Format

Send to:

Choose Destination

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

Gene ID: 6452, updated on 12-May-2016
Official Symbol
SH3BP2provided by HGNC
Official Full Name
SH3 domain binding protein 2provided by HGNC
Primary source
HGNC:HGNC:10825
See related
Ensembl:ENSG00000087266 HPRD:03657; MIM:602104; Vega:OTTHUMG00000160801
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]
Orthologs
Location:
4p16.3
Exon count:
22
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 4 NC_000004.12 (2793023..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 adducin 1 Neighboring gene major facilitator superfamily domain containing 10

Related articles in PubMed

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ42079, FLJ54978

Gene Ontology Provided by GOA

Function Evidence Code Pubs
SH3 domain binding IEA
Inferred from Electronic Annotation
more info
 
SH3/SH2 adaptor activity TAS
Traceable Author Statement
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 TAS
Traceable Author Statement
more info
PubMed 
Preferred Names
SH3 domain-binding protein 2
Names
Abl-SH3 binding protein 2
SH3-domain binding protein 2
TNFAIP3 interacting protein 2

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
    5001..53074
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001122681.1NP_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. Both variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AK225497, AK312286, AL121750
    Consensus CDS
    CCDS33944.1
    UniProtKB/Swiss-Prot
    P78314
    Related
    ENSP00000409746, OTTHUMP00000219014, ENST00000452765, OTTHUMT00000362374
    Conserved Domains (2) 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
  2. NM_001145855.1NP_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
    ENSP00000388152, ENST00000442312
    Conserved Domains (2) 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
  3. NM_001145856.1NP_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
    ENSP00000422168, ENST00000503393
    Conserved Domains (2) 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
  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, OTTHUMP00000219027, ENST00000356331, OTTHUMT00000362406
    Conserved Domains (2) 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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p2 Primary Assembly

    Range
    2793023..2841096
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005247999.3XP_005248056.1  

    See identical proteins and their annotated locations for XP_005248056.1

    UniProtKB/Swiss-Prot
    P78314
    Conserved Domains (2) 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
  2. XM_011513553.1XP_011511855.1  

    See identical proteins and their annotated locations for XP_011511855.1

    Conserved Domains (1) summary
    cd10359
    Location:335435
    SH2_SH3BP2; Src homology 2 domain found in c-Abl SH3 domain-binding protein-2 (SH3BP2)
  3. XM_005247998.3XP_005248055.1  

    Conserved Domains (2) summary
    cd10359
    Location:459559
    SH2_SH3BP2; Src homology 2 domain found in c-Abl SH3 domain-binding protein-2 (SH3BP2)
    cd13308
    Location:22136
    PH_3BP2; SH3 domain-binding protein 2 Pleckstrin homology (PH) domain
  4. XM_011513550.1XP_011511852.1  

    See identical proteins and their annotated locations for XP_011511852.1

    UniProtKB/Swiss-Prot
    P78314
    Conserved Domains (2) 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
  5. XM_011513549.1XP_011511851.1  

    See identical proteins and their annotated locations for XP_011511851.1

    UniProtKB/Swiss-Prot
    P78314
    Related
    ENSP00000403231, OTTHUMP00000219024, ENST00000435136, OTTHUMT00000362401
    Conserved Domains (2) 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
  6. XM_011513547.1XP_011511849.1  

    See identical proteins and their annotated locations for XP_011511849.1

    UniProtKB/Swiss-Prot
    P78314
    Conserved Domains (2) 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
  7. XM_011513548.1XP_011511850.1  

    Conserved Domains (1) summary
    cd13308
    Location:19133
    PH_3BP2; SH3 domain-binding protein 2 Pleckstrin homology (PH) domain
  8. XM_011513551.1XP_011511853.1  

    Conserved Domains (1) summary
    cd13308
    Location:19133
    PH_3BP2; SH3 domain-binding protein 2 Pleckstrin homology (PH) domain
  9. XM_011513555.1XP_011511857.1  

    Conserved Domains (1) summary
    cd13308
    Location:19133
    PH_3BP2; SH3 domain-binding protein 2 Pleckstrin homology (PH) domain
  10. XM_011513556.1XP_011511858.1  

    Conserved Domains (1) summary
    cd13308
    Location:19133
    PH_3BP2; SH3 domain-binding protein 2 Pleckstrin homology (PH) domain
  11. XM_011513554.1XP_011511856.1  

    Conserved Domains (2) summary
    cd10359
    Location:233319
    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
  12. XM_011513552.1XP_011511854.1  

    See identical proteins and their annotated locations for XP_011511854.1

    Conserved Domains (2) summary
    cd10359
    Location:399499
    SH2_SH3BP2; Src homology 2 domain found in c-Abl SH3 domain-binding protein-2 (SH3BP2)
    cl17171
    Location:2676
    PH-like; Pleckstrin homology-like domain

RNA

  1. XR_924990.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018915.2 Alternate CHM1_1.1

    Range
    2792693..2840796
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)