KRT76

protein-coding

keratin 76, the group of Keratins, type II

Gene summary

Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. The type II keratins are clustered in a region of chromosome 12q13. [provided by RefSeq, Jun 2009]

MANE transcript

NM_015848.4

Inheritance

—

ClinVar variants

U:108B:7

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.99

Max pathogenic AF

—

Genomic locus

chr12:52,768,155-52,777,345

External References & Databases

Ensembl (ENSG00000185069)

Transcript & Mutation Effects

hg38 • Region Span ~9.2 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 KRT76 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 107

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_015848.4. 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			3
missense			102 clinvar	6 clinvar		108
nonsense			1 clinvar	1 clinvar		2
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	108	7	0	115

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 2 of 2 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_015848.4	RefSeq	NP_056932.2	9	MANE Select
ENST00000332411.2	Ensembl	ENSP00000330101.2	9	MANE Select

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Keratinization
Developmental Biology

Biological Process

cytoskeleton organization
keratinization
pigmentation
sebaceous gland development
cornification

Molecular Function

structural molecule activity

Cellular Component

nucleus
cytosol
intermediate filament
keratin filament
extracellular exosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000332411
Coding exons: 9
Length: 9191
Individuals with no LoFs: 123871
Homozygous LoFs: 9
Heterozygous LoFs: 1868
Defined: 125748
p: 0.00749

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.753	402	362	1.11	0.0000200	4201
Missense (PolyPhen)		115	104.44	1.1011		1512
Synonymous	-1.56	162	139	1.17	0.00000747	1268
Loss of Function	0.0485	21	21.2	0.989	9.09e-7	266

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0018	0.0018	notable
Latino/Admixed American	0.0025	0.0025	notable
Ashkenazi Jewish	0.031	0.031	notable
East Asian	0.0015	0.0015	notable
Finnish	0.0076	0.0076	notable
European (Non-Finnish)	0.0093	0.0093	notable
South Asian	0.0049	0.0048	notable
Other	0.0091	0.0092	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Probably contributes to terminal cornification. {ECO:0000269|PubMed:1282112}.;

Intolerance Scores

LoFtool: 0.171
RVIS EVS: 1.25
RVIS percentile EVS: 93.47

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.131

Gene Damage Prediction

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