KRT86 (keratin 86)

Gene

• Entrez ID: 3892
• Gene name: Keratin 86
• Gene symbol: KRT86
• Synonyms (NCBI Gene): HB6, Hb1, K86, KRTHB1, KRTHB6, MNX, NMLIX1
• Chromosome: 12
• Chromosome location: 12q13.13
• Summary: This gene encodes a type II keratin protein, which heterodimerizes with type I keratins to form hair and nails. This gene is present in a cluster of related genes and pseudogenes on chromosome 12. Mutations in this gene have been observed in patients with

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs60612575	C>A,T	Not-provided, pathogenic	Missense variant, coding sequence variant
rs60687604	G>A,C	Not-provided, pathogenic	Missense variant, coding sequence variant
rs61091894	A>C,G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs121909129	G>A	Pathogenic, not-provided	Coding sequence variant, missense variant
rs121909130	G>T	Pathogenic, not-provided	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1101892	hsa-miR-3065-5p	CLIP-seq
MIRT1101893	hsa-miR-4786-5p	CLIP-seq
MIRT1101894	hsa-miR-4797-5p	CLIP-seq
MIRT1101895	hsa-miR-548v	CLIP-seq
MIRT2027695	hsa-miR-4326	CLIP-seq
MIRT2027696	hsa-miR-4691-5p	CLIP-seq
MIRT2259027	hsa-miR-2110	CLIP-seq
MIRT2259028	hsa-miR-3150a-3p	CLIP-seq
MIRT2259029	hsa-miR-4260	CLIP-seq
MIRT2259030	hsa-miR-4271	CLIP-seq
MIRT2027695	hsa-miR-4326	CLIP-seq
MIRT2027696	hsa-miR-4691-5p	CLIP-seq
MIRT2259031	hsa-miR-4725-3p	CLIP-seq
MIRT2027695	hsa-miR-4326	CLIP-seq
MIRT2027696	hsa-miR-4691-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 31515488, 32296183
GO:0005615	Component	Extracellular space	HDA	23580065
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005882	Component	Intermediate filament	IEA
GO:0030280	Function	Structural constituent of skin epidermis	IBA
GO:0031424	Process	Keratinization	IBA
GO:0045095	Component	Keratin filament	IBA
GO:0045095	Component	Keratin filament	IEA
GO:0045095	Component	Keratin filament	IPI	32296183
GO:0045109	Process	Intermediate filament organization	IBA

Other IDs

• MIM: 601928
• HGNC: 6463
• e!Ensembl: ENSG00000170442

Protein

• UniProt ID: O43790
• Protein name: Keratin, type II cuticular Hb6 (Hair keratin K2.11) (Keratin-86) (K86) (Type II hair keratin Hb6) (Type-II keratin Kb26)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16208	Keratin_2_head	2 → 102	Keratin type II head	Family
  PF00038	Filament	105 → 416	Intermediate filament protein	Coiled-coil

• Tissue specificity: TISSUE SPECIFICITY: Synthesis begins slightly higher in the hair shaft than HB1 and HB3 and continues much farther up, ending in the keratogeneous zone. {ECO:0000269|PubMed:9084137}.
• Sequence:

  MTCGSYCGGRAFSCISACGPRPGRCCITAAPYRGISCYRGLTGGFGSHSVCGGFRAGSCG
  RSFGYRSGGVCGPSPPCITTVSVNESLLTPLNLEIDPNAQCVKQEEKEQIKSLNSRFAAF
  IDKVRFLEQQNKLLETKLQFYQNRECCQSNLEPLFEGYIETLRREAECVEADSGRLASEL
  NHVQEVLEGYKKKYEEEVSLRATAENEFVALKKDVDCAYLRKSDLEANVEALIQEIDFLR
  RLYEEEIRVLQSHISDTSVVVKLDNSRDLNMDCIIAEIKAQYDDIVTRSRAEAESWYRSK
  CEEMKATVIRHGETLRRTKEEINELNRMIQRLTAEVENAKCQNSKLEAAVAQSEQQGEAA
  LSDARCKLAELEGALQKAKQDMACLIREYQEVMNSKLGLDIEIATYRRLLEGEEQRLCEG
  VGSVNVCVSSSRGGVVCGDLCASTTAPVVSTRVSSVPSNSNVVVGTTNACAPSARVGVCG
  GSCKRC

• Sequence length: 486

Pathways

Reactome:

Keratinization
Formation of the cornified envelope

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Monilethrix	Pathogenic; Likely pathogenic	rs121909129, rs121909130, rs60687604, rs61091894, rs60612575	RCV000008048 RCV000008049 RCV000008050 RCV000008051 RCV000008052 RCV000008053	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Monilethrix-1	Likely pathogenic	rs60687604	RCV005867730	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KRT86-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acoustic Neuroma	Acoustic Neuroma	BEFREE	30570604		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	33482905	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystrophia unguium	Nail dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratosis pilaris	Keratosis pilaris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Monilethrix	Monilethrix	UNIPROT_DG	10469314, 10504448, 10594761, 25557232, 9402962		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Monilethrix	Monilethrix	BEFREE	15050877, 22670615, 23981620, 25557232, 25809918		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Monilethrix	Monilethrix	ORPHANET_DG	22670615, 9241275		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Monilethrix	Monilethrix	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Monilethrix	Monilethrix	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9	Nail Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nail dysplasia	Nail dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Perifollicular hyperkeratosis	Perifollicular hyperkeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Phrynoderma	Phrynoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	HPO_DG			★☆☆☆☆ Found in Text Mining only