PROCR

protein C receptor, the group of CD molecules

Basic information

Region (hg38): 20:35172071-35216240

Links

ENSG00000101000 ∙ NCBI:10544 ∙ OMIM:600646 ∙ HGNC:9452 ∙ Uniprot:Q9UNN8 ∙ 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 PROCR gene.

• Inborn genetic diseases (8 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PROCR gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			7	1	1	9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	7	2	1

Variants in PROCR

This is a list of pathogenic ClinVar variants found in the PROCR region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
20-35174795-C-T		not specified	Uncertain significance (Jul 26, 2022)
20-35174893-T-C			Benign (Jul 06, 2018)
20-35174914-G-T		not specified	Uncertain significance (Jul 12, 2022)
20-35174942-G-C		not specified	Uncertain significance (Dec 21, 2022)
20-35176228-A-T		not specified	Uncertain significance (Jan 10, 2023)
20-35176238-C-T			Benign/Likely benign (Feb 01, 2023)
20-35176362-C-G		not specified	Uncertain significance (Nov 30, 2021)
20-35176381-G-A		not specified	Likely benign (Oct 06, 2022)
20-35176399-C-A		not specified	Uncertain significance (Apr 05, 2023)
20-35176725-C-T		not specified	Uncertain significance (Oct 29, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PROCR	protein_coding	protein_coding	ENST00000216968	4	5290

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00563	0.908	125698	0	50	125748	0.000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.537	126	144	0.874	0.00000983	1508
Missense in Polyphen		43	46.226	0.93022		477
Synonymous	0.606	62	68.4	0.907	0.00000476	516
Loss of Function	1.47	5	10.0	0.500	4.37e-7	110

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000427	0.000427
Ashkenazi Jewish	0.00	0.00
East Asian	0.00110	0.00109
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.0000704	0.0000703
Middle Eastern	0.00110	0.00109
South Asian	0.000360	0.000359
Other	0.000167	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Binds activated protein C. Enhances protein C activation by the thrombin-thrombomodulin complex; plays a role in the protein C pathway controlling blood coagulation.
• Pathway: Complement and coagulation cascades - Homo sapiens (human);Cell surface interactions at the vascular wall;Hemostasis;transcriptional activation of dbpb from mrna;Common Pathway of Fibrin Clot Formation;Formation of Fibrin Clot (Clotting Cascade) (Consensus)

Recessive Scores

• pRec: 0.176

Intolerance Scores

• loftool: 0.394
• rvis_EVS: -0.05
• rvis_percentile_EVS: 50.01

Haploinsufficiency Scores

• pHI: 0.0525
• hipred: N
• hipred_score: 0.222
• ghis: 0.482

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.731

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Procr
• Phenotype: growth/size/body region phenotype; homeostasis/metabolism phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); normal phenotype; embryo phenotype; immune system phenotype

Gene ontology

• Biological process: blood coagulation;negative regulation of coagulation
• Cellular component: extracellular region;centrosome;plasma membrane;integral component of plasma membrane;focal adhesion;cell surface;perinuclear region of cytoplasm;extracellular exosome
• Molecular function: protein binding;signaling receptor activity