KRT36

protein-coding

keratin 36, the group of Keratins, type I

Gene summary

The protein encoded by this gene is a member of the keratin gene family. This type I hair keratin is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008]

Previous symbols:

KRTHA6

MANE transcript

NM_003771.5

Inheritance

—

ClinVar variants

U:83B:7

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.96

Max pathogenic AF

—

Genomic locus

chr17:41,486,136-41,492,546

External References & Databases

Ensembl (ENSG00000126337)

Transcript & Mutation Effects

hg38 • Region Span ~6.4 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 KRT36 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 86

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_003771.5. 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						0
missense			82 clinvar	5 clinvar	2 clinvar	89
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	83	5	2	90

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_003771.5	RefSeq	NP_003762.1	7	MANE Select
ENST00000328119.11	Ensembl	ENSP00000329165.6	7	MANE Select
ENST00000393986.2	Ensembl	ENSP00000377555.2	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
regulation of keratinocyte differentiation
cornification

Molecular Function

structural constituent of epidermis

Cellular Component

cytosol
intermediate filament
extracellular exosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000328119
Coding exons: 7
Length: 6411
Individuals with no LoFs: 124644
Homozygous LoFs: 12
Heterozygous LoFs: 1092
Defined: 125748
p: 0.00440

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.282	268	281	0.953	0.0000177	3004
Missense (PolyPhen)		98	106.66	0.91884		1172
Synonymous	-0.339	129	124	1.04	0.00000804	962
Loss of Function	0.165	20	20.8	0.961	9.83e-7	227

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0014	0.0014	notable
Latino/Admixed American	0.0034	0.0034	notable
Ashkenazi Jewish	0.0040	0.0040	notable
East Asian	0.00076	0.00076	rare
Finnish	0.0035	0.0035	notable
European (Non-Finnish)	0.0037	0.0037	notable
South Asian	0.013	0.012	notable
Other	0.0065	0.0065	notable

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.142

Intolerance Scores

LoFtool: 0.340
RVIS EVS: 1.45
RVIS percentile EVS: 95.12

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.499

Gene Damage Prediction

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