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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8573
Gene name	Calcium/calmodulin dependent serine protein kinase
Gene symbol	CASK
Synonyms (NCBI Gene)	CAGH39CAMGUKCMGFGS4LIN2MICPCHMRXSNATNRC8hCASK
Chromosome	X
Chromosome location	Xp11.4
Summary	This gene encodes a calcium/calmodulin-dependent serine protein kinase. The encoded protein is a MAGUK (membrane-associated guanylate kinase) protein family member. These proteins are scaffold proteins and the encoded protein is located at synapses in the

107

Show/Hide all (107)

SNP ID	Visualize variation	Clinical significance	Consequence
rs5964007	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs76106850	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs137852815	G>A	Pathogenic	Coding sequence variant, stop gained
rs137852816	C>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852817	A>G	Pathogenic	Coding sequence variant, missense variant
rs137852818	T>C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs137852819	A>G	Pathogenic	Coding sequence variant, missense variant
rs137852820	G>A,C	Pathogenic, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, missense variant
rs137964936	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs141840001	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs145641295	C>T	Conflicting-interpretations-of-pathogenicity, benign, benign-likely-benign	Synonymous variant, coding sequence variant
rs200402760	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant
rs375004542	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs377590077	C>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, coding sequence variant
rs387906499	C>T	Pathogenic	Synonymous variant, coding sequence variant
rs387906704	G>A	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs387906705	G>A	Pathogenic	Stop gained, coding sequence variant
rs398122844	T>C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs398122845	T>A,C	Likely-pathogenic, pathogenic, benign	Splice acceptor variant
rs544979992	T>C	Benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs587783357	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs587783360	G>A	Pathogenic	Stop gained, coding sequence variant
rs587783361	G>A	Pathogenic-likely-pathogenic	Stop gained, coding sequence variant
rs587783362	CTCGAACA>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs587783364	G>A	Pathogenic	Stop gained, coding sequence variant
rs587783366	T>A	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs587783368	C>T	Pathogenic	Splice donor variant
rs587783369	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs587783370	G>A	Pathogenic, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, stop gained, coding sequence variant
rs587783371	G>A	Pathogenic	Stop gained, coding sequence variant
rs727503840	C>T	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs727505397	C>T	Pathogenic	Missense variant, coding sequence variant
rs746017736	C>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs746809939	G>-,GG	Conflicting-interpretations-of-pathogenicity	Intron variant
rs747587301	G>A,C	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs749742837	G>A,C	Not-provided, pathogenic	Missense variant, stop gained, coding sequence variant
rs759736132	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs779508996	G>A,T	Pathogenic	Coding sequence variant, stop gained, intron variant, synonymous variant
rs794727270	G>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs797045431	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs797045433	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs863224854	T>C	Pathogenic	Splice acceptor variant
rs886039474	C>T	Pathogenic	Stop gained, coding sequence variant
rs886039651	T>A	Pathogenic	Stop gained, coding sequence variant
rs886039702	C>T	Pathogenic	Stop gained, coding sequence variant
rs886041153	C>T	Pathogenic	Splice donor variant, genic upstream transcript variant
rs886041284	->C	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs886041306	A>C	Pathogenic	Stop gained, coding sequence variant
rs886041645	->T	Pathogenic	Frameshift variant, coding sequence variant
rs886128077	G>A,C,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs1021128001	G>A,T	Likely-pathogenic	Coding sequence variant, synonymous variant, genic upstream transcript variant, stop gained
rs1057517923	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518245	G>A	Pathogenic	Coding sequence variant, stop gained
rs1057521754	C>G	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs1057523820	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057524485	T>G	Pathogenic	Splice acceptor variant
rs1064794937	G>A	Pathogenic	Missense variant, coding sequence variant
rs1064796344	A>G	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1064796488	ACT>-	Pathogenic	Coding sequence variant, inframe deletion
rs1064796879	G>A	Not-provided, pathogenic	Coding sequence variant, stop gained
rs1064796884	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1114167352	G>A	Not-provided, likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1135401762	A>-	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1555971887	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555972599	C>A	Pathogenic	Splice donor variant
rs1555972628	AA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555975458	C>T	Pathogenic	Splice donor variant
rs1555975523	C>AT	Likely-pathogenic	Splice donor variant
rs1555977195	A>G	Pathogenic	Splice donor variant
rs1555977199	C>G	Likely-pathogenic	Splice donor variant
rs1555977248	T>A	Pathogenic	Stop gained, coding sequence variant
rs1555977269	C>T	Pathogenic	Splice acceptor variant
rs1555980033	C>A	Pathogenic	Stop gained, coding sequence variant
rs1555981717	G>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs1555981722	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555986221	T>C	Pathogenic	Intron variant
rs1555989338	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556000257	C>T	Likely-pathogenic	Intron variant, splice donor variant
rs1556004104	->T	Pathogenic	Stop gained, coding sequence variant
rs1556014749	A>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1556014805	CTGGTGCCATAAA>-	Pathogenic	Initiator codon variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1556016347	C>G	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1556121448	C>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1556254569	G>A	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs1556313509	->C	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1556313516	T>A	Pathogenic	Initiator codon variant, genic upstream transcript variant, missense variant
rs1569283243	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1569288603	GT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1569291261	C>T	Likely-pathogenic	Splice acceptor variant, intron variant
rs1569295677	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1569302194	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1569306724	TTTG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569350501	C>G	Pathogenic	Splice donor variant
rs1569380062	T>C	Pathogenic	Splice acceptor variant
rs1569429756	T>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1602220170	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1602253464	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1602253509	C>T	Pathogenic	Coding sequence variant, stop gained
rs1602292076	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1602292205	GGAGGAGGTG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602386709	->TT	Pathogenic	Coding sequence variant, frameshift variant
rs1602424764	C>T	Pathogenic	Coding sequence variant, stop gained
rs1602424843	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1602424869	CAGCATC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602431663	GGTGTT>CACCTACGTCATTTATGTAGGA	Pathogenic	Coding sequence variant, stop gained, inframe indel, 5 prime UTR variant
rs1602550687	T>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1602560972	CCAT>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant

515

Show/Hide all (515)

miRTarBase ID	miRNA	Experiments	Reference
MIRT031989	hsa-miR-16-5p	Proteomics	18668040
MIRT054155	hsa-miR-203a-3p	Luciferase reporter assayqRT-PCRWestern blot	25373785
MIRT054155	hsa-miR-203a-3p	Luciferase reporter assayqRT-PCRWestern blot	25373785
MIRT508645	hsa-miR-3908	HITS-CLIP	22927820
MIRT508644	hsa-miR-15a-5p	HITS-CLIP	22927820
MIRT508643	hsa-miR-15b-5p	HITS-CLIP	22927820
MIRT031989	hsa-miR-16-5p	HITS-CLIP	22927820
MIRT508642	hsa-miR-195-5p	HITS-CLIP	22927820
MIRT508641	hsa-miR-424-5p	HITS-CLIP	22927820
MIRT508640	hsa-miR-497-5p	HITS-CLIP	22927820
MIRT508639	hsa-miR-6838-5p	HITS-CLIP	22927820
MIRT706165	hsa-miR-503-5p	HITS-CLIP	22927820
MIRT706164	hsa-miR-646	HITS-CLIP	22927820
MIRT558957	hsa-miR-4274	HITS-CLIP	22927820
MIRT558956	hsa-miR-4519	HITS-CLIP	22927820
MIRT706163	hsa-miR-4524a-5p	HITS-CLIP	22927820
MIRT706162	hsa-miR-4524b-5p	HITS-CLIP	22927820
MIRT508645	hsa-miR-3908	PAR-CLIP	21572407
MIRT558957	hsa-miR-4274	PAR-CLIP	21572407
MIRT558956	hsa-miR-4519	PAR-CLIP	21572407
MIRT508639	hsa-miR-6838-5p	PAR-CLIP	23446348
MIRT508641	hsa-miR-424-5p	PAR-CLIP	23446348
MIRT508640	hsa-miR-497-5p	PAR-CLIP	23446348
MIRT508642	hsa-miR-195-5p	PAR-CLIP	23446348
MIRT508644	hsa-miR-15a-5p	PAR-CLIP	23446348
MIRT508643	hsa-miR-15b-5p	PAR-CLIP	23446348
MIRT031989	hsa-miR-16-5p	PAR-CLIP	23446348
MIRT508646	hsa-miR-4724-5p	PAR-CLIP	23446348
MIRT508645	hsa-miR-3908	PAR-CLIP	23446348
MIRT508646	hsa-miR-4724-5p	PAR-CLIP	23446348
MIRT508645	hsa-miR-3908	PAR-CLIP	23446348
MIRT508644	hsa-miR-15a-5p	PAR-CLIP	23446348
MIRT508643	hsa-miR-15b-5p	PAR-CLIP	23446348
MIRT031989	hsa-miR-16-5p	PAR-CLIP	23446348
MIRT508642	hsa-miR-195-5p	PAR-CLIP	23446348
MIRT508641	hsa-miR-424-5p	PAR-CLIP	23446348
MIRT508640	hsa-miR-497-5p	PAR-CLIP	23446348
MIRT508639	hsa-miR-6838-5p	PAR-CLIP	23446348
MIRT508644	hsa-miR-15a-5p	PAR-CLIP	27292025
MIRT508644	hsa-miR-15a-5p	PAR-CLIP	27292025
MIRT508644	hsa-miR-15a-5p	PAR-CLIP	27292025
MIRT508644	hsa-miR-15a-5p	PAR-CLIP	27292025
MIRT508643	hsa-miR-15b-5p	PAR-CLIP	27292025
MIRT508643	hsa-miR-15b-5p	PAR-CLIP	27292025
MIRT508643	hsa-miR-15b-5p	PAR-CLIP	27292025
MIRT508643	hsa-miR-15b-5p	PAR-CLIP	27292025
MIRT031989	hsa-miR-16-5p	PAR-CLIP	27292025
MIRT031989	hsa-miR-16-5p	PAR-CLIP	27292025
MIRT031989	hsa-miR-16-5p	PAR-CLIP	27292025
MIRT031989	hsa-miR-16-5p	PAR-CLIP	27292025
MIRT508642	hsa-miR-195-5p	PAR-CLIP	27292025
MIRT508642	hsa-miR-195-5p	PAR-CLIP	27292025
MIRT508642	hsa-miR-195-5p	PAR-CLIP	27292025
MIRT508642	hsa-miR-195-5p	PAR-CLIP	27292025
MIRT508645	hsa-miR-3908	PAR-CLIP	27292025
MIRT508645	hsa-miR-3908	PAR-CLIP	27292025
MIRT508645	hsa-miR-3908	PAR-CLIP	27292025
MIRT508645	hsa-miR-3908	PAR-CLIP	27292025
MIRT508641	hsa-miR-424-5p	PAR-CLIP	27292025
MIRT508641	hsa-miR-424-5p	PAR-CLIP	27292025
MIRT508641	hsa-miR-424-5p	PAR-CLIP	27292025
MIRT508641	hsa-miR-424-5p	PAR-CLIP	27292025
MIRT558957	hsa-miR-4274	PAR-CLIP	27292025
MIRT558956	hsa-miR-4519	PAR-CLIP	27292025
MIRT575877	hsa-miR-4524a-5p	PAR-CLIP	27292025
MIRT575877	hsa-miR-4524a-5p	PAR-CLIP	27292025
MIRT575877	hsa-miR-4524a-5p	PAR-CLIP	27292025
MIRT575877	hsa-miR-4524a-5p	PAR-CLIP	27292025
MIRT575876	hsa-miR-4524b-5p	PAR-CLIP	27292025
MIRT575876	hsa-miR-4524b-5p	PAR-CLIP	27292025
MIRT575876	hsa-miR-4524b-5p	PAR-CLIP	27292025
MIRT575876	hsa-miR-4524b-5p	PAR-CLIP	27292025
MIRT508640	hsa-miR-497-5p	PAR-CLIP	27292025
MIRT508640	hsa-miR-497-5p	PAR-CLIP	27292025
MIRT508640	hsa-miR-497-5p	PAR-CLIP	27292025
MIRT508640	hsa-miR-497-5p	PAR-CLIP	27292025
MIRT575879	hsa-miR-503-5p	PAR-CLIP	27292025
MIRT575879	hsa-miR-503-5p	PAR-CLIP	27292025
MIRT575879	hsa-miR-503-5p	PAR-CLIP	27292025
MIRT575879	hsa-miR-503-5p	PAR-CLIP	27292025
MIRT575878	hsa-miR-646	PAR-CLIP	27292025
MIRT575878	hsa-miR-646	PAR-CLIP	27292025
MIRT575878	hsa-miR-646	PAR-CLIP	27292025
MIRT575878	hsa-miR-646	PAR-CLIP	27292025
MIRT508639	hsa-miR-6838-5p	PAR-CLIP	27292025
MIRT508639	hsa-miR-6838-5p	PAR-CLIP	27292025
MIRT508639	hsa-miR-6838-5p	PAR-CLIP	27292025
MIRT508639	hsa-miR-6838-5p	PAR-CLIP	27292025
MIRT508644	hsa-miR-15a-5p	HITS-CLIP	27418678
MIRT508643	hsa-miR-15b-5p	HITS-CLIP	27418678
MIRT031989	hsa-miR-16-5p	HITS-CLIP	27418678
MIRT508642	hsa-miR-195-5p	HITS-CLIP	27418678
MIRT508645	hsa-miR-3908	HITS-CLIP	27418678
MIRT508641	hsa-miR-424-5p	HITS-CLIP	27418678
MIRT575877	hsa-miR-4524a-5p	HITS-CLIP	27418678
MIRT575876	hsa-miR-4524b-5p	HITS-CLIP	27418678
MIRT508640	hsa-miR-497-5p	HITS-CLIP	27418678
MIRT575879	hsa-miR-503-5p	HITS-CLIP	27418678
MIRT575878	hsa-miR-646	HITS-CLIP	27418678
MIRT508639	hsa-miR-6838-5p	HITS-CLIP	27418678
MIRT508644	hsa-miR-15a-5p	HITS-CLIP	28735896
MIRT508644	hsa-miR-15a-5p	HITS-CLIP	28735896
MIRT508644	hsa-miR-15a-5p	HITS-CLIP	28735896
MIRT508644	hsa-miR-15a-5p	HITS-CLIP	28735896
MIRT508644	hsa-miR-15a-5p	HITS-CLIP	28735896
MIRT508643	hsa-miR-15b-5p	HITS-CLIP	28735896
MIRT508643	hsa-miR-15b-5p	HITS-CLIP	28735896
MIRT508643	hsa-miR-15b-5p	HITS-CLIP	28735896
MIRT508643	hsa-miR-15b-5p	HITS-CLIP	28735896
MIRT508643	hsa-miR-15b-5p	HITS-CLIP	28735896
MIRT031989	hsa-miR-16-5p	HITS-CLIP	28735896
MIRT031989	hsa-miR-16-5p	HITS-CLIP	28735896
MIRT031989	hsa-miR-16-5p	HITS-CLIP	28735896
MIRT031989	hsa-miR-16-5p	HITS-CLIP	28735896
MIRT031989	hsa-miR-16-5p	HITS-CLIP	28735896
MIRT508642	hsa-miR-195-5p	HITS-CLIP	28735896
MIRT508642	hsa-miR-195-5p	HITS-CLIP	28735896
MIRT508642	hsa-miR-195-5p	HITS-CLIP	28735896
MIRT508642	hsa-miR-195-5p	HITS-CLIP	28735896
MIRT508642	hsa-miR-195-5p	HITS-CLIP	28735896
MIRT508645	hsa-miR-3908	HITS-CLIP	28735896
MIRT508645	hsa-miR-3908	HITS-CLIP	28735896
MIRT508645	hsa-miR-3908	HITS-CLIP	28735896
MIRT508641	hsa-miR-424-5p	HITS-CLIP	28735896
MIRT508641	hsa-miR-424-5p	HITS-CLIP	28735896
MIRT508641	hsa-miR-424-5p	HITS-CLIP	28735896
MIRT508641	hsa-miR-424-5p	HITS-CLIP	28735896
MIRT508641	hsa-miR-424-5p	HITS-CLIP	28735896
MIRT575877	hsa-miR-4524a-5p	HITS-CLIP	28735896
MIRT575877	hsa-miR-4524a-5p	HITS-CLIP	28735896
MIRT575877	hsa-miR-4524a-5p	HITS-CLIP	28735896
MIRT575876	hsa-miR-4524b-5p	HITS-CLIP	28735896
MIRT575876	hsa-miR-4524b-5p	HITS-CLIP	28735896
MIRT575876	hsa-miR-4524b-5p	HITS-CLIP	28735896
MIRT508646	hsa-miR-4724-5p	HITS-CLIP	28735896
MIRT508640	hsa-miR-497-5p	HITS-CLIP	28735896
MIRT508640	hsa-miR-497-5p	HITS-CLIP	28735896
MIRT508640	hsa-miR-497-5p	HITS-CLIP	28735896
MIRT508640	hsa-miR-497-5p	HITS-CLIP	28735896
MIRT508640	hsa-miR-497-5p	HITS-CLIP	28735896
MIRT575879	hsa-miR-503-5p	HITS-CLIP	28735896
MIRT575879	hsa-miR-503-5p	HITS-CLIP	28735896
MIRT575879	hsa-miR-503-5p	HITS-CLIP	28735896
MIRT575878	hsa-miR-646	HITS-CLIP	28735896
MIRT575878	hsa-miR-646	HITS-CLIP	28735896
MIRT575878	hsa-miR-646	HITS-CLIP	28735896
MIRT508639	hsa-miR-6838-5p	HITS-CLIP	28735896
MIRT508639	hsa-miR-6838-5p	HITS-CLIP	28735896
MIRT508639	hsa-miR-6838-5p	HITS-CLIP	28735896
MIRT508639	hsa-miR-6838-5p	HITS-CLIP	28735896
MIRT508639	hsa-miR-6838-5p	HITS-CLIP	28735896
MIRT733814	hsa-miR-451b	qRT-PCRWestern blotting	33725258
MIRT508645	hsa-miR-3908	HITS-CLIP	22927820
MIRT508644	hsa-miR-15a-5p	HITS-CLIP	22927820
MIRT508643	hsa-miR-15b-5p	HITS-CLIP	22927820
MIRT031989	hsa-miR-16-5p	HITS-CLIP	22927820
MIRT508642	hsa-miR-195-5p	HITS-CLIP	22927820
MIRT508641	hsa-miR-424-5p	HITS-CLIP	22927820
MIRT508640	hsa-miR-497-5p	HITS-CLIP	22927820
MIRT508639	hsa-miR-6838-5p	HITS-CLIP	22927820
MIRT575879	hsa-miR-503-5p	HITS-CLIP	22927820
MIRT575878	hsa-miR-646	HITS-CLIP	22927820
MIRT558957	hsa-miR-4274	HITS-CLIP	22927820
MIRT558956	hsa-miR-4519	HITS-CLIP	22927820
MIRT575877	hsa-miR-4524a-5p	HITS-CLIP	22927820
MIRT575876	hsa-miR-4524b-5p	HITS-CLIP	22927820
MIRT508645	hsa-miR-3908	PAR-CLIP	21572407
MIRT558957	hsa-miR-4274	PAR-CLIP	21572407
MIRT558956	hsa-miR-4519	PAR-CLIP	21572407
MIRT508639	hsa-miR-6838-5p	PAR-CLIP	23446348
MIRT508641	hsa-miR-424-5p	PAR-CLIP	23446348
MIRT508640	hsa-miR-497-5p	PAR-CLIP	23446348
MIRT508642	hsa-miR-195-5p	PAR-CLIP	23446348
MIRT508644	hsa-miR-15a-5p	PAR-CLIP	23446348
MIRT508643	hsa-miR-15b-5p	PAR-CLIP	23446348
MIRT031989	hsa-miR-16-5p	PAR-CLIP	23446348
MIRT508646	hsa-miR-4724-5p	PAR-CLIP	23446348
MIRT508645	hsa-miR-3908	PAR-CLIP	23446348
MIRT508646	hsa-miR-4724-5p	PAR-CLIP	23446348
MIRT508645	hsa-miR-3908	PAR-CLIP	23446348
MIRT508644	hsa-miR-15a-5p	PAR-CLIP	23446348
MIRT508643	hsa-miR-15b-5p	PAR-CLIP	23446348
MIRT031989	hsa-miR-16-5p	PAR-CLIP	23446348
MIRT508642	hsa-miR-195-5p	PAR-CLIP	23446348
MIRT508641	hsa-miR-424-5p	PAR-CLIP	23446348
MIRT508640	hsa-miR-497-5p	PAR-CLIP	23446348
MIRT508639	hsa-miR-6838-5p	PAR-CLIP	23446348
MIRT863409	hsa-miR-105	CLIP-seq
MIRT863410	hsa-miR-1207-5p	CLIP-seq
MIRT863411	hsa-miR-1270	CLIP-seq
MIRT863412	hsa-miR-1273f	CLIP-seq
MIRT863413	hsa-miR-1293	CLIP-seq
MIRT863414	hsa-miR-1343	CLIP-seq
MIRT863415	hsa-miR-143	CLIP-seq
MIRT863416	hsa-miR-144	CLIP-seq
MIRT863417	hsa-miR-15a	CLIP-seq
MIRT863418	hsa-miR-15b	CLIP-seq
MIRT863419	hsa-miR-16	CLIP-seq
MIRT863420	hsa-miR-194	CLIP-seq
MIRT863421	hsa-miR-195	CLIP-seq
MIRT863422	hsa-miR-203	CLIP-seq
MIRT863423	hsa-miR-204	CLIP-seq
MIRT863424	hsa-miR-2052	CLIP-seq
MIRT863425	hsa-miR-2054	CLIP-seq
MIRT863426	hsa-miR-211	CLIP-seq
MIRT863427	hsa-miR-25	CLIP-seq
MIRT863428	hsa-miR-299-3p	CLIP-seq
MIRT863429	hsa-miR-3119	CLIP-seq
MIRT863430	hsa-miR-3128	CLIP-seq
MIRT863431	hsa-miR-3130-3p	CLIP-seq
MIRT863432	hsa-miR-3138	CLIP-seq
MIRT863433	hsa-miR-3188	CLIP-seq
MIRT863434	hsa-miR-3194-3p	CLIP-seq
MIRT863435	hsa-miR-32	CLIP-seq
MIRT863436	hsa-miR-326	CLIP-seq
MIRT863437	hsa-miR-329	CLIP-seq
MIRT863438	hsa-miR-330-5p	CLIP-seq
MIRT863439	hsa-miR-34b	CLIP-seq
MIRT863440	hsa-miR-34c-3p	CLIP-seq
MIRT863441	hsa-miR-361-3p	CLIP-seq
MIRT863442	hsa-miR-362-3p	CLIP-seq
MIRT863443	hsa-miR-363	CLIP-seq
MIRT863444	hsa-miR-3661	CLIP-seq
MIRT863445	hsa-miR-367	CLIP-seq
MIRT863446	hsa-miR-3681	CLIP-seq
MIRT863447	hsa-miR-3690	CLIP-seq
MIRT863448	hsa-miR-370	CLIP-seq
MIRT863449	hsa-miR-3920	CLIP-seq
MIRT863450	hsa-miR-3921	CLIP-seq
MIRT863451	hsa-miR-3922-5p	CLIP-seq
MIRT863452	hsa-miR-3942-5p	CLIP-seq
MIRT863453	hsa-miR-424	CLIP-seq
MIRT863454	hsa-miR-4254	CLIP-seq
MIRT863455	hsa-miR-4265	CLIP-seq
MIRT863456	hsa-miR-4267	CLIP-seq
MIRT863457	hsa-miR-4287	CLIP-seq
MIRT863458	hsa-miR-4289	CLIP-seq
MIRT863459	hsa-miR-4296	CLIP-seq
MIRT863460	hsa-miR-4310	CLIP-seq
MIRT863461	hsa-miR-4317	CLIP-seq
MIRT863462	hsa-miR-4322	CLIP-seq
MIRT863463	hsa-miR-4328	CLIP-seq
MIRT863464	hsa-miR-4417	CLIP-seq
MIRT863465	hsa-miR-4457	CLIP-seq
MIRT863466	hsa-miR-4460	CLIP-seq
MIRT863467	hsa-miR-4483	CLIP-seq
MIRT863468	hsa-miR-452	CLIP-seq
MIRT863469	hsa-miR-4524	CLIP-seq
MIRT863470	hsa-miR-4653-5p	CLIP-seq
MIRT863471	hsa-miR-4659a-3p	CLIP-seq
MIRT863472	hsa-miR-4659b-3p	CLIP-seq
MIRT863473	hsa-miR-4676-3p	CLIP-seq
MIRT863474	hsa-miR-4683	CLIP-seq
MIRT863475	hsa-miR-4685-3p	CLIP-seq
MIRT863476	hsa-miR-4698	CLIP-seq
MIRT863477	hsa-miR-4703-5p	CLIP-seq
MIRT863478	hsa-miR-4704-3p	CLIP-seq
MIRT863479	hsa-miR-4704-5p	CLIP-seq
MIRT863480	hsa-miR-4708-3p	CLIP-seq
MIRT863481	hsa-miR-4708-5p	CLIP-seq
MIRT863482	hsa-miR-4712-3p	CLIP-seq
MIRT863483	hsa-miR-4720-5p	CLIP-seq
MIRT863484	hsa-miR-4727-3p	CLIP-seq
MIRT863485	hsa-miR-4731-3p	CLIP-seq
MIRT863486	hsa-miR-4736	CLIP-seq
MIRT863487	hsa-miR-4753-3p	CLIP-seq
MIRT863488	hsa-miR-4761-5p	CLIP-seq
MIRT863489	hsa-miR-4763-3p	CLIP-seq
MIRT863490	hsa-miR-4763-5p	CLIP-seq
MIRT863491	hsa-miR-4764-5p	CLIP-seq
MIRT863492	hsa-miR-4766-3p	CLIP-seq
MIRT863493	hsa-miR-4766-5p	CLIP-seq
MIRT863494	hsa-miR-4768-5p	CLIP-seq
MIRT863495	hsa-miR-4770	CLIP-seq
MIRT863496	hsa-miR-4799-3p	CLIP-seq
MIRT863497	hsa-miR-4801	CLIP-seq
MIRT863498	hsa-miR-495	CLIP-seq
MIRT863499	hsa-miR-497	CLIP-seq
MIRT863500	hsa-miR-503	CLIP-seq
MIRT863501	hsa-miR-516b	CLIP-seq
MIRT863502	hsa-miR-522	CLIP-seq
MIRT863503	hsa-miR-548ac	CLIP-seq
MIRT863504	hsa-miR-548ae	CLIP-seq
MIRT863505	hsa-miR-548ag	CLIP-seq
MIRT863506	hsa-miR-548ai	CLIP-seq
MIRT863507	hsa-miR-548aj	CLIP-seq
MIRT863508	hsa-miR-548am	CLIP-seq
MIRT863509	hsa-miR-548d-3p	CLIP-seq
MIRT863510	hsa-miR-548g	CLIP-seq
MIRT863511	hsa-miR-548p	CLIP-seq
MIRT863512	hsa-miR-548x	CLIP-seq
MIRT863513	hsa-miR-548z	CLIP-seq
MIRT863514	hsa-miR-569	CLIP-seq
MIRT863515	hsa-miR-576-3p	CLIP-seq
MIRT863516	hsa-miR-578	CLIP-seq
MIRT863517	hsa-miR-582-3p	CLIP-seq
MIRT863518	hsa-miR-583	CLIP-seq
MIRT863519	hsa-miR-586	CLIP-seq
MIRT863520	hsa-miR-593	CLIP-seq
MIRT863521	hsa-miR-620	CLIP-seq
MIRT863522	hsa-miR-628-5p	CLIP-seq
MIRT863523	hsa-miR-631	CLIP-seq
MIRT863524	hsa-miR-634	CLIP-seq
MIRT863525	hsa-miR-642b	CLIP-seq
MIRT863526	hsa-miR-7	CLIP-seq
MIRT863527	hsa-miR-876-3p	CLIP-seq
MIRT863528	hsa-miR-92a	CLIP-seq
MIRT863529	hsa-miR-92b	CLIP-seq
MIRT863530	hsa-miR-943	CLIP-seq
MIRT863531	hsa-miR-944	CLIP-seq
MIRT863417	hsa-miR-15a	CLIP-seq
MIRT863418	hsa-miR-15b	CLIP-seq
MIRT863419	hsa-miR-16	CLIP-seq
MIRT863421	hsa-miR-195	CLIP-seq
MIRT863453	hsa-miR-424	CLIP-seq
MIRT863469	hsa-miR-4524	CLIP-seq
MIRT863499	hsa-miR-497	CLIP-seq
MIRT863500	hsa-miR-503	CLIP-seq
MIRT863417	hsa-miR-15a	CLIP-seq
MIRT863418	hsa-miR-15b	CLIP-seq
MIRT863419	hsa-miR-16	CLIP-seq
MIRT863421	hsa-miR-195	CLIP-seq
MIRT863424	hsa-miR-2052	CLIP-seq
MIRT1956015	hsa-miR-216b	CLIP-seq
MIRT1956016	hsa-miR-2392	CLIP-seq
MIRT863429	hsa-miR-3119	CLIP-seq
MIRT863432	hsa-miR-3138	CLIP-seq
MIRT863433	hsa-miR-3188	CLIP-seq
MIRT863440	hsa-miR-34c-3p	CLIP-seq
MIRT1956017	hsa-miR-3605-5p	CLIP-seq
MIRT1956018	hsa-miR-3653	CLIP-seq
MIRT1956019	hsa-miR-3658	CLIP-seq
MIRT1956020	hsa-miR-3667-5p	CLIP-seq
MIRT1956021	hsa-miR-3671	CLIP-seq
MIRT1956022	hsa-miR-3675-3p	CLIP-seq
MIRT863446	hsa-miR-3681	CLIP-seq
MIRT1956023	hsa-miR-3692	CLIP-seq
MIRT1956024	hsa-miR-377	CLIP-seq
MIRT1956025	hsa-miR-3907	CLIP-seq
MIRT863449	hsa-miR-3920	CLIP-seq
MIRT863450	hsa-miR-3921	CLIP-seq
MIRT863451	hsa-miR-3922-5p	CLIP-seq
MIRT863453	hsa-miR-424	CLIP-seq
MIRT1956026	hsa-miR-4264	CLIP-seq
MIRT863463	hsa-miR-4328	CLIP-seq
MIRT1956027	hsa-miR-4330	CLIP-seq
MIRT1956028	hsa-miR-4422	CLIP-seq
MIRT863465	hsa-miR-4457	CLIP-seq
MIRT863466	hsa-miR-4460	CLIP-seq
MIRT863468	hsa-miR-452	CLIP-seq
MIRT863469	hsa-miR-4524	CLIP-seq
MIRT1956029	hsa-miR-4652-3p	CLIP-seq
MIRT863470	hsa-miR-4653-5p	CLIP-seq
MIRT1956030	hsa-miR-4675	CLIP-seq
MIRT863473	hsa-miR-4676-3p	CLIP-seq
MIRT1956031	hsa-miR-4719	CLIP-seq
MIRT863484	hsa-miR-4727-3p	CLIP-seq
MIRT863485	hsa-miR-4731-3p	CLIP-seq
MIRT1956032	hsa-miR-4738-3p	CLIP-seq
MIRT1956033	hsa-miR-4741	CLIP-seq
MIRT863487	hsa-miR-4753-3p	CLIP-seq
MIRT1956034	hsa-miR-4762-5p	CLIP-seq
MIRT863490	hsa-miR-4763-5p	CLIP-seq
MIRT863494	hsa-miR-4768-5p	CLIP-seq
MIRT863497	hsa-miR-4801	CLIP-seq
MIRT863498	hsa-miR-495	CLIP-seq
MIRT863499	hsa-miR-497	CLIP-seq
MIRT863500	hsa-miR-503	CLIP-seq
MIRT1956035	hsa-miR-543	CLIP-seq
MIRT863518	hsa-miR-583	CLIP-seq
MIRT863519	hsa-miR-586	CLIP-seq
MIRT1956036	hsa-miR-607	CLIP-seq
MIRT1956037	hsa-miR-633	CLIP-seq
MIRT863525	hsa-miR-642b	CLIP-seq
MIRT863530	hsa-miR-943	CLIP-seq
MIRT863414	hsa-miR-1343	CLIP-seq
MIRT863417	hsa-miR-15a	CLIP-seq
MIRT863418	hsa-miR-15b	CLIP-seq
MIRT863419	hsa-miR-16	CLIP-seq
MIRT863421	hsa-miR-195	CLIP-seq
MIRT863437	hsa-miR-329	CLIP-seq
MIRT863442	hsa-miR-362-3p	CLIP-seq
MIRT2193641	hsa-miR-3680	CLIP-seq
MIRT863453	hsa-miR-424	CLIP-seq
MIRT863463	hsa-miR-4328	CLIP-seq
MIRT2193642	hsa-miR-4789-3p	CLIP-seq
MIRT2193643	hsa-miR-4798-3p	CLIP-seq
MIRT863499	hsa-miR-497	CLIP-seq
MIRT2193644	hsa-miR-532-5p	CLIP-seq
MIRT1956035	hsa-miR-543	CLIP-seq
MIRT2193645	hsa-miR-140-3p	CLIP-seq
MIRT863417	hsa-miR-15a	CLIP-seq
MIRT863418	hsa-miR-15b	CLIP-seq
MIRT863419	hsa-miR-16	CLIP-seq
MIRT863421	hsa-miR-195	CLIP-seq
MIRT863424	hsa-miR-2052	CLIP-seq
MIRT2193646	hsa-miR-2355-3p	CLIP-seq
MIRT863429	hsa-miR-3119	CLIP-seq
MIRT2193647	hsa-miR-3126-3p	CLIP-seq
MIRT863433	hsa-miR-3188	CLIP-seq
MIRT863437	hsa-miR-329	CLIP-seq
MIRT863440	hsa-miR-34c-3p	CLIP-seq
MIRT863442	hsa-miR-362-3p	CLIP-seq
MIRT1956023	hsa-miR-3692	CLIP-seq
MIRT1956025	hsa-miR-3907	CLIP-seq
MIRT863451	hsa-miR-3922-5p	CLIP-seq
MIRT2193648	hsa-miR-3925-3p	CLIP-seq
MIRT2193649	hsa-miR-3935	CLIP-seq
MIRT2193650	hsa-miR-3938	CLIP-seq
MIRT863453	hsa-miR-424	CLIP-seq
MIRT2193651	hsa-miR-4266	CLIP-seq
MIRT1956027	hsa-miR-4330	CLIP-seq
MIRT2193652	hsa-miR-4445	CLIP-seq
MIRT863465	hsa-miR-4457	CLIP-seq
MIRT863469	hsa-miR-4524	CLIP-seq
MIRT2193653	hsa-miR-4646-3p	CLIP-seq
MIRT2193654	hsa-miR-4712-5p	CLIP-seq
MIRT2193655	hsa-miR-4718	CLIP-seq
MIRT1956031	hsa-miR-4719	CLIP-seq
MIRT2193656	hsa-miR-4728-5p	CLIP-seq
MIRT863485	hsa-miR-4731-3p	CLIP-seq
MIRT2193657	hsa-miR-4742-5p	CLIP-seq
MIRT863487	hsa-miR-4753-3p	CLIP-seq
MIRT2193658	hsa-miR-4757-5p	CLIP-seq
MIRT863497	hsa-miR-4801	CLIP-seq
MIRT863498	hsa-miR-495	CLIP-seq
MIRT863499	hsa-miR-497	CLIP-seq
MIRT863500	hsa-miR-503	CLIP-seq
MIRT1956035	hsa-miR-543	CLIP-seq
MIRT2193659	hsa-miR-552	CLIP-seq
MIRT863518	hsa-miR-583	CLIP-seq
MIRT863525	hsa-miR-642b	CLIP-seq
MIRT2193660	hsa-miR-770-5p	CLIP-seq
MIRT863417	hsa-miR-15a	CLIP-seq
MIRT863418	hsa-miR-15b	CLIP-seq
MIRT863419	hsa-miR-16	CLIP-seq
MIRT863420	hsa-miR-194	CLIP-seq
MIRT863421	hsa-miR-195	CLIP-seq
MIRT1956023	hsa-miR-3692	CLIP-seq
MIRT2385554	hsa-miR-3977	CLIP-seq
MIRT863453	hsa-miR-424	CLIP-seq
MIRT863469	hsa-miR-4524	CLIP-seq
MIRT863499	hsa-miR-497	CLIP-seq
MIRT863500	hsa-miR-503	CLIP-seq
MIRT863505	hsa-miR-548ag	CLIP-seq
MIRT863506	hsa-miR-548ai	CLIP-seq
MIRT863416	hsa-miR-144	CLIP-seq
MIRT863417	hsa-miR-15a	CLIP-seq
MIRT863418	hsa-miR-15b	CLIP-seq
MIRT863419	hsa-miR-16	CLIP-seq
MIRT863421	hsa-miR-195	CLIP-seq
MIRT2496855	hsa-miR-1976	CLIP-seq
MIRT1956015	hsa-miR-216b	CLIP-seq
MIRT2496856	hsa-miR-23a	CLIP-seq
MIRT2496857	hsa-miR-23b	CLIP-seq
MIRT2496858	hsa-miR-23c	CLIP-seq
MIRT2496859	hsa-miR-299-5p	CLIP-seq
MIRT863429	hsa-miR-3119	CLIP-seq
MIRT2193647	hsa-miR-3126-3p	CLIP-seq
MIRT2496860	hsa-miR-3163	CLIP-seq
MIRT863433	hsa-miR-3188	CLIP-seq
MIRT863434	hsa-miR-3194-3p	CLIP-seq
MIRT863437	hsa-miR-329	CLIP-seq
MIRT2496861	hsa-miR-340	CLIP-seq
MIRT863442	hsa-miR-362-3p	CLIP-seq
MIRT1956020	hsa-miR-3667-5p	CLIP-seq
MIRT1956021	hsa-miR-3671	CLIP-seq
MIRT1956022	hsa-miR-3675-3p	CLIP-seq
MIRT1956023	hsa-miR-3692	CLIP-seq
MIRT2496862	hsa-miR-369-3p	CLIP-seq
MIRT2496863	hsa-miR-374c	CLIP-seq
MIRT1956025	hsa-miR-3907	CLIP-seq
MIRT863451	hsa-miR-3922-5p	CLIP-seq
MIRT2385554	hsa-miR-3977	CLIP-seq
MIRT2496864	hsa-miR-421	CLIP-seq
MIRT863453	hsa-miR-424	CLIP-seq
MIRT863460	hsa-miR-4310	CLIP-seq
MIRT2496865	hsa-miR-4311	CLIP-seq
MIRT863465	hsa-miR-4457	CLIP-seq
MIRT2496866	hsa-miR-4645-3p	CLIP-seq
MIRT2193655	hsa-miR-4718	CLIP-seq
MIRT1956031	hsa-miR-4719	CLIP-seq
MIRT863485	hsa-miR-4731-3p	CLIP-seq
MIRT1956034	hsa-miR-4762-5p	CLIP-seq
MIRT863497	hsa-miR-4801	CLIP-seq
MIRT863498	hsa-miR-495	CLIP-seq
MIRT863499	hsa-miR-497	CLIP-seq
MIRT2496867	hsa-miR-5095	CLIP-seq
MIRT2496868	hsa-miR-548an	CLIP-seq
MIRT863518	hsa-miR-583	CLIP-seq
MIRT863519	hsa-miR-586	CLIP-seq
MIRT1956036	hsa-miR-607	CLIP-seq
MIRT863524	hsa-miR-634	CLIP-seq
MIRT863525	hsa-miR-642b	CLIP-seq
MIRT2496869	hsa-miR-655	CLIP-seq
MIRT2496870	hsa-miR-760	CLIP-seq
MIRT2677406	hsa-miR-1224-3p	CLIP-seq
MIRT1956015	hsa-miR-216b	CLIP-seq
MIRT2496859	hsa-miR-299-5p	CLIP-seq
MIRT2677407	hsa-miR-3065-5p	CLIP-seq
MIRT863437	hsa-miR-329	CLIP-seq
MIRT863442	hsa-miR-362-3p	CLIP-seq
MIRT1956020	hsa-miR-3667-5p	CLIP-seq
MIRT1956021	hsa-miR-3671	CLIP-seq
MIRT1956022	hsa-miR-3675-3p	CLIP-seq
MIRT2677408	hsa-miR-3679-3p	CLIP-seq
MIRT2385554	hsa-miR-3977	CLIP-seq
MIRT2496865	hsa-miR-4311	CLIP-seq
MIRT1956034	hsa-miR-4762-5p	CLIP-seq
MIRT2496867	hsa-miR-5095	CLIP-seq
MIRT863519	hsa-miR-586	CLIP-seq
MIRT1956036	hsa-miR-607	CLIP-seq
MIRT863524	hsa-miR-634	CLIP-seq
MIRT863485	hsa-miR-4731-3p	CLIP-seq
MIRT863497	hsa-miR-4801	CLIP-seq

Show/Hide all (58)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001953	Process	Negative regulation of cell-matrix adhesion	IMP	18664494
GO:0004385	Function	GMP kinase activity	IEA
GO:0004385	Function	GMP kinase activity	TAS	9660868
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	18423203
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0005102	Function	Signaling receptor binding	IBA
GO:0005515	Function	Protein binding	IPI	9660868, 11377421, 15694377, 16688213, 18423203, 21763699, 22153505, 24366813, 25416956, 25852190, 29892012, 32296183, 32707033, 33961781, 35914814, 36012204, 39009827
GO:0005516	Function	Calmodulin binding	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005604	Component	Basement membrane	IDA	18664494
GO:0005604	Component	Basement membrane	IDA	18664494
GO:0005604	Component	Basement membrane	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005652	Component	Nuclear lamina	IDA	18664494
GO:0005730	Component	Nucleolus	IDA	18664494
GO:0005737	Component	Cytoplasm	IDA	18664494
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	9660868
GO:0005911	Component	Cell-cell junction	IBA
GO:0005911	Component	Cell-cell junction	IDA	18664494
GO:0005911	Component	Cell-cell junction	IEA
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0007155	Process	Cell adhesion	TAS	9660868
GO:0008104	Process	Intracellular protein localization	IBA
GO:0010839	Process	Negative regulation of keratinocyte proliferation	IDA	18664494
GO:0010839	Process	Negative regulation of keratinocyte proliferation	IMP	18664494
GO:0015629	Component	Actin cytoskeleton	TAS	9660868
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016323	Component	Basolateral plasma membrane	IBA
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016363	Component	Nuclear matrix	IDA	18664494
GO:0016740	Function	Transferase activity	IEA
GO:0030054	Component	Cell junction	IEA
GO:0031982	Component	Vesicle	IEA
GO:0042043	Function	Neurexin family protein binding	IEA
GO:0042734	Component	Presynaptic membrane	ISS
GO:0045202	Component	Synapse	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046037	Process	GMP metabolic process	IEA
GO:0046710	Process	GDP metabolic process	IEA
GO:0046928	Process	Regulation of neurotransmitter secretion	IBA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0060170	Component	Ciliary membrane	ISS
GO:0061045	Process	Negative regulation of wound healing	IMP	18664494
GO:0070509	Process	Calcium ion import	IEA
GO:0071944	Component	Cell periphery	IEA
GO:0090280	Process	Positive regulation of calcium ion import	IEA
GO:0090288	Process	Negative regulation of cellular response to growth factor stimulus	IMP	18664494
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0106310	Function	Protein serine kinase activity	IEA
GO:2000300	Process	Regulation of synaptic vesicle exocytosis	IEA

MIM	HGNC	e!Ensembl
300172	1497	ENSG00000147044

O14936

Protein name

Peripheral plasma membrane protein CASK (hCASK) (EC 2.7.11.1) (Calcium/calmodulin-dependent serine protein kinase) (Protein lin-2 homolog)

Protein function

Multidomain scaffolding Mg(2+)-independent protein kinase that catalyzes the phosphotransfer from ATP to proteins such as NRXN1, and plays a role in synaptic transmembrane protein anchoring and ion channel trafficking (PubMed:18423203). Contribu

PDB

1KGD , 1KWA , 1ZL8 , 3C0G , 3C0H , 3C0I , 3MFR , 3MFS , 3MFT , 3MFU , 3TAC , 6KMH , 7OAI , 7OAJ , 7OAK , 7OAL

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00069	Pkinase	12 → 276	Protein kinase domain	Domain
PF02828	L27	347 → 400	L27 domain	Domain
PF02828	L27	406 → 457	L27 domain	Domain
PF00595	PDZ	490 → 568	PDZ domain	Domain
PF00018	SH3_1	618 → 674	SH3 domain	Domain
PF00625	Guanylate_kin	738 → 912	Guanylate kinase	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. Expression is significantly greater in brain relative to kidney, lung, and liver and in fetal brain and kidney relative to lung and liver. {ECO:0000269|PubMed:11003712}.

Sequence

MADDDVLFEDVYELCEVIGKGPFSVVRRCINRETGQQFAVKIVDVAKFTSSPGLSTEDLK
REASICHMLKHPHIVELLETYSSDGMLYMVFEFMDGADLCFEIVKRADAGFVYSEAVASH
YMRQILEALRYCHDNNIIHRDVKPHCVLLASKENSAPVKLGGFGVAIQLGESGLVAGGRV
GTPHFMAPEVVKREPYGKPVDVWGCGVILFILLSGCLPFYGTKERLFEGIIKGKYKMNPR
QWSHISESAKDLVRRMLMLDPAERITVYEALNHPWLKERDRYAYKIHLPETVEQLRKFNA
RRKLKGAVLAAVSSHKFNSFYGDPPEELPDFSEDPTSSGLLAAERAVSQVLDSLEEIHAL
TDCSEKDLDFLHSVFQDQHLHTLLDLYDKINTKSSPQIRNPPSDAVQRAKEVLEEISCYP
ENNDAKELKRILTQPHFMALLQTHDVVAHEVYSDEALRVTPPPTSPYLNGDSPESANGDM
DMENVTRVRLVQFQKNTDEPMGITLKMNELNHCIVARIMHGGMIHRQGTLHVGDEIREIN
GISVANQTVEQLQKMLREMRGSITFKIVPSYRTQSSSCERDSPSTSRQSPANGHSSTNNS
VSDLPSTTQPKGRQIYVRAQFEYDPAKDDLIPCKEAGIRFRVGDIIQIISKDDHNWWQGK
LENSKNGTAGLIPSPELQEWRVACIAMEKTKQEQQASCTWFGKKKKQYKDKYLAKHNAVF
DQLDLVTYEEVVKLPAFKRKTLVLLGAHGVGRRHIKNTLITKHPDRFAYPIPHTTRPPKK
DEENGKNYYFVSHDQMMQDISNNEYLEYGSHEDAMYGTKLETIRKIHEQGLIAILDVEPQ
ALKVLRTAEFAPFVVFIAAPTITPGLNEDESLQRLQKESDILQRTYAHYFDLTIINNEID
ETIRHLEEAVELVCTAPQWVPVSWVY

Sequence length

926

Interactions

View interactions

	Reactome
			Dopamine Neurotransmitter Release Cycle Neurexins and neuroligins

741

Show/Hide Causal Diseases (23)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the nervous system	Likely pathogenic; Pathogenic	rs1602292076	RCV001814250
Anemia, nonspherocytic hemolytic, due to G6PD deficiency	Likely pathogenic; Pathogenic	rs2147095645, rs886128077	RCV003883186 RCV000763625
CASK-related disorder	Likely pathogenic; Pathogenic	rs1114167352, rs2519688140, rs2519772582, rs1064796879, rs1555977269	RCV000844926 RCV004529829 RCV004531607 RCV000509559 RCV000677399
CASK-related intellectual disability and microcephaly with pontine and cerebellar hypoplasia	Pathogenic	rs2065377688	RCV001270856
Clear cell carcinoma of kidney	Likely pathogenic	rs2147179060	RCV005922641
Congenital cerebellar hypoplasia	Pathogenic; Likely pathogenic	rs794727270, rs1555975523, rs1569295677, rs1569291261, rs1569380062	RCV001257954 RCV000626850 RCV001257980 RCV001257955 RCV001257981
Deficiency of butyrylcholinesterase	Pathogenic	rs749742837	RCV000509534
Developmental disorder	Likely pathogenic; Pathogenic	rs2147095645, rs2519234559, rs2519199772	RCV001843739 RCV003127303 RCV003127304
Dystonic disorder	Likely pathogenic; Pathogenic	rs398122845	RCV000626851
FG syndrome 4	Likely pathogenic; Pathogenic	rs2147201250, rs2147095645, rs587783370, rs398122845, rs137852816, rs137852818, rs137852819, rs2519752309, rs2519234687, rs398122844, rs779508996, rs1064796344, rs886128077, rs1569429756, rs1569283243 View all (3 more)	RCV001761582 RCV003883186 RCV002250574 RCV003227734 RCV000012288 RCV000012290 RCV000012291 RCV004017182 RCV004594906 RCV000022829 RCV002281574 RCV006257295 RCV000763625 RCV002470957 RCV000758008 RCV000850537 RCV001253354 RCV001195937
Global developmental delay	Likely pathogenic	rs1555975523	RCV000626850
Hypertonia	Likely pathogenic	rs1555975523	RCV000626850
Inability to walk	Likely pathogenic; Pathogenic	rs398122845	RCV000626851
Intellectual disability	Likely pathogenic; Pathogenic	rs2147495667, rs137852815, rs2066559023, rs2067197219	RCV001526625 RCV004798721 RCV001260655 RCV001260653
Intellectual disability, CASK-related, X-linked	Pathogenic; Likely pathogenic	rs2147336769, rs2147111812, rs2147095994, rs2147155759, rs2148116120, rs2147112134, rs587783370, rs2147059734, rs794727270, rs2519215974, rs2519234724, rs1114167352, rs2519853547, rs2519819468, rs2519234356 View all (8 more)	RCV001391016 RCV001950476 RCV001970820 RCV001994755 RCV001914460 RCV001963252 RCV001857501 RCV003064712 RCV005089881 RCV003043219 RCV003059559 RCV005090249 RCV003512328 RCV003512541 RCV003625262 RCV003625672 RCV002525756 RCV001226408 RCV000527725 RCV000697924 RCV000691765 RCV003624437 RCV001225069
Neurodevelopmental disorder	Pathogenic	rs2147095950, rs2520195542	RCV002277662 RCV003389220
Nonpapillary renal cell carcinoma	Likely pathogenic	rs2147179060, rs1057517923	RCV005922640 RCV005900672
Nystagmus	Likely pathogenic; Pathogenic	rs398122845, rs1555975523	RCV000626851 RCV000626850
Primary microcephaly	Likely pathogenic	rs1555975523	RCV000626850
Smith-Magenis Syndrome-like	Likely pathogenic; Pathogenic	rs1114167352	RCV000491353
Syndromic X-linked intellectual disability Najm type	Likely pathogenic; Pathogenic	rs12842195, rs2147179060, rs2147368049, rs2147095645, rs2147736023, rs587783357, rs587783360, rs587783361, rs587783362, rs587783364, rs587783366, rs587783368, rs587783370, rs587783371, rs2147495562 View all (62 more)	RCV001787238 RCV001808874 RCV001809122 RCV003883186 RCV001843835 RCV000145394 RCV000145397 RCV000145398 RCV000145399 RCV000145402 RCV000145406 RCV000145411 RCV000145415 RCV000145416 RCV002250990 RCV002259417 RCV002283963 RCV000157068 RCV003624490 RCV000175755 RCV000194553 RCV000193508 RCV000194542 RCV000198342 RCV003147863 RCV003152940 RCV003153141 RCV005870105 RCV000990798 RCV003228781 RCV000012286 RCV000012287 RCV000760252 RCV003236242 RCV003236764 RCV003333301 RCV003337851 RCV003387600 RCV005254846 RCV003625105 RCV003986031 RCV004017182 RCV000193589 RCV000022831 RCV000022833 RCV000502316 RCV006257295 RCV000496613 RCV000621770 RCV000502216 RCV000503963 RCV000500609 RCV000502372 RCV000618847 RCV000618602 RCV000620583 RCV001809679 RCV000990797 RCV000627089 RCV001788328 RCV000723311 RCV000758008 RCV000779658 RCV000779656 RCV000779657 RCV000791046 RCV000850537 RCV000990796 RCV000990799 RCV000990802 RCV001004663 RCV001004925 RCV005871114 RCV001028096 RCV001253169 RCV001255833 RCV001255831 RCV001255728
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs2147833223, rs1555977195	RCV005922523 RCV005937372 RCV005901185
X-linked syndromic intellectual disability	Pathogenic	rs2147138207	RCV002273149

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign; Benign	rs139933620, rs5918201	RCV005915018 RCV005905647
Cholangiocarcinoma	Benign	rs199560653, rs5918201	RCV005871494 RCV005905648
Familial cancer of breast	Benign	rs199560653	RCV005871492
FG syndrome	Benign	rs199560653	RCV003994715
Malignant lymphoma, large B-cell, diffuse	Benign	rs199560653	RCV005871493
Malignant tumor of esophagus	Benign; Likely benign	rs372470833	RCV005899926
Seizure	Uncertain significance	rs2147138697, rs1021774904	RCV002275920 RCV002275111
Thymoma	Likely benign	rs139933620	RCV005915019
Uterine corpus endometrial carcinoma	Likely benign; Benign	rs139933620, rs199560653	RCV005915020 RCV005871495

Show/Hide Text Mining Associations (59)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Agenesis of Cerebellar Vermis	Associate	22452838
Alcohol Related Disorders	Associate	32929080
Atrophy	Associate	32696595
Autism Spectrum Disorder	Associate	24505460, 32929080
Autistic Disorder	Associate	20574149, 35281599
Autosomal Recessive Primary Microcephaly	Associate	35281599
Body Dysmorphic Disorders	Associate	22452838, 32696595
Bone Diseases Metabolic	Associate	32696595
Brain Diseases	Associate	20574149, 25886057, 32696595, 35550617
Brain Stem Neoplasms	Associate	20595373
Calcium Metabolism Disorders	Associate	36168867
Cardiomyopathy Dilated	Associate	27173948
Central Nervous System Vascular Malformations	Associate	19012874
Cerebellar Diseases	Associate	36175354
Cerebellar Hypoplasia	Associate	20029458, 20595373, 22709267, 25886057, 29426960, 30549415, 35668446
Colorectal Neoplasms	Associate	24927672, 33113509
Congenital Abnormalities	Associate	22709267
Deafness	Associate	22452838
Death	Associate	24524299
Developmental Disabilities	Associate	27173948, 32929080, 35441233, 36168867
Dystonia	Associate	22452838
Epilepsy	Associate	22452838, 32696595, 37095367
Glaucoma	Associate	22452838
Growth Disorders	Associate	22452838, 35550617
Infantile Epileptic Dyskinetic Encephalopathy	Associate	22709267, 25886057
Intellectual Disability	Associate	20029458, 22452838, 22709267, 25886057, 28481730, 29258560, 29426960, 30549415, 32696595, 32929080, 35281599, 35550617, 35668446, 36168867
Language Disorders	Associate	20574149
Learning Disabilities	Associate	20574149
Lymphatic Metastasis	Stimulate	24927672
Lymphoproliferative Syndrome X Linked 2	Associate	20029458
Megalocornea	Associate	22452838
Mental Disorders	Associate	35550617
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia	Associate	25886057, 29258560, 29426960, 30549415, 35550617, 35668446, 36137748, 36168867, 36175354
Mental Retardation Autosomal Recessive 7	Associate	35668446
Mental Retardation X Linked	Associate	19377476, 20029458, 20595373, 23406872, 24505460, 35550617
Microcephaly	Associate	20029458, 20595373, 22452838, 22709267, 29258560, 29426960, 30549415, 32696595, 35281599, 35550617, 35668446, 36137748
Microcephaly pontocerebellar hypoplasia dyskinesia	Associate	22452838
Migraine Disorders	Associate	34126933
Neoplasm Invasiveness	Associate	24927672
Neoplasm Metastasis	Stimulate	24927672
Neoplasms	Associate	24927672, 33113509
Nystagmus 1 congenital X linked	Associate	20029458
Nystagmus Congenital	Associate	20029458, 22709267
Nystagmus Pathologic	Associate	20029458, 23406872, 25886057
Olivopontocerebellar Atrophies	Associate	32696595
Opitz Kaveggia syndrome	Associate	19200522, 20029458, 22709267, 35281599, 35550617, 35668446
Optic Atrophy	Associate	20029458, 22452838, 30549415
Optic Nerve Hypoplasia	Associate	29426960, 30549415, 32696595
Parkinson Disease	Associate	29852216
Pena Shokeir syndrome type 1	Associate	30549415
Pontocerebellar Hypoplasia	Associate	22452838, 22709267, 24524299, 32696595, 36137748
Primary Dysautonomias	Associate	32696595
Psychomotor Disorders	Associate	22452838
Rectal Neoplasms	Associate	33113509
Retinal Dystrophies	Associate	30549415
Retinitis	Associate	30549415
Scoliosis	Associate	22452838
Synovitis	Associate	20595373
X Linked Infantile Nystagmus	Associate	23406872

CASK (calcium/calmodulin dependent serine protein kinase)