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

Summary

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

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_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: An integrative method for scoring candidate genes from association studies: application to warfarin dosing.
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.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D20S1010 (e-PCR)
- UniSTS:47881

RH65678 (e-PCR)
- UniSTS:54824

AL031472 (e-PCR)
- UniSTS:66860

WI-19258 (e-PCR)
- UniSTS:75642

D13S1553 (e-PCR)
- UniSTS:473482

HUM000AA21 (e-PCR)
- UniSTS:81340

Z94699 (e-PCR)
- UniSTS:44275

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

NG_031823.2 RefSeqGene

Range

5021..38899

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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