Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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342667 |
Gene nameGene Name - the full gene name approved by the HGNC.
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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.
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STAC2 |
SynonymsGene synonyms aliases
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24b2, 24b2/STAC2 |
ChromosomeChromosome number
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17 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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17q12 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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.
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SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs863223351 |
C>T |
Likely-pathogenic |
Missense variant, intron variant, non coding transcript variant, coding sequence variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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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 |
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Disordered |
PF14604 |
SH3_9 |
299 → 347 |
Variant SH3 domain |
Domain |
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Sequence |
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Sequence length |
411 |
Interactions |
View interactions |
Associated diseases
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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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