Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3891
Gene name	Keratin 85
Gene symbol	KRT85
Synonyms (NCBI Gene)	ECTD4HB5Hb-5K85KRTHB5hHb5
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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1565766888	AG>-	Pathogenic	Frameshift variant, coding sequence variant

Show/Hide all (35)

miRTarBase ID	miRNA	Experiments	Reference
MIRT005174	hsa-miR-30a-5p	pSILAC	18668040
MIRT1101878	hsa-miR-1182	CLIP-seq
MIRT1101879	hsa-miR-1909	CLIP-seq
MIRT1101880	hsa-miR-193a-5p	CLIP-seq
MIRT1101881	hsa-miR-3124-3p	CLIP-seq
MIRT1101882	hsa-miR-3137	CLIP-seq
MIRT1101883	hsa-miR-3914	CLIP-seq
MIRT1101884	hsa-miR-4446-5p	CLIP-seq
MIRT1101885	hsa-miR-4755-5p	CLIP-seq
MIRT1101886	hsa-miR-4764-3p	CLIP-seq
MIRT1101887	hsa-miR-4795-5p	CLIP-seq
MIRT1101888	hsa-miR-4804-3p	CLIP-seq
MIRT1101889	hsa-miR-618	CLIP-seq
MIRT1101890	hsa-miR-642a	CLIP-seq
MIRT1101891	hsa-miR-939	CLIP-seq
MIRT2027687	hsa-miR-125a-5p	CLIP-seq
MIRT2027688	hsa-miR-125b	CLIP-seq
MIRT2027689	hsa-miR-4319	CLIP-seq
MIRT2027690	hsa-miR-4324	CLIP-seq
MIRT2027691	hsa-miR-4487	CLIP-seq
MIRT2027692	hsa-miR-4731-5p	CLIP-seq
MIRT2027693	hsa-miR-4732-3p	CLIP-seq
MIRT2027694	hsa-miR-670	CLIP-seq
MIRT1101891	hsa-miR-939	CLIP-seq
MIRT2259016	hsa-miR-1207-5p	CLIP-seq
MIRT2259017	hsa-miR-3665	CLIP-seq
MIRT2259018	hsa-miR-4505	CLIP-seq
MIRT2259019	hsa-miR-4514	CLIP-seq
MIRT2259020	hsa-miR-4692	CLIP-seq
MIRT2259021	hsa-miR-4736	CLIP-seq
MIRT2259022	hsa-miR-4763-3p	CLIP-seq
MIRT2259023	hsa-miR-636	CLIP-seq
MIRT2259024	hsa-miR-671-5p	CLIP-seq
MIRT2259025	hsa-miR-764	CLIP-seq
MIRT2259026	hsa-miR-940	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005198	Function	Structural molecule activity	TAS	9084137
GO:0005515	Function	Protein binding	IPI	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:0045095	Component	Keratin filament	IBA
GO:0045095	Component	Keratin filament	IEA
GO:0045109	Process	Intermediate filament organization	IBA

MIM	HGNC	e!Ensembl
602767	6462	ENSG00000135443

P78386

Protein name

Keratin, type II cuticular Hb5 (Hair keratin K2.12) (Keratin-85) (K85) (Type II hair keratin Hb5) (Type-II keratin Kb25)

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16208	Keratin_2_head	61 → 119	Keratin type II head	Family
PF00038	Filament	122 → 433	Intermediate filament protein	Coiled-coil

Tissue specificity

TISSUE SPECIFICITY: Synthesis occurs immediately above a small population of matrix cells at the base of the hair bulb and the trichocytes lining the dermal papilla and extends upward through the matrix and ends in the lower part of the cortex of the hair

Sequence

MSCRSYRISSGCGVTRNFSSCSAVAPKTGNRCCISAAPYRGVSCYRGLTGFGSRSLCNLG
SCGPRIAVGGFRAGSCGRSFGYRSGGVCGPSPPCITTVSVNESLLTPLNLEIDPNAQCVK
QEEKEQIKSLNSRFAAFIDKVRFLEQQNKLLETKWQFYQNQRCCESNLEPLFSGYIETLR
REAECVEADSGRLASELNHVQEVLEGYKKKYEEEVALRATAENEFVVLKKDVDCAYLRKS
DLEANVEALVEESSFLRRLYEEEIRVLQAHISDTSVIVKMDNSRDLNMDCIIAEIKAQYD
DVASRSRAEAESWYRSKCEEMKATVIRHGETLRRTKEEINELNRMIQRLTAEIENAKCQR
AKLEAAVAEAEQQGEAALSDARCKLAELEGALQKAKQDMACLLKEYQEVMNSKLGLDIEI
ATYRRLLEGEEHRLCEGVGSVNVCVSSSRGGVSCGGLSYSTTPGRQITSGPSAIGGSITV
VAPDSCAPCQPRSSSFSCGSSRSVRFA

Sequence length

507

Interactions

View interactions

	Reactome
			Keratinization Formation of the cornified envelope

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)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Ectodermal dysplasia 4, hair/nail type	Pathogenic	rs1565766888	RCV000088680	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
KRT85-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (18)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Absent eyebrow	Absent eyebrow	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34911835	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital onychodystrophy	Congenital onychodystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystrophia unguium	Nail dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal Dysplasia	BEFREE	16525032, 20409997		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal Dysplasia	LHGDN	16525032		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	16525032	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia, Pure Hair-Nail Type	Ectodermal Dysplasia	UNIPROT_DG	16525032		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia, Pure Hair-Nail Type	Ectodermal Dysplasia	ORPHANET_DG	16525032		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia, Pure Hair-Nail Type	Ectodermal Dysplasia	GENOMICS_ENGLAND_DG	16525032, 19865094		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia, Pure Hair-Nail Type	Ectodermal Dysplasia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia, Pure Hair-Nail Type	Ectodermal Dysplasia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9	Nail Diseases	BEFREE	20409997		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nail dysplasia	Nail dysplasia	BEFREE	20409997		★★★★★ ★☆☆☆☆ Found in Text Mining only
Onycholysis	Onycholysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pure hair and nail ectodermal dysplasia	Ectodermal dysplasia	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Temporal hypotrichosis	Temporal hypotrichosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

KRT85 (keratin 85)