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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
    mouse all
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    Genomic context

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    See STAC2 in Genome Data Viewer
    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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