KRT83
protein-codingkeratin 83, the group of Keratins, type II
Gene summary
The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin, as well as KRTHB1 and KRTHB6, is found primarily in the hair cortex. [provided by RefSeq, Jul 2008]
- KRTHB3
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~7.1 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
Inheritance Pattern: AD
Disease ID:MONDO:0008009
Submitter: Labcorp Genetics (formerly Invitae)
Inheritance Pattern: AD
Disease ID:MONDO:0008009
Submitter: Orphanet
Inheritance Pattern: AR
Disease ID:MONDO:0033015
Submitter: PanelApp Australia
Inheritance Pattern: AD
Disease ID:MONDO:0008009
Submitter: G2P
Inheritance Pattern: AD
Disease ID:MONDO:0700342
Submitter: PanelApp Australia
Inheritance Pattern: AD
Disease ID:MONDO:0017851
Submitter: Orphanet
Clinical Genomic Database (CGD)
Manifestation: Dermatologic
Intervention: General
Rationale: 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
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to KRT83 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_002282.3. 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 | 5 | 19 | 7 | 31 | ||
| missense | 1 | 2 | 112 | 22 | 9 | 146 |
| nonsense | 1 | 1 | 2 | 4 | ||
| start loss | 0 | |||||
| frameshift | 3 | 2 | 5 | |||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 1 | 5 | 120 | 42 | 18 | 186 |
Highest pathogenic variant AF is 0.00009540152
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_002273.3 | 9 | MANE Select | |
| Ensembl | ENSP00000293670.3 | 9 | MANE Select |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Keratinization
- Developmental Biology
Biological Process
- aging
- epidermis development
- keratinization
- hair cycle
- cornification
Molecular Function
- structural molecule activity
- protein binding
Cellular Component
- extracellular space
- cytosol
- keratin filament
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000293670
- Coding exons
- 9
- Length
- 7098
- Individuals with no LoFs
- 121050
- Homozygous LoFs
- 34
- Heterozygous LoFs
- 4664
- Defined
- 125748
- p
- 0.0189
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -1.24 | 365 | 304 | 1.20 | 0.0000230 | 3191 |
| Missense (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 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0073 | 0.0072 | notable |
| Latino/Admixed American | 0.012 | 0.012 | notable |
| Ashkenazi Jewish | 0.052 | 0.051 | notable |
| East Asian | 0.00038 | 0.00038 | rare |
| Finnish | 0.012 | 0.012 | notable |
| European (Non-Finnish) | 0.027 | 0.027 | notable |
| South Asian | 0.0064 | 0.0064 | notable |
| Other | 0.025 | 0.024 | notable |
dbNSFP Gene Annotations
Source:
- 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.;
Recessive Scores
- pRec
- 0.159
Intolerance Scores
- LoFtool
- 0.307
- RVIS EVS
- 0.76
- RVIS percentile EVS
- 86.82
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.292
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | High |
| Cancer | Medium | Medium | Medium |