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

Gene ID: 387694, updated on 23-Nov-2021

Summary

Official Symbol
SH2D4Bprovided by HGNC
Official Full Name
SH2 domain containing 4Bprovided by HGNC
Primary source
HGNC:HGNC:31440
See related
Ensembl:ENSG00000178217
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
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See SH2D4B in Genome Data Viewer
Location:
10q23.1
Exon count:
8
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (80537902..80646560)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (82297658..82406316)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene tetraspanin 14 Neighboring gene TSPAN14 antisense RNA 1 Neighboring gene uncharacterized LOC105378387 Neighboring gene long intergenic non-protein coding RNA 2655 Neighboring gene ribosomal protein S7 pseudogene 9

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

Phenotypes

Associated conditions

Description Tests
Identification of novel germline polymorphisms governing capecitabine sensitivity.
GeneReviews: Not available

General gene information

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
PubMed 

General protein information

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_001145719.1NP_001139191.1  SH2 domain-containing protein 4B isoform 2

    See identical proteins and their annotated locations for NP_001139191.1

    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:52273
    PTZ00121; MAEBL; Provisional
  2. NM_001388272.1NP_001375201.1  SH2 domain-containing protein 4B isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC021028, AL731544
    Related
    ENSP00000494732.1, ENST00000646907.2
    Conserved Domains (2) summary
    PTZ00121
    Location:30355
    PTZ00121; MAEBL; Provisional
    cd10351
    Location:319421
    SH2_SH2D4B; Src homology 2 domain found in the SH2 domain containing protein 4B (SH2D4B)
  3. NM_207372.2NP_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:30321
    PTZ00121; MAEBL; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017016236.1XP_016871725.1  SH2 domain-containing protein 4B isoform X1

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