CARD19

protein-coding

caspase recruitment domain family member 19, the group of Caspase recruitment domain containing

Gene summary

Predicted to enable CARD domain binding activity. Predicted to be involved in negative regulation of canonical NF-kappaB signal transduction. Predicted to act upstream of or within obsolete positive regulation of NF-kappaB transcription factor activity; positive regulation of canonical NF-kappaB signal transduction; and protein catabolic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C9orf89

MANE transcript

NM_032310.5

Inheritance

—

ClinVar variants

U:41B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.81

Max pathogenic AF

—

Genomic locus

chr9:93,096,217-93,113,283

External References & Databases

Ensembl (ENSG00000165233)

Transcript & Mutation Effects

hg38 • Region Span ~17.1 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 CARD19 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 35

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_032310.5. 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			2 clinvar	1 clinvar		3
missense			37 clinvar			37
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	41	1	0	42

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 25 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_032310.5	RefSeq	NP_115686.3	6	MANE Select
ENST00000375464.7	Ensembl	ENSP00000364613.2	6	MANE Select
NM_001318010.2	RefSeq	NP_001304939.1	4	Standard
NM_001318011.2	RefSeq	NP_001304940.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

negative regulation of I-kappaB kinase/NF-kappaB signaling

Molecular Function

CARD domain binding

Cellular Component

nucleus
mitochondrion
endoplasmic reticulum membrane
cytosol
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000375464
Coding exons: 6
Length: 17066
Individuals with no LoFs: 125681
Homozygous LoFs: 0
Heterozygous LoFs: 58
Defined: 125739
p: 0.000231

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.0482	119	120	0.988	0.00000823	1163
Missense (PolyPhen)		42	44.401	0.94592		434
Synonymous	-0.0288	49	48.7	1.01	0.00000291	379
Loss of Function	0.585	9	11.1	0.810	7.41e-7	108

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0.0021	0.0021	notable
Finnish	0.00016	0.00014	rare
European (Non-Finnish)	0.00013	0.00012	rare
South Asian	0.000033	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Plays a role in inhibiting the effects of BCL10-induced activation of NF-kappa-B. May inhibit the phosphorylation of BCL10 in a CARD-dependent manner. {ECO:0000269|PubMed:15637807}.;

Intolerance Scores

RVIS EVS: -0.25
RVIS percentile EVS: 35.75

Essentials

Essential (gene trap): N