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    SH2D7 SH2 domain containing 7 [ Homo sapiens (human) ]

    Gene ID: 646892, updated on 2-Nov-2024

    Summary

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    Official Symbol
    SH2D7provided by HGNC
    Official Full Name
    SH2 domain containing 7provided by HGNC
    Primary source
    HGNC:HGNC:34549
    See related
    Ensembl:ENSG00000183476 AllianceGenome:HGNC:34549
    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
    Summary
    Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See SH2D7 in Genome Data Viewer
    Location:
    15q25.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (78090122..78104362)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (75952673..75966918)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (78384903..78396704)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ADAMTS7 pseudogene 3 Neighboring gene uncharacterized LOC91450 Neighboring gene TBC1 domain family member 2B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9900 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6701 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9901 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9902 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9903 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9904 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9905 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9907 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9906 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6702 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6703 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6704 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:78376354-78376854 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9909 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9910 Neighboring gene calcium and integrin binding family member 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6705 Neighboring gene uncharacterized LOC124903534

    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 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. Analysis of the DNA sequence and duplication history of human chromosome 15. Zody MC, et al. Nature, 2006 Mar 30. PMID 16572171
    2. The sequence of the human genome. Venter JC, et al. Science, 2001 Feb 16. PMID 11181995
    3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    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

    General gene information

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    Homology

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    SH2 domain-containing protein 7
    Names
    Putative SH2 domain-containing protein LOC646892

    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.

    mRNA and Protein(s)

    1. NM_001101404.2 → NP_001094874.1  SH2 domain-containing protein 7

      See identical proteins and their annotated locations for NP_001094874.1

      Status: VALIDATED

      Source sequence(s)
      AC090260
      Consensus CDS
      CCDS45315.1
      UniProtKB/Swiss-Prot
      A6NKC9
      Related
      ENSP00000327846.5, ENST00000328828.6
      Conserved Domains (1) summary
      cd10417
      Location:43 → 144
      SH2_SH2D7; Src homology 2 domain found in the SH2 domain containing protein 7 (SH2D7)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      78090122..78104362
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017022487.2 → XP_016877976.2  SH2 domain-containing protein 7 isoform X1

    2. XM_047432942.1 → XP_047288898.1  SH2 domain-containing protein 7 isoform X2

    3. XM_047432944.1 → XP_047288900.1  SH2 domain-containing protein 7 isoform X3

      Related
      ENSP00000386676.2, ENST00000409568.6

    4. XM_047432943.1 → XP_047288899.1  SH2 domain-containing protein 7 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      75952673..75966918
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054378622.1 → XP_054234597.1  SH2 domain-containing protein 7 isoform X1

    2. XM_054378623.1 → XP_054234598.1  SH2 domain-containing protein 7 isoform X2

    3. XM_054378625.1 → XP_054234600.1  SH2 domain-containing protein 7 isoform X3

    4. XM_054378624.1 → XP_054234599.1  SH2 domain-containing protein 7 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NKC9.2 GenPept UniProtKB/Swiss-Prot:A6NKC9

    Gene LinkOut

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

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