CPQ

protein-coding

carboxypeptidase Q, the group of M14 carboxypeptidases

Gene summary

This gene encodes a metallopeptidase that belongs to the peptidase M28 family. The encoded protein may catalyze the cleavage of dipeptides with unsubstituted terminals into amino acids. [provided by RefSeq, Jul 2013]

MANE transcript

NM_016134.4

Inheritance

—

ClinVar variants

U:76B:9

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.03

Max pathogenic AF

—

Genomic locus

chr8:96,645,242-97,149,654

External References & Databases

Ensembl (ENSG00000104324)

Transcript & Mutation Effects

hg38 • Region Span ~504.4 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to CPQ variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 65

not providedTotal: 10

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_016134.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			3 clinvar		2 clinvar	5
missense			68 clinvar	2 clinvar	4 clinvar	74
nonsense						0
start loss						0
frameshift				1 clinvar		1
splice donor/acceptor (+/-2bp)			5 clinvar			5
Total	0	0	76	3	6	85

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 45 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_016134.4	RefSeq	NP_057218.1	7	MANE Select
ENST00000220763.10	Ensembl	ENSP00000220763.5	7	MANE Select
ENST00000517742.1	Ensembl	ENSP00000429146.1	2	Standard
ENST00000519484.1	Ensembl	ENSP00000431114.1	1	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

proteolysis
thyroid hormone generation
tissue regeneration
peptide catabolic process

Molecular Function

carboxypeptidase activity
protein homodimerization activity
metal ion binding
metallodipeptidase activity

Cellular Component

extracellular space
cytoplasm
lysosome
endoplasmic reticulum
Golgi apparatus

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000220763
Coding exons: 7
Length: 504428
Individuals with no LoFs: 125538
Homozygous LoFs: 0
Heterozygous LoFs: 210
Defined: 125748
p: 0.000835

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.700	221	252	0.876	0.0000122	3064
Missense (PolyPhen)		53	72.164	0.73444		838
Synonymous	0.202	92	94.5	0.974	0.00000496	943
Loss of Function	-0.118	21	20.4	1.03	0.00000109	237

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00081	0.00080	rare
Latino/Admixed American	0.0011	0.0011	notable
Ashkenazi Jewish	0	0.0	absent
East Asian	0.0054	0.0054	notable
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.00045	0.00043	rare
South Asian	0.00026	0.00026	rare
Other	0.00051	0.00049	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Carboxypeptidase that may play an important role in the hydrolysis of circulating peptides. Catalyzes the hydrolysis of dipeptides with unsubstituted terminals into amino acids. May play a role in the liberation of thyroxine hormone from its thyroglobulin (Tg) precursor.;

Intolerance Scores

RVIS EVS: 0.87
RVIS percentile EVS: 88.8

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

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