KRTAP2-4

keratin associated protein 2-4, the group of Keratin associated proteins

Basic information

Region (hg38): 17:41065116-41065879

Links

ENSG00000213417NCBI:85294HGNC:18891Uniprot:Q9BYR9AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KRTAP2-4 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KRTAP2-4 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
1
clinvar
14
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 1 0

Variants in KRTAP2-4

This is a list of pathogenic ClinVar variants found in the KRTAP2-4 region.

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

Position Type Phenotype Significance ClinVar
17-41065478-C-T not specified Uncertain significance (Dec 28, 2023)3117004
17-41065486-G-T not specified Likely benign (Aug 11, 2023)2593685
17-41065523-C-T not specified Uncertain significance (Feb 16, 2023)2472912
17-41065571-C-T not specified Uncertain significance (Dec 01, 2022)2331423
17-41065601-G-A not specified Uncertain significance (Nov 18, 2022)2327916
17-41065605-G-T not specified Uncertain significance (Jun 07, 2023)2542604
17-41065606-G-C not specified Uncertain significance (Jun 07, 2023)2542596
17-41065608-A-T not specified Uncertain significance (Jun 07, 2023)2542585
17-41065649-G-T not specified Uncertain significance (Oct 03, 2022)2352594
17-41065655-C-T not specified Uncertain significance (Apr 01, 2024)3289688
17-41065691-C-T not specified Uncertain significance (Jan 05, 2022)2270326
17-41065695-T-C not specified Uncertain significance (Oct 13, 2023)3117003
17-41065706-A-G not specified Uncertain significance (Nov 13, 2023)3117001
17-41065800-C-T not specified Uncertain significance (Feb 28, 2023)3117005
17-41065826-C-G not specified Uncertain significance (Feb 10, 2022)2276434

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
KRTAP2-4protein_codingprotein_codingENST00000394015 1763
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.0008470.35200000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.5035667.60.8280.00000480801
Missense in Polyphen2530.1630.82884344
Synonymous0.8962430.30.7930.00000229271
Loss of Function-0.49443.071.301.32e-745

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
hipred
N
hipred_score
0.146
ghis
0.394

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.285

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Krtap2-4
Phenotype

Gene ontology

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