SIRPG

signal regulatory protein gamma, the group of V-set domain containing|CD molecules|Ig-like cell adhesion molecule family|C1-set domain containing|Signal regulatory proteins

Basic information

Region (hg38): 20:1629152-1657779

Previous symbols: [ "SIRPB2" ]

Links

ENSG00000089012 ∙ NCBI:55423 ∙ OMIM:605466 ∙ HGNC:15757 ∙ Uniprot:Q9P1W8 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• male infertility with azoospermia or oligozoospermia due to single gene mutation (Limited), mode of inheritance: AR

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SIRPG gene.

• not_specified (59 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SIRPG gene is commonly pathogenic or not. These statistics are base on transcript: NM_000018556.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1	1	2
missense			51	8		59
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	51	9	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SIRPG	protein_coding	protein_coding	ENST00000303415	5	28628

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.48e-15	0.00295	125407	1	340	125748	0.00136

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.272	229	218	1.05	0.0000122	2478
Missense in Polyphen		45	44.053	1.0215		617
Synonymous	-0.877	100	89.5	1.12	0.00000536	809
Loss of Function	-0.849	20	16.3	1.23	8.55e-7	171

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00369	0.00363
Ashkenazi Jewish	0.00139	0.00139
East Asian	0.000163	0.000163
Finnish	0.000601	0.000601
European (Non-Finnish)	0.00180	0.00179
Middle Eastern	0.000163	0.000163
South Asian	0.0000653	0.0000653
Other	0.00179	0.00179

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probable immunoglobulin-like cell surface receptor. On binding with CD47, mediates cell-cell adhesion. Engagement on T- cells by CD47 on antigen-presenting cells results in enhanced antigen-specific T-cell proliferation and costimulates T-cell activation. {ECO:0000269|PubMed:15383453}.
• Pathway: Osteoclast differentiation - Homo sapiens (human);Cell surface interactions at the vascular wall;Hemostasis;Signal regulatory protein family interactions;Cell-Cell communication (Consensus)

Recessive Scores

• pRec: 0.0864

Intolerance Scores

• loftool: 0.925
• rvis_EVS: 0.8
• rvis_percentile_EVS: 87.66

Haploinsufficiency Scores

• pHI: 0.0760
• hipred: N
• hipred_score: 0.133
• ghis: 0.429

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.108

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Gene ontology

• Biological process: cell adhesion;cell-cell signaling;positive regulation of cell population proliferation;negative regulation of cell population proliferation;positive regulation of cell-cell adhesion;intracellular signal transduction;positive regulation of phagocytosis;positive regulation of T cell activation;leukocyte migration
• Cellular component: plasma membrane;membrane;integral component of membrane
• Molecular function: protein binding