KRTAP2-3

keratin associated protein 2-3, the group of Keratin associated proteins

Basic information

Region (hg38): 17:41059240-41060114

Links

ENSG00000212724NCBI:730755HGNC:18906Uniprot:P0C7H8AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KRTAP2-3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KRTAP2-3 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
0
missense
7
clinvar
7
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 7 0 0

Variants in KRTAP2-3

This is a list of pathogenic ClinVar variants found in the KRTAP2-3 region.

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

Position Type Phenotype Significance ClinVar
17-41059736-C-A not specified Uncertain significance (Dec 13, 2021)2224533
17-41059741-C-T not specified Uncertain significance (Aug 01, 2022)2304209
17-41059789-C-G not specified Uncertain significance (Jun 27, 2023)2598152
17-41059827-C-A not specified Uncertain significance (May 08, 2024)3289687
17-41059828-G-A not specified Uncertain significance (Mar 06, 2023)2457394
17-41059836-C-A not specified Uncertain significance (Oct 04, 2022)2316246
17-41059854-G-A not specified Uncertain significance (Oct 29, 2021)2258042
17-41059914-C-A not specified Uncertain significance (Nov 07, 2022)2323541
17-41060031-C-A not specified Uncertain significance (May 08, 2024)3289686

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
KRTAP2-3protein_codingprotein_codingENST00000391418 1850
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.006940.54300000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.294070.40.5680.00000475799
Missense in Polyphen1831.8470.56521341
Synonymous0.4702831.30.8930.00000222276
Loss of Function0.062733.120.9621.34e-744

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000.00
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins (By similarity). {ECO:0000250}.;

Haploinsufficiency Scores

pHI
0.246
hipred
N
hipred_score
0.180
ghis
0.415

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.307

Gene Damage Prediction

AllRecessiveDominant
MendelianHighMediumHigh
Primary ImmunodeficiencyHighHighHigh
CancerHighHighHigh

Mouse Genome Informatics

Gene name
Krtap2-4
Phenotype

Gene ontology

Biological process
keratinization
Cellular component
cytosol;keratin filament
Molecular function
protein binding