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

Gene ID: 646892, updated on 27-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
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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
  • 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)

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

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