KRT83 (keratin 83)

Gene

• Entrez ID: 3889
• Gene name: Keratin 83
• Gene symbol: KRT83
• Synonyms (NCBI Gene): EKVP5, HB3, Hb-3, KRTHB3, MNLIX, MNLIX3
• Chromosome: 12
• Chromosome location: 12q13.13
• Summary: The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs57802288	C>A,T	Not-provided, likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs753293188	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs786205480	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1438087533	C>T	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2027680	hsa-miR-138	CLIP-seq
MIRT2027681	hsa-miR-4456	CLIP-seq
MIRT2027682	hsa-miR-541	CLIP-seq
MIRT2027683	hsa-miR-654-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 29892012, 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:0008544	Process	Epidermis development	TAS	9084137
GO:0030280	Function	Structural constituent of skin epidermis	IBA
GO:0031424	Process	Keratinization	IBA
GO:0042633	Process	Hair cycle	IDA	21916889
GO:0045095	Component	Keratin filament	IBA
GO:0045095	Component	Keratin filament	IEA
GO:0045109	Process	Intermediate filament organization	IBA

Other IDs

• MIM: 602765
• HGNC: 6460
• e!Ensembl: ENSG00000170523

Protein

• UniProt ID: P78385
• Protein name: Keratin, type II cuticular Hb3 (Hair keratin K2.10) (Keratin-83) (K83) (Type II hair keratin Hb3) (Type-II keratin Kb23)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16208	Keratin_2_head	3 → 107	Keratin type II head	Family
  PF00038	Filament	110 → 421	Intermediate filament protein	Coiled-coil

• Tissue specificity: TISSUE SPECIFICITY: Synthesis begins in the cortex 10-15 cell layers above the apex of the dermal papilla and ends abruptly in the middle of the cortex. {ECO:0000269|PubMed:9084137}.
• Sequence:

  MTCGFNSIGCGFRPGNFSCVSACGPRPSRCCITAAPYRGISCYRGLTGGFGSHSVCGGFR
  AGSCGRSFGYRSGGVCGPSPPCITTVSVNESLLTPLNLEIDPNAQCVKQEEKEQIKSLNS
  RFAAFIDKVRFLEQQNKLLETKLQFYQNRECCQSNLEPLFAGYIETLRREAECVEADSGR
  LASELNHVQEVLEGYKKKYEEEVALRATAENEFVALKKDVDCAYLRKSDLEANVEALIQE
  IDFLRRLYEEEIRILQSHISDTSVVVKLDNSRDLNMDCIVAEIKAQYDDIATRSRAEAES
  WYRSKCEEMKATVIRHGETLRRTKEEINELNRMIQRLTAEVENAKCQNSKLEAAVAQSEQ
  QGEAALSDARCKLAELEGALQKAKQDMACLIREYQEVMNSKLGLDIEIATYRRLLEGEEQ
  RLCEGVEAVNVCVSSSRGGVVCGDLCVSGSRPVTGSVCSAPCNGNLVVSTGLCKPCGQLN
  TTCGGGSCGQGRH

• Sequence length: 493

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	Likely pathogenic	rs57802288	RCV000007239	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Monilethrix-3	Likely pathogenic; Pathogenic	rs57802288, rs1438087533	RCV005252102 RCV005252106	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ERYTHROKERATODERMIA VARIABILIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Erythrokeratodermia variabilis et progressiva 5	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar ClinVar, Disgenet, HPO ClinVar, Disgenet, HPO ClinVar, Disgenet, HPO	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
KRT83-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Monilethrix-1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	19960375	Associate	★☆☆☆☆ Found in Text Mining only
Dystrophia unguium	Nail dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Erythrokeratodermia variabilis	Erythrokeratodermia Variabilis	BEFREE	27965375		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Erythrokeratodermia variabilis	Erythrokeratodermia Variabilis	ORPHANET_DG	27965375		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	27655710	Associate	★☆☆☆☆ 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
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratosis pilaris	Keratosis pilaris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	28777004	Associate	★☆☆☆☆ Found in Text Mining only
Monilethrix	Monilethrix	UNIPROT_DG	15744029, 25557232		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Monilethrix	Monilethrix	CLINVAR_DG	15744029		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Monilethrix	Monilethrix	ORPHANET_DG	15744029		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Monilethrix	Monilethrix	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Monilethrix	Monilethrix	BEFREE	23610050, 25557232		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Monilethrix	Monilethrix	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple Sclerosis	Multiple sclerosis	Pubtator	24615106	Stimulate	★☆☆☆☆ Found in Text Mining only
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
Palmoplantar Keratosis	Palmoplantar Keratosis	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
Progressive symmetric erythrokeratodermia	Progressive Symmetric Erythrokeratodermia	Orphanet			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	21483740	Associate	★☆☆☆☆ Found in Text Mining only