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Aliases for KRT85 Gene

Aliases for KRT85 Gene

  • Keratin 85 2 3 5
  • 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
  • K85 3 4
  • Keratin, Type II Cuticular Hb5 3
  • Hard Keratin, Type II, 5 3
  • Hard Keratin Type II 2
  • Keratin-85 4
  • ECTD4 3
  • Hb-5 3
  • 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. Among its related pathways are Developmental Biology. 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 UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRT85 Gene

Genomics for KRT85 Gene

Regulatory Elements for KRT85 Gene

Enhancers for KRT85 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12F052371 0.9 Ensembl ENCODE 0.8 -4.1 -4061 1.0 ZNF664 KRT86 KRT85 ENSG00000258253
GH12F052358 1.3 Ensembl ENCODE 0.4 +8.5 8475 1.1 CTCF PKNOX1 IKZF1 KRT86 KRT84 KRT83 KRT6C KRT78 KRT4 KRT85 KRT89P
GH12F052372 1 ENCODE 0.4 -5.2 -5223 0.2 GTF2F1 TBP CTCF CHD4 CEBPG RAD21 RFX5 ZFHX2 ZBTB48 SCRT2 KRT85 ENSG00000258253
GH12F052351 0.2 ENCODE 0.3 +15.7 15674 0.2 KRT83 KRT84 KRT86 KRT81 KRT7 KRT2 LOC283335 KRT89P KRT85
GH12F052348 0.2 ENCODE 0.3 +18.9 18901 0.0 KRT89P KRT85
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around KRT85 on UCSC Golden Path with GeneCards custom track

Genomic Location for KRT85 Gene

Chromosome:
12
Start:
52,360,006 bp from pter
End:
52,367,525 bp from pter
Size:
7,520 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

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRT85 Gene

Domains & Families for KRT85 Gene

Gene Families for KRT85 Gene

Suggested Antigen Peptide Sequences for KRT85 Gene

GenScript: Design optimal peptide antigens:

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

Gene Ontology (GO) - Molecular Function for KRT85 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IEA --
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

Animal Model Products

miRNA for KRT85 Gene

miRTarBase miRNAs that target KRT85

Inhibitory RNA Products

Flow Cytometry Products

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
Jensen Localization Image for KRT85 Gene COMPARTMENTS Subcellular localization image for KRT85 gene
Compartment Confidence
extracellular 5
cytosol 3
cytoskeleton 2
mitochondrion 2
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for KRT85 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 23580065
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 for KRT85 Gene

Pathways & Interactions for KRT85 Gene

SuperPathways for KRT85 Gene

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

Pathways by source for KRT85 Gene

1 Reactome pathway 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
genes like me logo Genes that share ontologies with KRT85: view

No data available for SIGNOR curated interactions for KRT85 Gene

Transcripts for KRT85 Gene

mRNA/cDNA for KRT85 Gene

(2) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(2) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KRT85 Gene

Keratin 85:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for KRT85 Gene

GeneLoc Exon Structure for
KRT85
ECgene alternative splicing isoforms 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, PaxDb, and MOPED for KRT85 Gene



NURSA nuclear receptor signaling pathways regulating expression of KRT85 Gene:

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.
genes like me logo Genes that share expression patterns with KRT85: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners 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 34 35
  • 99.34 (n)
cow
(Bos Taurus)
Mammalia KRT85 35
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KRT85 34 35
  • 91.72 (n)
rat
(Rattus norvegicus)
Mammalia Krt85 34
  • 89.15 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KRT85 35
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 5430421N21Rik 35
  • 82 (a)
ManyToMany
Species where no ortholog for KRT85 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for KRT85 Gene

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 from dbSNP and Humsavar for KRT85 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs61630004 Ectodermal dysplasia 4, hair/nail type (ECTD4) [MIM:602032], Pathogenic 52,367,173(-) CGGAC(A/G)CAGCT reference, missense
rs1059837 -- 52,360,551(-) AGGGA(C/T)AAGAC utr-variant-3-prime
rs10876280 -- 52,363,129(+) ACTGG(A/C)TTTTC intron-variant
rs11170101 -- 52,365,719(+) AATTA(C/T)CACAG intron-variant, upstream-variant-2KB
rs111948729 -- 52,367,768(+) CCACA(C/T)TTGGA upstream-variant-2KB

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)

Relevant External Links for KRT85 Gene

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

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

Disorders for KRT85 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KRT85 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
ectodermal dysplasia 4, hair/nail type
  • ectd4
- 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 mutations affecting the gene represented in this entry.

Relevant External Links for KRT85

Genetic Association Database (GAD)
KRT85
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 M.A. … Schweizer J. (Differentiation 1997) 2 3 4 22 64
  2. New consensus nomenclature for mammalian keratins. (PMID: 16831889) Schweizer J. … Wright M.W. (J. Cell Biol. 2006) 2 3 64
  3. 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. (J. Med. Genet. 2006) 3 4 64
  4. Characterization of a 300 kbp region of human DNA containing the type II hair keratin. (PMID: 10692104) Rogers M.A. … Schweizer J. (J. Invest. Dermatol. 2000) 3 4 64
  5. Identification of 12-lipoxygenase interaction with cellular proteins by yeast two-hybrid screening. (PMID: 10727209) Tang K. … Honn K.V. (Biochemistry 2000) 3 22 64

Products for KRT85 Gene

Sources for KRT85 Gene

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