KRT75

keratin 75, the group of Keratins, type II

Basic information

Region (hg38): 12:52424070-52434371

Links

ENSG00000170454 ∙ NCBI:9119 ∙ OMIM:609025 ∙ HGNC:24431 ∙ Uniprot:O95678 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Pseudofolliculitis barbae	AD	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Dermatologic	15086549

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KRT75 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KRT75 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				2	1	3
missense			44	4	7	55
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding				1		1
Total	0	0	44	7	8

Variants in KRT75

This is a list of pathogenic ClinVar variants found in the KRT75 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-52424524-G-T			Uncertain significance (-)
12-52424587-A-G		not specified	Uncertain significance (Feb 28, 2024)
12-52424593-C-T		KRT75-related disorder	Benign (Oct 23, 2019)
12-52424672-C-T		not specified	Likely benign (Dec 08, 2021)
12-52424677-C-T		not specified	Uncertain significance (Jun 10, 2024)
12-52424684-C-T		not specified	Uncertain significance (Feb 23, 2023)
12-52424704-C-T		not specified	Uncertain significance (Jan 31, 2022)
12-52424710-C-G		not specified	Uncertain significance (Jan 23, 2023)
12-52424717-C-T		not specified	Uncertain significance (Jan 31, 2022)
12-52424719-C-T		not specified	Uncertain significance (Apr 18, 2023)
12-52426851-C-T		KRT75-related disorder	Likely benign (Jul 13, 2020)
12-52428310-G-A		not specified	Uncertain significance (Jun 24, 2022)
12-52428352-C-T		not specified	Uncertain significance (Jun 16, 2023)
12-52428455-T-A		not specified	Uncertain significance (Oct 03, 2022)
12-52428460-G-T		not specified	Uncertain significance (Jul 12, 2023)
12-52428485-A-G		KRT75-related disorder	Likely benign (Sep 06, 2019)
12-52428664-C-T		not specified	Uncertain significance (Sep 14, 2022)
12-52428666-G-T		not specified	Uncertain significance (Aug 08, 2023)
12-52428680-T-C		KRT75-related disorder	Benign (Mar 29, 2018)
12-52428697-C-T		not specified	Uncertain significance (Oct 26, 2021)
12-52428704-C-G		not specified	Uncertain significance (Apr 11, 2023)
12-52430567-C-T		KRT75-related disorder	Benign (Dec 09, 2019)
12-52430578-C-T		not specified	Uncertain significance (Oct 03, 2023)
12-52430579-G-A		KRT75-related disorder	Likely benign (Feb 15, 2022)
12-52430597-A-G		not specified	Uncertain significance (Mar 18, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KRT75	protein_coding	protein_coding	ENST00000252245	9	10456

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.04e-8	0.814	125582	1	165	125748	0.000660

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.966	364	316	1.15	0.0000202	3581
Missense in Polyphen		110	93.861	1.172		1261
Synonymous	-1.72	152	127	1.19	0.00000805	1132
Loss of Function	1.50	15	22.7	0.660	0.00000125	251

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00101	0.00101
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.000934	0.000923
Middle Eastern	0.000109	0.000109
South Asian	0.000822	0.000784
Other	0.000978	0.000978

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a central role in hair and nail formation. Essential component of keratin intermediate filaments in the companion layer of the hair follicle.
• Disease: DISEASE: Loose anagen hair syndrome (LAHS) [MIM:600628]: In LAHS, anagen hairs are easily pulled from the scalp. The hair is relatively sparse and does not grow long. Hair of fair color and hair shafts of reduced caliber, and an early age of onset are features. Usually the hairs are not fragile and there are no areas of breakage. {ECO:0000269|PubMed:11939812}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
• Pathway: Keratinization;Developmental Biology (Consensus)

Recessive Scores

• pRec: 0.156

Intolerance Scores

• loftool: 0.170
• rvis_EVS: 2.52
• rvis_percentile_EVS: 98.68

Haploinsufficiency Scores

• pHI: 0.0968
• hipred: N
• hipred_score: 0.208

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.129

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Krt75
• Phenotype: integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan)

Gene ontology

• Biological process: hematopoietic progenitor cell differentiation;keratinization;cornification
• Cellular component: cytosol;intermediate filament;keratin filament;extracellular exosome
• Molecular function: structural molecule activity