KRT71

keratin 71, the group of Keratins, type II

Basic information

Region (hg38): 12:52543908-52553145

Links

ENSG00000139648 ∙ NCBI:112802 ∙ OMIM:608245 ∙ HGNC:28927 ∙ Uniprot:Q3SY84 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• hypotrichosis 13 (Limited), mode of inheritance: AD
• isolated familial wooly hair disorder (Supportive), mode of inheritance: AD
• hypotrichosis 13 (Limited), mode of inheritance: Unknown

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Hypotrichosis 13	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	22592156

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KRT71 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KRT71 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				12	7	19
missense			48	6	10	64
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region			2	1	3	6
non coding				3	20	23
Total	0	0	48	21	37

Variants in KRT71

This is a list of pathogenic ClinVar variants found in the KRT71 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-52544536-C-T			Benign (Jan 29, 2024)
12-52544537-G-A		KRT71-related disorder	Benign (Dec 30, 2023)
12-52544563-A-G		KRT71-related disorder • not specified	Conflicting classifications of pathogenicity (Sep 17, 2023)
12-52544579-C-T		not specified	Uncertain significance (Apr 25, 2022)
12-52544580-T-C			Benign (Jan 31, 2024)
12-52544598-G-A			Likely benign (Dec 12, 2022)
12-52544619-G-A		KRT71-related disorder	Benign (Jan 02, 2020)
12-52544627-C-T		KRT71-related disorder	Likely benign (Jan 13, 2024)
12-52544636-C-T		not specified	Uncertain significance (Jul 25, 2023)
12-52544644-A-T		not specified	Uncertain significance (Jun 11, 2021)
12-52544681-C-T		not specified	Uncertain significance (Oct 26, 2022)
12-52544684-C-T		not specified	Uncertain significance (Jan 29, 2024)
12-52544690-C-A		KRT71-related disorder	Benign/Likely benign (Jan 04, 2024)
12-52544695-C-T		not specified	Uncertain significance (Dec 16, 2022)
12-52544696-T-C		not specified	Uncertain significance (May 25, 2023)
12-52544701-C-T			Uncertain significance (Sep 23, 2022)
12-52544702-G-A		not specified	Uncertain significance (Jun 22, 2021)
12-52544713-A-C			Benign (Jan 31, 2024)
12-52544721-G-A			Likely benign (Feb 23, 2022)
12-52544728-G-C			Benign (Nov 24, 2023)
12-52544751-A-G			Benign (Jan 31, 2024)
12-52544751-AG-GT			Uncertain significance (Oct 08, 2022)
12-52544921-C-T			Benign (Nov 12, 2018)
12-52545441-G-A			Benign (Jun 21, 2021)
12-52545576-G-A		Hypotrichosis 13	Uncertain significance (Oct 25, 2019)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KRT71	protein_coding	protein_coding	ENST00000267119	9	9239

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
9.01e-7	0.928	125696	0	52	125748	0.000207

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.410	340	319	1.06	0.0000200	3422
Missense in Polyphen		121	128.65	0.94051		1486
Synonymous	0.182	134	137	0.980	0.00000877	1045
Loss of Function	1.76	13	21.9	0.595	0.00000112	254

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000978	0.000977
Ashkenazi Jewish	0.000301	0.000198
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000176	0.000176
Middle Eastern	0.0000544	0.0000544
South Asian	0.000294	0.000294
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a central role in hair formation. Essential component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle. {ECO:0000269|PubMed:22592156}.
• Disease: DISEASE: Hypotrichosis 13 (HYPT13) [MIM:615896]: A form of hypotrichosis, a condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The extent of scalp and body hair involvement can be very variable, within as well as between families. HYPT13 is characterized by sparse woolly hair. {ECO:0000269|PubMed:22592156}. Note=The disease is caused by mutations affecting the gene represented in this entry.
• Pathway: Vitamin D Receptor Pathway;Keratinization;Developmental Biology (Consensus)

Recessive Scores

• pRec: 0.109

Intolerance Scores

• loftool: 0.207
• rvis_EVS: 1.03
• rvis_percentile_EVS: 91.09

Haploinsufficiency Scores

• pHI: 0.183
• hipred: N
• hipred_score: 0.248

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.144

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Krt71
• Phenotype: endocrine/exocrine gland phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); 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: hair follicle morphogenesis;keratinization;intermediate filament organization;cornification
• Cellular component: cytosol;keratin filament;extracellular exosome
• Molecular function: structural molecule activity;protein binding