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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	3891
Gene name Gene Name - the full gene name approved by the HGNC.	Keratin 85
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	KRT85
Synonyms (NCBI Gene) Gene synonyms aliases	ECTD4, HB5, Hb-5, K85, KRTHB5, hHb5
Disease Acronyms (UniProt) Disease acronyms from UniProt database	ECTD4
Chromosome Chromosome number	12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	12q13.13
Summary Summary of gene provided in NCBI Entrez Gene.	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	TAS
GO:0008544	Process	Epidermis development	TAS	9084137
GO:0031424	Process	Keratinization	TAS
GO:0045095	Component	Keratin filament	IEA
GO:0070268	Process	Cornification	TAS

MIM	HGNC	e!Ensembl
602767	6462	ENSG00000135443

Protein

UniProt ID

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

Show/Hide Causal Diseases (1)

Disease term	Disease name	dbSNP ID	References
Causal
Ectodermal dysplasia	Ectodermal Dysplasia, Pure Hair-Nail Type, Pure hair and nail ectodermal dysplasia	rs74315309, rs121908116, rs1558814967, rs121908450, rs121908452, rs121908453, rs797044435, rs121908454, rs121908455, rs121908456, rs797044436, rs797044437, rs137853324, rs137853325, rs137853326 View all (42 more)	16525032, 19865094

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Ectodermal Dysplasia	ectodermal dysplasia 4, hair/nail type			GenCC

Show/Hide Text Mining Associations (5)

Disease Name	Relationship Type	References
Associations from Text Mining
Colorectal Neoplasms	Associate	34911835
Ectodermal Dysplasia	Associate	16525032
Ectodermal Dysplasia Pure Hair Nail Type	Associate	16525032, 33605551
Neoplasms	Associate	19893615
Scleritis	Associate	36930145

KRT85 (keratin 85)