KRT32

protein-coding

keratin 32, the group of Keratins, type I

Gene summary

The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it 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:

KRTHA2

MANE transcript

NM_002278.3

Inheritance

—

ClinVar variants

U:73B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.31

Max pathogenic AF

—

Genomic locus

chr17:41,459,513-41,467,386

External References & Databases

Ensembl (ENSG00000108759)

Transcript & Mutation Effects

hg38 • Region Span ~7.9 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 KRT32 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 73

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_002278.3. 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						0
missense			73 clinvar	1 clinvar		74
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	73	1	0	74

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_002278.3	RefSeq	NP_002269.3	7	MANE Select
ENST00000225899.4	Ensembl	ENSP00000225899.3	7	MANE Select

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

epidermis development
keratinization
cornification

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: ENST00000225899
Coding exons: 7
Length: 7619
Individuals with no LoFs: 125676
Homozygous LoFs: 0
Heterozygous LoFs: 72
Defined: 125748
p: 0.000286

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.610	296	268	1.10	0.0000165	2893
Missense (PolyPhen)		90	83.331	1.08		988
Synonymous	-0.993	131	117	1.12	0.00000744	892
Loss of Function	-1.23	24	18.3	1.31	8.40e-7	202

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00051	0.00049	rare
Latino/Admixed American	0.00027	0.00026	rare
Ashkenazi Jewish	0.00013	0.000099	rare
East Asian	0.00030	0.00027	rare
Finnish	0.00035	0.00032	rare
European (Non-Finnish)	0.00028	0.00026	rare
South Asian	0.00039	0.00036	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.180

Intolerance Scores

LoFtool: 0.179
RVIS EVS: 3.43
RVIS percentile EVS: 99.46

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.493

Gene Damage Prediction

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