• Gene id: 3890

Gene Summary

• Gene Symbol: KRT84   Gene   UCSC   Ensembl
• Aliases: HB4, KRTHB4
• Gene name: keratin 84
• Alternate names: keratin, type II cuticular Hb4, K84, hard keratin, type II, 4, keratin 84, type II, keratin, hair, basic, 4, type II hair keratin 4, type II hair keratin Hb4, type-II keratin Kb24,
• Gene location: 12q13.13 (38926416: 38953105)     Exons: 5     NC_000020.11
• Gene summary(Entrez): 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
• OMIM: 602766

Protein Summary

• Protein general information: Q9NSB2  
  • Name: Keratin, type II cuticular Hb4 (Keratin 84) (K84) (Type II hair keratin Hb4) (Type II keratin Kb24)
  • Length: 600  
  • Mass: 64842
  • Tissue specificity: Expressed in the hair follicles. {ECO
• Sequence:

  MSCRSYRVSSGHRVGNFSSCSAMTPQNLNRFRANSVSCWSGPGFRGLGSFGSRSVITFGSYSPRIAAVGSRPIHC
  GVRFGAGCGMGFGDGRGVGLGPRADSCVGLGFGAGSGIGYGFGGPGFGYRVGGVGVPAAPSITAVTVNKSLLTPL
  NLEIDPNAQRVKKDEKEQIKTLNNKFASFIDKVRFLEQQNKLLETKWSFLQEQKCIRSNLEPLFESYITNLRRQL
  EVLVSDQARLQAERNHLQDVLEGFKKKYEEEVVCRANAENEFVALKKDVDAAFMNKSDLEANVDTLTQEIDFLKT
  LYMEEIQLLQSHISETSVIVKMDNSRDLNLDGIIAEVKAQYEEVARRSRADAEAWYQTKYEEMQVTAGQHCDNLR
  NIRNEINELTRLIQRLKAEIEHAKAQRAKLEAAVAEAEQQGEATLSDAKCKLADLECALQQAKQDMARQLCEYQE
  LMNAKLGLDIEIATYRRLLEGEESRLCEGVGPVNISVSSSRGGLVCGPEPLVAGSTLSRGGVTFSGSSSVCATSG
  VLASCGPSLGGARVAPATGDLLSTGTRSGSMLISEACVPSVPCPLPTQGGFSSCSGGRSSSVRFVSTTTSCRTKY

• Structural information:
  • Protein Domains: (165..47-)
    (/note="IF-rod)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01188"-)
  • Interpro: IPR018039  IPR039008  IPR042180  IPR032444  IPR003054  
  • Prosite: PS00226 PS51842
  • STRING: ENSP00000257951
• Other Databases: GeneCards:  KRT84  Malacards:  KRT84

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045095	keratin filament	IEA	cellular component
GO:0005882	intermediate filament	IEA	cellular component
GO:0005882	intermediate filament	IEA	cellular component
GO:0031424	keratinization	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0070268	cornification	TAS	biological process
GO:0045616	regulation of keratinocyte differentiation	IEA	biological process
GO:0030280	structural constituent of skin epidermis	IEA	molecular function
GO:0045111	intermediate filament cytoskeleton	IEA	cellular component
GO:0007010	cytoskeleton organization	IEA	biological process
GO:0045095	keratin filament	IDA	cellular component
GO:0005200	structural constituent of cytoskeleton	NAS	molecular function
GO:0001942	hair follicle development	NAS	biological process
GO:0035878	nail development	NAS	biological process
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq