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SLA2 Src like adaptor 2 [ Homo sapiens (human) ]

Gene ID: 84174, updated on 27-Nov-2024

Summary

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Official Symbol
SLA2provided by HGNC
Official Full Name
Src like adaptor 2provided by HGNC
Primary source
HGNC:HGNC:17329
See related
Ensembl:ENSG00000101082 MIM:606577; AllianceGenome:HGNC:17329
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
MARS; SLAP2; SLAP-2; C20orf156
Summary
This gene encodes a member of the SLAP family of adapter proteins. The encoded protein may play an important receptor-proximal role in downregulating T and B cell-mediated responses and inhibits antigen receptor-induced calcium mobilization. This protein interacts with Cas-Br-M (murine) ecotropic retroviral transforming sequence c. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Expression
Broad expression in lymph node (RPKM 4.0), bone marrow (RPKM 3.6) and 17 other tissues See more
Orthologs
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Genomic context

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See SLA2 in Genome Data Viewer
Location:
20q11.23
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (36612318..36646196, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (38336183..38370537, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (35240721..35274599, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene DLGAP4 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12872 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35170723-35171376 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35171377-35172030 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35172031-35172684 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35172685-35173338 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:35175959-35176887 Neighboring gene NANOG hESC enhancer GRCh37_chr20:35191013-35191578 Neighboring gene myosin light chain 9 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr20:35199946-35200498 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17809 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12873 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12874 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12875 Neighboring gene TGIF2-RAB5IF readthrough Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35213881-35214870 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35217734-35218362 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35219932-35220810 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17810 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17811 Neighboring gene TGFB induced factor homeobox 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17812 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:35233097-35233496 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17813 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12876 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr20:35235327-35236526 Neighboring gene RAB5 interacting factor Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17814 Neighboring gene heterogeneous nuclear ribonucleoprotein A3 pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:35261429-35261930 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:35271232-35271902 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:35305009-35305810 Neighboring gene NDRG family member 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:35324917-35325417 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35373956-35374922 Neighboring gene MPRA-validated peak4204 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:35393973-35394472 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:35399249-35399414 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:35401925-35402470 Neighboring gene DSN1 component of MIS12 kinetochore complex

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. Crystal structure of Src-like adaptor protein 2 reveals close association of SH3 and SH2 domains through β-sheet formation. Wybenga-Groot LE, et al. Cell Signal, 2013 Dec. PMID 24018043
  2. A potential role for the Src-like adapter protein SLAP-2 in signaling by the colony stimulating factor-1 receptor. Manes GA, et al. FEBS J, 2006 Apr. PMID 16623714
  3. Roles of Src-like adaptor protein 2 (SLAP-2) in GPVI-mediated platelet activation SLAP-2 and GPVI signaling. Sugihara S, et al. Thromb Res, 2010 Oct. PMID 20828795
  4. The Emerging and Diverse Roles of Src-Like Adaptor Proteins in Health and Disease. Marton N, et al. Mediators Inflamm, 2015. PMID 26339145, Free PMC Article
  5. Cloning and characterization of human Src-like adaptor protein 2 and a novel splice isoform, SLAP-2-v. Loreto MP, et al. Oncogene, 2003 Jan 16. PMID 12527895

See all (27) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. SLAP2 Adaptor Binding Disrupts c-CBL Autoinhibition to Activate Ubiquitin Ligase Function.
    Title: SLAP2 Adaptor Binding Disrupts c-CBL Autoinhibition to Activate Ubiquitin Ligase Function.
  2. SLAP2 SH3 and SH2 domains are separated by a short SH3-SH2 connector sequence.
    Title: Crystal structure of Src-like adaptor protein 2 reveals close association of SH3 and SH2 domains through β-sheet formation.
  3. In platelets, SLAP-2 may have function as a negative regulator of GPVI-mediated signaling by interacting with c-Cbl.
    Title: Roles of Src-like adaptor protein 2 (SLAP-2) in GPVI-mediated platelet activation SLAP-2 and GPVI signaling.
  4. Observational study of gene-disease association. (HuGE Navigator)
    Title: An integrative method for scoring candidate genes from association studies: application to warfarin dosing.
  5. negatively regulates T cell receptor signaling
    Title: A novel Src homology 2 domain-containing molecule, Src-like adapter protein-2 (SLAP-2), which negatively regulates T cell receptor signaling.
  6. The human SLAP-2 gene is located on chromosome 20q, and the SLAP-2 coding region consists of seven exons, a unique cDNA encoding an alternatively spliced SLAP-2 isoform has been identified
    Title: Cloning and characterization of human Src-like adaptor protein 2 and a novel splice isoform, SLAP-2-v.
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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ21992, MGC49845

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables signaling adaptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables signaling adaptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in B cell mediated immunity TAS
Traceable Author Statement
more info
 PubMed 
acts_upstream_of T cell activation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in antigen receptor-mediated signaling pathway TAS
Traceable Author Statement
more info
 PubMed 
involved_in negative regulation of T cell receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of calcium-mediated signaling IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of immune response NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
  
located_in cytoplasm TAS
Traceable Author Statement
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in endosome membrane NAS
Non-traceable Author Statement
more info
 PubMed 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
located_in late endosome IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
src-like-adapter 2
Names
Src-like adapter protein-2
modulator of antigen receptor signaling

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.

Genomic

  1. NG_031823.2 RefSeqGene

    Range
    5021..38899
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_032214.4 → NP_115590.1  src-like-adapter 2 isoform a

    See identical proteins and their annotated locations for NP_115590.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AL050318, BC042041, BF510664, DA983348
    Consensus CDS
    CCDS13282.1
    UniProtKB/Swiss-Prot
    A8K648, E1P5U1, E1P5U2, Q5TH27, Q5TH28, Q8WY18, Q96QI4, Q9H135, Q9H6Q3
    Related
    ENSP00000262866.4, ENST00000262866.9
    Conserved Domains (2) summary
    cd10344
    Location:83 → 186
    SH2_SLAP; Src homology 2 domain found in Src-like adaptor proteins
    cd12011
    Location:36 → 90
    SH3_SLAP2; Src homology 3 domain of Src-Like Adaptor Protein 2

  2. NM_175077.3 → NP_778252.1  src-like-adapter 2 isoform b

    See identical proteins and their annotated locations for NP_778252.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2, also known as SLAP-2-v) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (b) is shorter and has a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AF290986, AL050318, BC042041, BF510664, BQ052468, DA983348
    Consensus CDS
    CCDS13283.1
    UniProtKB/Swiss-Prot
    Q9H6Q3
    Related
    ENSP00000353890.2, ENST00000360672.2
    Conserved Domains (2) summary
    cd12011
    Location:36 → 90
    SH3_SLAP2; Src homology 3 domain of Src-Like Adaptor Protein 2
    cl15255
    Location:83 → 178
    SH2; Src homology 2 (SH2) domain

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_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    36612318..36646196 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    38336183..38370537 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H6Q3.3 GenPept UniProtKB/Swiss-Prot:Q9H6Q3

Gene LinkOut

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