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 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB... See more...

Aliases for KRT85 Gene

Aliases for KRT85 Gene

  • Keratin 85 2 3 5
  • Keratin, Type II Cuticular Hb5 3 4
  • Type II Hair Keratin Hb5 3 4
  • Keratin, Hair, Basic, 5 2 3
  • Type-II Keratin Kb25 3 4
  • Keratin 85, Type II 2 3
  • Hair Keratin K2.12 3 4
  • KRTHB5 3 4
  • Hb-5 2 3
  • K85 3 4
  • Hard Keratin, Type II, 5 3
  • Hard Keratin Type II 2
  • Keratin-85 4
  • ECTD4 3
  • KRT85 5
  • HHb5 3
  • HB5 3

External Ids for KRT85 Gene

Previous HGNC Symbols for KRT85 Gene

  • KRTHB5

Previous GeneCards Identifiers for KRT85 Gene

  • GC12M051041
  • GC12M052753
  • GC12M049797

Summaries for KRT85 Gene

Entrez Gene Summary for KRT85 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 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. [provided by RefSeq, Jul 2008]

GeneCards Summary for KRT85 Gene

KRT85 (Keratin 85) is a Protein Coding gene. Diseases associated with KRT85 include Ectodermal Dysplasia 4, Hair/Nail Type and Ectodermal Dysplasia. Among its related pathways are Developmental Biology and Keratinization. Gene Ontology (GO) annotations related to this gene include structural molecule activity. An important paralog of this gene is KRT86.

Gene Wiki entry for KRT85 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KRT85 Gene

Genomics for KRT85 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KRT85 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J052367 Promoter 0.4 EPDnew 250.7 0.0 -20 0.1 WT1 KRT85 HSALNG0091180 KRT84 ENSG00000257500
GH12J052029 Promoter/Enhancer 2.3 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 4.2 +335.5 335494 5.5 SP1 ZNF207 IKZF1 ZNF600 JUND ZNF580 ATF2 BRCA1 POLR2A ZIC2 HSALNG0091137 HSALNG0091138 RNU6-574P ATG101 NR4A1 KRT85 TAMALIN ACVR1B lnc-KRT80-8-002 lnc-KRT80-8-001
GH12J052371 Enhancer 0.9 Ensembl ENCODE 0.7 -4.2 -4220 3 ZNF654 CEBPA BRCA1 REST CEBPB DEK TRIM22 CTCF ZNF217 RAD21 HSALNG0091180 AAAS KRT86 LOC283335 KRT85 ENSG00000258253 KRT84 ENSG00000257500
GH12J052362 Enhancer 0.5 Ensembl 0.7 +4.9 4881 0.8 CTCF NFIB ZNF143 TRIM22 GTF2F1 KRT84 KRT86 KRT83 KRT6C KRT78 KRT4 KRT85 HSALNG0091178 ENSG00000257500
GH12J052327 Enhancer 1 Ensembl ENCODE 0.3 +39.6 39600 1.4 SP1 ZNF654 ZNF600 JUND ATF3 NFIC CEBPB DEK TRIM22 ZEB1 KRT83 KRT87P KRT86 KRT81 KRT7 KRT84 piR-38266 KRT89P KRT85
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KRT85 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KRT85

Top Transcription factor binding sites by QIAGEN in the KRT85 gene promoter:
  • AP-1
  • ATF-2
  • c-Fos
  • c-Jun
  • CRE-BP1
  • FosB
  • Fra-1
  • JunB
  • LCR-F1
  • YY1

Genomic Locations for KRT85 Gene

Latest Assembly
chr12:52,360,006-52,367,481
(GRCh38/hg38)
Size:
7,476 bases
Orientation:
Minus strand

Previous Assembly
chr12:52,753,790-52,761,265
(GRCh37/hg19 by Entrez Gene)
Size:
7,476 bases
Orientation:
Minus strand

chr12:52,753,790-52,761,265
(GRCh37/hg19 by Ensembl)
Size:
7,476 bases
Orientation:
Minus strand

Genomic View for KRT85 Gene

Genes around KRT85 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRT85 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRT85 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRT85 Gene

Proteins for KRT85 Gene

  • Protein details for KRT85 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P78386-KRT85_HUMAN
    Recommended name:
    Keratin, type II cuticular Hb5
    Protein Accession:
    P78386
    Secondary Accessions:
    • Q9NSB1

    Protein attributes for KRT85 Gene

    Size:
    507 amino acids
    Molecular mass:
    55802 Da
    Quaternary structure:
    • Heterotetramer of two type I and two type II keratins.
    Miscellaneous:
    • There are two types of hair/microfibrillar keratin, I (acidic) and II (neutral to basic).

neXtProt entry for KRT85 Gene

Post-translational modifications for KRT85 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KRT85 Gene

No data available for DME Specific Peptides for KRT85 Gene

Domains & Families for KRT85 Gene

Gene Families for KRT85 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for KRT85 Gene

InterPro:
Blocks:
  • Intermediate filament protein
  • Type II keratin signature

Suggested Antigen Peptide Sequences for KRT85 Gene

GenScript: Design optimal peptide antigens:
  • Type-II keratin Kb25 (KRT85_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P78386

UniProtKB/Swiss-Prot:

KRT85_HUMAN :
  • Belongs to the intermediate filament family.
Family:
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with KRT85: view

Function for KRT85 Gene

Phenotypes From GWAS Catalog for KRT85 Gene

Gene Ontology (GO) - Molecular Function for KRT85 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity TAS 9084137
GO:0005515 protein binding IPI 32296183
genes like me logo Genes that share ontologies with KRT85: view
genes like me logo Genes that share phenotypes with KRT85: view

Human Phenotype Ontology for KRT85 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

miRNA for KRT85 Gene

miRTarBase miRNAs that target KRT85

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRT85

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for KRT85 Gene

Localization for KRT85 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KRT85 gene
Compartment Confidence
extracellular 4
cytosol 4
cytoskeleton 3
mitochondrion 2
plasma membrane 1
nucleus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for KRT85 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space HDA 23580065
GO:0005829 cytosol TAS --
GO:0005882 intermediate filament IEA --
GO:0045095 keratin filament IEA --
genes like me logo Genes that share ontologies with KRT85: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for KRT85 Gene

Pathways & Interactions for KRT85 Gene

PathCards logo

SuperPathways for KRT85 Gene

SuperPathway Contained pathways
1 Developmental Biology
2 Keratinization
genes like me logo Genes that share pathways with KRT85: view

Pathways by source for KRT85 Gene

2 Reactome pathways for KRT85 Gene

Gene Ontology (GO) - Biological Process for KRT85 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008544 epidermis development TAS 9084137
GO:0031424 keratinization TAS --
GO:0070268 cornification TAS --
genes like me logo Genes that share ontologies with KRT85: view

No data available for SIGNOR curated interactions for KRT85 Gene

Drugs & Compounds for KRT85 Gene

No Compound Related Data Available

Transcripts for KRT85 Gene

mRNA/cDNA for KRT85 Gene

2 REFSEQ mRNAs :
2 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRT85

Alternative Splicing Database (ASD) splice patterns (SP) for KRT85 Gene

No ASD Table

Relevant External Links for KRT85 Gene

GeneLoc Exon Structure for
KRT85

Expression for KRT85 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KRT85 Gene

mRNA differential expression in normal tissues according to GTEx for KRT85 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x41.5) and Skin - Sun Exposed (Lower leg) (x9.1).

Protein differential expression in normal tissues from HIPED for KRT85 Gene

This gene is overexpressed in Hair follicle (64.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KRT85 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KRT85

SOURCE GeneReport for Unigene cluster for KRT85 Gene:

Hs.182507

mRNA Expression by UniProt/SwissProt for KRT85 Gene:

P78386-KRT85_HUMAN
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 shaft.

Phenotype-based relationships between genes and organs from Gene ORGANizer for KRT85 Gene

Germ Layers:
  • ectoderm
Systems:
  • integumentary
Regions:
Head and neck:
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • skull
  • tooth
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • hair
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with KRT85: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and Evidence on tissue expression from TISSUES for KRT85 Gene

Orthologs for KRT85 Gene

This gene was present in the common ancestor of mammals.

Orthologs for KRT85 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KRT85 29 30
  • 99.34 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia KRT85 30
  • 92 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia KRT85 29 30
  • 91.72 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Krt85 29
  • 89.15 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia KRT85 30
  • 85 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia 5430421N21Rik 30
  • 82 (a)
ManyToMany
Species where no ortholog for KRT85 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for KRT85 Gene

ENSEMBL:
Gene Tree for KRT85 (if available)
TreeFam:
Gene Tree for KRT85 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KRT85: view image
Alliance of Genome Resources:
Additional Orthologs for KRT85

Paralogs for KRT85 Gene

Pseudogenes.org Pseudogenes for KRT85 Gene

genes like me logo Genes that share paralogs with KRT85: view

Variants for KRT85 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KRT85 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs140664015 Benign: not specified 52,367,369(-) C/G
NM_002283.4(KRT85):c.37G>C (p.Gly13Arg)
MISSENSE
rs1565766888 Pathogenic: Ectodermal dysplasia 4, hair/nail type 52,360,927(-) CAG/C
NM_002283.4(KRT85):c.1448_1449del (p.Pro483fs)
FRAMESHIFT
rs1592141626 Uncertain Significance: Ectodermal dysplasia 4, hair/nail type 52,363,374(-) A/G
NM_002283.4(KRT85):c.823T>C (p.Ser275Pro)
MISSENSE
rs61630004 Benign: Ectodermal dysplasia 4, hair/nail type; not specified; not provided. Ectodermal dysplasia 4, hair/nail type (ECTD4) [MIM:602032] 52,367,173(-) C/Tp.Arg78His
NM_002283.4(KRT85):c.233G>A (p.Arg78His)
MISSENSE
rs2852471 -- p.Trp155Leu

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KRT85 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for KRT85 Gene

Variant ID Type Subtype PubMed ID
dgv1503n100 CNV gain 25217958
dgv200n27 CNV gain 19166990
dgv2630n54 CNV gain 21841781
dgv29e180 CNV gain 20482838
dgv487e212 CNV gain 25503493
dgv70e55 CNV gain 17911159
dgv9e209 CNV duplication 24192839
esv27319 CNV gain+loss 19812545
esv2759899 CNV gain 17122850
esv2760832 CNV gain 21179565
esv29967 CNV gain 17803354
nsv516938 CNV gain+loss 19592680
nsv818917 CNV gain 17921354
nsv832410 CNV gain 17160897
nsv832411 CNV loss 17160897
nsv976618 CNV duplication 23825009

Variation tolerance for KRT85 Gene

Residual Variation Intolerance Score: 62% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.82; 67.07% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KRT85 Gene

Human Gene Mutation Database (HGMD)
KRT85
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRT85
Leiden Open Variation Database (LOVD)
KRT85

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRT85 Gene

Disorders for KRT85 Gene

MalaCards: The human disease database

(13) MalaCards diseases for KRT85 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
ectodermal dysplasia 4, hair/nail type
  • ectd4
ectodermal dysplasia
  • congenital ectodermal defect
ectodermal dysplasia 9, hair/nail type
  • ectd9
fetal adenoma
  • microfollicular adenoma
ectodermal dysplasia 7, hair/nail type
  • ectd7
- elite association - COSMIC cancer census association via MalaCards
Search KRT85 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KRT85_HUMAN
  • Ectodermal dysplasia 4, hair/nail type (ECTD4) [MIM:602032]: A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. ECTD4 is characterized by complete alopecia, hypotricosis and nail dystrophy in all digits. There is no evidence of any other abnormality. Inheritance can be autosomal dominant or recessive. {ECO:0000269 PubMed:16525032}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for KRT85

genes like me logo Genes that share disorders with KRT85: view

No data available for Genatlas for KRT85 Gene

Publications for KRT85 Gene

  1. Sequences and differential expression of three novel human type-II hair keratins. (PMID: 9084137) Rogers MA … Schweizer J (Differentiation; research in biological diversity 1997) 2 3 4 22
  2. A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type. (PMID: 16525032) Naeem M … Ahmad W (Journal of medical genetics 2006) 3 4 72
  3. Mutations in the keratin 85 (KRT85/hHb5) gene underlie pure hair and nail ectodermal dysplasia. (PMID: 19865094) Shimomura Y … Christiano AM (The Journal of investigative dermatology 2010) 3 72
  4. New consensus nomenclature for mammalian keratins. (PMID: 16831889) Schweizer J … Wright MW (The Journal of cell biology 2006) 2 3
  5. Identification of 12-lipoxygenase interaction with cellular proteins by yeast two-hybrid screening. (PMID: 10727209) Tang K … Honn KV (Biochemistry 2000) 3 22

Products for KRT85 Gene

Sources for KRT85 Gene