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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3857
Gene name	Keratin 9
Gene symbol	KRT9
Synonyms (NCBI Gene)	CK-9EPPKEPPK1K9
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]

Show/Hide all (11)

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

Show/Hide all (3)

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

Show/Hide all (19)

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

MIM	HGNC	e!Ensembl
607606	6447	ENSG00000171403

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

Interactions

View interactions

	KEGG		Reactome
	Estrogen signaling pathway Staphylococcus aureus infection		Keratinization Formation of the cornified envelope

131

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
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
Palmoplantar keratoderma	Likely pathogenic; Pathogenic	rs59616921	RCV000626629
Palmoplantar keratoderma, epidermolytic	Likely pathogenic; Pathogenic	rs2144572252, rs59616921, rs57536312, rs57758262	RCV002251120 RCV000003132 RCV000003136 RCV000003137
Palmoplantar keratodermas	Likely pathogenic; Pathogenic	rs57758262	RCV006273014

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
KRT9-related disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	rs1011329757, rs369406178, rs1301086987, rs1376670648, rs761668776, rs539408263, rs1907085414, rs148867398, rs116616468, rs77688767, rs145501803, rs116216460	RCV003393152 RCV003904142 RCV003904672 RCV003903998 RCV003944107 RCV003939594 RCV003976348 RCV003912338 RCV004755879 RCV004755758 RCV003928727 RCV003918718
Prostate cancer	Uncertain significance	rs193920878	RCV000148996

Show/Hide Text Mining Associations (18)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
AA amyloidosis	Associate	32861330
Alzheimer Disease	Associate	26973255
Carcinoma Squamous Cell	Associate	23702732
Diabetes Mellitus	Inhibit	28403359
Epidermolysis Bullosa	Associate	19874353, 7528239
Femur Head Necrosis	Inhibit	29207081
Hairy palms and soles	Associate	7532198
Hyperkeratosis Epidermolytic	Associate	10536990, 7523529, 7532198, 9204965
Hyperplasia	Associate	23702732
Keratoderma Palmoplantar	Associate	10536990, 36076978, 7532199, 9833037
Keratoderma Palmoplantar Epidermolytic	Associate	19874353, 22262370, 25299193, 31074163, 7523529, 7532198, 7532199, 9204965, 9833037, 9856842
Melanoma	Associate	34757537
Multiple Pterygium Syndrome Autosomal Dominant	Associate	10536990, 19874353
Myasthenia Gravis	Associate	35802752
Neoplasms	Associate	22073364
Porokeratosis punctata palmaris et plantaris	Associate	7528239
Thymoma	Associate	35802752
Urinary Bladder Neoplasms	Associate	29802537

KRT9 (keratin 9)