KRT72

keratin 72, the group of Keratins, type II

Basic information

Region (hg38): 12:52585589-52601538

Links

ENSG00000170486 ∙ NCBI:140807 ∙ OMIM:608246 ∙ HGNC:28932 ∙ Uniprot:Q14CN4 ∙ 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 KRT72 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KRT72 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			39	3		42
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	39	3	0

Variants in KRT72

This is a list of pathogenic ClinVar variants found in the KRT72 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-52586008-A-C		not specified	Uncertain significance (Apr 25, 2022)
12-52586019-G-A		not specified	Uncertain significance (May 18, 2023)
12-52586053-C-T		not specified	Uncertain significance (May 13, 2024)
12-52586115-C-T		not specified	Uncertain significance (Nov 28, 2023)
12-52586163-C-T		not specified	Uncertain significance (Dec 03, 2024)
12-52586172-G-A		not specified	Uncertain significance (May 03, 2023)
12-52586977-C-T		not specified	Uncertain significance (Feb 28, 2023)
12-52587758-C-T		not specified	Uncertain significance (Nov 20, 2024)
12-52587770-C-G		not specified	Uncertain significance (Feb 06, 2023)
12-52587785-G-A		not specified	Uncertain significance (Oct 12, 2022)
12-52587800-C-T		not specified	Uncertain significance (Oct 05, 2021)
12-52587812-G-A		not specified	Uncertain significance (Sep 27, 2024)
12-52587845-C-T		not specified	Likely benign (Aug 17, 2022)
12-52590883-G-A		not specified	Uncertain significance (May 27, 2022)
12-52590913-G-A		not specified	Uncertain significance (Oct 26, 2022)
12-52590927-C-T		not specified	Uncertain significance (May 26, 2022)
12-52590931-G-C		not specified	Uncertain significance (May 07, 2024)
12-52590960-A-G		not specified	Uncertain significance (Dec 31, 2023)
12-52591484-C-T		not specified	Uncertain significance (Jan 09, 2024)
12-52591490-C-T		not specified	Uncertain significance (Sep 23, 2023)
12-52591517-C-T		not specified	Uncertain significance (Jun 04, 2024)
12-52591528-C-T		not specified	Uncertain significance (Nov 14, 2023)
12-52591579-G-A		not specified	Uncertain significance (Aug 14, 2024)
12-52591586-C-T		not specified	Likely benign (Jul 14, 2021)
12-52591598-C-T		not specified	Uncertain significance (Mar 31, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KRT72	protein_coding	protein_coding	ENST00000293745	9	15950

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.37e-11	0.100	125655	0	93	125748	0.000370

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.655	345	312	1.10	0.0000193	3319
Missense in Polyphen		113	114.96	0.98296		1358
Synonymous	-0.119	141	139	1.01	0.00000907	1026
Loss of Function	0.451	18	20.2	0.892	9.12e-7	241

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00248	0.00249
Ashkenazi Jewish	0.00	0.00
East Asian	0.000924	0.000925
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.000141	0.000141
Middle Eastern	0.000924	0.000925
South Asian	0.000462	0.000457
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Has a role in hair formation. Specific component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle (Probable). {ECO:0000305}.
• Pathway: Keratinization;Developmental Biology (Consensus)

Recessive Scores

• pRec: 0.112

Intolerance Scores

• loftool: 0.0427
• rvis_EVS: 0.96
• rvis_percentile_EVS: 90.17

Haploinsufficiency Scores

• pHI: 0.232
• hipred: N
• hipred_score: 0.199
• ghis: 0.397

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.529

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Krt72

Gene ontology

• Biological process: biological_process;keratinization;cornification
• Cellular component: cytosol;keratin filament;extracellular exosome
• Molecular function: molecular_function;structural molecule activity;protein binding