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    SH2D4B SH2 domain containing 4B [ Homo sapiens (human) ]

    Gene ID: 387694, updated on 27-Nov-2024

    Summary

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    Official Symbol
    SH2D4Bprovided by HGNC
    Official Full Name
    SH2 domain containing 4Bprovided by HGNC
    Primary source
    HGNC:HGNC:31440
    See related
    Ensembl:ENSG00000178217 AllianceGenome:HGNC:31440
    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 SH2D4B in Genome Data Viewer
    Location:
    10q23.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (80537902..80646560)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (81405201..81518620)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (82297658..82406316)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:82214375-82214892 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3657 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3658 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3659 Neighboring gene Sharpr-MPRA regulatory region 907 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:82224527-82225098 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:82225099-82225670 Neighboring gene Sharpr-MPRA regulatory region 4556 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3660 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3661 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3662 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3663 Neighboring gene tetraspanin 14 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2547 Neighboring gene Sharpr-MPRA regulatory region 2609 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:82257110-82258073 Neighboring gene Sharpr-MPRA regulatory region 10623 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3664 Neighboring gene uncharacterized LOC124902471 Neighboring gene TSPAN14 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3665 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2548 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3666 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3667 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3668 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3669 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3670 Neighboring gene MPRA-validated peak1027 silencer Neighboring gene uncharacterized LOC105378387 Neighboring gene long intergenic non-protein coding RNA 2655 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:82459171-82459696 Neighboring gene ribosomal protein S7 pseudogene 9

    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. Identification of novel germline polymorphisms governing capecitabine sensitivity. O'Donnell PH, et al. Cancer, 2012 Aug 15. PMID 22864933, Free PMC Article
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
    4. 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

    What's a GeneRIF?
    1. 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

    EBI GWAS Catalog

    Description
    Identification of novel germline polymorphisms governing capecitabine sensitivity.
    EBI GWAS Catalog

    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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    Markers

    Homology

    Clone Names

    • FLJ41984

    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 4B
    Names
    novel SH2 domain-containing 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.

    mRNA and Protein(s)

    1. NM_001145719.1 → NP_001139191.1  SH2 domain-containing protein 4B isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) represents transcription from an alternate promoter site. The transcript has a distinct first exon, which includes the inferred translation initiation site, resulting in a protein (isoform 2) with a distinct N-terminus.
      Source sequence(s)
      AK123885, AK123978
      Consensus CDS
      CCDS44449.1
      UniProtKB/Swiss-Prot
      Q5SQS7
      Related
      ENSP00000314242.4, ENST00000313455.5
      Conserved Domains (1) summary
      PTZ00121
      Location:52 → 273
      PTZ00121; MAEBL; Provisional

    2. NM_001388272.1 → NP_001375201.1  SH2 domain-containing protein 4B isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC021028, AL731544
      Consensus CDS
      CCDS91286.1
      UniProtKB/Swiss-Prot
      Q5SQS5, Q5SQS7, Q6ZVW9, Q6ZVZ3
      UniProtKB/TrEMBL
      A0A2R8Y5Q0
      Related
      ENSP00000494732.1, ENST00000646907.2
      Conserved Domains (2) summary
      PTZ00121
      Location:30 → 355
      PTZ00121; MAEBL; Provisional
      cd10351
      Location:319 → 421
      SH2_SH2D4B; Src homology 2 domain found in the SH2 domain containing protein 4B (SH2D4B)

    3. NM_207372.2 → NP_997255.2  SH2 domain-containing protein 4B isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents transcription from an alternate promoter site. The transcript has a distinct first exon, which includes the inferred translation initiation site, resulting in a protein (isoform 1) with a distinct N-terminus.
      Source sequence(s)
      AK123885, AK123978
      Consensus CDS
      CCDS7370.1
      UniProtKB/Swiss-Prot
      Q5SQS7
      Related
      ENSP00000345295.2, ENST00000339284.6
      Conserved Domains (1) summary
      PTZ00121
      Location:30 → 321
      PTZ00121; MAEBL; Provisional

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      80537902..80646560
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      81405201..81518620
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054365880.1 → XP_054221855.1  SH2 domain-containing protein 4B isoform X1

    2. XM_054365881.1 → XP_054221856.1  SH2 domain-containing protein 4B isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5SQS7.1 GenPept UniProtKB/Swiss-Prot:Q5SQS7

    Gene LinkOut

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

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