NLRP14

protein-coding

NLR family pyrin domain containing 14, the group of NLR family|Pyrin domain containing

Gene summary

The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). This protein may play a regulatory role in the innate immune system as similar family members belong to the signal-induced multiprotein complex, the inflammasome, that activates the pro-inflammatory caspases, caspase-1 and caspase-5. [provided by RefSeq, Jul 2008]

Previous symbols:

NALP14

MANE transcript

NM_176822.4

Inheritance

—

ClinVar variants

U:177B:29

Top phenotype

NLRP14-related disorder

gnomAD constraint

pLI —, LoF o/e 1.2

Max pathogenic AF

—

Genomic locus

chr11:7,020,479-7,071,526

External References & Databases

Ensembl (ENSG00000158077)

Transcript & Mutation Effects

hg38 • Region Span ~51.0 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 NLRP14 variants in ClinVar

4 Conditions Cataloged

not specifiedTotal: 177

not providedTotal: 19

NLRP14-related disorderTotal: 18

Spermatogenic FailureTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_176822.4. 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			2 clinvar	4 clinvar	4 clinvar	10
missense			172 clinvar	13 clinvar	7 clinvar	192
nonsense			1 clinvar		1 clinvar	2
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	177	17	12	206

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 6 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_176822.4	RefSeq	NP_789792.1	11	MANE Select
ENST00000299481.5	Ensembl	ENSP00000299481.5	11	MANE Select
ENST00000892206.1	Ensembl	ENSP00000562265.1	10	Standard
ENST00001140835.1	Ensembl	ENSP00000805335.1	11	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

multicellular organism development
spermatogenesis
cell differentiation

Molecular Function

ATP binding

Cellular Component

cytoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000299481
Coding exons: 11
Length: 50863
Individuals with no LoFs: 125096
Homozygous LoFs: 3
Heterozygous LoFs: 648
Defined: 125747
p: 0.00259

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.949	588	527	1.12	0.0000253	7235
Missense (PolyPhen)		137	141.69	0.96693		2145
Synonymous	-2.13	243	204	1.19	0.0000102	1997
Loss of Function	-1.19	49	40.8	1.20	0.00000191	587

Population LoF Frequency

Population	CAF	p-value	Status
African	0.012	0.011	notable
Latino/Admixed American	0.0013	0.0013	notable
Ashkenazi Jewish	0.00020	0.00020	rare
East Asian	0.00011	0.00011	rare
Finnish	0.0039	0.0038	notable
European (Non-Finnish)	0.0025	0.0025	notable
South Asian	0.0014	0.0014	notable
Other	0.0023	0.0023	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May be involved in inflammation and spermatogenesis.;

Recessive Scores

pRec: 0.139

Intolerance Scores

LoFtool: 0.376
RVIS EVS: 1.79
RVIS percentile EVS: 96.88

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.191

Gene Damage Prediction

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