CARD17P

pseudo

caspase recruitment domain family member 17, pseudogene

Gene summary

Enables caspase binding activity and identical protein binding activity. Involved in cellular response to lipopolysaccharide and negative regulation of interleukin-1 beta production. Part of protein-containing complex. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

CARD17

MANE transcript

N/A

Inheritance

—

ClinVar variants

B:1

Top phenotype

Inborn genetic diseases

gnomAD constraint

pLI —, LoF o/e 1.09

Max pathogenic AF

—

Genomic locus

chr11:105,092,486-105,101,414

External References & Databases

Ensembl (ENSG00000255221)

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 CARD17P variants in ClinVar

2 Conditions Cataloged

Inborn genetic diseasesTotal: 7

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . 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						0
missense						0
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)					1 clinvar	1
Total	0	0	0	0	1	1

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 0 of 0 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
No transcripts match your selected source or search query.

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

NOD-like receptor signaling pathway - Homo sapiens (human)

Biological Process

proteolysis
negative regulation of endopeptidase activity
regulation of apoptotic process
negative regulation of interleukin-1 beta secretion
cellular response to lipopolysaccharide

Molecular Function

cysteine-type endopeptidase activity
cysteine-type endopeptidase inhibitor activity
protein binding
identical protein binding
caspase binding

Cellular Component

cytoplasm
protein-containing complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000375707
Coding exons: 3
Length: 8963
Individuals with no LoFs: 124184
Homozygous LoFs: 54
Heterozygous LoFs: 1483
Defined: 125721
p: 0.00613

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-1.73	98	60.3	1.63	0.00000310	693
Missense (PolyPhen)		19	13.277	1.4311		195
Synonymous	-1.97	34	22.2	1.53	0.00000112	223
Loss of Function	-0.196	6	5.50	1.09	3.17e-7	64

Population LoF Frequency

Population	CAF	p-value	Status
African	0.085	0.086	notable
Latino/Admixed American	0.0043	0.0043	notable
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000054	0.000054	rare
Finnish	0.000047	0.000046	rare
European (Non-Finnish)	0.00030	0.00030	rare
South Asian	0.00020	0.00020	rare
Other	0.0025	0.0024	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Regulator of procaspase-1/CASP1 activation implicated in the regulation of the proteolytic maturation of pro-IL-1beta/IL1B and its release during inflammation. Inhibits the release of IL1B in response to LPS in monocytes. However, unlike CASP1, do not induce NF-kappa-B activation. {ECO:0000269|PubMed:15383541}.;

Recessive Scores

pRec: 0.0917

Intolerance Scores

LoFtool: 0.712
RVIS EVS: 1.24
RVIS percentile EVS: 93.29

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