KRT33B

protein-coding

keratin 33B, the group of Keratins, type I

Gene summary

This gene encodes a member of the keratin gene family. This gene is one of multiple type I hair keratin genes that are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. As a type I hair keratin, the encoded protein is an acidic protein which heterodimerizes with type II keratins to form hair and nails. There are two isoforms of this protein, encoded by two separate genes, keratin 33A and keratin 33B. [provided by RefSeq, May 2012]

Previous symbols:

KRTHA3B

MANE transcript

NM_002279.5

Inheritance

—

ClinVar variants

U:82B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.18

Max pathogenic AF

—

Genomic locus

chr17:41,363,498-41,369,813

External References & Databases

Ensembl (ENSG00000131738)

Transcript & Mutation Effects

hg38 • Region Span ~6.3 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 KRT33B variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 84

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_002279.5. 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	3 clinvar		85
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	82	3	0	85

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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_002279.5	RefSeq	NP_002270.1	7	MANE Select
ENST00000251646.8	Ensembl	ENSP00000251646.3	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

aging
keratinization
hair cycle
cornification

Molecular Function

structural molecule activity
protein binding

Cellular Component

extracellular space
cytosol
intermediate filament
extracellular exosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000251646
Coding exons: 7
Length: 6307
Individuals with no LoFs: 125583
Homozygous LoFs: 2
Heterozygous LoFs: 163
Defined: 125748
p: 0.000656

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.472	271	250	1.08	0.0000166	2633
Missense (PolyPhen)		65	72.638	0.89485		894
Synonymous	-2.01	138	111	1.24	0.00000726	805
Loss of Function	-0.740	23	19.5	1.18	9.22e-7	209

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0017	0.0015	notable
Latino/Admixed American	0.0014	0.0014	notable
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000054	0.000054	rare
Finnish	0.00014	0.00014	rare
European (Non-Finnish)	0.00064	0.00064	rare
South Asian	0.00050	0.00042	rare
Other	0.00049	0.00049	rare

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.192
RVIS EVS: 0.73
RVIS percentile EVS: 86.27

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.769

Gene Damage Prediction

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