KRT24

protein-coding

keratin 24, the group of Keratins, type I

Gene summary

This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jun 2009]

MANE transcript

NM_019016.3

Inheritance

—

ClinVar variants

U:75B:13

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.03

Max pathogenic AF

—

Genomic locus

chr17:40,697,991-40,703,752

External References & Databases

Ensembl (ENSG00000167916)

Transcript & Mutation Effects

hg38 • Region Span ~5.8 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 KRT24 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 81

not providedTotal: 8

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_019016.3. 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	3 clinvar	6
missense			75 clinvar	5 clinvar	2 clinvar	82
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	75	8	5	88

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 3 of 3 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_019016.3	RefSeq	NP_061889.2	8	MANE Select
ENST00000264651.3	Ensembl	ENSP00000264651.2	8	MANE Select
ENST00001137678.1	Ensembl	ENSP00000803636.1	8	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Estrogen signaling pathway - Homo sapiens (human)
Keratinization
Developmental Biology

Biological Process

biological_process
keratinization
cornification

Molecular Function

molecular_function
structural molecule activity

Cellular Component

cytosol
intermediate filament
extracellular exosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000264651
Coding exons: 8
Length: 5760
Individuals with no LoFs: 45926
Homozygous LoFs: 28767
Heterozygous LoFs: 51054
Defined: 125747
p: 0.396

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.0700	303	300	1.01	0.0000167	3385
Missense (PolyPhen)		87	96.727	0.89944		1272
Synonymous	0.356	114	119	0.958	0.00000692	1073
Loss of Function	-0.125	24	23.3	1.03	0.00000126	276

Population LoF Frequency

Population	CAF	p-value	Status
African	0.21	0.18	notable
Latino/Admixed American	0.71	0.49	notable
Ashkenazi Jewish	0.42	0.38	notable
East Asian	0.60	0.40	notable
Finnish	0.52	0.50	notable
European (Non-Finnish)	0.43	0.37	notable
South Asian	0.58	0.47	notable
Other	0.47	0.36	notable

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0654

Intolerance Scores

LoFtool: 0.234
RVIS EVS: 1.09
RVIS percentile EVS: 91.9

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0147

Gene Damage Prediction

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