KRT37
protein-codingkeratin 37, 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]
- KRTHA7
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~4.0 kbGenCC 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 KRT37 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_003770.5. 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 | 86 | 3 | 89 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 86 | 3 | 0 | 89 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_003761.3 | 7 | MANE Select | |
| Ensembl | ENSP00000225550.3 | 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
- keratinization
- cornification
Molecular Function
- structural molecule activity
Cellular Component
- cytosol
- intermediate filament
- extracellular exosome
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000225550
- Coding exons
- 7
- Length
- 3771
- Individuals with no LoFs
- 92241
- Homozygous LoFs
- 3605
- Heterozygous LoFs
- 29902
- Defined
- 125748
- p
- 0.144
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.358 | 291 | 274 | 1.06 | 0.0000167 | 2931 |
| Missense (PolyPhen) | 71 | 75.535 | 0.93997 | 1006 | ||
| Synonymous | -0.989 | 137 | 123 | 1.11 | 0.00000820 | 895 |
| Loss of Function | 0.546 | 16 | 18.5 | 0.863 | 7.90e-7 | 215 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.048 | 0.047 | notable |
| Latino/Admixed American | 0.094 | 0.091 | notable |
| Ashkenazi Jewish | 0.16 | 0.15 | notable |
| East Asian | 0.30 | 0.28 | notable |
| Finnish | 0.080 | 0.077 | notable |
| European (Non-Finnish) | 0.16 | 0.16 | notable |
| South Asian | 0.20 | 0.19 | notable |
| Other | 0.16 | 0.15 | notable |
dbNSFP Gene Annotations
Source:
Recessive Scores
- pRec
- 0.111
Intolerance Scores
- LoFtool
- 0.102
- RVIS EVS
- 1.78
- RVIS percentile EVS
- 96.85
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.433
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | High | High | High |
| Primary Immunodeficiency | High | High | High |
| Cancer | High | High | High |