Gene Gene information from NCBI Gene database.
Entrez ID 342667
Gene name SH3 and cysteine rich domain 2
Gene symbol STAC2
Synonyms (NCBI Gene)
24b224b2/STAC2
Chromosome 17
Chromosome location 17q12
Summary 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
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs863223351 C>T Likely-pathogenic Missense variant, intron variant, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
548
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0003009 Process Skeletal muscle contraction IBA
GO:0005515 Function Protein binding IPI 16713569, 25416956, 32296183, 32814053
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IEA
GO:0005886 Component Plasma membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Childhood-onset schizophrenia Likely pathogenic rs863223351 RCV000202325
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
High myopia Uncertain significance rs201455475 RCV000785724
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 27506935, 31182966
Heart Failure Associate 25725476