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    SH2D5 SH2 domain containing 5 [ Homo sapiens (human) ]

    Gene ID: 400745, updated on 2-Nov-2024

    Summary

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    Official Symbol
    SH2D5provided by HGNC
    Official Full Name
    SH2 domain containing 5provided by HGNC
    Primary source
    HGNC:HGNC:28819
    See related
    Ensembl:ENSG00000189410 AllianceGenome:HGNC:28819
    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 located in synapse. Predicted to be active in postsynaptic density. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in brain (RPKM 4.0), testis (RPKM 2.1) and 3 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SH2D5 in Genome Data Viewer
    Location:
    1p36.12
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (20719731..20732703, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (20546303..20559270, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (21046224..21059196, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:20987241-20988160 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:20988161-20989080 Neighboring gene PINK1 antisense RNA Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:21011543-21012044 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:21015049-21015549 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:21015960-21016182 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 368 Neighboring gene dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:21036574-21037228 Neighboring gene kinesin family member 17 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 369 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 370 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:21054065-21054727 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:21054728-21055389 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:21056983-21057676 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:21057677-21058368 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:21058590-21059262 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:21059263-21059933 Neighboring gene heterochromatin protein 1 binding protein 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:21112523-21112715 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 375 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 376 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:21146362-21146862 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:21146863-21147363 Neighboring gene eukaryotic translation initiation factor 4 gamma 3 Neighboring gene RNA, U7 small nuclear 200 pseudogene

    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. Prognostic significance of SH2D5 expression in lung adenocarcinoma and its relation to immune cell infiltration. Zhou H, et al. PeerJ, 2023. PMID 37187527, Free PMC Article
    2. Hepatitis B virus X protein-induced SH2 domain-containing 5 (SH2D5) expression promotes hepatoma cell growth via an SH2D5-transketolase interaction. Zheng Y, et al. J Biol Chem, 2019 Mar 29. PMID 30659097, Free PMC Article
    3. Src homology 2 domain containing protein 5 (SH2D5) binds the breakpoint cluster region protein, BCR, and regulates levels of Rac1-GTP. Gray EJ, et al. J Biol Chem, 2014 Dec 19. PMID 25331951, Free PMC Article
    4. A quantitative protein interaction network for the ErbB receptors using protein microarrays. Jones RB, et al. Nature, 2006 Jan 12. PMID 16273093
    5. Selected reaction monitoring mass spectrometry reveals the dynamics of signaling through the GRB2 adaptor. Bisson N, et al. Nat Biotechnol, 2011 Jun 26. PMID 21706016

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Prognostic significance of SH2D5 expression in lung adenocarcinoma and its relation to immune cell infiltration.
      Title: Prognostic significance of SH2D5 expression in lung adenocarcinoma and its relation to immune cell infiltration.
    2. results suggest that SH2D5 is an HBV-induced protein capable of binding to TKT, leading to induction of HCC cell proliferation.
      Title: Hepatitis B virus X protein-induced SH2 domain-containing 5 (SH2D5) expression promotes hepatoma cell growth via an SH2D5-transketolase interaction.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ41242, FLJ41847, FLJ42879

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in postsynaptic density IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in postsynaptic density ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    SH2 domain-containing protein 5

    NCBI Reference Sequences (RefSeq)

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    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_001103160.2 → NP_001096630.1  SH2 domain-containing protein 5 isoform 2

      See identical proteins and their annotated locations for NP_001096630.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon and the resulting predicted protein isoform (2) has a shorter N-terminus.
      Source sequence(s)
      AK124869, AL663074
      Consensus CDS
      CCDS41280.1
      UniProtKB/Swiss-Prot
      Q6ZV89
      Related
      ENSP00000364171.1, ENST00000375031.5
      Conserved Domains (2) summary
      cd00173
      Location:212 → 288
      SH2; Src homology 2 (SH2) domain
      cl17171
      Location:1 → 66
      PH-like; Pleckstrin homology-like domain

    2. NM_001103161.2 → NP_001096631.1  SH2 domain-containing protein 5 isoform 1

      See identical proteins and their annotated locations for NP_001096631.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) includes an alternate exon and encodes a predicted protein isoform (1) with a longer N-terminus compared to isoform 2.
      Source sequence(s)
      AK124869, AL663074, DC382086
      Consensus CDS
      CCDS44080.1
      UniProtKB/Swiss-Prot
      B7Z3W3, Q5SSJ2, Q6ZV89
      Related
      ENSP00000406026.2, ENST00000444387.7
      Conserved Domains (2) summary
      cd00173
      Location:296 → 372
      SH2; Src homology 2 (SH2) domain
      cd13157
      Location:23 → 150
      PTB_tensin-related; Tensin-related Phosphotyrosine-binding (PTB) domain

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      20719731..20732703 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011541461.3 → XP_011539763.1  SH2 domain-containing protein 5 isoform X1

      See identical proteins and their annotated locations for XP_011539763.1

      UniProtKB/Swiss-Prot
      B7Z3W3, Q5SSJ2, Q6ZV89
      Conserved Domains (2) summary
      cd00173
      Location:296 → 372
      SH2; Src homology 2 (SH2) domain
      cd13157
      Location:23 → 150
      PTB_tensin-related; Tensin-related Phosphotyrosine-binding (PTB) domain

    2. XM_011541460.2 → XP_011539762.1  SH2 domain-containing protein 5 isoform X1

      See identical proteins and their annotated locations for XP_011539762.1

      UniProtKB/Swiss-Prot
      B7Z3W3, Q5SSJ2, Q6ZV89
      Conserved Domains (2) summary
      cd00173
      Location:296 → 372
      SH2; Src homology 2 (SH2) domain
      cd13157
      Location:23 → 150
      PTB_tensin-related; Tensin-related Phosphotyrosine-binding (PTB) domain

    3. XM_011541462.2 → XP_011539764.1  SH2 domain-containing protein 5 isoform X2

      Conserved Domains (2) summary
      cd00173
      Location:295 → 371
      SH2; Src homology 2 (SH2) domain
      cd13157
      Location:23 → 150
      PTB_tensin-related; Tensin-related Phosphotyrosine-binding (PTB) domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      20546303..20559270 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336571.1 → XP_054192546.1  SH2 domain-containing protein 5 isoform X1

      UniProtKB/Swiss-Prot
      B7Z3W3, Q5SSJ2, Q6ZV89

    2. XM_054336570.1 → XP_054192545.1  SH2 domain-containing protein 5 isoform X1

      UniProtKB/Swiss-Prot
      B7Z3W3, Q5SSJ2, Q6ZV89

    3. XM_054336572.1 → XP_054192547.1  SH2 domain-containing protein 5 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZV89.2 GenPept UniProtKB/Swiss-Prot:Q6ZV89

    Gene LinkOut

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

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