KRT82

keratin 82, the group of Keratins, type II

Basic information

Region (hg38): 12:52393931-52406335

Previous symbols: [ "KRTHB2" ]

Links

ENSG00000161850 ∙ NCBI:3888 ∙ OMIM:601078 ∙ HGNC:6459 ∙ Uniprot:Q9NSB4 ∙ 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 KRT82 gene.

• not_specified (90 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KRT82 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000033033.4. 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				1		1
missense			91			91
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	91	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KRT82	protein_coding	protein_coding	ENST00000257974	9	12425

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.65e-18	0.00158	124778	2	968	125748	0.00386

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.653	355	322	1.10	0.0000200	3328
Missense in Polyphen		90	101.87	0.88346		1142
Synonymous	-2.19	174	141	1.24	0.00000935	1029
Loss of Function	-0.527	25	22.3	1.12	0.00000103	261

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00344	0.00343
Ashkenazi Jewish	0.000100	0.0000992
East Asian	0.0135	0.0135
Finnish	0.00135	0.00129
European (Non-Finnish)	0.00454	0.00446
Middle Eastern	0.0135	0.0135
South Asian	0.00288	0.00285
Other	0.00263	0.00261

dbNSFP

Source: dbNSFP

• Pathway: Keratinization;Developmental Biology (Consensus)

Recessive Scores

• pRec: 0.160

Intolerance Scores

• loftool: 0.185
• rvis_EVS: 0.96
• rvis_percentile_EVS: 90.19

Haploinsufficiency Scores

• pHI: 0.0924
• hipred: N
• hipred_score: 0.170
• ghis: 0.405

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.733

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Krt82

Gene ontology

• Biological process: biological_process;keratinization;cornification
• Cellular component: cytosol;keratin filament
• Molecular function: structural constituent of epidermis