CD177

CD177 molecule, the group of CD molecules|LY6/PLAUR domain containing

Basic information

Region (hg38): 19:43353686-43363172

Links

ENSG00000204936

∙ NCBI:57126 ∙ OMIM:162860 ∙ HGNC:30072 ∙ Uniprot:Q8N6Q3 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CD177 gene.

not_specified (75 variants)
not_provided (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CD177 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000020406.4. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				2 clinvar		2
missense			68 clinvar	8 clinvar	3 clinvar	79
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)				1 clinvar		1
Total	0	0	68	11	3

Loading clinvar variants...

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function: FUNCTION: In association with beta-2 integrin heterodimer ITGAM/CD11b and ITGB2/CD18, mediates activation of TNF-alpha primed neutrophils including degranulation and superoxide production (PubMed:21193407). In addition, by preventing beta-2 integrin internalization and attenuating chemokine signaling favors adhesion over migration (PubMed:28807980). Heterophilic interaction with PECAM1 on endothelial cells plays a role in neutrophil transendothelial migration in vitro (PubMed:17580308). However, appears to be dispensable for neutrophil recruitment caused by bacterial infection in vivo (PubMed:23461681). Acts as a receptor for the mature form of protease PRTN3 allowing its display at the cell surface of neutrophils (PubMed:17244676, PubMed:18462208). By displaying PRTN3 at the neutrophil cell surface, may play a role in enhancing endothelial cell junctional integrity and thus vascular integrity during neutrophil diapedesis (PubMed:23202369). {ECO:0000269|PubMed:17244676, ECO:0000269|PubMed:17580308, ECO:0000269|PubMed:18462208, ECO:0000269|PubMed:21193407, ECO:0000269|PubMed:23202369, ECO:0000269|PubMed:23461681, ECO:0000269|PubMed:28807980}.;
Pathway: Neutrophil degranulation;Innate Immune System;Immune System;Cell surface interactions at the vascular wall;Hemostasis;Common Pathway of Fibrin Clot Formation;Formation of Fibrin Clot (Clotting Cascade) (Consensus)

Haploinsufficiency Scores

pHI: 0.0498
hipred
hipred_score
ghis

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.177

Mouse Genome Informatics

Gene name: Cd177
Phenotype: immune system phenotype; hematopoietic system phenotype;

Gene ontology

Biological process: cell adhesion;leukocyte cell-cell adhesion;blood coagulation;regulation of endocytosis;positive regulation of superoxide anion generation;protein localization to cell surface;neutrophil degranulation;positive regulation of neutrophil degranulation;innate immune response;cell-cell junction maintenance;leukocyte migration;neutrophil extravasation;cell-cell adhesion via plasma-membrane adhesion molecules;neutrophil migration;regulation of integrin-mediated signaling pathway
Cellular component: plasma membrane;lamellipodium;secretory granule membrane;anchored component of membrane;specific granule membrane;plasma membrane raft;extracellular exosome;tertiary granule membrane
Molecular function: protease binding;integrin binding;protein binding;calcium-dependent protein binding