KRTAP4-3

keratin associated protein 4-3, the group of Keratin associated proteins

Basic information

Region (hg38): 17:41167231-41168221

Links

ENSG00000196156NCBI:85290HGNC:18908Uniprot:Q9BYR4AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KRTAP4-3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KRTAP4-3 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
13
clinvar
13
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 13 0 0

Variants in KRTAP4-3

This is a list of pathogenic ClinVar variants found in the KRTAP4-3 region.

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

Position Type Phenotype Significance ClinVar
17-41167605-A-G not specified Uncertain significance (Dec 18, 2023)3117057
17-41167665-G-T not specified Uncertain significance (Jun 19, 2024)3289711
17-41167669-G-T not specified Uncertain significance (Nov 17, 2022)2326462
17-41167699-A-C not specified Uncertain significance (Jun 18, 2021)2233352
17-41167718-G-A not specified Uncertain significance (Oct 22, 2021)2382659
17-41167721-C-T not specified Uncertain significance (Mar 22, 2023)2507920
17-41167776-T-A not specified Uncertain significance (Jun 03, 2022)2293561
17-41167781-C-T not specified Uncertain significance (May 08, 2023)2509447
17-41167808-G-A not specified Uncertain significance (Sep 12, 2023)2622878
17-41167884-T-C not specified Uncertain significance (May 10, 2022)2288370
17-41167887-T-TGCAGCAGGTGGTCTG Likely benign (Jul 01, 2024)3257581
17-41168048-G-T not specified Uncertain significance (Jan 25, 2023)2458698
17-41168066-C-G not specified Uncertain significance (Mar 25, 2022)2279839
17-41168094-G-C not specified Uncertain significance (Sep 23, 2023)3117058
17-41168163-A-C not specified Uncertain significance (Mar 13, 2023)2495698

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
KRTAP4-3protein_codingprotein_codingENST00000391356 1941
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.507981130.8660.000006311303
Missense in Polyphen
Synonymous0.4323538.40.9110.00000197335
Loss of Function

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish
East Asian
Finnish
European (Non-Finnish)
Middle Eastern
South Asian
Other

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.;

Intolerance Scores

loftool
0.839
rvis_EVS
0.66
rvis_percentile_EVS
84.35

Haploinsufficiency Scores

pHI
0.0721
hipred
N
hipred_score
0.146
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.0939

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Krtap4-16
Phenotype

Gene ontology

Biological process
aging;keratinization;hair cycle
Cellular component
cytosol;keratin filament
Molecular function