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SKAP2 src kinase associated phosphoprotein 2 [ Homo sapiens (human) ]

Gene ID: 8935, updated on 7-Dec-2018

Summary

Official Symbol
SKAP2provided by HGNC
Official Full Name
src kinase associated phosphoprotein 2provided by HGNC
Primary source
HGNC:HGNC:15687
See related
Ensembl:ENSG00000005020 MIM:605215
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
PRAP; RA70; SAPS; SCAP2; SKAP55R; SKAP-HOM
Summary
The protein encoded by this gene shares homology with Src kinase-associated phosphoprotein 1, and is a substrate of Src family kinases. It is an adaptor protein that is thought to play an essential role in the Src signaling pathway, and in regulating proper activation of the immune system. This protein contains an amino terminal coiled-coil domain for self-dimerization, a plecskstrin homology (PH) domain required for interactions with lipids at the membrane, and a Src homology (SH3) domain at the carboxy terminus. Some reports indicate that this protein inhibits actin polymerization through interactions with actin assembly factors, and might negatively regulate the invasiveness of tumors by modulating actin assembly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]
Expression
Ubiquitous expression in spleen (RPKM 10.6), appendix (RPKM 9.8) and 24 other tissues See more
Orthologs

Genomic context

See SKAP2 in Genome Data Viewer
Location:
7p15.2
Exon count:
15
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (26654772..26864743, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (26697397..27034862, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928077 Neighboring gene chromosome 7 open reading frame 71 Neighboring gene VISTA enhancer hs296 Neighboring gene ribosomal protein L7a pseudogene 38 Neighboring gene high mobility group box 3 pseudogene 20

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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.
NHGRI GWA Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
NHGRI GWA Catalog

Pathways from BioSystems

  • Cell-Cell communication, organism-specific biosystem (from REACTOME)
    Cell-Cell communication, organism-specific biosystemCell-to-Cell communication is crucial for multicellular organisms because it allows organisms to coordinate the activity of their cells. Some cell-to-cell communication requires direct cell-cell cont...
  • Signal regulatory protein (SIRP) family interactions, organism-specific biosystem (from REACTOME)
    Signal regulatory protein (SIRP) family interactions, organism-specific biosystemSignal regulatory protein (SIRP)alpha, also known as SHPS-1 or SIRPA or CD172a, is a transmembrane protein expressed mostly on myeloid cells. CD47, a widely expressed transmembrane protein, is a liga...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC10411, MGC33304

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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
B cell activation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of signal transduction IEA
Inferred from Electronic Annotation
more info
 
protein-containing complex assembly TAS
Traceable Author Statement
more info
PubMed 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
src kinase-associated phosphoprotein 2
Names
Fyn-associated phosphoprotein SKAP55 homologue
Pyk2/RAFTK-associated protein
SKAP-55HOM
SKAP55 homolog
retinoic acid-induced protein 70
src family-associated phosphoprotein 2
src kinase-associated phosphoprotein of 55-related protein
src-associated adapter protein with PH and SH3 domains

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.

mRNA and Protein(s)

  1. NM_001303468.1NP_001290397.1  src kinase-associated phosphoprotein 2 isoform 2

    See identical proteins and their annotated locations for NP_001290397.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate 5' terminal exon and uses a downstream start codon compared to variant 1. It encodes isoform 2 which has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AK299317, BC002893, BC036044, BQ433993, CA423048, DA714447, DA738803
    UniProtKB/Swiss-Prot
    O75563
    UniProtKB/TrEMBL
    B7Z5R3
    Conserved Domains (3) summary
    pfam00169
    Location:746
    PH; PH domain
    cl17036
    Location:129181
    SH3; Src Homology 3 domain superfamily
    cl17171
    Location:149
    PH-like; Pleckstrin homology-like domain
  2. NM_003930.5NP_003921.2  src kinase-associated phosphoprotein 2 isoform 1

    See identical proteins and their annotated locations for NP_003921.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK313209, BC002893, BC036044, BQ433993, HY044523
    Consensus CDS
    CCDS5400.1
    UniProtKB/Swiss-Prot
    O75563
    Related
    ENSP00000005587.2, ENST00000345317.6
    Conserved Domains (3) summary
    cd12045
    Location:301353
    SH3_SKAP2; Src Homology 3 domain of Src Kinase-Associated Phosphoprotein 2
    cd13381
    Location:117221
    PH_Skap-hom_Skap2; Src kinase-associated phosphoprotein homolog and Skap 2 Pleckstrin homology (PH) domain
    pfam00169
    Location:117218
    PH; PH domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    26654772..26864743 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017012771.2XP_016868260.1  src kinase-associated phosphoprotein 2 isoform X1

    UniProtKB/Swiss-Prot
    O75563
    Conserved Domains (3) summary
    cd12045
    Location:301353
    SH3_SKAP2; Src Homology 3 domain of Src Kinase-Associated Phosphoprotein 2
    cd13381
    Location:117221
    PH_Skap-hom_Skap2; Src kinase-associated phosphoprotein homolog and Skap 2 Pleckstrin homology (PH) domain
    pfam00169
    Location:117218
    PH; PH domain
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