KRT32

keratin 32, the group of Keratins, type I

Basic information

Region (hg38): 17:41459513-41467386

Previous symbols: [ "KRTHA2" ]

Links

ENSG00000108759 ∙ NCBI:3882 ∙ OMIM:602760 ∙ HGNC:6449 ∙ Uniprot:Q14532 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KRT32 gene.

• not_specified (62 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KRT32 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000002278.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			61	1		62
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	61	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KRT32	protein_coding	protein_coding	ENST00000225899	7	7619

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.36e-18	0.000398	125676	0	72	125748	0.000286

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.610	296	268	1.10	0.0000165	2893
Missense in Polyphen		90	83.331	1.08		988
Synonymous	-0.993	131	117	1.12	0.00000744	892
Loss of Function	-1.23	24	18.3	1.31	8.40e-7	202

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000783	0.000766
Ashkenazi Jewish	0.000125	0.0000992
East Asian	0.000299	0.000272
Finnish	0.000354	0.000323
European (Non-Finnish)	0.000277	0.000264
Middle Eastern	0.000299	0.000272
South Asian	0.000394	0.000359
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Pathway: Estrogen signaling pathway - Homo sapiens (human);Keratinization;Developmental Biology (Consensus)

Recessive Scores

• pRec: 0.180

Intolerance Scores

• loftool: 0.179
• rvis_EVS: 3.43
• rvis_percentile_EVS: 99.46

Haploinsufficiency Scores

• pHI: 0.147
• hipred: N
• hipred_score: 0.170

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.493

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Krt32

Gene ontology

• Biological process: epidermis development;keratinization;cornification
• Cellular component: cytosol;intermediate filament;extracellular exosome
• Molecular function: structural molecule activity