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SH2D2A SH2 domain containing 2A [ Homo sapiens (human) ]

Gene ID: 9047, updated on 3-Apr-2024

Summary

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Official Symbol
SH2D2Aprovided by HGNC
Official Full Name
SH2 domain containing 2Aprovided by HGNC
Primary source
HGNC:HGNC:10821
See related
Ensembl:ENSG00000027869 MIM:604514; AllianceGenome:HGNC:10821
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
SCAP; TSAD; VRAP; F2771
Summary
This gene encodes an adaptor protein thought to function in T-cell signal transduction. A related protein in mouse is responsible for the activation of lymphocyte-specific protein-tyrosine kinase and functions in downstream signaling. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
Expression
Broad expression in appendix (RPKM 5.2), lymph node (RPKM 3.5) and 17 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
1q23.1
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (156806243..156816848, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (155943096..155953700, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (156776035..156786640, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:156711011-156711988 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1877 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1878 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:156717051-156717748 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:156717749-156718446 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:156718447-156719143 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:156721068-156721842 Neighboring gene mitochondrial ribosomal protein L24 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:156729657-156730190 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:156730191-156730723 Neighboring gene heparin binding growth factor Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:156736100-156736726 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:156736727-156737352 Neighboring gene proline rich mitotic checkpoint control factor Neighboring gene Sharpr-MPRA regulatory region 3718 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:156774267-156774768 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:156778787-156779288 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:156783176-156783722 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1438 Neighboring gene neurotrophic receptor tyrosine kinase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1882 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1883 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1884 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:156808560-156809060 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:156811133-156811814 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:156811815-156812494 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:156814249-156814884 Neighboring gene Sharpr-MPRA regulatory region 5756 Neighboring gene insulin receptor related receptor Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1885 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1439 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1440 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:156830955-156831498 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:156836581-156837238 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:156844837-156845734 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:156862813-156863317 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:156865761-156866960 Neighboring gene platelet endothelial aggregation receptor 1

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. Expression of the T cell-specific adapter protein in human tissues. Pandya AD, et al. Scand J Immunol, 2014 Sep. PMID 24910151
  2. The SH2D2A gene and susceptibility to multiple sclerosis. Lorentzen AR, et al. J Neuroimmunol, 2008 Jul 15. PMID 18554728
  3. Susceptibility to chronic inflammatory demyelinating polyradiculoneuropathy is associated to polymorphic GA repeat in the SH2D2A gene. Notturno F, et al. J Neuroimmunol, 2008 Jul 15. PMID 18533279
  4. Expression of SH2D2A in T-cells is regulated both at the transcriptional and translational level. Kolltveit KM, et al. Mol Immunol, 2008 Apr. PMID 18160104
  5. The adaptor protein Lad associates with the G protein beta subunit and mediates chemokine-dependent T-cell migration. Park D, et al. Blood, 2007 Jun 15. PMID 17327418

See all (51) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Downregulation of lncRNA XIST may promote Th17 differentiation through KDM6A-TSAd pathway in neuromyelitis optica spectrum disorders.
    Title: Downregulation of lncRNA XIST may promote Th17 differentiation through KDM6A-TSAd pathway in neuromyelitis optica spectrum disorders.
  2. TSAd Plays a Major Role in Myo9b-Mediated Suppression of Malignant Pleural Effusion by Regulating TH1/TH17 Cell Response.
    Title: TSAd Plays a Major Role in Myo9b-Mediated Suppression of Malignant Pleural Effusion by Regulating T(H)1/T(H)17 Cell Response.
  3. The ITK SH3 and LCK SH3 domains can both competefor and simultaneously bind to adjacent binding sites on TSAD encompassing aa 242-268.
    Title: The SH3 domains of the protein kinases ITK and LCK compete for adjacent sites on T cell-specific adapter protein.
  4. Data indicate that the T cell-specific adaptor protein (TSAd) SH2 domain interacts with CD6 antigen and linker for activation of T cells protein (LAT) phosphotyrosine (pTyr) peptides.
    Title: CD6 and Linker of Activated T Cells are Potential Interaction Partners for T Cell-Specific Adaptor Protein.
  5. TSAD binds to and co-localizes with Nck. Expression of TSAD increases both Nck-Lck and Nck-SLP-76 interaction in T cells.
    Title: T cell specific adaptor protein (TSAd) promotes interaction of Nck with Lck and SLP-76 in T cells.
  6. The kinase Itk and the adaptor TSAd change the specificity of the kinase Lck in T cells by promoting the phosphorylation of Tyr192.
    Title: The kinase Itk and the adaptor TSAd change the specificity of the kinase Lck in T cells by promoting the phosphorylation of Tyr192.
  7. Data indicate the expression pattern of T cell-specific adapter protein (TSAd) in various healthy lymphoid and non-lymphoid tissues.
    Title: Expression of the T cell-specific adapter protein in human tissues.
  8. in chronic inflammatory demyelinating polyneuropathy we found an association with a homozygous genotype for a low repeat number of tandem GA in the SH2D2A gene
    Title: Polymorphism of CD1 and SH2D2A genes in inflammatory neuropathies.
  9. TSAd, through its interaction with both Itk and Lck, primes Itk for Lck mediated phosphorylation and thereby regulates CXCL12 induced T cell migration and actin cytoskeleton rearrangements
    Title: T cell specific adapter protein (TSAd) interacts with Tec kinase ITK to promote CXCL12 induced migration of human and murine T cells.
  10. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Submit: New GeneRIF Correction See all GeneRIFs (19)

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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables SH3 domain 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 T cell proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in angiogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in signal transduction TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
SH2 domain-containing protein 2A
Names
SH2 domain protein 2A
T cell specific adapter protein TSAd
T lymphocyte specific adaptor protein
VEGF receptor-associated protein

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_016849.1 RefSeqGene

    Range
    5001..15606
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001161441.2 → NP_001154913.1  SH2 domain-containing protein 2A isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AL158169, AY763099, BQ012931, DB128222
    Consensus CDS
    CCDS53381.1
    UniProtKB/TrEMBL
    Q5UBZ2
    Related
    ENSP00000376123.2, ENST00000392306.2
    Conserved Domains (1) summary
    cl15255
    Location:87 → 198
    SH2; Src homology 2 (SH2) domain

  2. NM_001161442.2 → NP_001154914.1  SH2 domain-containing protein 2A isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, has multiple differences in the coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AF051325, AL158169, DB128222
    Consensus CDS
    CCDS53380.1
    UniProtKB/TrEMBL
    Q5UBZ3
    Related
    ENSP00000357181.3, ENST00000368198.7
    Conserved Domains (1) summary
    cd10416
    Location:69 → 170
    SH2_SH2D2A; Src homology 2 domain found in the SH2 domain containing protein 2A (SH2D2A)

  3. NM_001161443.2 → NP_001154915.1  SH2 domain-containing protein 2A isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, has multiple differences in the coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (4) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AL158169, AY763098, BQ012931
    UniProtKB/TrEMBL
    Q5UBZ3
    Conserved Domains (1) summary
    cd10416
    Location:59 → 160
    SH2_SH2D2A; Src homology 2 domain found in the SH2 domain containing protein 2A (SH2D2A)

  4. NM_001161444.2 → NP_001154916.1  SH2 domain-containing protein 2A isoform 2

    See identical proteins and their annotated locations for NP_001154916.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 3' UTR, and coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1. Variants 2 and 5 encode the same isoform (2).
    Source sequence(s)
    AK222737, DB128222
    Consensus CDS
    CCDS1159.1
    UniProtKB/Swiss-Prot
    O43817, Q5UBZ1, Q5VZS4, Q5VZS5, Q9NP31, Q9UPA7
    UniProtKB/TrEMBL
    B2R9A4
    Conserved Domains (1) summary
    cd10416
    Location:87 → 188
    SH2_SH2D2A; Src homology 2 domain found in the SH2 domain containing protein 2A (SH2D2A)

  5. NM_003975.4 → NP_003966.2  SH2 domain-containing protein 2A isoform 2

    See identical proteins and their annotated locations for NP_003966.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1. Variants 2 and 5 encode the same isoform (2).
    Source sequence(s)
    AL158169, BC012107, DB128222
    Consensus CDS
    CCDS1159.1
    UniProtKB/Swiss-Prot
    O43817, Q5UBZ1, Q5VZS4, Q5VZS5, Q9NP31, Q9UPA7
    UniProtKB/TrEMBL
    B2R9A4
    Related
    ENSP00000357182.3, ENST00000368199.8
    Conserved Domains (1) summary
    cd10416
    Location:87 → 188
    SH2_SH2D2A; Src homology 2 domain found in the SH2 domain containing protein 2A (SH2D2A)

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    156806243..156816848 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047433655.1 → XP_047289611.1  SH2 domain-containing protein 2A isoform X7

  2. XM_017002766.2 → XP_016858255.1  SH2 domain-containing protein 2A isoform X5

    UniProtKB/TrEMBL
    Q5UBZ3

  3. XM_017002765.2 → XP_016858254.1  SH2 domain-containing protein 2A isoform X4

    UniProtKB/TrEMBL
    Q5UBZ3

  4. XM_017002764.3 → XP_016858253.1  SH2 domain-containing protein 2A isoform X3

    UniProtKB/TrEMBL
    B2R9A4

  5. XM_006711615.3 → XP_006711678.1  SH2 domain-containing protein 2A isoform X2

    UniProtKB/TrEMBL
    B2R9A4
    Conserved Domains (1) summary
    cd10416
    Location:93 → 194
    SH2_SH2D2A; Src homology 2 domain found in the SH2 domain containing protein 2A (SH2D2A)

  6. XM_017002762.3 → XP_016858251.1  SH2 domain-containing protein 2A isoform X1

    UniProtKB/TrEMBL
    Q5UBZ2

  7. XM_047433652.1 → XP_047289608.1  SH2 domain-containing protein 2A isoform X6

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    155943096..155953700 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054339509.1 → XP_054195484.1  SH2 domain-containing protein 2A isoform X7

  2. XM_054339507.1 → XP_054195482.1  SH2 domain-containing protein 2A isoform X5

  3. XM_054339506.1 → XP_054195481.1  SH2 domain-containing protein 2A isoform X4

  4. XM_054339505.1 → XP_054195480.1  SH2 domain-containing protein 2A isoform X3

  5. XM_054339504.1 → XP_054195479.1  SH2 domain-containing protein 2A isoform X2

  6. XM_054339503.1 → XP_054195478.1  SH2 domain-containing protein 2A isoform X1

  7. XM_054339508.1 → XP_054195483.1  SH2 domain-containing protein 2A isoform X6

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NP31.3 GenPept UniProtKB/Swiss-Prot:Q9NP31

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