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. [provided by RefSeq, May 2017] See more...

Aliases for STAC2 Gene

Aliases for STAC2 Gene

  • SH3 And Cysteine Rich Domain 2 2 3 5
  • SH3 And Cysteine-Rich Domain-Containing Protein 2 3 4
  • 24b2/STAC2 3 4
  • SRC Homology 3 And Cysteine-Rich Domain-Containing Protein 2 3
  • Src Homology 3 And Cysteine-Rich Domain-Containing Protein 2 4
  • 24b2 3

External Ids for STAC2 Gene

Previous GeneCards Identifiers for STAC2 Gene

  • GC17M037741
  • GC17M034620
  • GC17M037368
  • GC17M033161

Summaries for STAC2 Gene

Entrez Gene Summary for STAC2 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. [provided by RefSeq, May 2017]

GeneCards Summary for STAC2 Gene

STAC2 (SH3 And Cysteine Rich Domain 2) is a Protein Coding gene. Diseases associated with STAC2 include Myopathy, Congenital, Bailey-Bloch. An important paralog of this gene is STAC.

UniProtKB/Swiss-Prot Summary for STAC2 Gene

  • 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.

Additional gene information for STAC2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for STAC2 Gene

Genomics for STAC2 Gene

GeneHancer (GH) Regulatory Elements for STAC2 Gene

Promoters and enhancers for STAC2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J039227 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.1 144 1.6 HNRNPK NRF1 EZH2 KLF9 SP2 ZBTB17 ZFHX2 SAFB EBF1 ZBTB7A STAC2 RF00017-2371
GH17J039224 Promoter 0.6 Ensembl 500.7 +1.2 1244 0.2 EZH2 WT1 RNF2 KLF1 SUZ12 ZBTB12 STAC2 RF00017-2371
GH17J039228 Enhancer 0.5 Ensembl 500.7 -1.7 -1656 0.8 ZFHX2 GLIS1 ZNF398 EGR2 PKNOX1 ZNF121 STAC2 lnc-RPL19-6
GH17J039208 Promoter/Enhancer 1.6 EPDnew FANTOM5 ENCODE dbSUPER 21.3 +16.3 16314 2.5 ZSCAN5C SIN3A FOS ZIC2 POLR2A ZBTB10 ZNF423 GABPA ZBTB26 MEF2C CACNB1 lnc-STAC2-3 STAC2 THRA piR-48368-001
GH17J039191 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 9.7 +28.9 28947 11.7 FOXK2 ZBTB40 CTCF SIN3A NRF1 TCF12 MYC POLR2G USF1 SP1 RPL19 CACNB1 lnc-STAC2-2 CDK12 SNORD124 MED1 SNORA21 RPL23 MSL1 LOC105371762
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around STAC2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for STAC2

Top Transcription factor binding sites by QIAGEN in the STAC2 gene promoter:
  • AhR
  • AP-2alpha
  • AP-2alphaA
  • AREB6
  • Arnt
  • LCR-F1
  • Max1
  • NF-1
  • Pax-5
  • Pbx1a

Genomic Locations for STAC2 Gene

Genomic Locations for STAC2 Gene
chr17:39,210,536-39,225,945
(GRCh38/hg38)
Size:
15,410 bases
Orientation:
Minus strand
chr17:37,366,789-37,382,125
(GRCh37/hg19)
Size:
15,337 bases
Orientation:
Minus strand

Genomic View for STAC2 Gene

Genes around STAC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
STAC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for STAC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for STAC2 Gene

Proteins for STAC2 Gene

  • Protein details for STAC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZMT1-STAC2_HUMAN
    Recommended name:
    SH3 and cysteine-rich domain-containing protein 2
    Protein Accession:
    Q6ZMT1
    Secondary Accessions:
    • Q32MA3

    Protein attributes for STAC2 Gene

    Size:
    411 amino acids
    Molecular mass:
    45009 Da
    Quaternary structure:
    • Interacts (via SH3 domains) with CACNA1S (PubMed:29078335). Interacts (via SH3 domains) with CACNA1C (PubMed:29078335). Has much lower affinity for CACNA1C than for CACNA1S (PubMed:29078335).

    Three dimensional structures from OCA and Proteopedia for STAC2 Gene

    Alternative splice isoforms for STAC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for STAC2 Gene

Post-translational modifications for STAC2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for STAC2 Gene

No data available for DME Specific Peptides for STAC2 Gene

Domains & Families for STAC2 Gene

Gene Families for STAC2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for STAC2 Gene

Blocks:
  • SH3 domain signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for STAC2 Gene

GenScript: Design optimal peptide antigens:
  • SH3 and cysteine-rich domain-containing protein 2 (D0IN09_HUMAN)
  • Src homology 3 and cysteine-rich domain-containing protein 2 (STAC2_HUMAN)
genes like me logo Genes that share domains with STAC2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for STAC2 Gene

Function for STAC2 Gene

Molecular function for STAC2 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for STAC2 Gene

Gene Ontology (GO) - Molecular Function for STAC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 25416956
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with STAC2: view
genes like me logo Genes that share phenotypes with STAC2: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for STAC2 Gene

Localization for STAC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for STAC2 Gene

Cytoplasm, cytosol. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell membrane, sarcolemma; Peripheral membrane protein; Cytoplasmic side. Note=Colocalizes with CACNA1C at the plasma membrane of transfected cells. {ECO:0000250 UniProtKB:Q8R1B0}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for STAC2 gene
Compartment Confidence
plasma membrane 4
cytosol 4
nucleus 3
extracellular 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for STAC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0031234 extrinsic component of cytoplasmic side of plasma membrane IEA,ISS --
genes like me logo Genes that share ontologies with STAC2: view

Pathways & Interactions for STAC2 Gene

PathCards logo

SuperPathways for STAC2 Gene

No Data Available

Interacting Proteins for STAC2 Gene

;

Gene Ontology (GO) - Biological Process for STAC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003009 skeletal muscle contraction IBA 21873635
GO:0035556 intracellular signal transduction IEA --
GO:1901387 positive regulation of voltage-gated calcium channel activity IBA,ISS --
GO:1903078 positive regulation of protein localization to plasma membrane ISS,IBA --
genes like me logo Genes that share ontologies with STAC2: view

No data available for Pathways by source and SIGNOR curated interactions for STAC2 Gene

Drugs & Compounds for STAC2 Gene

(3) Additional Compounds for STAC2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Diglycerides Group B
  • 1-Myristoyl-2-eicosadienoyl-sn-glycerol
  • DAG(14:0/20:2)
  • DAG(14:0/20:2N6)
  • DAG(14:0/20:2W6)
  • DAG(34:2)
Diglycerides Group C
  • 1-Stearoyl-2-palmitoyl-sn-glycerol
  • DAG(18:0/16:0)
  • DAG(34:0)
  • DG(18:0/16:0)
  • DG(34:0)
Diglycerides Group D
  • 1,2-Di-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-sn-glycerol
  • 1,2-Didocosahexaenoyl-sn-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6N3/22:6N3)
  • DAG(22:6OMEGA3/22:6OMEGA3)
genes like me logo Genes that share compounds with STAC2: view

Transcripts for STAC2 Gene

mRNA/cDNA for STAC2 Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for STAC2 Gene

No ASD Table

Relevant External Links for STAC2 Gene

GeneLoc Exon Structure for
STAC2

Expression for STAC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for STAC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for STAC2 Gene

This gene is overexpressed in Artery - Tibial (x7.9), Breast - Mammary Tissue (x5.8), Skin - Sun Exposed (Lower leg) (x4.6), and Brain - Cortex (x4.1).

Protein differential expression in normal tissues from HIPED for STAC2 Gene

This gene is overexpressed in Retina (54.0) and Frontal cortex (15.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for STAC2 Gene



Protein tissue co-expression partners for STAC2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for STAC2

SOURCE GeneReport for Unigene cluster for STAC2 Gene:

Hs.145068

Evidence on tissue expression from TISSUES for STAC2 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with STAC2: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for STAC2 Gene

Orthologs for STAC2 Gene

This gene was present in the common ancestor of animals.

Orthologs for STAC2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia STAC2 31 30
  • 93.15 (n)
OneToOne
cow
(Bos Taurus)
Mammalia STAC2 31 30
  • 90.93 (n)
OneToOne
dog
(Canis familiaris)
Mammalia STAC2 31 30
  • 90.93 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Stac2 17 31 30
  • 89.46 (n)
rat
(Rattus norvegicus)
Mammalia Stac2 30
  • 88.89 (n)
oppossum
(Monodelphis domestica)
Mammalia STAC2 31
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia STAC2 31
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia STAC2 31
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia stac2 30
  • 63.26 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG43729 31
  • 6 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 19 (a)
OneToMany
Species where no ortholog for STAC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for STAC2 Gene

ENSEMBL:
Gene Tree for STAC2 (if available)
TreeFam:
Gene Tree for STAC2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for STAC2: view image

Paralogs for STAC2 Gene

Paralogs for STAC2 Gene

(6) SIMAP similar genes for STAC2 Gene using alignment to 3 proteins:

  • STAC2_HUMAN
  • D0IN09_HUMAN
  • J3QKZ0_HUMAN
genes like me logo Genes that share paralogs with STAC2: view

Variants for STAC2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for STAC2 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs201455475 Uncertain Significance: Severe Myopia 39,218,056(-) G/A MISSENSE_VARIANT,INTRON_VARIANT
rs761169200 Uncertain Significance: not provided 39,215,212(-) TCCACCTTC/T FRAMESHIFT_VARIANT
rs863223351 Likely Pathogenic: Childhood-Onset Schizophrenia 39,218,007(-) C/T MISSENSE_VARIANT,INTRON_VARIANT
rs952472797 Uncertain Significance: not provided 39,218,025(-) G/C MISSENSE_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for STAC2 Gene

Structural Variations from Database of Genomic Variants (DGV) for STAC2 Gene

Variant ID Type Subtype PubMed ID
nsv1146669 OTHER inversion 26484159
nsv833441 CNV loss 17160897

Variation tolerance for STAC2 Gene

Residual Variation Intolerance Score: 24.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.43; 28.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for STAC2 Gene

Human Gene Mutation Database (HGMD)
STAC2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
STAC2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for STAC2 Gene

Disorders for STAC2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for STAC2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
myopathy, congenital, bailey-bloch
  • mypbb
- elite association - COSMIC cancer census association via MalaCards
Search STAC2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for STAC2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with STAC2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for STAC2 Gene

Publications for STAC2 Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  3. Structural insights into binding of STAC proteins to voltage-gated calcium channels. (PMID: 29078335) Wong King Yuen SM … Van Petegem F (Proceedings of the National Academy of Sciences of the United States of America 2017) 4 54
  4. Stac adaptor proteins regulate trafficking and function of muscle and neuronal L-type Ca2+ channels. (PMID: 25548159) Polster A … Beam KG (Proceedings of the National Academy of Sciences of the United States of America 2015) 3 54
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 54

Products for STAC2 Gene

Sources for STAC2 Gene