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STAC2 (SH3 and cysteine rich domain 2)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
342667
Gene nameGene Name - the full gene name approved by the HGNC.
SH3 and cysteine rich domain 2
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
STAC2
SynonymsGene synonyms aliases
24b2, 24b2/STAC2
ChromosomeChromosome number
17
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q12
SummarySummary of gene provided in NCBI Entrez Gene.
This gene encodes a protein containing an SH3 domain and a zinc finger domain. The encoded protein has been shown to regulate calcium channel inactivation in a human cell line. Reduced expression of this gene has been observed in human heart failure. [pro
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs863223351 C>T Likely-pathogenic Missense variant, intron variant, non coding transcript variant, coding sequence variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT706374 hsa-miR-106a-5p HITS-CLIP 22927820
MIRT706373 hsa-miR-106b-5p HITS-CLIP 22927820
MIRT706372 hsa-miR-17-5p HITS-CLIP 22927820
MIRT706371 hsa-miR-20a-5p HITS-CLIP 22927820
MIRT706370 hsa-miR-20b-5p HITS-CLIP 22927820
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003009 Process Skeletal muscle contraction IBA 21873635
GO:0005515 Function Protein binding IPI 16713569, 25416956, 32296183, 32814053
GO:0005829 Component Cytosol IEA
GO:0031234 Component Extrinsic component of cytoplasmic side of plasma membrane IBA 21873635
GO:0031234 Component Extrinsic component of cytoplasmic side of plasma membrane ISS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q6ZMT1
Protein name SH3 and cysteine-rich domain-containing protein 2 (24b2/STAC2) (Src homology 3 and cysteine-rich domain-containing protein 2)
Protein function Plays a redundant role in promoting the expression of calcium channel CACNA1S at the cell membrane, and thereby contributes to increased channel activity. Slows down the inactivation rate of the calcium channel CACNA1C. {ECO:0000250|UniProtKB:Q8
PDB 6B26 , 6B27 , 6B28
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00130 C1_1
111 164
Phorbol esters/diacylglycerol binding domain (C1 domain)
Domain
PF16664 STAC2_u1
167 295
Disordered
PF14604 SH3_9
299 347
Variant SH3 domain
Domain
Sequence
MTEMSEKENEPDDAATHSPPGTVSALQETKLQRFKRSLSLKTILRSKSLENFFLRSGSEL
KCPTEVLLTPPTPLPPPSPPPTASDRGLATPSPSPCPVPRPLAALKPVRLHSFQEHVFKR
ASPCELCHQLIVGNSKQGLRCKMCKVSVHLWCSEEISHQQCPGK
TSTSFRRNFSSPLLVH
EPPPVCATSKESPPTGDSGKVDPVYETLRYGTSLALMNRSSFSSTSESPTRSLSERDELT
EDGEGSIRSSEEGPGDSASPVFTAPAESEGPGPEEKSPGQQLPKATLRKDVGPMY
SYVAL
YKFLPQENNDLALQPGDRIMLVDDSNEDWWKGKIGDRVGFFPANFVQ
RVRPGENVWRCCQ
PFSGNKEQGYMSLKENQICVGVGRSKDADGFIRVSSGKKRGLVPVDALTEI
Sequence length 411
Interactions View interactions
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Schizophrenia Schizophrenia, Childhood rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 26508570

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