KRT38

protein-coding

keratin 38, 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:

KRTHA8

MANE transcript

NM_006771.4

Inheritance

—

ClinVar variants

U:75B:8

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.8

Max pathogenic AF

—

Genomic locus

chr17:41,436,154-41,440,983

External References & Databases

Ensembl (ENSG00000171360)

Transcript & Mutation Effects

hg38 • Region Span ~4.8 kb

Loading mutation effect viewer...

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 KRT38 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 80

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_006771.4. 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				1 clinvar		1
missense			75 clinvar	7 clinvar		82
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	75	8	0	83

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_006771.4	RefSeq	NP_006762.3	7	MANE Select
ENST00000246646.4	Ensembl	ENSP00000246646.3	7	MANE Select

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Estrogen signaling pathway - Homo sapiens (human)
Vitamin D Receptor Pathway
Keratinization
Developmental Biology

Biological Process

keratinization
cornification

Molecular Function

structural molecule activity
protein binding

Cellular Component

cytosol
intermediate filament
extracellular exosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000246646
Coding exons: 7
Length: 4476
Individuals with no LoFs: 125567
Homozygous LoFs: 0
Heterozygous LoFs: 181
Defined: 125748
p: 0.000720

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.654	299	269	1.11	0.0000163	2955
Missense (PolyPhen)		92	82.455	1.1158		1082
Synonymous	-0.928	130	117	1.11	0.00000732	911
Loss of Function	0.810	15	18.8	0.798	8.87e-7	211

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0066	0.0067	notable
Latino/Admixed American	0.00055	0.00055	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00076	0.00076	rare
Finnish	0.000092	0.000092	rare
European (Non-Finnish)	0.00026	0.00026	rare
South Asian	0.00014	0.00013	rare
Other	0.00065	0.00065	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.112

Intolerance Scores

LoFtool: 0.192
RVIS EVS: -0.33
RVIS percentile EVS: 30.82

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.193

Gene Damage Prediction

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