KRT83

keratin 83, the group of Keratins, type II

Basic information

Region (hg38): 12:52314300-52321398

Previous symbols: [ "KRTHB3" ]

Links

ENSG00000170523 ∙ NCBI:3889 ∙ OMIM:602765 ∙ HGNC:6460 ∙ Uniprot:P78385 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• monilethrix (Strong), mode of inheritance: AD
• monilethrix (Supportive), mode of inheritance: AD
• erythrokeratodermia variabilis (Supportive), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Monilethrix; Erythrokeratodermia variabilis et progressiva 5	AD/AR	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Dermatologic	15744029; 27965375

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KRT83 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KRT83 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			5	11	16	32
missense		1	62	14	14	91
nonsense				1	2	3
start loss						0
frameshift		1				1
inframe indel				2		2
splice donor/acceptor (+/-2bp)						0
splice region			2	3	3	8
non coding			8	6	31	45
Total	0	2	75	34	63

Variants in KRT83

This is a list of pathogenic ClinVar variants found in the KRT83 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
12-52314306-TC-T		Beaded hair	Benign (Jun 14, 2016)
12-52314363-T-G		Beaded hair	Uncertain significance (Jan 13, 2018)
12-52314406-G-A		Beaded hair	Uncertain significance (Jan 12, 2018)
12-52314423-CAG-C		Beaded hair	Likely benign (Jun 14, 2016)
12-52314457-G-A		Beaded hair	Benign (Nov 12, 2018)
12-52314493-G-A		Beaded hair	Benign (Nov 12, 2018)
12-52314496-G-A		Beaded hair	Uncertain significance (Jan 13, 2018)
12-52314524-A-C		Beaded hair	Uncertain significance (Jan 12, 2018)
12-52314529-A-C		Beaded hair	Uncertain significance (Jan 13, 2018)
12-52314571-G-T		Beaded hair	Uncertain significance (Apr 27, 2017)
12-52314587-G-A		Beaded hair	Uncertain significance (Jan 12, 2018)
12-52314608-C-A		Beaded hair	Benign (Jan 13, 2018)
12-52314636-G-A		Beaded hair	Benign (Jan 31, 2024)
12-52314644-T-G		not specified	Uncertain significance (May 20, 2024)
12-52314648-C-T		not specified	Likely benign (Feb 23, 2023)
12-52314653-G-A		not specified	Uncertain significance (May 31, 2022)
12-52314671-G-T			Uncertain significance (Jun 28, 2022)
12-52314688-G-A		Beaded hair	Uncertain significance (Jan 13, 2018)
12-52314690-G-A		Beaded hair	Conflicting classifications of pathogenicity (Oct 14, 2023)
12-52314695-C-T		not specified	Uncertain significance (Sep 20, 2023)
12-52314701-C-T		Beaded hair • KRT83-related disorder	Benign (Sep 29, 2023)
12-52314715-C-T		Beaded hair	Uncertain significance (Jan 13, 2018)
12-52314723-C-T		not specified	Uncertain significance (Jan 02, 2024)
12-52314733-G-A		KRT83-related disorder	Likely benign (Feb 18, 2019)
12-52314735-C-G		not specified	Uncertain significance (Jul 14, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KRT83	protein_coding	protein_coding	ENST00000293670	9	7098

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.37e-14	0.0215	121050	34	4664	125748	0.0189

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.24	365	304	1.20	0.0000230	3191
Missense in Polyphen		87	76.03	1.1443		969
Synonymous	-2.08	159	129	1.23	0.00000985	979
Loss of Function	0.0936	21	21.5	0.978	0.00000103	252

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0188	0.0187
Ashkenazi Jewish	0.0516	0.0511
East Asian	0.000381	0.000381
Finnish	0.0122	0.0122
European (Non-Finnish)	0.0273	0.0273
Middle Eastern	0.000381	0.000381
South Asian	0.00641	0.00642
Other	0.0248	0.0244

dbNSFP

Source: dbNSFP

• Disease: DISEASE: Erythrokeratodermia variabilis et progressiva 5 (EKVP5) [MIM:617756]: A form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases. EKVP5 inheritance is autosomal recessive. {ECO:0000269|PubMed:27965375}. Note=The disease is caused by mutations affecting the gene represented in this entry.
• Pathway: Keratinization;Developmental Biology (Consensus)

Recessive Scores

• pRec: 0.159

Intolerance Scores

• loftool: 0.307
• rvis_EVS: 0.76
• rvis_percentile_EVS: 86.82

Haploinsufficiency Scores

• pHI: 0.274
• hipred: N
• hipred_score: 0.260
• ghis: 0.413

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.292

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Krt83

Gene ontology

• Biological process: aging;epidermis development;keratinization;hair cycle;cornification
• Cellular component: extracellular space;cytosol;keratin filament
• Molecular function: structural molecule activity;protein binding