant, missense variant
rs137853312	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs137853313	G>C	Pathogenic	Coding sequence variant, missense variant
rs137853314	C>A	Pathogenic	Coding sequence variant, missense variant
rs137853315	G>A	Pathogenic	Coding sequence variant, missense variant
rs137853316	C>A	Pathogenic	Coding sequence variant, missense variant
rs137853317	G>A	Pathogenic, uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs137853318	C>A	Pathogenic	Coding sequence variant, missense variant
rs137853319	G>A	Pathogenic, benign	Coding sequence variant, missense variant
rs182074603	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs186214592	G>A,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs188212919	G>A	Conflicting-interpretations-of-pathogenicity, benign	Synonymous variant, coding sequence variant
rs199530601	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs199565118	G>T	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Intron variant
rs199853721	G>A	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign	Synonymous variant, coding sequence variant
rs199911951	C>A,T	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Missense variant, coding sequence variant
rs200048692	G>A	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Synonymous variant, coding sequence variant
rs200053635	G>A	Conflicting-interpretations-of-pathogenicity, benign, not-provided, likely-benign	Missense variant, coding sequence variant
rs200130356	T>C	Benign-likely-benign, uncertain-significance, benign, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs200200745	G>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs200278701	C>T	Benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Synonymous variant, coding sequence variant
rs200524526	C>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs200626788	C>A,G	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs200660642	G>A	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Synonymous variant, coding sequence variant
rs201093148	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs201153928	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs202029322	G>A	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Missense variant, coding sequence variant
rs267606815	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs267606816	C>T	Pathogenic	Missense variant, coding sequence variant
rs267606817	A>T	Pathogenic	Missense variant, coding sequence variant
rs367674709	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs370196495	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs370202395	C>G,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs370490152	C>A,T	Likely-pathogenic, likely-benign	Missense variant, coding sequence variant, stop gained
rs370491691	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs370868704	C>T	Conflicting-interpretations-of-pathogenicity, benign	Synonymous variant, coding sequence variant
rs371501734	G>A	Conflicting-interpretations-of-pathogenicity, benign	Synonymous variant, coding sequence variant
rs375205247	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs375503410	G>A,C	Likely-benign, likely-pathogenic, benign	Synonymous variant, stop gained, coding sequence variant
rs376461465	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs376774130	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs387907371	C>T	Pathogenic	Synonymous variant, coding sequence variant
rs398122521	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs398123614	G>A	Pathogenic	Stop gained, coding sequence variant
rs398123616	->G	Pathogenic	Frameshift variant, coding sequence variant
rs398123617	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs398123619	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs398123620	->AT	Pathogenic	Frameshift variant, coding sequence variant
rs398123621	GA>TT	Pathogenic	Stop gained, coding sequence variant
rs398123622	G>C	Uncertain-significance, pathogenic	Intron variant
rs587780335	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs727503931	G>A,C	Pathogenic	Missense variant, stop gained, coding sequence variant
rs781910090	G>A,C	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs782121971	G>A,C	Likely-pathogenic	Stop gained, coding sequence variant, synonymous variant
rs782129236	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs782168634	G>A,T	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs782308324	G>A,C,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant, missense variant
rs782358007	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs782426283	G>A	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign, likely-pathogenic	Coding sequence variant, missense variant
rs782518956	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs782555986	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs782591917	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs782669943	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs782670288	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs782739586	C>T	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs782774182	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs782806731	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs786200973	->TT	Pathogenic	Frameshift variant, coding sequence variant
rs786205177	C>A	Pathogenic	Splice acceptor variant
rs786205178	ACTG>-	Pathogenic	Frameshift variant, coding sequence variant
rs786205180	CTTAT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs786205181	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs786205182	A>T	Likely-pathogenic	Stop gained, coding sequence variant
rs786205183	T>C	Pathogenic	Splice acceptor variant
rs786205186	C>G,T	Pathogenic	Splice donor variant
rs786205188	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs786205189	->ACGGGCCTTGACGT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs786205190	->TCCTGGAGGAGTGCAG	Likely-pathogenic	Intron variant, splice acceptor variant, coding sequence variant
rs786205191	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs786205194	GC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs786205197	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs786205198	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs786205199	CA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs786205201	TT>-	Pathogenic	Frameshift variant, coding sequence variant
rs786205202	C>A	Likely-pathogenic	Stop gained, coding sequence variant
rs786205203	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs786205204	C>T	Likely-pathogenic	Splice donor variant
rs797044690	ACGTTGAGG>GCCA	Pathogenic	Frameshift variant, coding sequence variant
rs797044724	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs797045044	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs797045163	C>G	Pathogenic	Missense variant, coding sequence variant
rs863223295	A>G	Pathogenic	Splice donor variant
rs863223296	C>T	Pathogenic	Splice donor variant
rs863223297	GGCCG>-	Pathogenic	Frameshift variant, coding sequence variant
rs863223298	GCACGCACG>-	Pathogenic	Inframe deletion, coding sequence variant
rs863223299	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs863223630	AAGT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs863223632	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs863223633	->ACCC	Pathogenic	Frameshift variant, coding sequence variant
rs863223634	->G	Pathogenic	Frameshift variant, coding sequence variant
rs863223645	->G	Pathogenic	Frameshift variant, coding sequence variant
rs863223646	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs886038987	ATGTTGCC>-	Pathogenic	Frameshift variant, coding sequence variant
rs886041710	CCGTCTCTGAGAT>-	Pathogenic	Frameshift variant, coding sequence variant
rs886041771	G>A	Pathogenic	Stop gained, coding sequence variant
rs886044791	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs886044824	G>A	Pathogenic	Stop gained, coding sequence variant
rs886044850	T>C	Pathogenic	Splice acceptor variant
rs1057515582	->TT	Pathogenic	Frameshift variant, coding sequence variant
rs1057515583	->TT	Pathogenic	Frameshift variant, coding sequence variant
rs1057515584	->ACAG	Pathogenic	Frameshift variant, coding sequence variant
rs1057516198	G>A	Pathogenic	Coding sequence variant, stop gained
rs1057518109	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518223	C>T	Pathogenic-likely-pathogenic	Splice acceptor variant
rs1057518626	C>-	Pathogenic	Coding sequence variant, splice acceptor variant
rs1057524378	A>G	Likely-pathogenic	Splice donor variant
rs1060500716	G>A	Pathogenic	Missense variant, coding sequence variant
rs1060500717	G>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained
rs1060500718	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064795350	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1064795854	CC>T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1064796297	T>C	Likely-pathogenic	Splice acceptor variant
rs1064796581	T>C	Pathogenic	Splice acceptor variant
rs1131691935	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1461148946	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1557175424	C>T	Likely-pathogenic	Splice donor variant
rs1557175789	T>A	Likely-pathogenic	Intron variant
rs1557176001	G>C	Pathogenic	Stop gained, coding sequence variant
rs1557176076	T>C	Pathogenic	Splice acceptor variant
rs1557176315	C>G	Likely-pathogenic	Splice donor variant
rs1557177086	GTGTAGCGACCTG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1557177279	TTACCTCC>-	Likely-pathogenic	Intron variant, coding sequence variant, splice donor variant
rs1557177485	C>A	Likely-pathogenic	Splice acceptor variant
rs1557177623	C>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs1557177636	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1557177663	G>A	Pathogenic	Stop gained, coding sequence variant
rs1557177738	C>A	Pathogenic	Stop gained, coding sequence variant
rs1557178535	A>T	Pathogenic	Intron variant
rs1557178694	->T	Likely-pathogenic	Intron variant
rs1557179325	C>T	Pathogenic	Synonymous variant, coding sequence variant
rs1557179349	GA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1557179357	->TATTGGCGGT	Pathogenic	Stop gained, coding sequence variant, inframe indel
rs1557179536	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1557179659	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1557179684	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1557180206	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1557180226	T>C	Pathogenic	Missense variant, coding sequence variant
rs1569551449	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1569551475	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569551502	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569551736	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569551783	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569551861	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs1603358919	G>A	Pathogenic	Coding sequence variant, stop gained
rs1603359091	C>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1603359205	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1603359417	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1603359464	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1603360542	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1603360547	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1603360906	C>T	Likely-pathogenic	Splice donor variant
rs1603361195	GGCCCAGGC>CCGA	Pathogenic	Coding sequence variant, frameshift variant
rs1603361851	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1603362402	C>G	Pathogenic	Splice acceptor variant
rs1603362871	CT>-	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020648	hsa-miR-155-5p	Proteomics	18668040
MIRT023757	hsa-miR-1-3p	Proteomics	18668040
MIRT023757	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT025777	hsa-miR-7-5p	Microarray	19073608
MIRT052184	hsa-let-7b-5p	CLASH	23622248
MIRT051288	hsa-miR-16-5p	CLASH	23622248
MIRT050582	hsa-miR-20a-5p	CLASH	23622248
MIRT050388	hsa-miR-23a-3p	CLASH	23622248
MIRT049870	hsa-miR-31-5p	CLASH	23622248
MIRT049560	hsa-miR-92a-3p	CLASH	23622248
MIRT049560	hsa-miR-92a-3p	CLASH	23622248
MIRT049560	hsa-miR-92a-3p	CLASH	23622248
MIRT048229	hsa-miR-196a-5p	CLASH	23622248
MIRT046888	hsa-miR-221-3p	CLASH	23622248
MIRT046811	hsa-miR-222-3p	CLASH	23622248
MIRT046250	hsa-miR-23b-3p	CLASH	23622248
MIRT046250	hsa-miR-23b-3p	CLASH	23622248
MIRT045578	hsa-miR-149-5p	CLASH	23622248
MIRT045578	hsa-miR-149-5p	CLASH	23622248
MIRT044384	hsa-miR-200c-3p	CLASH	23622248
MIRT043955	hsa-miR-378a-3p	CLASH	23622248
MIRT043388	hsa-miR-331-3p	CLASH	23622248
MIRT043054	hsa-miR-324-5p	CLASH	23622248
MIRT042059	hsa-miR-484	CLASH	23622248
MIRT042059	hsa-miR-484	CLASH	23622248
MIRT042059	hsa-miR-484	CLASH	23622248
MIRT041256	hsa-miR-193b-3p	CLASH	23622248
MIRT040564	hsa-miR-92b-3p	CLASH	23622248
MIRT040564	hsa-miR-92b-3p	CLASH	23622248
MIRT040564	hsa-miR-92b-3p	CLASH	23622248
MIRT039798	hsa-miR-615-3p	CLASH	23622248
MIRT039798	hsa-miR-615-3p	CLASH	23622248
MIRT039798	hsa-miR-615-3p	CLASH	23622248
MIRT039798	hsa-miR-615-3p	CLASH	23622248
MIRT440640	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440640	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT044384	hsa-miR-200c-3p	Luciferase reporter assay, Western blotting, qRT-PCR	31747409
MIRT998711	hsa-miR-1207-5p	CLIP-seq
MIRT998712	hsa-miR-1234	CLIP-seq
MIRT998713	hsa-miR-1253	CLIP-seq
MIRT998714	hsa-miR-125a-3p	CLIP-seq
MIRT998715	hsa-miR-146a	CLIP-seq
MIRT998716	hsa-miR-146b-5p	CLIP-seq
MIRT998717	hsa-miR-1827	CLIP-seq
MIRT998718	hsa-miR-1908	CLIP-seq
MIRT998719	hsa-miR-1909	CLIP-seq
MIRT998720	hsa-miR-3064-5p	CLIP-seq
MIRT998721	hsa-miR-3135b	CLIP-seq
MIRT998722	hsa-miR-3141	CLIP-seq
MIRT998723	hsa-miR-3150a-3p	CLIP-seq
MIRT998724	hsa-miR-3175	CLIP-seq
MIRT998725	hsa-miR-3177-3p	CLIP-seq
MIRT998726	hsa-miR-3180	CLIP-seq
MIRT998727	hsa-miR-3180-3p	CLIP-seq
MIRT998728	hsa-miR-3184	CLIP-seq
MIRT998729	hsa-miR-3196	CLIP-seq
MIRT998730	hsa-miR-339-3p	CLIP-seq
MIRT998731	hsa-miR-3612	CLIP-seq
MIRT998732	hsa-miR-3652	CLIP-seq
MIRT998733	hsa-miR-3665	CLIP-seq
MIRT998734	hsa-miR-3925-5p	CLIP-seq
MIRT998735	hsa-miR-3937	CLIP-seq
MIRT998736	hsa-miR-423-5p	CLIP-seq
MIRT998737	hsa-miR-4271	CLIP-seq
MIRT998738	hsa-miR-4430	CLIP-seq
MIRT998739	hsa-miR-4434	CLIP-seq
MIRT998740	hsa-miR-4436b-3p	CLIP-seq
MIRT998741	hsa-miR-4469	CLIP-seq
MIRT998742	hsa-miR-4505	CLIP-seq
MIRT998743	hsa-miR-4508	CLIP-seq
MIRT998744	hsa-miR-4516	CLIP-seq
MIRT998745	hsa-miR-4531	CLIP-seq
MIRT998746	hsa-miR-4667-5p	CLIP-seq
MIRT998747	hsa-miR-4685-5p	CLIP-seq
MIRT998748	hsa-miR-4700-5p	CLIP-seq
MIRT998749	hsa-miR-4725-3p	CLIP-seq
MIRT998750	hsa-miR-4731-5p	CLIP-seq
MIRT998751	hsa-miR-4736	CLIP-seq
MIRT998752	hsa-miR-4763-3p	CLIP-seq
MIRT998753	hsa-miR-4767	CLIP-seq
MIRT998754	hsa-miR-4792	CLIP-seq
MIRT998755	hsa-miR-503	CLIP-seq
MIRT998756	hsa-miR-542-3p	CLIP-seq
MIRT998757	hsa-miR-642a	CLIP-seq
MIRT998758	hsa-miR-647	CLIP-seq
MIRT998759	hsa-miR-650	CLIP-seq
MIRT998760	hsa-miR-661	CLIP-seq
MIRT998761	hsa-miR-663	CLIP-seq
MIRT998762	hsa-miR-744	CLIP-seq
MIRT998763	hsa-miR-939	CLIP-seq
MIRT998764	hsa-miR-940	CLIP-seq
MIRT998765	hsa-miR-1225-5p	CLIP-seq
MIRT998766	hsa-miR-1275	CLIP-seq
MIRT998718	hsa-miR-1908	CLIP-seq
MIRT998720	hsa-miR-3064-5p	CLIP-seq
MIRT998767	hsa-miR-3132	CLIP-seq
MIRT998722	hsa-miR-3141	CLIP-seq
MIRT998723	hsa-miR-3150a-3p	CLIP-seq
MIRT998724	hsa-miR-3175	CLIP-seq
MIRT998728	hsa-miR-3184	CLIP-seq
MIRT998732	hsa-miR-3652	CLIP-seq
MIRT998736	hsa-miR-423-5p	CLIP-seq
MIRT998737	hsa-miR-4271	CLIP-seq
MIRT998738	hsa-miR-4430	CLIP-seq
MIRT998768	hsa-miR-4488	CLIP-seq
MIRT998742	hsa-miR-4505	CLIP-seq
MIRT998743	hsa-miR-4508	CLIP-seq
MIRT998769	hsa-miR-4665-5p	CLIP-seq
MIRT998746	hsa-miR-4667-5p	CLIP-seq
MIRT998770	hsa-miR-4697-5p	CLIP-seq
MIRT998748	hsa-miR-4700-5p	CLIP-seq
MIRT998749	hsa-miR-4725-3p	CLIP-seq
MIRT998750	hsa-miR-4731-5p	CLIP-seq
MIRT998771	hsa-miR-4781-5p	CLIP-seq
MIRT998772	hsa-miR-486-3p	CLIP-seq
MIRT998761	hsa-miR-663	CLIP-seq
MIRT998762	hsa-miR-744	CLIP-seq
MIRT998763	hsa-miR-939	CLIP-seq
MIRT998720	hsa-miR-3064-5p	CLIP-seq
MIRT998723	hsa-miR-3150a-3p	CLIP-seq
MIRT998724	hsa-miR-3175	CLIP-seq
MIRT998732	hsa-miR-3652	CLIP-seq
MIRT998738	hsa-miR-4430	CLIP-seq
MIRT998742	hsa-miR-4505	CLIP-seq
MIRT998746	hsa-miR-4667-5p	CLIP-seq
MIRT998748	hsa-miR-4700-5p	CLIP-seq
MIRT998750	hsa-miR-4731-5p	CLIP-seq
MIRT998763	hsa-miR-939	CLIP-seq
MIRT998714	hsa-miR-125a-3p	CLIP-seq
MIRT998717	hsa-miR-1827	CLIP-seq
MIRT998720	hsa-miR-3064-5p	CLIP-seq
MIRT998723	hsa-miR-3150a-3p	CLIP-seq
MIRT998724	hsa-miR-3175	CLIP-seq
MIRT998730	hsa-miR-339-3p	CLIP-seq
MIRT998731	hsa-miR-3612	CLIP-seq
MIRT998732	hsa-miR-3652	CLIP-seq
MIRT998733	hsa-miR-3665	CLIP-seq
MIRT998738	hsa-miR-4430	CLIP-seq
MIRT998742	hsa-miR-4505	CLIP-seq
MIRT998746	hsa-miR-4667-5p	CLIP-seq
MIRT998748	hsa-miR-4700-5p	CLIP-seq
MIRT998750	hsa-miR-4731-5p	CLIP-seq
MIRT998751	hsa-miR-4736	CLIP-seq
MIRT998754	hsa-miR-4792	CLIP-seq
MIRT998759	hsa-miR-650	CLIP-seq
MIRT998763	hsa-miR-939	CLIP-seq
MIRT998764	hsa-miR-940	CLIP-seq
MIRT998711	hsa-miR-1207-5p	CLIP-seq
MIRT998719	hsa-miR-1909	CLIP-seq
MIRT998725	hsa-miR-3177-3p	CLIP-seq
MIRT998726	hsa-miR-3180	CLIP-seq
MIRT998727	hsa-miR-3180-3p	CLIP-seq
MIRT998729	hsa-miR-3196	CLIP-seq
MIRT998730	hsa-miR-339-3p	CLIP-seq
MIRT998735	hsa-miR-3937	CLIP-seq
MIRT998740	hsa-miR-4436b-3p	CLIP-seq
MIRT998752	hsa-miR-4763-3p	CLIP-seq
MIRT998754	hsa-miR-4792	CLIP-seq
MIRT998756	hsa-miR-542-3p	CLIP-seq
MIRT998711	hsa-miR-1207-5p	CLIP-seq
MIRT998765	hsa-miR-1225-5p	CLIP-seq
MIRT998712	hsa-miR-1234	CLIP-seq
MIRT998714	hsa-miR-125a-3p	CLIP-seq
MIRT1995959	hsa-miR-1273g	CLIP-seq
MIRT998766	hsa-miR-1275	CLIP-seq
MIRT998717	hsa-miR-1827	CLIP-seq
MIRT998718	hsa-miR-1908	CLIP-seq
MIRT998719	hsa-miR-1909	CLIP-seq
MIRT1995960	hsa-miR-1913	CLIP-seq
MIRT998720	hsa-miR-3064-5p	CLIP-seq
MIRT998767	hsa-miR-3132	CLIP-seq
MIRT998722	hsa-miR-3141	CLIP-seq
MIRT998723	hsa-miR-3150a-3p	CLIP-seq
MIRT998724	hsa-miR-3175	CLIP-seq
MIRT998725	hsa-miR-3177-3p	CLIP-seq
MIRT1995961	hsa-miR-3177-5p	CLIP-seq
MIRT998728	hsa-miR-3184	CLIP-seq
MIRT1995962	hsa-miR-323b-5p	CLIP-seq
MIRT1995963	hsa-miR-324-3p	CLIP-seq
MIRT998730	hsa-miR-339-3p	CLIP-seq
MIRT998731	hsa-miR-3612	CLIP-seq
MIRT998732	hsa-miR-3652	CLIP-seq
MIRT998733	hsa-miR-3665	CLIP-seq
MIRT998735	hsa-miR-3937	CLIP-seq
MIRT998736	hsa-miR-423-5p	CLIP-seq
MIRT998737	hsa-miR-4271	CLIP-seq
MIRT998738	hsa-miR-4430	CLIP-seq
MIRT998740	hsa-miR-4436b-3p	CLIP-seq
MIRT998741	hsa-miR-4469	CLIP-seq
MIRT998768	hsa-miR-4488	CLIP-seq
MIRT998742	hsa-miR-4505	CLIP-seq
MIRT998743	hsa-miR-4508	CLIP-seq
MIRT998769	hsa-miR-4665-5p	CLIP-seq
MIRT998746	hsa-miR-4667-5p	CLIP-seq
MIRT998747	hsa-miR-4685-5p	CLIP-seq
MIRT998770	hsa-miR-4697-5p	CLIP-seq
MIRT1995964	hsa-miR-4700-3p	CLIP-seq
MIRT998748	hsa-miR-4700-5p	CLIP-seq
MIRT998749	hsa-miR-4725-3p	CLIP-seq
MIRT998750	hsa-miR-4731-5p	CLIP-seq
MIRT998751	hsa-miR-4736	CLIP-seq
MIRT998752	hsa-miR-4763-3p	CLIP-seq
MIRT998753	hsa-miR-4767	CLIP-seq
MIRT998771	hsa-miR-4781-5p	CLIP-seq
MIRT998754	hsa-miR-4792	CLIP-seq
MIRT998772	hsa-miR-486-3p	CLIP-seq
MIRT998755	hsa-miR-503	CLIP-seq
MIRT998756	hsa-miR-542-3p	CLIP-seq
MIRT1995965	hsa-miR-564	CLIP-seq
MIRT998757	hsa-miR-642a	CLIP-seq
MIRT998759	hsa-miR-650	CLIP-seq
MIRT998760	hsa-miR-661	CLIP-seq
MIRT998761	hsa-miR-663	CLIP-seq
MIRT998762	hsa-miR-744	CLIP-seq
MIRT998763	hsa-miR-939	CLIP-seq
MIRT998764	hsa-miR-940	CLIP-seq
MIRT998711	hsa-miR-1207-5p	CLIP-seq
MIRT998714	hsa-miR-125a-3p	CLIP-seq
MIRT998717	hsa-miR-1827	CLIP-seq
MIRT998719	hsa-miR-1909	CLIP-seq
MIRT998720	hsa-miR-3064-5p	CLIP-seq
MIRT998723	hsa-miR-3150a-3p	CLIP-seq
MIRT998724	hsa-miR-3175	CLIP-seq
MIRT998725	hsa-miR-3177-3p	CLIP-seq
MIRT998726	hsa-miR-3180	CLIP-seq
MIRT998727	hsa-miR-3180-3p	CLIP-seq
MIRT998729	hsa-miR-3196	CLIP-seq
MIRT998730	hsa-miR-339-3p	CLIP-seq
MIRT998731	hsa-miR-3612	CLIP-seq
MIRT998732	hsa-miR-3652	CLIP-seq
MIRT998733	hsa-miR-3665	CLIP-seq
MIRT998738	hsa-miR-4430	CLIP-seq
MIRT998740	hsa-miR-4436b-3p	CLIP-seq
MIRT998742	hsa-miR-4505	CLIP-seq
MIRT998746	hsa-miR-4667-5p	CLIP-seq
MIRT998748	hsa-miR-4700-5p	CLIP-seq
MIRT998750	hsa-miR-4731-5p	CLIP-seq
MIRT998751	hsa-miR-4736	CLIP-seq
MIRT998752	hsa-miR-4763-3p	CLIP-seq
MIRT998754	hsa-miR-4792	CLIP-seq
MIRT998756	hsa-miR-542-3p	CLIP-seq
MIRT998759	hsa-miR-650	CLIP-seq
MIRT998763	hsa-miR-939	CLIP-seq
MIRT998764	hsa-miR-940	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001664	Function	G protein-coupled receptor binding	IPI	26460884
GO:0002102	Component	Podosome	IEA
GO:0002102	Component	Podosome	ISS
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	4044584, 9722563, 10051605, 10604475, 10692483, 12393796, 12577067, 14573758, 15684392, 16076904, 16291724, 16862148, 17408621, 17474147, 17690686, 18177638, 18322202, 19828450, 20236936, 21228480, 21524097, 21653829, 21914078, 21926999, 22121117, 24021649, 25241761, 25358863, 25416
GO:0005576	Component	Extracellular region	TAS
GO:0005634	Component	Nucleus	IDA	15684392
GO:0005730	Component	Nucleolus	IMP	22307607
GO:0005737	Component	Cytoplasm	IDA	15684392, 21914078, 25468996
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005884	Component	Actin filament	IEA
GO:0005886	Component	Plasma membrane	IDA	18322202
GO:0005911	Component	Cell-cell junction	IDA	16291724
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0005938	Component	Cell cortex	IEA
GO:0007195	Process	Adenylate cyclase-inhibiting dopamine receptor signaling pathway	IMP	10692483
GO:0007597	Process	Blood coagulation, intrinsic pathway	NAS	16293600
GO:0010572	Process	Positive regulation of platelet activation	NAS	16293600
GO:0015459	Function	Potassium channel regulator activity	IDA	24951510
GO:0015629	Component	Actin cytoskeleton	IC	2391361
GO:0015629	Component	Actin cytoskeleton	IDA	25358863
GO:0015629	Component	Actin cytoskeleton	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016479	Process	Negative regulation of transcription by RNA polymerase I	IDA	22307607
GO:0019900	Function	Kinase binding	IPI	20713593
GO:0021943	Process	Formation of radial glial scaffolds	IEA
GO:0021987	Process	Cerebral cortex development	IEA
GO:0030018	Component	Z disc	ISS	24951510
GO:0030030	Process	Cell projection organization	IEA
GO:0030036	Process	Actin cytoskeleton organization	IDA	10051605
GO:0030036	Process	Actin cytoskeleton organization	IEA
GO:0030334	Process	Regulation of cell migration	IDA	16291724
GO:0030426	Component	Growth cone	IEA
GO:0030863	Component	Cortical cytoskeleton	IEA
GO:0031267	Function	Small GTPase binding	IDA	10051605
GO:0031523	Component	Myb complex	IDA	18548008
GO:0032233	Process	Positive regulation of actin filament bundle assembly	IEA
GO:0034394	Process	Protein localization to cell surface	IDA	18322202
GO:0034988	Function	Fc-gamma receptor I complex binding	IDA	1833070
GO:0035855	Process	Megakaryocyte development	NAS	16293600
GO:0042177	Process	Negative regulation of protein catabolic process	IMP	18322202
GO:0042307	Process	Positive regulation of protein import into nucleus	IMP	15684392
GO:0042789	Process	MRNA transcription by RNA polymerase II	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	2391361
GO:0042995	Component	Cell projection	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IMP	18177638
GO:0043113	Process	Receptor clustering	IDA	10692483
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	HMP	12761501
GO:0043198	Component	Dendritic shaft	IEA
GO:0043204	Component	Perikaryon	IEA
GO:0043433	Process	Negative regulation of DNA-binding transcription factor activity	IDA	15684392
GO:0044319	Process	Wound healing, spreading of cells	IDA	16291724
GO:0044325	Function	Transmembrane transporter binding	IPI	24951510
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045184	Process	Establishment of protein localization	IDA	18322202
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0046332	Function	SMAD binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0050821	Process	Protein stabilization	IMP	18322202
GO:0051015	Function	Actin filament binding	IDA	2391361, 3138234, 4044584, 25358863
GO:0051015	Function	Actin filament binding	IEA
GO:0051020	Function	GTPase binding	IPI	16291724
GO:0051209	Process	Release of sequestered calcium ion into cytosol	NAS	16293600
GO:0051764	Process	Actin crosslink formation	IDA	10051605
GO:0060271	Process	Cilium assembly	IMP	22121117
GO:0070062	Component	Extracellular exosome	HDA	19056867, 20458337, 21362503, 23533145
GO:0070161	Component	Anchoring junction	IEA
GO:0070527	Process	Platelet aggregation	HMP	23382103
GO:0071526	Process	Semaphorin-plexin signaling pathway	IGI	25358863
GO:0072659	Process	Protein localization to plasma membrane	IDA	24951510
GO:0090042	Process	Tubulin deacetylation	IMP	26157139
GO:0090307	Process	Mitotic spindle assembly	IDA	18548008
GO:0097368	Process	Establishment of Sertoli cell barrier	IEA
GO:0097440	Component	Apical dendrite	IEA
GO:0098794	Component	Postsynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0140297	Function	DNA-binding transcription factor binding	IPI	15684392
GO:0140311	Function	Protein sequestering activity	IMP	17536008
GO:1900026	Process	Positive regulation of substrate adhesion-dependent cell spreading	IMP	18177638
GO:1901381	Process	Positive regulation of potassium ion transmembrane transport	IDA	24951510
GO:1902396	Process	Protein localization to bicellular tight junction	IEA
GO:1905000	Process	Regulation of membrane repolarization during atrial cardiac muscle cell action potential	IC
GO:1905031	Process	Regulation of membrane repolarization during cardiac muscle cell action potential	ISS	24951510
GO:1990779	Component	Glycoprotein Ib-IX-V complex	NAS	16293600
GO:2000179	Process	Positive regulation of neural precursor cell proliferation	IEA
GO:2001046	Process	Positive regulation of integrin-mediated signaling pathway	IMP	18177638
GO:2001224	Process	Positive regulation of neuron migration	IEA

Other IDs

• MIM: 300017
• HGNC: 3754
• e!Ensembl: ENSG00000196924

Protein

• UniProt ID: P21333
• Protein name: Filamin-A (FLN-A) (Actin-binding protein 280) (ABP-280) (Alpha-filamin) (Endothelial actin-binding protein) (Filamin-1) (Non-muscle filamin)
• Protein function: Promotes orthogonal branching of actin filaments and links actin filaments to membrane glycoproteins. Anchors various transmembrane proteins to the actin cytoskeleton and serves as a scaffold for a wide range of cytoplasmic signaling proteins. I
• PDB: 2AAV, 2BP3, 2BRQ, 2J3S, 2JF1, 2K3T, 2K7P, 2K7Q, 2MTP, 2W0P, 2WFN, 3CNK, 3HOC, 3HOP, 3HOR, 3ISW, 3RGH, 4M9P, 4P3W, 5XR1, 6D8C, 6EW1, 7SC4, 7SFT, 9LWX, 9LXG
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00307	CH	43 → 150	Calponin homology (CH) domain	Domain
  PF00307	CH	166 → 270	Calponin homology (CH) domain	Domain
  PF00630	Filamin	278 → 371	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	378 → 471	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	477 → 567	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	573 → 660	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	669 → 760	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	766 → 863	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	869 → 962	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	968 → 1058	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	1064 → 1151	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	1157 → 1246	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	1252 → 1346	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	1352 → 1439	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	1445 → 1536	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	1542 → 1633	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	1639 → 1737	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	1773 → 1857	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	1862 → 1949	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	2044 → 2131	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	2143 → 2227	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	2235 → 2322	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	2329 → 2417	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	2426 → 2513	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	2554 → 2643	Filamin/ABP280 repeat	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous.
• Sequence:

  MSSSHSRAGQSAAGAAPGGGVDTRDAEMPATEKDLAEDAPWKKIQQNTFTRWCNEHLKCV
  SKRIANLQTDLSDGLRLIALLEVLSQKKMHRKHNQRPTFRQMQLENVSVALEFLDRESIK
  LVSIDSKAIVDGNLKLILGLIWTLILHYSISMPMWDEEEDEEAKKQTPKQRLLGWIQNKL
  PQLPITNFSRDWQSGRALGALVDSCAPGLCPDWDSWDASKPVTNAREAMQQADDWLGIPQ
  VITPEEIVDPNVDEHSVMTYLSQFPKAKLKPGAPLRPKLNPKKARAYGPGIEPTGNMVKK
  RAEFTVETRSAGQGEVLVYVEDPAGHQEEAKVTANNDKNRTFSVWYVPEVTGTHKVTVLF
  AGQHIAKSPFEVYVDKSQGDASKVTAQGPGLEPSGNIANKTTYFEIFTAGAGTGEVEVVI
  QDPMGQKGTVEPQLEARGDSTYRCSYQPTMEGVHTVHVTFAGVPIPRSPYTVTVGQACNP
  SACRAVGRGLQPKGVRVKETADFKVYTKGAGSGELKVTVKGPKGEERVKQKDLGDGVYGF
  EYYPMVPGTYIVTITWGGQNIGRSPFEVKVGTECGNQKVRAWGPGLEGGVVGKSADFVVE
  AIGDDVGTLGFSVEGPSQAKIECDDKGDGSCDVRYWPQEAGEYAVHVLCNSEDIRLSPFM
  ADIRDAPQDFHPDRVKARGPGLEKTGVAVNKPAEFTVDAKHGGKAPLRVQVQDNEGCPVE
  ALVKDNGNGTYSCSYVPRKPVKHTAMVSWGGVSIPNSPFRVNVGAGSHPNKVKVYGPGVA
  KTGLKAHEPTYFTVDCAEAGQGDVSIGIKCAPGVVGPAEADIDFDIIRNDNDTFTVKYTP
  RGAGSYTIMVLFADQATPTSPIRVKVEPSHDASKVKAEGPGLSRTGVELGKPTHFTVNAK
  AAGKGKLDVQFSGLTKGDAVRDVDIIDHHDNTYTVKYTPVQQGPVGVNVTYGGDPIPKSP
  FSVAVSPSLDLSKIKVSGLGEKVDVGKDQEFTVKSKGAGGQGKVASKIVGPSGAAVPCKV
  EPGLGADNSVVRFLPREEGPYEVEVTYDGVPVPGSPFPLEAVAPTKPSKVKAFGPGLQGG
  SAGSPARFTIDTKGAGTGGLGLTVEGPCEAQLECLDNGDGTCSVSYVPTEPGDYNINILF
  ADTHIPGSPFKAHVVPCFDASKVKCSGPGLERATAGEVGQFQVDCSSAGSAELTIEICSE
  AGLPAEVYIQDHGDGTHTITYIPLCPGAYTVTIKYGGQPVPNFPSKLQVEPAVDTSGVQC
  YGPGIEGQGVFREATTEFSVDARALTQTGGPHVKARVANPSGNLTETYVQDRGDGMYKVE
  YTPYEEGLHSVDVTYDGSPVPSSPFQVPVTEGCDPSRVRVHGPGIQSGTTNKPNKFTVET
  RGAGTGGLGLAVEGPSEAKMSCMDNKDGSCSVEYIPYEAGTYSLNVTYGGHQVPGSPFKV
  PVHDVTDASKVKCSGPGLSPGMVRANLPQSFQVDTSKAGVAPLQVKVQGPKGLVEPVDVV
  DNADGTQTVNYVPSREGPYSISVLYGDEEVPRSPFKVKVLPTHDASKVKASGPGLNTTGV
  PASLPVEFTIDAKDAGEGLLAVQITDPEGKPKKTHIQDNHDGTYTVAYVPDVTGRYTILI
  KYGGDEIPFSPYRVRAVPTGDASKCTVTVSIGGHGLGAGIGPTIQIGEETVITVDTKAAG
  KGKVTCTVCTPDGSEVDVDVVENEDGTFDIFYTAPQPGKYVICVRFGGEHVPNSPFQVTA
  LAGDQPSVQPPLRSQQLAPQYTYAQGGQQTWAPERPLVGVNGLDVTSLRPFDLVIPFTIK
  KGEITGEVRMPSGKVAQPTITDNKDGTVTVRYAPSEAGLHEMDIRYDNMHIPGSPLQFYV
  DYVNCGHVTAYGPGLTHGVVNKPATFTVNTKDAGEGGLSLAIEGPSKAEISCTDNQDGTC
  SVSYLPVLPGDYSILVKYNEQHVPGSPFTARVTGDDSMRMSHLKVGSAADIPINISETDL
  SLLTATVVPPSGREEPCLLKRLRNGHVGISFVPKETGEHLVHVKKNGQHVASSPIPVVIS
  QSEIGDASRVRVSGQGLHEGHTFEPAEFIIDTRDAGYGGLSLSIEGPSKVDINTEDLEDG
  TCRVTYCPTEPGNYIINIKFADQHVPGSPFSVKVTGEGRVKESITRRRRAPSVANVGSHC
  DLSLKIPEISIQDMTAQVTSPSGKTHEAEIVEGENHTYCIRFVPAEMGTHTVSVKYKGQH
  VPGSPFQFTVGPLGEGGAHKVRAGGPGLERAEAGVPAEFSIWTREAGAGGLAIAVEGPSK
  AEISFEDRKDGSCGVAYVVQEPGDYEVSVKFNEEHIPDSPFVVPVASPSGDARRLTVSSL
  QESGLKVNQPASFAVSLNGAKGAIDAKVHSPSGALEECYVTEIDQDKYAVRFIPRENGVY
  LIDVKFNGTHIPGSPFKIRVGEPGHGGDPGLVSAYGAGLEGGVTGNPAEFVVNTSNAGAG
  ALSVTIDGPSKVKMDCQECPEGYRVTYTPMAPGSYLISIKYGGPYHIGGSPFKAKVTGPR
  LVSNHSLHETSSVFVDSLTKATCAPQHGAPGPGPADASKVVAKGLGLSKAYVGQKSSFTV
  DCSKAGNNMLLVGVHGPRTPCEEILVKHVGSRLYSVSYLLKDKGEYTLVVKWGDEHIPGS
  PYRVVVP

• Sequence length: 2647

Pathways

KEGG:

MAPK signaling pathway
Focal adhesion
Salmonella infection
Proteoglycans in cancer

Reactome:

Platelet degranulation
GP1b-IX-V activation signalling
Cell-extracellular matrix interactions
RHO GTPases activate PAKs
OAS antiviral response

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Associated diseases

Causal
Disease merge term	Disease name	dbSNP ID	References
Cardiac Valvular Dysplasia , X-Linked	cardiac valvular dysplasia, x-linked	rs1603362402, rs1603360542, rs267606815, rs267606816, rs267606817, rs2067676994, rs797045044	N/A
Frontometaphyseal Dysplasia	frontometaphyseal dysplasia 1	rs137853312, rs28935471	N/A
Heterotopia	Heterotopia, periventricular, X-linked dominant, Heterotopia, periventricular, with frontometaphyseal dysplasia	rs786205186, rs137853310, rs786205202, rs2147483647, rs786205183, rs1057516198, rs863223295, rs786205201, rs786205182, rs387907371, rs863223296, rs786205199, rs786205177, rs1557175424, rs863223297, rs786205198, rs786205180, rs781910090, rs786205197, rs370490152, rs1569551736, rs1557179325, rs267606816, rs28935169, rs1603358919, rs786205194, rs786205204, rs863223299, rs1557180226, rs786205191, rs786205203, rs137853313, rs398122812, rs786205190, rs786205181, rs398123620, rs786205189, rs137853315, rs1569551449, rs186214592, rs786205188, rs863223636, rs782121971, rs786205178	N/A
Intestinal Pseudoobstruction, Neuronal, X-Linked	Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked	rs80338840, rs398122521	N/A
Melnick-Needles Syndrome	melnick-needles syndrome	rs28935473, rs28935472	N/A
Oto-Palato-Digital Syndrome	Oto-palato-digital syndrome, type II, Otopalatodigital syndrome spectrum disorder, Oto-palato-digital syndrome, type I	rs137853318, rs137853312, rs863223298, rs28935469, rs28935470, rs137853314, rs137853316	N/A
Prune belly syndrome	prune belly syndrome	rs1603359205, rs1603359091	N/A
Thoracic Aortic Aneurysm And Aortic Dissection	familial thoracic aortic aneurysm and aortic dissection	rs886038987, rs1603360542, rs1557179684	N/A
Periventricular Nodular Heterotopia	periventricular nodular heterotopia	rs1557177663, rs1557179349	N/A

Unknown
Disease merge term	Disease name	Evidence	References	Source
Connective Tissue Disease	Connective tissue disorder	N/A	N/A	ClinVar
Developmental And Epileptic Encephalopathy	genetic developmental and epileptic encephalopathy	N/A	N/A	GenCC
Ehlers-Danlos Syndrome	Ehlers-Danlos syndrome, classic type, ehlers-danlos syndrome	N/A	N/A	ClinVar
FG Syndrome	fg syndrome 2	N/A	N/A	ClinVar
Hepatoblastoma	hepatoblastoma	N/A	N/A	ClinVar
Macrothrombocytopenia	macrothrombocytopenia	N/A	N/A	ClinVar
Marfan Syndrome	marfan syndrome	N/A	N/A	ClinVar
Mental retardation	intellectual disability	N/A	N/A	ClinVar
Microcephaly	microcephaly	N/A	N/A	ClinVar
Myopathy	Myopathy, centronuclear, 2	N/A	N/A	ClinVar
scoliosis	Scoliosis	N/A	N/A	ClinVar
Thoracic Aortic Aneurysm	aortic aneurysm, familial thoracic 2	N/A	N/A	ClinVar
thrombocytopenia	Thrombocytopenia	N/A	N/A	ClinVar
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White pattern	N/A	N/A	ClinVar

Associations from Text Mining
Disease Name	Relationship Type	References
Achondroplasia	Associate	32814550
Acromegaly	Associate	30718563
Adenocarcinoma	Associate	25944616
Adenocarcinoma	Inhibit	39764579
Adenocarcinoma of Lung	Associate	29272322
Adrenocortical Carcinoma	Associate	38068896
Aneurysm	Associate	36372407
Anorchia	Associate	16417552
Aortic Aneurysm	Associate	36372407
Aortic Aneurysm Thoracic	Associate	29334594
Axial osteomalacia	Associate	32814550
Bernard Soulier Syndrome	Associate	26133172
Bicuspid Aortic Valve Disease	Associate	19720936
Blood Coagulation Disorders	Associate	27091362, 36944974
Blood Platelet Disorders	Associate	26133172
Breast Neoplasms	Associate	19808958, 22595522, 29272322, 33267867
Bronchial Spasm	Associate	27091362
Carcinogenesis	Associate	19213840, 25944616
Carcinoma Hepatocellular	Inhibit	34290294
Carcinoma Hepatocellular	Associate	35688384, 37960718
Carcinoma Renal Cell	Associate	24870795, 38292868
Carcinoma Squamous Cell	Associate	27485544, 32991423
Cardiac valvular dysplasia X linked	Associate	24200678, 29146485, 37429070
Cardiomyopathies	Associate	34254723
Cardiomyopathy Dilated	Associate	19720936, 35660364, 38310240
Cardiomyopathy Dilated with Left Ventricular Noncompaction	Associate	34254723
Cardiomyopathy Restrictive	Associate	34254723
Cardiovascular Abnormalities	Associate	20730588, 27091362
Cardiovascular Diseases	Associate	26059841, 34774109
Cicatrix	Associate	27426733
Colonic Neoplasms	Inhibit	25717257
Colorectal Neoplasms	Associate	25717257, 36319976, 36849408
Colorectal Neoplasms	Inhibit	39764579
Congenital idiopathic intestinal pseudoobstruction	Associate	17357080
Constipation	Associate	16299064
Contracture	Associate	26804200
Craniosynostoses	Associate	25873011
Cystic Fibrosis	Associate	35954202
Developmental Defects of Enamel	Associate	29272322
Diabetes Mellitus	Associate	36837510
Ectodermal Dysplasia	Associate	38068896
Ehlers Danlos Syndrome	Associate	15994863, 26059841, 27632686
Emphysema	Associate	27091362
Encephalitis	Stimulate	24413261
Epilepsy	Associate	29062687, 34254723
Epilepsy rolandic with paroxysmal exercise induced dystonia and writer's cramp	Associate	40646440
Facial Dysmorphism with Multiple Malformations	Associate	16299064
Failure to Thrive	Associate	26059841
Fatigue Syndrome Chronic	Associate	31759091
Fibroadenoma	Associate	33727697
Fibrosarcoma	Associate	22595522
Filaminopathy autosomal dominant	Associate	21960593, 27426733, 30602618
Frontometaphyseal dysplasia	Associate	21821884, 25873011, 29467388, 29995760
Genetic Diseases Inborn	Associate	26804200
Genetic Diseases X Linked	Associate	26059841
Genital Diseases Male	Associate	35613087
Growth Hormone Secreting Pituitary Adenoma	Associate	30718563
Hearing Loss Bilateral	Associate	26956990
Heart Defects Congenital	Associate	33836056
Heart Diseases	Associate	20730588, 24200678, 29146485
Heart Failure	Associate	37092838
HEM dysplasia	Associate	22595522, 27091362
Hemorrhage	Associate	21960593
Heterotopia Periventricular Autosomal Recessive	Associate	23032111, 24906659, 31489630
HIV Infections	Associate	21705339
HTLV I Infections	Associate	26742839
Intestinal Diseases	Associate	22595522
Intestinal Pseudo Obstruction	Associate	17357080, 23037936, 26059841
Keloid	Associate	26804200
Kidney Calculi	Associate	26804200
Leukemia	Associate	24850755
Leukemia Myeloid	Associate	19376791
Lung Diseases	Associate	27091362, 28457522, 30557962, 33176330, 33734874, 35156755
Lung Diseases Interstitial	Associate	33734874, 34254723
Lung Diseases Obstructive	Associate	28457522
Lung Neoplasms	Associate	20179208, 25944616, 29272322
Lupus Erythematosus Systemic	Associate	32678854
Lymphatic Metastasis	Associate	24218340, 25717257
Lymphatic Metastasis	Inhibit	24241900, 24390612, 24870795
Lymphoproliferative Syndrome X Linked 2	Associate	26804200
Malformations of Cortical Development	Associate	20730588, 32570172
Malformations of Cortical Development Group II	Associate	22595522, 28953922
Marfan Syndrome	Associate	19720936
Medulloblastoma	Associate	28231263
Melanoma	Associate	14660646, 19177143, 19213840, 19808958, 20179208, 20585650, 24200678, 26552704, 27738102, 29284605
Mitral Valve Insufficiency	Associate	31542223, 39273357
Mitral Valve Stenosis	Associate	29020406, 30344108
Moyamoya disease 1	Associate	37446373
Musculoskeletal Abnormalities	Associate	34254723
Musculoskeletal Diseases	Associate	21620354
Myotonia with Skeletal Abnormalities and Mental Retardation	Associate	15684392
Nasopharyngeal Carcinoma	Associate	24218340
Nasopharyngeal Neoplasms	Inhibit	24218340
Neoplasm Metastasis	Associate	25717257, 29272322
Neoplasms	Associate	19808958, 20179208, 21267586, 29596499, 30718563, 32102425, 33125133, 33727697, 35688384, 37108678, 39764579
Neoplasms	Inhibit	27738102, 31268639, 38068896
Neoplasms Connective Tissue	Associate	23032111
Neoplasms Vascular Tissue	Associate	23032111
Neoplastic Syndromes Hereditary	Associate	26133172
Nervous System Malformations	Associate	17357080
Neuroblastoma	Associate	20179208
Neurologic Manifestations	Associate	16417552, 20730588
Obesity	Associate	36837510
Oculocerebrorenal Syndrome	Associate	16299064
Orofacial Cleft 1	Associate	40147726
Osteochondrodysplasias	Associate	21821884, 32814550
Osteoporosis	Associate	25815782, 28420501
Oto Palato digital syndrome type 1	Associate	16299064, 21821884, 21960593
Otopalatodigital Spectrum Disorder	Associate	25873011, 27091362
Ovarian Fibromata	Associate	34254723
Ovarian Neoplasms	Associate	22249249
Pancreatic Neoplasms	Associate	20550479
Pancreatitis Chronic	Associate	22015969
Parathyroid Neoplasms	Associate	27872158, 29272322
Parkinson Disease	Associate	32348865
Periventricular Nodular Heterotopia	Associate	15994863, 16299064, 16417552, 17357080, 18384621, 20730588, 21960593, 22238415, 22914838, 23032111, 24906659, 25873011, 26059841, 26471271, 27091362, 27632686, 28457522, 29062687, 30557962, 33836056, 35156755, 35613087, 35660364, 36372407
Peters anomaly	Associate	25182519
Phyllodes Tumor	Associate	31647027, 33727697
Post Acute COVID 19 Syndrome	Associate	37924708
Prenatal Injuries	Associate	24906659
Prostatic Neoplasms	Associate	20179208, 27206800, 30623593, 31268639, 33500395, 35011576, 37108678, 38179769
Prostatic Neoplasms	Inhibit	24390612
Prostatitis	Associate	24390612
Prune Belly Syndrome	Associate	32085749
Pulmonary Arterial Hypertension	Associate	27091362
Pulmonary Atelectasis	Associate	27091362
Pulmonary Emphysema	Associate	35156755
Respiratory Insufficiency	Associate	28457522, 33734874
Retinal Dysplasia	Associate	34254723
Root Resorption	Associate	38546524
Scoliosis	Associate	40264431
Seizures	Associate	17357080, 24906659, 26471271
Seminoma	Associate	33266100
Septo Optic Dysplasia	Associate	31234783
Signs and Symptoms Respiratory	Associate	35156755
Skeletal Defects Genital Hypoplasia And Mental Retardation	Associate	34254723
Skin Diseases	Associate	20730588
Spasms Infantile	Associate	16417552
Squamous Cell Carcinoma of Head and Neck	Associate	28559546, 35655921, 37373553
Stomach Neoplasms	Inhibit	24241900
Stomach Neoplasms	Associate	31886120
Thrombocytopenia	Associate	21960593, 26059841
Urinary Bladder Diseases	Associate	18854860
Urinary Bladder Neoplasms	Associate	20139371, 20179208
Uterine Cervical Neoplasms	Associate	29272322, 33125133
Vascular Malformations	Associate	33836056
Volvulus Of Midgut	Associate	26059841