KRT9 (keratin 9)

Gene

• Entrez ID: 3857
• Gene name: Keratin 9
• Gene symbol: KRT9
• Synonyms (NCBI Gene): CK-9, EPPK, EPPK1, K9
• Chromosome: 17
• Chromosome location: 17q21.2
• Summary: This gene encodes the type I keratin 9, an intermediate filament chain expressed only in the terminally differentiated epidermis of palms and soles. Mutations in this gene cause epidermolytic palmoplantar keratoderma. [provided by RefSeq, Jul 2008]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28940896	G>A,C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs56707768	T>A,C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs57019720	C>T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs57536312	A>T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs57758262	C>G,T	Uncertain-significance, pathogenic, not-provided	Missense variant, coding sequence variant
rs58597584	T>C,G	Pathogenic	Missense variant, coding sequence variant
rs59296273	T>A,G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs59510579	A>C,G,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs59616921	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs59878153	T>G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs61157095	A>G	Pathogenic, not-provided	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2027697	hsa-miR-3688-3p	CLIP-seq
MIRT2027698	hsa-miR-3978	CLIP-seq
MIRT2259032	hsa-miR-3663-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002009	Process	Morphogenesis of an epithelium	IBA
GO:0005198	Function	Structural molecule activity	IEA
GO:0005200	Function	Structural constituent of cytoskeleton	TAS	8647270
GO:0005615	Component	Extracellular space	HDA	22664934, 23580065
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IBA
GO:0005882	Component	Intermediate filament	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0008544	Process	Epidermis development	TAS	8647270
GO:0016020	Component	Membrane	HDA	19946888
GO:0030280	Function	Structural constituent of skin epidermis	IBA
GO:0030855	Process	Epithelial cell differentiation	IBA
GO:0043588	Process	Skin development	IDA	7507869
GO:0045095	Component	Keratin filament	IBA
GO:0045109	Process	Intermediate filament organization	IBA
GO:0045109	Process	Intermediate filament organization	IMP	10218578
GO:0070062	Component	Extracellular exosome	HDA	11487543, 19199708, 23533145

Other IDs

• MIM: 607606
• HGNC: 6447
• e!Ensembl: ENSG00000171403

Protein

• UniProt ID: P35527
• Protein name: Keratin, type I cytoskeletal 9 (Cytokeratin-9) (CK-9) (Keratin-9) (K9)
• Protein function: May serve an important special function either in the mature palmar and plantar skin tissue or in the morphogenetic program of the formation of these tissues. Plays a role in keratin filament assembly. {ECO:0000269|PubMed:10218578, ECO:0000269|P
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00038	Filament	152 → 464	Intermediate filament protein	Coiled-coil

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the terminally differentiated epidermis of palms and soles. {ECO:0000269|PubMed:7507869}.
• Sequence:

  MSCRQFSSSYLSRSGGGGGGGLGSGGSIRSSYSRFSSSGGGGGGGRFSSSSGYGGGSSRV
  CGRGGGGSFGYSYGGGSGGGFSASSLGGGFGGGSRGFGGASGGGYSSSGGFGGGFGGGSG
  GGFGGGYGSGFGGFGGFGGGAGGGDGGILTANEKSTMQELNSRLASYLDKVQALEEANND
  LENKIQDWYDKKGPAAIQKNYSPYYNTIDDLKDQIVDLTVGNNKTLLDIDNTRMTLDDFR
  IKFEMEQNLRQGVDADINGLRQVLDNLTMEKSDLEMQYETLQEELMALKKNHKEEMSQLT
  GQNSGDVNVEINVAPGKDLTKTLNDMRQEYEQLIAKNRKDIENQYETQITQIEHEVSSSG
  QEVQSSAKEVTQLRHGVQELEIELQSQLSKKAALEKSLEDTKNRYCGQLQMIQEQISNLE
  AQITDVRQEIECQNQEYSLLLSIKMRLEKEIETYHNLLEGGQEDFESSGAGKIGLGGRGG
  SGGSYGRGSRGGSGGSYGGGGSGGGYGGGSGSRGGSGGSYGGGSGSGGGSGGGYGGGSGG
  GHSGGSGGGHSGGSGGNYGGGSGSGGGSGGGYGGGSGSRGGSGGSHGGGSGFGGESGGSY
  GGGEEASGSGGGYGGGSGKSSHS

• Sequence length: 623

Pathways

KEGG:

Estrogen signaling pathway
Staphylococcus aureus infection

Reactome:

Keratinization
Formation of the cornified envelope

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Epidermolytic palmoplantar keratoderma, 1	Likely pathogenic; Pathogenic	rs59616921, rs59878153, rs59296273, rs57536312, rs57758262, rs58597584, rs56707768, rs61157095, rs28940896, rs57019720	RCV004562186 RCV004562187 RCV004562188 RCV004562189 RCV004562190 RCV004562191 RCV004562192 RCV004562193 RCV004562194 RCV004562196 RCV004562197 RCV004562198 RCV004560480	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Palmoplantar keratoderma	Likely pathogenic; Pathogenic	rs59616921	RCV000626629	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Palmoplantar keratoderma, epidermolytic	Likely pathogenic; Pathogenic	rs2144572252, rs59616921, rs57536312, rs57758262	RCV002251120 RCV000003132 RCV000003136 RCV000003137	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Palmoplantar keratodermas	Likely pathogenic; Pathogenic	rs57758262	RCV006273014	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
EPIDERMOLYTIC PALMOPLANTAR KERATODERMA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KRT9-related disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	26973255	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	29802537		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	29802537		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	23702732	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	7511021		★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	BEFREE	21715251		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	27105735		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	28403359	Inhibit	★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa	Epidermolysis bullosa	Pubtator	19874353, 7528239	Associate	★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Simplex	Epidermolysis Bullosa Simplex	BEFREE	9023700		★☆☆☆☆ Found in Text Mining only
Epidermolytic palmoplantar keratoderma	Epidermolytic palmoplantar keratoderma	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epidermolytic palmoplantar keratoderma of Vorner	Epidermolytic Palmoplantar Keratoderma Of Vorner	ORPHANET_DG	12072061, 12192490, 23397986, 24899405		★☆☆☆☆ Found in Text Mining only
Epidermolytic palmoplantar keratoderma Vorner type	Epidermolytic palmoplantar keratoderma of Vorner	ORPHANET_DG	12072061, 12192490, 23397986, 24899405		★☆☆☆☆ Found in Text Mining only
Epidermolytic palmoplantar keratoderma Vorner type	Epidermolytic palmoplantar keratoderma of Vorner	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	BEFREE	11346340, 19874353		★☆☆☆☆ Found in Text Mining only
Hyperkeratosis Epidermolytic	Epidermolytic hyperkeratosis	Pubtator	10536990, 7523529, 7532198, 9204965	Associate	★☆☆☆☆ Found in Text Mining only
Hyperkeratosis, Epidermolytic	Hyperkeratosis, Epidermolytic	BEFREE	15214894, 7523529, 9204965		★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	23702732	Associate	★☆☆☆☆ Found in Text Mining only
Keratoderma Palmoplantar Epidermolytic	Epidermolytic palmoplantar keratoderma	Pubtator	19874353, 22262370, 25299193, 31074163, 7523529, 7532198, 7532199, 9204965, 9833037, 9856842	Associate	★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	BEFREE	12192490, 19106041, 31192455, 7516304, 7531539, 8666405, 9023700		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar, Epidermolytic	Epidermolytic palmoplantar keratoderma	BEFREE	10233272, 10570560, 10632938, 10844507, 12046815, 12072061, 12532041, 12838553, 1385292, 14517588, 14675368, 15099359, 15115518, 15214894, 15605275, 17362238, 18573708, 19106041, 19874353, 21715251, 22262370, 22402445, 23278372, 23397986, 24862219, 25299193, 27726289, 27864007, 29719290, 30195761, 30666268, 31074163, 31525823, 7512862, 7516304, 7531539, 7532198, 7532199, 9204965, 9833037		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar, Epidermolytic	Epidermolytic palmoplantar keratoderma	UNIPROT_DG	10632938, 10844507, 12072061, 12192490, 12838553, 12926810, 14675368, 15099359, 15115518, 15605275, 16911293, 16961539, 19874353, 20964665, 21715251, 7511021, 7512862, 7516304, 7523529, 7532199, 8647270, 9204965, 9856842		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar, Epidermolytic	Epidermolytic palmoplantar keratoderma	ORPHANET_DG	12072061, 12192490, 23397986, 24899405		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar, Epidermolytic	Epidermolytic palmoplantar keratoderma	GENOMICS_ENGLAND_DG	21410681, 7532199		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar, Epidermolytic	Epidermolytic palmoplantar keratoderma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar, Epidermolytic	Epidermolytic palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar, Epidermolytic	Epidermolytic palmoplantar keratoderma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Keratosis of Greither	Keratosis Of Greither	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	7511021		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	29802537		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	34757537	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia gravis	Pubtator	35802752	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	7511021		★☆☆☆☆ Found in Text Mining only
Pachyonychia Congenita	Pachyonychia Congenita	BEFREE	9023700		★☆☆☆☆ Found in Text Mining only
PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, WITH KNUCKLE PADS (disorder)	Epidermolytic palmoplantar keratoderma, with knuckle pads	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Palmoplantar Keratosis	Palmoplantar Keratosis	LHGDN	12532041, 14675368, 16043929, 18573708		★☆☆☆☆ Found in Text Mining only
Palmoplantar Keratosis	Palmoplantar Keratosis	BEFREE	9720175		★☆☆☆☆ Found in Text Mining only
Palmoplantar Keratosis	Palmoplantar Keratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	23702732		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	29802537	Associate	★☆☆☆☆ Found in Text Mining only