SIRPG signal regulatory protein gamma [Homo sapiens (human)] - Gene

Summary

Official Symbol: SIRPGprovided by HGNC
Official Full Name: signal regulatory protein gammaprovided by HGNC
Primary source: HGNC:HGNC:15757
See related: Ensembl:ENSG00000089012 MIM:605466; AllianceGenome:HGNC:15757
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: CD172g; SIRPB2; SIRP-B2; bA77C3.1; SIRPgamma
Summary: The protein encoded by this gene is a member of the signal-regulatory protein (SIRP) family, and also belongs to the immunoglobulin superfamily. SIRP family members are receptor-type transmembrane glycoproteins known to be involved in the negative regulation of receptor tyrosine kinase-coupled signaling processes. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Expression: Biased expression in lymph node (RPKM 13.6), appendix (RPKM 6.0) and 8 other tissues See more
Orthologs: all
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Genomic context

Location:: 20p13

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (1629152..1686455, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (1645286..1702598, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (1609798..1638425, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Genetic Control of Splicing at SIRPG Modulates Risk of Type 1 Diabetes.
Title: Genetic Control of Splicing at SIRPG Modulates Risk of Type 1 Diabetes.
Altered expression of SIRPgamma on the T-cells of relapsing remitting multiple sclerosis and type 1 diabetes patients could potentiate effector responses from T-cells.
Title: Altered expression of SIRPγ on the T-cells of relapsing remitting multiple sclerosis and type 1 diabetes patients could potentiate effector responses from T-cells.
The SNP rs2281808 TT variant reduced SIRPgamma expression on T-cells. SIRPgamma(low) CD8 T-cells in CT and TT individuals were in a heightened effector state with lower activation threshold and had greater gene expression of molecules associated with migratory and cytotoxic potential. SIRPgamma(low) CD8 T-cells were deficient in transcription factors associated with long-term functional memory formation.
Title: An autoimmune disease risk SNP, rs2281808, in SIRPG is associated with reduced expression of SIRPγ and heightened effector state in human CD8 T-cells.
SIRPgamma in complex with FabOX117 forms a dimer in the crystal. Binding to the Fab fixes the position of domain 1 relative to domains 2/3 exposing a surface which favours formation of a homotypic dimer.
Title: Crystal structure of signal regulatory protein gamma (SIRPγ) in complex with an antibody Fab fragment.
The independent non-obstructive azoospermia risk alleles are driven by variants in the protein-coding sequence of the two genes, SIRPA and SIRPG.
Title: Pathogenic variants screening in five non-obstructive azoospermia-associated genes.
tumor necrosis factor receptor superfamily, member 14 (TNFRSF14) and signal regulatory protein, gamma (SIRPG) appear to contribute to gender difference in incidence of systemic lupus erythematosus.
Title: Changes in the gene expression of peripheral blood mononuclear cells during the menstrual cycle of females is associated with a gender bias in the incidence of systemic lupus erythematosus.
CD47 is enriched at endothelial junctions, and its interaction with SIRPgamma is required for human T-cell transendothelial migration
Title: Endothelial CD47 interaction with SIRPgamma is required for human T-cell transendothelial migration under shear flow conditions in vitro.
a novel member of the signal regulatory protein (SIRP) family- with unique characteristics from both alpha and beta genes- termed SIRPgamma
Title: Human lymphocytes interact directly with CD47 through a novel member of the signal regulatory protein (SIRP) family.

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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

EBI GWAS Catalog

Description
Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

SHGC-56794 (e-PCR)
- UniSTS:53846

RH94120 (e-PCR)
- UniSTS:87507

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in cell-cell signaling	TAS Traceable Author Statement more info	PubMed
involved_in intracellular signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of cell population proliferation	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of T cell activation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of T cell activation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell-cell adhesion	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of phagocytosis	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: signal-regulatory protein gamma

Names: CD172 antigen-like family member B; CD172g antigen; SIRP beta 2; SIRP-gamma; signal-regulatory protein beta-2

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.

mRNA and Protein(s)

NM_001039508.2 → NP_001034597.1 signal-regulatory protein gamma isoform 3 precursor

See identical proteins and their annotated locations for NP_001034597.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an internal segment within the coding region but maintains the reading frame, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.

Source sequence(s)

AA446468, AY748247, BC064532, DA008008, DB046293

Consensus CDS

CCDS33434.1

UniProtKB/Swiss-Prot

Q9P1W8

Related

ENSP00000370995.2, ENST00000381583.6

Conserved Domains (3) summary

cd00099
Location:41 → 138

IgV; Immunoglobulin variable domain (IgV)

smart00410
Location:41 → 120

IG_like; Immunoglobulin like

cl11960
Location:144 → 251

Ig; Immunoglobulin domain
NM_018556.4 → NP_061026.2 signal-regulatory protein gamma isoform 1 precursor

See identical proteins and their annotated locations for NP_061026.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AA446468, AY748247, BC064532, DA008008, DB046293

Consensus CDS

CCDS13020.2

UniProtKB/Swiss-Prot

B1AKP6, Q5D051, Q5JV25, Q5MKL4, Q8WWA5, Q9NQK8, Q9P1W8

UniProtKB/TrEMBL

A8K9N0

Related

ENSP00000305529.3, ENST00000303415.7

Conserved Domains (3) summary

cd05772
Location:145 → 248

IgC_SIRP_domain_2; Signal-regulatory protein (SIRP) immunoglobulin-like domain 2

cd16085
Location:250 → 353

IgC_SIRP_domain_3; Signal-regulatory protein (SIRP) immunoglobulin-like domain 3

cd16097
Location:33 → 143

IgV_SIRP; Immunoglobulin (Ig)-like domain of Signal-Regulatory Protein (SIRP)
NM_080816.3 → NP_543006.2 signal-regulatory protein gamma isoform 2 precursor

See identical proteins and their annotated locations for NP_543006.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks two internal segments within the coding region but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AA446468, AY748247, BC020629, BC064532, DA008008, DB046293

Consensus CDS

CCDS13021.2

UniProtKB/Swiss-Prot

Q9P1W8

Related

ENSP00000342759.4, ENST00000344103.8

Conserved Domains (2) summary

smart00410
Location:41 → 120

IG_like; Immunoglobulin like

pfam07686
Location:36 → 133

V-set; Immunoglobulin V-set 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

NC_000020.11 Reference GRCh38.p14 Primary Assembly

Range

1629152..1686455 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011529286.3 → XP_011527588.1 signal-regulatory protein gamma isoform X3

UniProtKB/TrEMBL

A8K9N0

Related

ENSP00000370992.1, ENST00000381580.5

Conserved Domains (4) summary

cd00098
Location:231 → 302

IgC; Immunoglobulin Constant domain

cd00099
Location:8 → 105

IgV; Immunoglobulin variable domain (IgV)

smart00410
Location:8 → 87

IG_like; Immunoglobulin like

cl11960
Location:111 → 219

Ig; Immunoglobulin domain
XM_005260749.5 → XP_005260806.1 signal-regulatory protein gamma isoform X1

Conserved Domains (3) summary

cd00098
Location:158 → 229

IgC; Immunoglobulin Constant domain

cd00099
Location:41 → 138

IgV; Immunoglobulin variable domain (IgV)

smart00410
Location:41 → 120

IG_like; Immunoglobulin like
XM_011529287.3 → XP_011527589.1 signal-regulatory protein gamma isoform X2

Conserved Domains (3) summary

smart00410
Location:41 → 120

IG_like; Immunoglobulin like

pfam07686
Location:36 → 133

V-set; Immunoglobulin V-set domain

cl11960
Location:144 → 249

Ig; Immunoglobulin domain

Alternate T2T-CHM13v2.0

Genomic

NC_060944.1 Alternate T2T-CHM13v2.0

Range

1645286..1702598 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054323627.1 → XP_054179602.1 signal-regulatory protein gamma isoform X3

UniProtKB/TrEMBL

A8K9N0
XM_054323625.1 → XP_054179600.1 signal-regulatory protein gamma isoform X1
XM_054323626.1 → XP_054179601.1 signal-regulatory protein gamma isoform X2