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    SH2D4A SH2 domain containing 4A [ Homo sapiens (human) ]

    Gene ID: 63898, updated on 7-Apr-2024

    Summary

    Official Symbol
    SH2D4Aprovided by HGNC
    Official Full Name
    SH2 domain containing 4Aprovided by HGNC
    Primary source
    HGNC:HGNC:26102
    See related
    Ensembl:ENSG00000104611 MIM:614968; AllianceGenome:HGNC:26102
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SH2A; PPP1R38
    Summary
    Enables phosphatase binding activity. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in ovary (RPKM 11.6), stomach (RPKM 9.2) and 22 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    8p21.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (19313693..19396218)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (19578579..19661102)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (19171204..19253729)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379300 Neighboring gene uncharacterized LOC105379306 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:19230007-19230168 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27055 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27056 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:19263473-19263973 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:19262972-19263472 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27057 Neighboring gene chondroitin sulfate N-acetylgalactosaminyltransferase 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr8:19394183-19395382 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:19435762-19436961 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:19497293-19497837 Neighboring gene uncharacterized LOC124901900 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:19522068-19523267 Neighboring gene uncharacterized LOC124901899 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:19536806-19537406

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.
    EBI GWAS Catalog
    Genome-wide association study of urinary albumin excretion rate in patients with type 1 diabetes.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ20967

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phosphatase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables phosphatase binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    SH2 domain-containing protein 4A
    Names
    protein SH(2)A
    protein phosphatase 1 regulatory subunit 38

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001174159.2NP_001167630.1  SH2 domain-containing protein 4A isoform a

      See identical proteins and their annotated locations for NP_001167630.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same isoform (a).
      Source sequence(s)
      AK024799, BC082982, CA418381
      Consensus CDS
      CCDS6009.1
      UniProtKB/Swiss-Prot
      B4DDR1, Q5XKC1, Q6NXE9, Q86YM2, Q96C88, Q9H788, Q9H7F7
      Related
      ENSP00000428684.1, ENST00000519207.5
      Conserved Domains (1) summary
      cd10350
      Location:339442
      SH2_SH2D4A; Src homology 2 domain found in the SH2 domain containing protein 4A (SH2D4A)
    2. NM_001174160.2NP_001167631.1  SH2 domain-containing protein 4A isoform b

      See identical proteins and their annotated locations for NP_001167631.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) has a shorter and distinct N-terminus compared to isoform a.
      Source sequence(s)
      AK024799, AK293301, CA418381, DA952240
      Consensus CDS
      CCDS55206.1
      UniProtKB/Swiss-Prot
      Q9H788
      Related
      ENSP00000429482.1, ENST00000518040.5
      Conserved Domains (1) summary
      cd10350
      Location:294397
      SH2_SH2D4A; Src homology 2 domain found in the SH2 domain containing protein 4A (SH2D4A)
    3. NM_001363110.2NP_001350039.1  SH2 domain-containing protein 4A isoform c

      Status: VALIDATED

      Source sequence(s)
      AK024799, BC082982, CA418381, DA952240, DB183296
      Conserved Domains (2) summary
      cd10350
      Location:312415
      SH2_SH2D4A; Src homology 2 domain found in the SH2 domain containing protein 4A (SH2D4A)
      cl26511
      Location:99251
      Neuromodulin_N; Gap junction protein N-terminal region
    4. NM_001363111.2NP_001350040.1  SH2 domain-containing protein 4A isoform c

      Status: VALIDATED

      Source sequence(s)
      AK024799, BC082982, CA418381, DB183296
      Conserved Domains (2) summary
      cd10350
      Location:312415
      SH2_SH2D4A; Src homology 2 domain found in the SH2 domain containing protein 4A (SH2D4A)
      cl26511
      Location:99251
      Neuromodulin_N; Gap junction protein N-terminal region
    5. NM_022071.4NP_071354.2  SH2 domain-containing protein 4A isoform a

      See identical proteins and their annotated locations for NP_071354.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 both encode the same isoform (a).
      Source sequence(s)
      AK024799, BC082982, CA418381, DA952240
      Consensus CDS
      CCDS6009.1
      UniProtKB/Swiss-Prot
      B4DDR1, Q5XKC1, Q6NXE9, Q86YM2, Q96C88, Q9H788, Q9H7F7
      Related
      ENSP00000265807.3, ENST00000265807.8
      Conserved Domains (1) summary
      cd10350
      Location:339442
      SH2_SH2D4A; Src homology 2 domain found in the SH2 domain containing protein 4A (SH2D4A)

    RNA

    1. NR_156444.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC068880, CA418381, DA952240

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      19313693..19396218
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047422080.1XP_047278036.1  SH2 domain-containing protein 4A isoform X2

    2. XM_047422079.1XP_047278035.1  SH2 domain-containing protein 4A isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      19578579..19661102
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360966.1XP_054216941.1  SH2 domain-containing protein 4A isoform X2

    2. XM_054360965.1XP_054216940.1  SH2 domain-containing protein 4A isoform X1