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

    Gene ID: 55423, updated on 2-Nov-2024

    Summary

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    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

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    See SIRPG in Genome Data Viewer
    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_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985409 Neighboring gene signal regulatory protein beta 1 Neighboring gene TVP23B pseudogene 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:1615736-1616561 Neighboring gene SIRPG antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17458 Neighboring gene NANOG hESC enhancer GRCh37_chr20:1653981-1654482 Neighboring gene RNA, 7SL, cytoplasmic 561, pseudogene Neighboring gene signal regulatory protein beta 3, pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:1702530-1703102 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:1703103-1703673 Neighboring gene uncharacterized LOC124904858

    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 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. Genetic Control of Splicing at SIRPG Modulates Risk of Type 1 Diabetes. Smith MJ, et al. Diabetes, 2022 Feb 1. PMID 34799406, Free PMC Article
    2. 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. Sinha S, et al. PLoS One, 2020. PMID 32853219, Free PMC Article
    3. Molecular cloning of a novel human gene (SIRP-B2) which encodes a new member of the SIRP/SHPS-1 protein family. Ichigotani Y, et al. J Hum Genet, 2000. PMID 11185750
    4. An autoimmune disease risk SNP, rs2281808, in SIRPG is associated with reduced expression of SIRPγ and heightened effector state in human CD8 T-cells. Sinha S, et al. Sci Rep, 2018 Oct 18. PMID 30337675, Free PMC Article
    5. Human lymphocytes interact directly with CD47 through a novel member of the signal regulatory protein (SIRP) family. Brooke G, et al. J Immunol, 2004 Aug 15. PMID 15294972

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    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

    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

    Variation

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    See Variation Viewer (GRCh37.p13)

    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

    • FLJ42230

    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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    NEW Try the new Transcript table

    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_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

    2. 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)

    3. 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

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      1629152..1686455 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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

    2. 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

    3. 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

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      1645286..1702598 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

    2. XM_054323625.1 → XP_054179600.1  signal-regulatory protein gamma isoform X1

    3. XM_054323626.1 → XP_054179601.1  signal-regulatory protein gamma isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P1W8.3 GenPept UniProtKB/Swiss-Prot:Q9P1W8

    Gene LinkOut

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

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