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

    Gene ID: 84174, updated on 17-Jun-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
    mouse all
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (36612318..36646196, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (38336183..38370537, complement)
    105.20220307 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. 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
    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. 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
    5. Sleuthing biochemical evidence to elucidate unassigned electron density in a CBL-SLAP2 crystal complex. Wybenga-Groot LE, et al. Acta Crystallogr F Struct Biol Commun, 2021 Feb 1. PMID 33620036, Free PMC Article

    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)

    Genotypes

    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 1-phosphatidylinositol-3-kinase regulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 phosphatidylinositol phosphate biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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
    		  
    part_of phosphatidylinositol 3-kinase complex IBA
    Inferred from Biological aspect of Ancestor
    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_2023_10

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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