KRT77

protein-coding

keratin 77, 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. This gene encodes an epithelial keratin that is expressed in the skin and eccrine sweat glands. The type II keratins are clustered in a region of chromosome 12q13.[provided by RefSeq, Jun 2009]

Previous symbols:

KRT1B

MANE transcript

NM_175078.3

Inheritance

—

ClinVar variants

U:91B:9

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.87

Max pathogenic AF

—

Genomic locus

chr12:52,689,626-52,703,524

External References & Databases

Ensembl (ENSG00000189182)

Transcript & Mutation Effects

hg38 • Region Span ~13.9 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 KRT77 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 99

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_175078.3. 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				2 clinvar		2
missense			91 clinvar	7 clinvar		98
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	91	9	0	100

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 5 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_175078.3	RefSeq	NP_778253.2	9	MANE Select
ENST00000341809.8	Ensembl	ENSP00000342710.3	9	MANE Select
ENST00000553168.1	Ensembl	ENSP00000448207.1	3	Standard
XM_011538288.3	RefSeq	XP_011536590.1	8	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Keratinization
Developmental Biology

Biological Process

biological_process
keratinization
cornification

Molecular Function

molecular_function
structural molecule activity

Cellular Component

cytosol
cytoskeleton
keratin filament
extracellular exosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000341809
Coding exons: 9
Length: 13838
Individuals with no LoFs: 125389
Homozygous LoFs: 8
Heterozygous LoFs: 351
Defined: 125748
p: 0.00143

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.463	360	336	1.07	0.0000180	3755
Missense (PolyPhen)		105	105.99	0.99067		1345
Synonymous	-0.180	145	142	1.02	0.00000823	1158
Loss of Function	0.582	20	23.0	0.869	0.00000113	256

Population LoF Frequency

Population	CAF	p-value	Status
African	0.014	0.014	notable
Latino/Admixed American	0.00055	0.00055	rare
Ashkenazi Jewish	0.0012	0.0011	notable
East Asian	0.0019	0.0019	notable
Finnish	0	0.0	absent
European (Non-Finnish)	0.00033	0.00032	rare
South Asian	0.00096	0.00095	rare
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.181
RVIS EVS: 2.29
RVIS percentile EVS: 98.31

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.411

Gene Damage Prediction

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