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STAC2 SH3 and cysteine rich domain 2 [ Homo sapiens (human) ]

Gene ID: 342667, updated on 5-Mar-2024

Summary

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Official Symbol
STAC2provided by HGNC
Official Full Name
SH3 and cysteine rich domain 2provided by HGNC
Primary source
HGNC:HGNC:23990
See related
Ensembl:ENSG00000141750 AllianceGenome:HGNC:23990
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
24b2; 24b2/STAC2
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. [provided by RefSeq, May 2017]
Expression
Biased expression in brain (RPKM 11.7), kidney (RPKM 2.2) and 3 other tissues See more
Orthologs
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Genomic context

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Location:
17q12
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (39210541..39225945, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (40074418..40089823, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (37366794..37382198, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371768 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:37331661-37332262 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:37333039-37333540 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:37333541-37334040 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:37340225-37340725 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:37349106-37349606 Neighboring gene calcium voltage-gated channel auxiliary subunit beta 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8449 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8450 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8451 Neighboring gene uncharacterized LOC124903996 Neighboring gene MPRA-validated peak2833 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12091 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12092 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:37365492-37366158 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:37366159-37366825 Neighboring gene ribosomal protein L19 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:37379624-37379793 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:37381456-37381956 Neighboring gene transcription factor CP2-like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:37400607-37401181 Neighboring gene F-box and leucine rich repeat protein 20 Neighboring gene microRNA 548BC

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Stac adaptor proteins regulate trafficking and function of muscle and neuronal L-type Ca2+ channels. Polster A, et al. Proc Natl Acad Sci U S A, 2015 Jan 13. PMID 25548159, Free PMC Article
  2. stac1 and stac2 genes define discrete and distinct subsets of dorsal root ganglia neurons. Legha W, et al. Gene Expr Patterns, 2010 Oct-Dec. PMID 20736085
  3. Systematic screening reveals a role for BRCA1 in the response to transcription-associated DNA damage. Hill SJ, et al. Genes Dev, 2014 Sep 1. PMID 25184681, Free PMC Article
  4. Identification of host proteins required for HIV infection through a functional genomic screen. Brass AL, et al. Science, 2008 Feb 15. PMID 18187620
  5. Systematic identification of pathological lamin A interactors. Dittmer TA, et al. Mol Biol Cell, 2014 May. PMID 24623722, Free PMC Article

See all (16) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of SH3 and cysteine rich domain 2 (STAC2) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC129694

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in positive regulation of protein localization to plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of protein localization to plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of voltage-gated calcium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of voltage-gated calcium channel activity ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in skeletal muscle contraction IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in cytoplasmic side of plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cytosol IEA
Inferred from Electronic Annotation
more info
  
located_in sarcolemma IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
SH3 and cysteine-rich domain-containing protein 2
Names
SRC homology 3 and cysteine-rich domain-containing protein 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_054936.1 RefSeqGene

    Range
    4843..20247
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001351360.2 → NP_001338289.1  SH3 and cysteine-rich domain-containing protein 2 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.
    Source sequence(s)
    AC015910, AJ608762, AK131500, BC109231, DA311257
    Conserved Domains (3) summary
    cd11985
    Location:154 → 206
    SH3_Stac2_C; C-terminal Src homology 3 domain of SH3 and cysteine-rich domain-containing protein 2 (Stac2)
    pfam16664
    Location:25 → 153
    STAC2_u1; Unstructured on SH3 and cysteine-rich domain-containing protein 2
    cl17036
    Location:213 → 264
    SH3; Src Homology 3 domain superfamily

  2. NM_198993.5 → NP_945344.1  SH3 and cysteine-rich domain-containing protein 2 isoform 1

    See identical proteins and their annotated locations for NP_945344.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC015910, AJ608762, AK131500, DA311257
    Consensus CDS
    CCDS11335.1
    UniProtKB/Swiss-Prot
    Q32MA3, Q6ZMT1
    UniProtKB/TrEMBL
    D0IN09
    Related
    ENSP00000327509.5, ENST00000333461.6
    Conserved Domains (4) summary
    cd11985
    Location:296 → 348
    SH3_Stac2_C; C-terminal Src homology 3 domain of SH3 and cysteine-rich domain-containing protein 2 (Stac2)
    cd00029
    Location:111 → 161
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
    pfam16664
    Location:167 → 295
    STAC2_u1; Unstructured on SH3 and cysteine-rich domain-containing protein 2
    cl17036
    Location:355 → 406
    SH3; Src Homology 3 domain superfamily

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    39210541..39225945 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017024581.2 → XP_016880070.1  SH3 and cysteine-rich domain-containing protein 2 isoform X2

  2. XM_017024580.2 → XP_016880069.1  SH3 and cysteine-rich domain-containing protein 2 isoform X1

  3. XM_047435911.1 → XP_047291867.1  SH3 and cysteine-rich domain-containing protein 2 isoform X3

  4. XM_017024583.2 → XP_016880072.1  SH3 and cysteine-rich domain-containing protein 2 isoform X4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    40074418..40089823 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054315943.1 → XP_054171918.1  SH3 and cysteine-rich domain-containing protein 2 isoform X2

  2. XM_054315942.1 → XP_054171917.1  SH3 and cysteine-rich domain-containing protein 2 isoform X1

  3. XM_054315944.1 → XP_054171919.1  SH3 and cysteine-rich domain-containing protein 2 isoform X3

  4. XM_054315945.1 → XP_054171920.1  SH3 and cysteine-rich domain-containing protein 2 isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6ZMT1.1 GenPept UniProtKB/Swiss-Prot:Q6ZMT1

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