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SH3BP2 SH3 domain binding protein 2 [ Homo sapiens (human) ]

Gene ID: 6452, updated on 9-Feb-2020

Summary

Official Symbol
SH3BP2provided by HGNC
Official Full Name
SH3 domain binding protein 2provided by HGNC
Primary source
HGNC:HGNC:10825
See related
Ensembl:ENSG00000087266 MIM:602104
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
3BP2; CRBM; CRPM; 3BP-2; RES4-23
Summary
The protein encoded by this gene has an N-terminal pleckstrin homology (PH) domain, an SH3-binding proline-rich region, and a C-terminal SH2 domain. The protein binds to the SH3 domains of several proteins including the ABL1 and SYK protein tyrosine kinases , and functions as a cytoplasmic adaptor protein to positively regulate transcriptional activity in T, natural killer (NK), and basophilic cells. Mutations in this gene result in cherubism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
Expression
Ubiquitous expression in spleen (RPKM 16.5), skin (RPKM 14.5) and 25 other tissues See more
Orthologs

Genomic context

See SH3BP2 in Genome Data Viewer
Location:
4p16.3
Exon count:
16
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (2793085..2841096)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (2794750..2842823)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene TNFAIP3 interacting protein 2 Neighboring gene uncharacterized LOC102723763 Neighboring gene nonconserved acetylation island sequence 125 enhancer Neighboring gene adducin 1 Neighboring gene major facilitator superfamily domain containing 10

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ42079, FLJ54978

Gene Ontology Provided by GOA

Function Evidence Code Pubs
SH3 domain binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
SH3/SH2 adaptor activity IEA
Inferred from Electronic Annotation
more info
 
phosphotyrosine residue binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
positive regulation of signal transduction IEA
Inferred from Electronic Annotation
more info
 
signal transduction IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
SH3 domain-binding protein 2
Names
Abl-SH3 binding protein 2
TNFAIP3 interacting protein 2
epididymis secretory sperm binding protein

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_011609.1 RefSeqGene

    Range
    5063..53074
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1334

mRNA and Protein(s)

  1. NM_001122681.2NP_001116153.1  SH3 domain-binding protein 2 isoform a

    See identical proteins and their annotated locations for NP_001116153.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents use of an alternative promoter and 5' UTR and uses a downstream translation start site, compared to variant 3. The resulting isoform (a) has a shorter N-terminus, compared to isoform b. Variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AK225497, AK312286, AL121750
    Consensus CDS
    CCDS33944.1
    UniProtKB/Swiss-Prot
    P78314
    Related
    ENSP00000422168.3, ENST00000503393.8
    Conserved Domains (3) summary
    cd10359
    Location:456556
    SH2_SH3BP2; Src homology 2 domain found in c-Abl SH3 domain-binding protein-2 (SH3BP2)
    cd13308
    Location:19133
    PH_3BP2; SH3 domain-binding protein 2 Pleckstrin homology (PH) domain
    cl25751
    Location:254482
    DUF4045; Domain of unknown function (DUF4045)
  2. NM_001145855.2NP_001139327.1  SH3 domain-binding protein 2 isoform c

    See identical proteins and their annotated locations for NP_001139327.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) represents use of an alternative promoter and 5' UTR and uses an alternate translation start site, compared to variant 3. The resulting isoform (c) has a shorter and distinct N-terminus, compared to isoform b.
    Source sequence(s)
    AK299996, AK312286, AL121750, DC391267
    Consensus CDS
    CCDS54715.1
    UniProtKB/Swiss-Prot
    P78314
    Related
    ENSP00000403231.3, ENST00000435136.8
    Conserved Domains (3) summary
    cd10359
    Location:484584
    SH2_SH3BP2; Src homology 2 domain found in c-Abl SH3 domain-binding protein-2 (SH3BP2)
    cd13308
    Location:47161
    PH_3BP2; SH3 domain-binding protein 2 Pleckstrin homology (PH) domain
    pfam00169
    Location:55157
    PH; PH domain
  3. NM_001145856.2NP_001139328.1  SH3 domain-binding protein 2 isoform b

    See identical proteins and their annotated locations for NP_001139328.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) encodes the longest isoform (b).
    Source sequence(s)
    AK225497, AL121750, U56386
    Consensus CDS
    CCDS54716.1
    UniProtKB/Swiss-Prot
    P78314
    Related
    ENSP00000424846.2, ENST00000511747.6
    Conserved Domains (3) summary
    cd10359
    Location:513613
    SH2_SH3BP2; Src homology 2 domain found in c-Abl SH3 domain-binding protein-2 (SH3BP2)
    cd13308
    Location:76190
    PH_3BP2; SH3 domain-binding protein 2 Pleckstrin homology (PH) domain
    pfam00169
    Location:84186
    PH; PH domain
  4. NM_003023.4NP_003014.3  SH3 domain-binding protein 2 isoform a

    See identical proteins and their annotated locations for NP_003014.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents use of an alternative promoter and 5' UTR and uses a downstream translation start site, compared to variant 3. The resulting isoform (a) has a shorter N-terminus, compared to isoform b. Both variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AB000462, AK312286, AL121750
    Consensus CDS
    CCDS33944.1
    UniProtKB/Swiss-Prot
    P78314
    Related
    ENSP00000348685.5, ENST00000356331.9
    Conserved Domains (3) summary
    cd10359
    Location:456556
    SH2_SH3BP2; Src homology 2 domain found in c-Abl SH3 domain-binding protein-2 (SH3BP2)
    cd13308
    Location:19133
    PH_3BP2; SH3 domain-binding protein 2 Pleckstrin homology (PH) domain
    cl25751
    Location:254482
    DUF4045; Domain of unknown function (DUF4045)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    2793085..2841096
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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