Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	79048
Gene name	SECIS binding protein 2
Gene symbol	SECISBP2
Synonyms (NCBI Gene)	SBP2THMA1
Chromosome	9
Chromosome location	9q22.2
Summary	The protein encoded by this gene is one of the essential components of the machinery involved in co-translational insertion of selenocysteine (Sec) into selenoproteins. Sec is encoded by the UGA codon, which normally signals translation termination. The r

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SNP ID	Visualize variation	Clinical significance	Consequence
rs119461976	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs119461977	A>G,T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, missense variant
rs730880269	G>A	Pathogenic	Intron variant
rs764344701	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, stop gained
rs1554716257	T>-	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs1587875298	->A	Pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, frameshift variant

295

Show/Hide all (295)

miRTarBase ID	miRNA	Experiments	Reference
MIRT020988	hsa-miR-155-5p	Reporter assay;Other	20584899
MIRT021606	hsa-miR-142-3p	Microarray	17612493
MIRT030066	hsa-miR-26b-5p	Microarray	19088304
MIRT038334	hsa-miR-130b-5p	CLASH	23622248
MIRT037425	hsa-miR-744-5p	CLASH	23622248
MIRT653995	hsa-miR-4255	HITS-CLIP	23824327
MIRT653994	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT653993	hsa-miR-6513-3p	HITS-CLIP	23824327
MIRT653992	hsa-miR-642b-5p	HITS-CLIP	23824327
MIRT021606	hsa-miR-142-3p	HITS-CLIP	22473208
MIRT020988	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT021606	hsa-miR-142-3p	HITS-CLIP	22473208
MIRT020988	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT653995	hsa-miR-4255	HITS-CLIP	23824327
MIRT653994	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT653993	hsa-miR-6513-3p	HITS-CLIP	23824327
MIRT653992	hsa-miR-642b-5p	HITS-CLIP	23824327
MIRT1333744	hsa-miR-1264	CLIP-seq
MIRT1333745	hsa-miR-145	CLIP-seq
MIRT1333746	hsa-miR-15a	CLIP-seq
MIRT1333747	hsa-miR-15b	CLIP-seq
MIRT1333748	hsa-miR-16	CLIP-seq
MIRT1333749	hsa-miR-195	CLIP-seq
MIRT1333750	hsa-miR-23a	CLIP-seq
MIRT1333751	hsa-miR-23b	CLIP-seq
MIRT1333752	hsa-miR-23c	CLIP-seq
MIRT1333753	hsa-miR-3180-5p	CLIP-seq
MIRT1333754	hsa-miR-3942-3p	CLIP-seq
MIRT1333755	hsa-miR-3973	CLIP-seq
MIRT1333756	hsa-miR-424	CLIP-seq
MIRT1333757	hsa-miR-4263	CLIP-seq
MIRT1333758	hsa-miR-4323	CLIP-seq
MIRT1333759	hsa-miR-4524	CLIP-seq
MIRT1333760	hsa-miR-4712-5p	CLIP-seq
MIRT1333761	hsa-miR-4719	CLIP-seq
MIRT1333762	hsa-miR-497	CLIP-seq
MIRT1333763	hsa-miR-503	CLIP-seq
MIRT1333764	hsa-miR-520a-5p	CLIP-seq
MIRT1333765	hsa-miR-525-5p	CLIP-seq
MIRT1333766	hsa-miR-548l	CLIP-seq
MIRT1333767	hsa-miR-630	CLIP-seq
MIRT1333768	hsa-miR-646	CLIP-seq
MIRT1333769	hsa-miR-770-5p	CLIP-seq
MIRT2098707	hsa-miR-1205	CLIP-seq
MIRT2098708	hsa-miR-1226	CLIP-seq
MIRT2098709	hsa-miR-1237	CLIP-seq
MIRT2098710	hsa-miR-125a-5p	CLIP-seq
MIRT2098711	hsa-miR-125b	CLIP-seq
MIRT2098712	hsa-miR-1286	CLIP-seq
MIRT2098713	hsa-miR-155	CLIP-seq
MIRT2098714	hsa-miR-197	CLIP-seq
MIRT2098715	hsa-miR-214	CLIP-seq
MIRT2098716	hsa-miR-2276	CLIP-seq
MIRT2098717	hsa-miR-24	CLIP-seq
MIRT2098718	hsa-miR-28-5p	CLIP-seq
MIRT2098719	hsa-miR-3130-3p	CLIP-seq
MIRT2098720	hsa-miR-3139	CLIP-seq
MIRT2098721	hsa-miR-3160-5p	CLIP-seq
MIRT2098722	hsa-miR-3173-5p	CLIP-seq
MIRT1333753	hsa-miR-3180-5p	CLIP-seq
MIRT2098723	hsa-miR-3200-5p	CLIP-seq
MIRT2098724	hsa-miR-331-3p	CLIP-seq
MIRT2098725	hsa-miR-338-3p	CLIP-seq
MIRT2098726	hsa-miR-3591-3p	CLIP-seq
MIRT2098727	hsa-miR-3607-5p	CLIP-seq
MIRT2098728	hsa-miR-3614-5p	CLIP-seq
MIRT2098729	hsa-miR-3619-5p	CLIP-seq
MIRT2098730	hsa-miR-3670	CLIP-seq
MIRT2098731	hsa-miR-3680	CLIP-seq
MIRT2098732	hsa-miR-3941	CLIP-seq
MIRT2098733	hsa-miR-421	CLIP-seq
MIRT2098734	hsa-miR-4251	CLIP-seq
MIRT2098735	hsa-miR-4272	CLIP-seq
MIRT2098736	hsa-miR-4284	CLIP-seq
MIRT2098737	hsa-miR-4290	CLIP-seq
MIRT2098738	hsa-miR-4319	CLIP-seq
MIRT2098739	hsa-miR-4324	CLIP-seq
MIRT2098740	hsa-miR-4446-5p	CLIP-seq
MIRT2098741	hsa-miR-4480	CLIP-seq
MIRT2098742	hsa-miR-4514	CLIP-seq
MIRT2098743	hsa-miR-4530	CLIP-seq
MIRT2098744	hsa-miR-455-5p	CLIP-seq
MIRT2098745	hsa-miR-466	CLIP-seq
MIRT2098746	hsa-miR-4672	CLIP-seq
MIRT2098747	hsa-miR-4682	CLIP-seq
MIRT2098748	hsa-miR-4690-5p	CLIP-seq
MIRT2098749	hsa-miR-4692	CLIP-seq
MIRT2098750	hsa-miR-4709-5p	CLIP-seq
MIRT1333761	hsa-miR-4719	CLIP-seq
MIRT2098751	hsa-miR-4722-5p	CLIP-seq
MIRT2098752	hsa-miR-4727-5p	CLIP-seq
MIRT2098753	hsa-miR-4728-3p	CLIP-seq
MIRT2098754	hsa-miR-4731-3p	CLIP-seq
MIRT2098755	hsa-miR-4755-5p	CLIP-seq
MIRT2098756	hsa-miR-4765	CLIP-seq
MIRT2098757	hsa-miR-4769-3p	CLIP-seq
MIRT2098758	hsa-miR-4772-3p	CLIP-seq
MIRT2098759	hsa-miR-4778-5p	CLIP-seq
MIRT2098760	hsa-miR-4801	CLIP-seq
MIRT1333764	hsa-miR-520a-5p	CLIP-seq
MIRT1333765	hsa-miR-525-5p	CLIP-seq
MIRT2098761	hsa-miR-539	CLIP-seq
MIRT2098762	hsa-miR-544	CLIP-seq
MIRT2098763	hsa-miR-634	CLIP-seq
MIRT2098764	hsa-miR-670	CLIP-seq
MIRT2098765	hsa-miR-708	CLIP-seq
MIRT2098766	hsa-miR-761	CLIP-seq
MIRT2098767	hsa-miR-766	CLIP-seq
MIRT2098768	hsa-miR-935	CLIP-seq
MIRT2098769	hsa-miR-940	CLIP-seq
MIRT2098707	hsa-miR-1205	CLIP-seq
MIRT2098708	hsa-miR-1226	CLIP-seq
MIRT2098709	hsa-miR-1237	CLIP-seq
MIRT2323438	hsa-miR-1248	CLIP-seq
MIRT2098712	hsa-miR-1286	CLIP-seq
MIRT1333745	hsa-miR-145	CLIP-seq
MIRT2323439	hsa-miR-185	CLIP-seq
MIRT2323440	hsa-miR-224	CLIP-seq
MIRT2098716	hsa-miR-2276	CLIP-seq
MIRT1333750	hsa-miR-23a	CLIP-seq
MIRT1333751	hsa-miR-23b	CLIP-seq
MIRT1333752	hsa-miR-23c	CLIP-seq
MIRT2323441	hsa-miR-2467-5p	CLIP-seq
MIRT2098719	hsa-miR-3130-3p	CLIP-seq
MIRT2323442	hsa-miR-3155	CLIP-seq
MIRT2323443	hsa-miR-3155b	CLIP-seq
MIRT2098722	hsa-miR-3173-5p	CLIP-seq
MIRT1333753	hsa-miR-3180-5p	CLIP-seq
MIRT2323444	hsa-miR-3188	CLIP-seq
MIRT2098723	hsa-miR-3200-5p	CLIP-seq
MIRT2323445	hsa-miR-3613-3p	CLIP-seq
MIRT2323446	hsa-miR-3691-3p	CLIP-seq
MIRT2098732	hsa-miR-3941	CLIP-seq
MIRT2323447	hsa-miR-3975	CLIP-seq
MIRT2098733	hsa-miR-421	CLIP-seq
MIRT2098735	hsa-miR-4272	CLIP-seq
MIRT2323448	hsa-miR-4303	CLIP-seq
MIRT2323449	hsa-miR-4306	CLIP-seq
MIRT2323450	hsa-miR-4438	CLIP-seq
MIRT2098741	hsa-miR-4480	CLIP-seq
MIRT2098743	hsa-miR-4530	CLIP-seq
MIRT2323451	hsa-miR-4643	CLIP-seq
MIRT2323452	hsa-miR-4644	CLIP-seq
MIRT2323453	hsa-miR-4649-3p	CLIP-seq
MIRT2098745	hsa-miR-466	CLIP-seq
MIRT2098746	hsa-miR-4672	CLIP-seq
MIRT2098747	hsa-miR-4682	CLIP-seq
MIRT2323454	hsa-miR-4691-5p	CLIP-seq
MIRT2098750	hsa-miR-4709-5p	CLIP-seq
MIRT1333760	hsa-miR-4712-5p	CLIP-seq
MIRT1333761	hsa-miR-4719	CLIP-seq
MIRT2098751	hsa-miR-4722-5p	CLIP-seq
MIRT2323455	hsa-miR-4724-5p	CLIP-seq
MIRT2098752	hsa-miR-4727-5p	CLIP-seq
MIRT2098754	hsa-miR-4731-3p	CLIP-seq
MIRT2098756	hsa-miR-4765	CLIP-seq
MIRT2323456	hsa-miR-4766-3p	CLIP-seq
MIRT2098757	hsa-miR-4769-3p	CLIP-seq
MIRT2098758	hsa-miR-4772-3p	CLIP-seq
MIRT2098759	hsa-miR-4778-5p	CLIP-seq
MIRT2323457	hsa-miR-4789-3p	CLIP-seq
MIRT2098760	hsa-miR-4801	CLIP-seq
MIRT2323458	hsa-miR-484	CLIP-seq
MIRT2323459	hsa-miR-485-5p	CLIP-seq
MIRT2323460	hsa-miR-513a-5p	CLIP-seq
MIRT1333764	hsa-miR-520a-5p	CLIP-seq
MIRT1333765	hsa-miR-525-5p	CLIP-seq
MIRT2098762	hsa-miR-544	CLIP-seq
MIRT2323461	hsa-miR-548aa	CLIP-seq
MIRT2323462	hsa-miR-548p	CLIP-seq
MIRT2323463	hsa-miR-614	CLIP-seq
MIRT2098763	hsa-miR-634	CLIP-seq
MIRT2323464	hsa-miR-648	CLIP-seq
MIRT1333769	hsa-miR-770-5p	CLIP-seq
MIRT2098768	hsa-miR-935	CLIP-seq
MIRT2098743	hsa-miR-4530	CLIP-seq
MIRT2440096	hsa-miR-1206	CLIP-seq
MIRT2440097	hsa-miR-181a	CLIP-seq
MIRT2440098	hsa-miR-181b	CLIP-seq
MIRT2440099	hsa-miR-181c	CLIP-seq
MIRT2440100	hsa-miR-181d	CLIP-seq
MIRT2440101	hsa-miR-4262	CLIP-seq
MIRT2098707	hsa-miR-1205	CLIP-seq
MIRT2440096	hsa-miR-1206	CLIP-seq
MIRT2098708	hsa-miR-1226	CLIP-seq
MIRT2098709	hsa-miR-1237	CLIP-seq
MIRT2323438	hsa-miR-1248	CLIP-seq
MIRT2619301	hsa-miR-1250	CLIP-seq
MIRT2098712	hsa-miR-1286	CLIP-seq
MIRT2619302	hsa-miR-1291	CLIP-seq
MIRT1333746	hsa-miR-15a	CLIP-seq
MIRT1333747	hsa-miR-15b	CLIP-seq
MIRT1333748	hsa-miR-16	CLIP-seq
MIRT2440097	hsa-miR-181a	CLIP-seq
MIRT2440098	hsa-miR-181b	CLIP-seq
MIRT2440099	hsa-miR-181c	CLIP-seq
MIRT2440100	hsa-miR-181d	CLIP-seq
MIRT2323439	hsa-miR-185	CLIP-seq
MIRT1333749	hsa-miR-195	CLIP-seq
MIRT2098714	hsa-miR-197	CLIP-seq
MIRT2098715	hsa-miR-214	CLIP-seq
MIRT2323440	hsa-miR-224	CLIP-seq
MIRT2098716	hsa-miR-2276	CLIP-seq
MIRT2098717	hsa-miR-24	CLIP-seq
MIRT2323441	hsa-miR-2467-5p	CLIP-seq
MIRT2098718	hsa-miR-28-5p	CLIP-seq
MIRT2619303	hsa-miR-3125	CLIP-seq
MIRT2098719	hsa-miR-3130-3p	CLIP-seq
MIRT2098720	hsa-miR-3139	CLIP-seq
MIRT2098721	hsa-miR-3160-5p	CLIP-seq
MIRT2098722	hsa-miR-3173-5p	CLIP-seq
MIRT2323444	hsa-miR-3188	CLIP-seq
MIRT2619304	hsa-miR-328	CLIP-seq
MIRT2098725	hsa-miR-338-3p	CLIP-seq
MIRT2323445	hsa-miR-3613-3p	CLIP-seq
MIRT2098728	hsa-miR-3614-5p	CLIP-seq
MIRT2098729	hsa-miR-3619-5p	CLIP-seq
MIRT2098730	hsa-miR-3670	CLIP-seq
MIRT2098731	hsa-miR-3680	CLIP-seq
MIRT2619305	hsa-miR-3916	CLIP-seq
MIRT2323447	hsa-miR-3975	CLIP-seq
MIRT1333756	hsa-miR-424	CLIP-seq
MIRT2440101	hsa-miR-4262	CLIP-seq
MIRT2098736	hsa-miR-4284	CLIP-seq
MIRT2098737	hsa-miR-4290	CLIP-seq
MIRT2323448	hsa-miR-4303	CLIP-seq
MIRT2323449	hsa-miR-4306	CLIP-seq
MIRT2619306	hsa-miR-4423-5p	CLIP-seq
MIRT2098741	hsa-miR-4480	CLIP-seq
MIRT2098742	hsa-miR-4514	CLIP-seq
MIRT1333759	hsa-miR-4524	CLIP-seq
MIRT2098743	hsa-miR-4530	CLIP-seq
MIRT2323452	hsa-miR-4644	CLIP-seq
MIRT2323453	hsa-miR-4649-3p	CLIP-seq
MIRT2098748	hsa-miR-4690-5p	CLIP-seq
MIRT2098749	hsa-miR-4692	CLIP-seq
MIRT2098751	hsa-miR-4722-5p	CLIP-seq
MIRT2098752	hsa-miR-4727-5p	CLIP-seq
MIRT2619307	hsa-miR-4760-3p	CLIP-seq
MIRT2323456	hsa-miR-4766-3p	CLIP-seq
MIRT2098757	hsa-miR-4769-3p	CLIP-seq
MIRT2098758	hsa-miR-4772-3p	CLIP-seq
MIRT2098759	hsa-miR-4778-5p	CLIP-seq
MIRT2323459	hsa-miR-485-5p	CLIP-seq
MIRT2619308	hsa-miR-488	CLIP-seq
MIRT1333762	hsa-miR-497	CLIP-seq
MIRT1333763	hsa-miR-503	CLIP-seq
MIRT2323460	hsa-miR-513a-5p	CLIP-seq
MIRT2098762	hsa-miR-544	CLIP-seq
MIRT2323461	hsa-miR-548aa	CLIP-seq
MIRT2323462	hsa-miR-548p	CLIP-seq
MIRT2619309	hsa-miR-579	CLIP-seq
MIRT2619310	hsa-miR-607	CLIP-seq
MIRT2098763	hsa-miR-634	CLIP-seq
MIRT1333768	hsa-miR-646	CLIP-seq
MIRT2619311	hsa-miR-664	CLIP-seq
MIRT2098765	hsa-miR-708	CLIP-seq
MIRT2098766	hsa-miR-761	CLIP-seq
MIRT2098767	hsa-miR-766	CLIP-seq
MIRT2098769	hsa-miR-940	CLIP-seq
MIRT2098707	hsa-miR-1205	CLIP-seq
MIRT2098708	hsa-miR-1226	CLIP-seq
MIRT2098709	hsa-miR-1237	CLIP-seq
MIRT2619301	hsa-miR-1250	CLIP-seq
MIRT2098712	hsa-miR-1286	CLIP-seq
MIRT2619302	hsa-miR-1291	CLIP-seq
MIRT2098714	hsa-miR-197	CLIP-seq
MIRT2098715	hsa-miR-214	CLIP-seq
MIRT2098716	hsa-miR-2276	CLIP-seq
MIRT2098718	hsa-miR-28-5p	CLIP-seq
MIRT2098719	hsa-miR-3130-3p	CLIP-seq
MIRT2098720	hsa-miR-3139	CLIP-seq
MIRT2098721	hsa-miR-3160-5p	CLIP-seq
MIRT2098722	hsa-miR-3173-5p	CLIP-seq
MIRT2619304	hsa-miR-328	CLIP-seq
MIRT2098725	hsa-miR-338-3p	CLIP-seq
MIRT2098729	hsa-miR-3619-5p	CLIP-seq
MIRT2098730	hsa-miR-3670	CLIP-seq
MIRT2098737	hsa-miR-4290	CLIP-seq
MIRT2619306	hsa-miR-4423-5p	CLIP-seq
MIRT2098741	hsa-miR-4480	CLIP-seq
MIRT2098742	hsa-miR-4514	CLIP-seq
MIRT2098743	hsa-miR-4530	CLIP-seq
MIRT2098748	hsa-miR-4690-5p	CLIP-seq
MIRT2098749	hsa-miR-4692	CLIP-seq
MIRT2098751	hsa-miR-4722-5p	CLIP-seq
MIRT2098752	hsa-miR-4727-5p	CLIP-seq
MIRT2098757	hsa-miR-4769-3p	CLIP-seq
MIRT2098758	hsa-miR-4772-3p	CLIP-seq
MIRT2098762	hsa-miR-544	CLIP-seq
MIRT2098763	hsa-miR-634	CLIP-seq
MIRT2098765	hsa-miR-708	CLIP-seq
MIRT2098766	hsa-miR-761	CLIP-seq
MIRT2098767	hsa-miR-766	CLIP-seq
MIRT2098769	hsa-miR-940	CLIP-seq

Show/Hide all (28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001514	Process	Selenocysteine incorporation	IBA
GO:0001514	Process	Selenocysteine incorporation	IDA	35709277
GO:0001514	Process	Selenocysteine incorporation	IEA
GO:0001514	Process	Selenocysteine incorporation	IEA
GO:0003677	Function	DNA binding	EXP	19467292
GO:0003723	Function	RNA binding	HDA	22658674
GO:0003723	Function	RNA binding	IEA
GO:0003730	Function	MRNA 3'-UTR binding	IBA
GO:0003730	Function	MRNA 3'-UTR binding	IDA	16962588, 17332014
GO:0005515	Function	Protein binding	IPI	25416956, 32296183, 32814053
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0006401	Process	RNA catabolic process	IEA
GO:0006412	Process	Translation	IEA
GO:0006412	Process	Translation	IEA
GO:0021756	Process	Striatum development	IEA
GO:0021884	Process	Forebrain neuron development	IEA
GO:0035368	Function	Selenocysteine insertion sequence binding	IBA
GO:0035368	Function	Selenocysteine insertion sequence binding	IDA	35709277
GO:0035368	Function	Selenocysteine insertion sequence binding	IEA
GO:0043021	Function	Ribonucleoprotein complex binding	IBA
GO:0043021	Function	Ribonucleoprotein complex binding	IEA
GO:0048255	Process	MRNA stabilization	IEA
GO:1990904	Component	Ribonucleoprotein complex	IBA
GO:1990904	Component	Ribonucleoprotein complex	IEA
GO:2000623	Process	Negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IEA

MIM	HGNC	e!Ensembl
607693	30972	ENSG00000187742

Q96T21

Protein name

Selenocysteine insertion sequence-binding protein 2 (SECIS-binding protein 2)

Protein function

mRNA-binding protein that binds to the SECIS (selenocysteine insertion sequence) element present in the 3'-UTR of mRNAs encoding selenoproteins and facilitates the incorporation of the rare amino acid selenocysteine (PubMed:35709277). Insertion

PDB

7ZJW , 7ZJX

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01248	Ribosomal_L7Ae	657 → 759	Ribosomal protein L7Ae/L30e/S12e/Gadd45 family	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed at high levels in testis. {ECO:0000269|PubMed:12095701}.

Sequence

MASEGPREPESEGIKLSADVKPFVPRFAGLNVAWLESSEACVFPSSAATYYPFVQEPPVT
EQKIYTEDMAFGASTFPPQYLSSEITLHPYAYSPYTLDSTQNVYSVPGSQYLYNQPSCYR
GFQTVKHRNENTCPLPQEMKALFKKKTYDEKKTYDQQKFDSERADGTISSEIKSARGSHH
LSIYAENSLKSDGYHKRTDRKSRIIAKNVSTSKPEFEFTTLDFPELQGAENNMSEIQKQP
KWGPVHSVSTDISLLREVVKPAAVLSKGEIVVKNNPNESVTANAATNSPSCTRELSWTPM
GYVVRQTLSTELSAAPKNVTSMINLKTIASSADPKNVSIPSSEALSSDPSYNKEKHIIHP
TQKSKASQGSDLEQNEASRKNKKKKEKSTSKYEVLTVQEPPRIEDAEEFPNLAVASERRD
RIETPKFQSKQQPQDNFKNNVKKSQLPVQLDLGGMLTALEKKQHSQHAKQSSKPVVVSVG
AVPVLSKECASGERGRRMSQMKTPHNPLDSSAPLMKKGKQREIPKAKKPTSLKKIILKER
QERKQRLQENAVSPAFTSDDTQDGESGGDDQFPEQAELSGPEGMDELISTPSVEDKSEEP
PGTELQRDTEASHLAPNHTTFPKIHSRRFRDYCSQMLSKEVDACVTDLLKELVRFQDRMY
QKDPVKAKTKRRLVLGLREVLKHLKLKKLKCVIISPNCEKIQSKGGLDDTLHTIIDYACE
QNIPFVFALNRKALGRSLNKAVPVSVVGIFSYDGAQDQFHKMVELTVAARQAYKTMLENV
QQELVGEPRPQAPPSLPTQGPSCPAEDGPPALKEKEEPHYIEIWKKHLEAYSGCTLELEE
SLEASTSQMMNLNL

Sequence length

854

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
SECISBP2-related disorder	Likely pathogenic	rs768602040	RCV003414478	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid hormone metabolism, abnormal 1	Likely pathogenic; Pathogenic	rs1477854736, rs777447200, rs200450537, rs119461977, rs730880269, rs763144937, rs2547531853, rs1587875298	RCV001449692 RCV001784955 RCV002280006 RCV000003054 RCV000003055 RCV003331808 RCV003333490 RCV000791253 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
AMINO ACID METABOLISM, INBORN ERRORS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GROWTH DISORDERS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID HORMONE METABOLISM, ABNORMAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID HORMONE METABOLISM, ABNORMAL, 1	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (28)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Amino Acid Metabolism, Inborn Errors	Disorder of amino acid metabolism	CTD_human_DG	16228000		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amino Acid Metabolism, Inherited Disorders	Inherited Errors of Amino Acid Metabolism	CTD_human_DG	16228000		★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	29882503	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	36530957	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	20378690		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	30286747		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	32084277	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	17109383		★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	19602558	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Learning Disabilities	Learning disorders	Pubtator	39315526	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	21084748, 31826256		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	19905883, 22708491		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	27473727		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	29882503	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	30286747	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Short stature-delayed bone age due to thyroid hormone metabolism deficiency	Short Stature-Delayed Bone Age	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid disease	Pubtator	19602558	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Diseases	Thyroid Diseases	BEFREE	19769464		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Hormone Metabolism Abnormal	Thyroid hormone metabolism disorder	Pubtator	29882503, 32084277	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Hormone Metabolism, Abnormal	Thyroid Hormone Metabolism	BEFREE	16228000, 21670677, 29882503		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Hormone Metabolism, Abnormal	Thyroid Hormone Metabolism	GENOMICS_ENGLAND_DG	16228000, 21084748		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Hormone Metabolism, Abnormal	Thyroid Hormone Metabolism	UNIPROT_DG	16228000		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Hormone Metabolism, Abnormal	Thyroid Hormone Metabolism	ORPHANET_DG	16228000, 19602558		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Hormone Metabolism, Abnormal	Thyroid Hormone Metabolism	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Hormone Metabolism, Abnormal	Thyroid Hormone Metabolism	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Hormone Resistance Syndrome	Thyroid hormone resistance	Pubtator	39315526	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	Pubtator	19265499, 32084277	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

SECISBP2 (SECIS binding protein 2)