KRT10 (keratin 10)

Gene

• Entrez ID: 3858
• Gene name: Keratin 10
• Gene symbol: KRT10
• Synonyms (NCBI Gene): BCIE, BIE, CK10, EHK, EHK2, EHK2A, EHK2B, IHL, K10, KPP
• Chromosome: 17
• Chromosome location: 17q21.2
• Summary: This gene encodes a member of the type I (acidic) cytokeratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along wi

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023292	hsa-miR-122-5p	Proteomics	21750653
MIRT460670	hsa-miR-497-3p	PAR-CLIP	20371350
MIRT077072	hsa-miR-3609	PAR-CLIP	20371350
MIRT077074	hsa-miR-548ah-5p	PAR-CLIP	20371350
MIRT077067	hsa-miR-106a-5p	PAR-CLIP	20371350
MIRT077068	hsa-miR-106b-5p	PAR-CLIP	20371350
MIRT077063	hsa-miR-17-5p	PAR-CLIP	20371350
MIRT077064	hsa-miR-20a-5p	PAR-CLIP	20371350
MIRT077069	hsa-miR-20b-5p	PAR-CLIP	20371350
MIRT077071	hsa-miR-519d-3p	PAR-CLIP	20371350
MIRT077070	hsa-miR-526b-3p	PAR-CLIP	20371350
MIRT077065	hsa-miR-93-5p	PAR-CLIP	20371350
MIRT077079	hsa-miR-4796-3p	PAR-CLIP	20371350
MIRT460669	hsa-miR-4490	PAR-CLIP	20371350
MIRT460668	hsa-miR-4774-5p	PAR-CLIP	20371350
MIRT460670	hsa-miR-497-3p	PAR-CLIP	21572407
MIRT077072	hsa-miR-3609	PAR-CLIP	21572407
MIRT077074	hsa-miR-548ah-5p	PAR-CLIP	21572407
MIRT077067	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT077068	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT077063	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT077064	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT077069	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT077071	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT077070	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT077065	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT077079	hsa-miR-4796-3p	PAR-CLIP	21572407
MIRT460669	hsa-miR-4490	PAR-CLIP	21572407
MIRT460668	hsa-miR-4774-5p	PAR-CLIP	21572407
MIRT460670	hsa-miR-497-3p	PAR-CLIP	21572407
MIRT077072	hsa-miR-3609	PAR-CLIP	21572407
MIRT077074	hsa-miR-548ah-5p	PAR-CLIP	21572407
MIRT077067	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT077068	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT077063	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT077064	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT077069	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT077071	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT077070	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT077065	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT077079	hsa-miR-4796-3p	PAR-CLIP	21572407
MIRT460669	hsa-miR-4490	PAR-CLIP	21572407
MIRT460668	hsa-miR-4774-5p	PAR-CLIP	21572407
MIRT460670	hsa-miR-497-3p	PAR-CLIP	23446348
MIRT077072	hsa-miR-3609	PAR-CLIP	23446348
MIRT077074	hsa-miR-548ah-5p	PAR-CLIP	23446348
MIRT077067	hsa-miR-106a-5p	PAR-CLIP	23446348
MIRT077068	hsa-miR-106b-5p	PAR-CLIP	23446348
MIRT077063	hsa-miR-17-5p	PAR-CLIP	23446348
MIRT077064	hsa-miR-20a-5p	PAR-CLIP	23446348
MIRT077069	hsa-miR-20b-5p	PAR-CLIP	23446348
MIRT077071	hsa-miR-519d-3p	PAR-CLIP	23446348
MIRT077070	hsa-miR-526b-3p	PAR-CLIP	23446348
MIRT077065	hsa-miR-93-5p	PAR-CLIP	23446348
MIRT077079	hsa-miR-4796-3p	PAR-CLIP	23446348
MIRT460669	hsa-miR-4490	PAR-CLIP	23446348
MIRT460668	hsa-miR-4774-5p	PAR-CLIP	23446348
MIRT460670	hsa-miR-497-3p	PAR-CLIP	23446348
MIRT077072	hsa-miR-3609	PAR-CLIP	23446348
MIRT077074	hsa-miR-548ah-5p	PAR-CLIP	23446348
MIRT077067	hsa-miR-106a-5p	PAR-CLIP	23446348
MIRT077068	hsa-miR-106b-5p	PAR-CLIP	23446348
MIRT077063	hsa-miR-17-5p	PAR-CLIP	23446348
MIRT077064	hsa-miR-20a-5p	PAR-CLIP	23446348
MIRT077069	hsa-miR-20b-5p	PAR-CLIP	23446348
MIRT077071	hsa-miR-519d-3p	PAR-CLIP	23446348
MIRT077070	hsa-miR-526b-3p	PAR-CLIP	23446348
MIRT077065	hsa-miR-93-5p	PAR-CLIP	23446348
MIRT077079	hsa-miR-4796-3p	PAR-CLIP	23446348
MIRT460669	hsa-miR-4490	PAR-CLIP	23446348
MIRT460668	hsa-miR-4774-5p	PAR-CLIP	23446348
MIRT460670	hsa-miR-497-3p	PAR-CLIP	23592263
MIRT077072	hsa-miR-3609	PAR-CLIP	23592263
MIRT077074	hsa-miR-548ah-5p	PAR-CLIP	23592263
MIRT077067	hsa-miR-106a-5p	PAR-CLIP	23592263
MIRT077068	hsa-miR-106b-5p	PAR-CLIP	23592263
MIRT077063	hsa-miR-17-5p	PAR-CLIP	23592263
MIRT077064	hsa-miR-20a-5p	PAR-CLIP	23592263
MIRT077069	hsa-miR-20b-5p	PAR-CLIP	23592263
MIRT077071	hsa-miR-519d-3p	PAR-CLIP	23592263
MIRT077070	hsa-miR-526b-3p	PAR-CLIP	23592263
MIRT077065	hsa-miR-93-5p	PAR-CLIP	23592263
MIRT077079	hsa-miR-4796-3p	PAR-CLIP	23592263
MIRT460669	hsa-miR-4490	PAR-CLIP	23592263
MIRT460668	hsa-miR-4774-5p	PAR-CLIP	23592263
MIRT077067	hsa-miR-106a-5p	PAR-CLIP	27292025
MIRT077068	hsa-miR-106b-5p	PAR-CLIP	27292025
MIRT077063	hsa-miR-17-5p	PAR-CLIP	27292025
MIRT077064	hsa-miR-20a-5p	PAR-CLIP	27292025
MIRT077069	hsa-miR-20b-5p	PAR-CLIP	27292025
MIRT077072	hsa-miR-3609	PAR-CLIP	27292025
MIRT460669	hsa-miR-4490	PAR-CLIP	27292025
MIRT460668	hsa-miR-4774-5p	PAR-CLIP	27292025
MIRT077079	hsa-miR-4796-3p	PAR-CLIP	27292025
MIRT460670	hsa-miR-497-3p	PAR-CLIP	27292025
MIRT077071	hsa-miR-519d-3p	PAR-CLIP	27292025
MIRT077070	hsa-miR-526b-3p	PAR-CLIP	27292025
MIRT077074	hsa-miR-548ah-5p	PAR-CLIP	27292025
MIRT077065	hsa-miR-93-5p	PAR-CLIP	27292025
MIRT460670	hsa-miR-497-3p	PAR-CLIP	20371350
MIRT077072	hsa-miR-3609	PAR-CLIP	20371350
MIRT077074	hsa-miR-548ah-5p	PAR-CLIP	20371350
MIRT077067	hsa-miR-106a-5p	PAR-CLIP	20371350
MIRT077068	hsa-miR-106b-5p	PAR-CLIP	20371350
MIRT077063	hsa-miR-17-5p	PAR-CLIP	20371350
MIRT077064	hsa-miR-20a-5p	PAR-CLIP	20371350
MIRT077069	hsa-miR-20b-5p	PAR-CLIP	20371350
MIRT077071	hsa-miR-519d-3p	PAR-CLIP	20371350
MIRT077070	hsa-miR-526b-3p	PAR-CLIP	20371350
MIRT077065	hsa-miR-93-5p	PAR-CLIP	20371350
MIRT077079	hsa-miR-4796-3p	PAR-CLIP	20371350
MIRT460669	hsa-miR-4490	PAR-CLIP	20371350
MIRT460668	hsa-miR-4774-5p	PAR-CLIP	20371350
MIRT460670	hsa-miR-497-3p	PAR-CLIP	21572407
MIRT077072	hsa-miR-3609	PAR-CLIP	21572407
MIRT077074	hsa-miR-548ah-5p	PAR-CLIP	21572407
MIRT077067	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT077068	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT077063	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT077064	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT077069	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT077071	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT077070	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT077065	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT077079	hsa-miR-4796-3p	PAR-CLIP	21572407
MIRT460669	hsa-miR-4490	PAR-CLIP	21572407
MIRT460668	hsa-miR-4774-5p	PAR-CLIP	21572407
MIRT460670	hsa-miR-497-3p	PAR-CLIP	21572407
MIRT077072	hsa-miR-3609	PAR-CLIP	21572407
MIRT077074	hsa-miR-548ah-5p	PAR-CLIP	21572407
MIRT077067	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT077068	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT077063	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT077064	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT077069	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT077071	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT077070	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT077065	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT077079	hsa-miR-4796-3p	PAR-CLIP	21572407
MIRT460669	hsa-miR-4490	PAR-CLIP	21572407
MIRT460668	hsa-miR-4774-5p	PAR-CLIP	21572407
MIRT460670	hsa-miR-497-3p	PAR-CLIP	23446348
MIRT077072	hsa-miR-3609	PAR-CLIP	23446348
MIRT077074	hsa-miR-548ah-5p	PAR-CLIP	23446348
MIRT077067	hsa-miR-106a-5p	PAR-CLIP	23446348
MIRT077068	hsa-miR-106b-5p	PAR-CLIP	23446348
MIRT077063	hsa-miR-17-5p	PAR-CLIP	23446348
MIRT077064	hsa-miR-20a-5p	PAR-CLIP	23446348
MIRT077069	hsa-miR-20b-5p	PAR-CLIP	23446348
MIRT077071	hsa-miR-519d-3p	PAR-CLIP	23446348
MIRT077070	hsa-miR-526b-3p	PAR-CLIP	23446348
MIRT077065	hsa-miR-93-5p	PAR-CLIP	23446348
MIRT077079	hsa-miR-4796-3p	PAR-CLIP	23446348
MIRT460669	hsa-miR-4490	PAR-CLIP	23446348
MIRT460668	hsa-miR-4774-5p	PAR-CLIP	23446348
MIRT460670	hsa-miR-497-3p	PAR-CLIP	23446348
MIRT077072	hsa-miR-3609	PAR-CLIP	23446348
MIRT077074	hsa-miR-548ah-5p	PAR-CLIP	23446348
MIRT077067	hsa-miR-106a-5p	PAR-CLIP	23446348
MIRT077068	hsa-miR-106b-5p	PAR-CLIP	23446348
MIRT077063	hsa-miR-17-5p	PAR-CLIP	23446348
MIRT077064	hsa-miR-20a-5p	PAR-CLIP	23446348
MIRT077069	hsa-miR-20b-5p	PAR-CLIP	23446348
MIRT077071	hsa-miR-519d-3p	PAR-CLIP	23446348
MIRT077070	hsa-miR-526b-3p	PAR-CLIP	23446348
MIRT077065	hsa-miR-93-5p	PAR-CLIP	23446348
MIRT077079	hsa-miR-4796-3p	PAR-CLIP	23446348
MIRT460669	hsa-miR-4490	PAR-CLIP	23446348
MIRT460668	hsa-miR-4774-5p	PAR-CLIP	23446348
MIRT460670	hsa-miR-497-3p	PAR-CLIP	23592263
MIRT077072	hsa-miR-3609	PAR-CLIP	23592263
MIRT077074	hsa-miR-548ah-5p	PAR-CLIP	23592263
MIRT077067	hsa-miR-106a-5p	PAR-CLIP	23592263
MIRT077068	hsa-miR-106b-5p	PAR-CLIP	23592263
MIRT077063	hsa-miR-17-5p	PAR-CLIP	23592263
MIRT077064	hsa-miR-20a-5p	PAR-CLIP	23592263
MIRT077069	hsa-miR-20b-5p	PAR-CLIP	23592263
MIRT077071	hsa-miR-519d-3p	PAR-CLIP	23592263
MIRT077070	hsa-miR-526b-3p	PAR-CLIP	23592263
MIRT077065	hsa-miR-93-5p	PAR-CLIP	23592263
MIRT077079	hsa-miR-4796-3p	PAR-CLIP	23592263
MIRT460669	hsa-miR-4490	PAR-CLIP	23592263
MIRT460668	hsa-miR-4774-5p	PAR-CLIP	23592263
MIRT1101074	hsa-miR-106a	CLIP-seq
MIRT1101075	hsa-miR-106b	CLIP-seq
MIRT1101076	hsa-miR-1238	CLIP-seq
MIRT1101077	hsa-miR-1244	CLIP-seq
MIRT1101078	hsa-miR-1270	CLIP-seq
MIRT1101079	hsa-miR-142-3p	CLIP-seq
MIRT1101080	hsa-miR-146a	CLIP-seq
MIRT1101081	hsa-miR-146b-5p	CLIP-seq
MIRT1101082	hsa-miR-17	CLIP-seq
MIRT1101083	hsa-miR-186	CLIP-seq
MIRT1101084	hsa-miR-20a	CLIP-seq
MIRT1101085	hsa-miR-20b	CLIP-seq
MIRT1101086	hsa-miR-3124-3p	CLIP-seq
MIRT1101087	hsa-miR-3133	CLIP-seq
MIRT1101088	hsa-miR-3179	CLIP-seq
MIRT1101089	hsa-miR-3607-3p	CLIP-seq
MIRT1101090	hsa-miR-3611	CLIP-seq
MIRT1101091	hsa-miR-3686	CLIP-seq
MIRT1101092	hsa-miR-382	CLIP-seq
MIRT1101093	hsa-miR-3920	CLIP-seq
MIRT1101094	hsa-miR-4255	CLIP-seq
MIRT1101095	hsa-miR-4272	CLIP-seq
MIRT1101096	hsa-miR-432	CLIP-seq
MIRT1101097	hsa-miR-4527	CLIP-seq
MIRT1101098	hsa-miR-4531	CLIP-seq
MIRT1101099	hsa-miR-4762-3p	CLIP-seq
MIRT1101100	hsa-miR-4773	CLIP-seq
MIRT1101101	hsa-miR-519d	CLIP-seq
MIRT1101102	hsa-miR-548ah	CLIP-seq
MIRT1101103	hsa-miR-578	CLIP-seq
MIRT1101104	hsa-miR-587	CLIP-seq
MIRT1101105	hsa-miR-589	CLIP-seq
MIRT1101106	hsa-miR-620	CLIP-seq
MIRT1101107	hsa-miR-633	CLIP-seq
MIRT1101108	hsa-miR-885-5p	CLIP-seq
MIRT1101109	hsa-miR-93	CLIP-seq
MIRT1101076	hsa-miR-1238	CLIP-seq
MIRT1101077	hsa-miR-1244	CLIP-seq
MIRT1101079	hsa-miR-142-3p	CLIP-seq
MIRT1101080	hsa-miR-146a	CLIP-seq
MIRT1101081	hsa-miR-146b-5p	CLIP-seq
MIRT1101086	hsa-miR-3124-3p	CLIP-seq
MIRT1101087	hsa-miR-3133	CLIP-seq
MIRT1101088	hsa-miR-3179	CLIP-seq
MIRT1101089	hsa-miR-3607-3p	CLIP-seq
MIRT1101090	hsa-miR-3611	CLIP-seq
MIRT2027539	hsa-miR-3674	CLIP-seq
MIRT1101091	hsa-miR-3686	CLIP-seq
MIRT1101093	hsa-miR-3920	CLIP-seq
MIRT1101094	hsa-miR-4255	CLIP-seq
MIRT1101095	hsa-miR-4272	CLIP-seq
MIRT2027540	hsa-miR-431	CLIP-seq
MIRT2027541	hsa-miR-4511	CLIP-seq
MIRT1101097	hsa-miR-4527	CLIP-seq
MIRT2027542	hsa-miR-4680-5p	CLIP-seq
MIRT2027543	hsa-miR-4750	CLIP-seq
MIRT1101099	hsa-miR-4762-3p	CLIP-seq
MIRT2027544	hsa-miR-511	CLIP-seq
MIRT1101103	hsa-miR-578	CLIP-seq
MIRT1101104	hsa-miR-587	CLIP-seq
MIRT1101105	hsa-miR-589	CLIP-seq
MIRT2027545	hsa-miR-618	CLIP-seq
MIRT1101107	hsa-miR-633	CLIP-seq
MIRT1101074	hsa-miR-106a	CLIP-seq
MIRT1101075	hsa-miR-106b	CLIP-seq
MIRT1101076	hsa-miR-1238	CLIP-seq
MIRT1101077	hsa-miR-1244	CLIP-seq
MIRT1101079	hsa-miR-142-3p	CLIP-seq
MIRT1101082	hsa-miR-17	CLIP-seq
MIRT1101083	hsa-miR-186	CLIP-seq
MIRT1101084	hsa-miR-20a	CLIP-seq
MIRT1101085	hsa-miR-20b	CLIP-seq
MIRT1101086	hsa-miR-3124-3p	CLIP-seq
MIRT1101087	hsa-miR-3133	CLIP-seq
MIRT1101089	hsa-miR-3607-3p	CLIP-seq
MIRT1101091	hsa-miR-3686	CLIP-seq
MIRT1101093	hsa-miR-3920	CLIP-seq
MIRT1101094	hsa-miR-4255	CLIP-seq
MIRT1101095	hsa-miR-4272	CLIP-seq
MIRT2027540	hsa-miR-431	CLIP-seq
MIRT2027541	hsa-miR-4511	CLIP-seq
MIRT1101097	hsa-miR-4527	CLIP-seq
MIRT2027542	hsa-miR-4680-5p	CLIP-seq
MIRT2027543	hsa-miR-4750	CLIP-seq
MIRT1101099	hsa-miR-4762-3p	CLIP-seq
MIRT2027544	hsa-miR-511	CLIP-seq
MIRT1101101	hsa-miR-519d	CLIP-seq
MIRT1101102	hsa-miR-548ah	CLIP-seq
MIRT1101103	hsa-miR-578	CLIP-seq
MIRT1101104	hsa-miR-587	CLIP-seq
MIRT2027545	hsa-miR-618	CLIP-seq
MIRT1101107	hsa-miR-633	CLIP-seq
MIRT1101109	hsa-miR-93	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
HOXA7	Activation	11435435

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001533	Component	Cornified envelope	IDA	7543090
GO:0002009	Process	Morphogenesis of an epithelium	IBA
GO:0005198	Function	Structural molecule activity	IEA
GO:0005515	Function	Protein binding	IPI	19627498, 24940650, 27595935
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	HDA	23580065
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005737	Component	Cytoplasm	IDA	22170488, 32179842
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IBA
GO:0005882	Component	Intermediate filament	IEA
GO:0005882	Component	Intermediate filament	NAS	2459124
GO:0009986	Component	Cell surface	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0018149	Process	Peptide cross-linking	IDA	7543090
GO:0030216	Process	Keratinocyte differentiation	IBA
GO:0030216	Process	Keratinocyte differentiation	IEP	22170488
GO:0030280	Function	Structural constituent of skin epidermis	IBA
GO:0030280	Function	Structural constituent of skin epidermis	IDA	7543090
GO:0030280	Function	Structural constituent of skin epidermis	NAS	2459124
GO:0045095	Component	Keratin filament	IBA
GO:0045095	Component	Keratin filament	IPI	27595935
GO:0045109	Process	Intermediate filament organization	IBA
GO:0045684	Process	Positive regulation of epidermis development	ISS
GO:0046982	Function	Protein heterodimerization activity	IDA	27595935
GO:0051290	Process	Protein heterotetramerization	IDA	27595935
GO:0070062	Component	Extracellular exosome	HDA	11487543, 19199708, 23533145

Other IDs

• MIM: 148080
• HGNC: 6413
• e!Ensembl: ENSG00000186395

Protein

• UniProt ID: P13645
• Protein name: Keratin, type I cytoskeletal 10 (Cytokeratin-10) (CK-10) (Keratin-10) (K10)
• Protein function: Plays a role in the establishment of the epidermal barrier on plantar skin (By similarity). Involved in the maintenance of cell layer development and keratin filament bundles in suprabasal cells of the epithelium (By similarity). {ECO:0000250|Un
• PDB: 3ASW, 4F1Z, 4ZRY, 6E2J, 6EC0, 6UUI
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00038	Filament	145 → 459	Intermediate filament protein	Coiled-coil

• Tissue specificity: TISSUE SPECIFICITY: Seen in all suprabasal cell layers including stratum corneum. Expressed on the surface of lung cell lines (PubMed:19627498). Localized on the surface of desquamated nasal epithelial cells (at protein level) (PubMed:12427098). {ECO:0000
• Sequence:

  MSVRYSSSKHYSSSRSGGGGGGGGCGGGGGVSSLRISSSKGSLGGGFSSGGFSGGSFSRG
  SSGGGCFGGSSGGYGGLGGFGGGSFRGSYGSSSFGGSYGGIFGGGSFGGGSFGGGSFGGG
  GFGGGGFGGGFGGGFGGDGGLLSGNEKVTMQNLNDRLASYLDKVRALEESNYELEGKIKE
  WYEKHGNSHQGEPRDYSKYYKTIDDLKNQILNLTTDNANILLQIDNARLAADDFRLKYEN
  EVALRQSVEADINGLRRVLDELTLTKADLEMQIESLTEELAYLKKNHEEEMKDLRNVSTG
  DVNVEMNAAPGVDLTQLLNNMRSQYEQLAEQNRKDAEAWFNEKSKELTTEIDNNIEQISS
  YKSEITELRRNVQALEIELQSQLALKQSLEASLAETEGRYCVQLSQIQAQISALEEQLQQ
  IRAETECQNTEYQQLLDIKIRLENEIQTYRSLLEGEGSSGGGGRGGGSFGGGYGGGSSGG
  GSSGGGHGGGHGGSSGGGYGGGSSGGGSSGGGYGGGSSSGGHGGSSSGGYGGGSSGGGGG
  GYGGGSSGGGSSSGGGYGGGSSSGGHKSSSSGSVGESSSKGPRY

• Sequence length: 584

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
Annular epidermolytic ichthyosis	Likely pathogenic; Pathogenic	rs2143150768, rs59075499	RCV002283888 RCV000015681	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital reticular ichthyosiform erythroderma	Pathogenic; Likely pathogenic	rs2143131560, rs2143133654, rs2143130756, rs2143150768, rs587776815, rs587776816, rs587776817, rs267607384	RCV001619783 RCV001619784 RCV001619785 RCV001730093 RCV003140427 RCV000015682 RCV000015683 RCV000015684 RCV000015685	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epidermolytic hyperkeratosis 1	Pathogenic	rs58075662, rs61434181	RCV004786265 RCV004593969	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermolytic hyperkeratosis 2A, autosomal dominant	Likely pathogenic; Pathogenic	rs2143131560, rs60118264, rs57784225, rs58414354, rs58075662, rs58026994, rs58901407	RCV003988887 RCV004593963 RCV004593964 RCV004593965 RCV004562211 RCV004593966 RCV004593968 RCV004593970	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epidermolytic hyperkeratosis 2B, autosomal recessive	Pathogenic	rs60035576, rs387906640, rs267607381, rs267607379	RCV004593975 RCV004593976 RCV004593982 RCV004593983	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epidermolytic ichthyosis	Likely pathogenic; Pathogenic	rs1597822243, rs58075662	RCV003227577 RCV000015674	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ichthyosis and erythrokeratoderma	Pathogenic	rs58075662	RCV006275856	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ichthyosis, annular epidermolytic 1	Pathogenic	rs62651994	RCV004595904	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
KRT10-related disorder	Pathogenic	rs58075662, rs267607384	RCV004755736 RCV006270338	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTOSOMAL DOMINANT EPIDERMOLYTIC ICHTHYOSIS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE EPIDERMOLYTIC ICHTHYOSIS	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, SQUAMOUS CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONTACT DERMATITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATITIS, CONTACT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ichthyosis hystrix gravior	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Annular epidermolytic ichthyosis	Ichthyosis with epidermolytic hyperkeratosis	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Arsenic Encephalopathy	Arsenic Encephalopathy	CTD_human_DG	19953893		★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	29784039	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	37146352	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	29569858		★☆☆☆☆ Found in Text Mining only
Autosomal dominant epidermolytic ichthyosis	Epidermolytic Ichthyosis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive epidermolytic ichthyosis	Epidermolytic Ichthyosis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Basal Cell Nevus Syndrome	Basal cell nevus syndrome	Pubtator	11558869	Associate	★☆☆☆☆ Found in Text Mining only
Blister	Blister	Pubtator	26176760, 30859768	Associate	★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	BEFREE	12130905		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	32618487	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	18986660	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	16415791	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of uterine cervix	Cervical Intraepithelial Neoplasia	BEFREE	9152428		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	10343611, 1379783, 36029589, 9930073	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	16415791	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	26125866		★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	Pubtator	30021014	Associate	★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	Pubtator	8703383	Inhibit	★☆☆☆☆ Found in Text Mining only
Comedone	Comedone	BEFREE	27153399		★☆☆☆☆ Found in Text Mining only
Congenital ichthyosis	Congenital Ichthyosis	BEFREE	24626314, 28944608		★☆☆☆☆ Found in Text Mining only
Congenital reticular ichthyosiform erythroderma	Congenital Reticular Ichthyosiform Erythroderma	ORPHANET_DG	20798280		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital reticular ichthyosiform erythroderma	Congenital Reticular Ichthyosiform Erythroderma	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital reticular ichthyosiform erythroderma	Congenital Reticular Ichthyosiform Erythroderma	BEFREE	21929535, 24626314, 25210931, 25774499, 26164154, 26381864, 26581228, 28944608, 31638346		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital reticular ichthyosiform erythroderma	Congenital Reticular Ichthyosiform Erythroderma	GENOMICS_ENGLAND_DG	7508181		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital reticular ichthyosiform erythroderma	Congenital Reticular Ichthyosiform Erythroderma	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital reticular ichthyosiform erythroderma	Congenital Reticular Ichthyosiform Erythroderma	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Conjunctival hamartoma	Conjunctival hamartoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Contact Dermatitis	Dermatitis	CTD_human_DG	25724174		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatitis	Dermatitis	BEFREE	20500798		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	25776938		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	19689541		★☆☆☆☆ Found in Text Mining only
Dermoid Cyst	Dermoid Cyst	BEFREE	17542994		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	28403359	Inhibit	★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	25776938		★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	7510721	Associate	★☆☆☆☆ Found in Text Mining only
Epidermal Nevus	Epidermal nevus	Pubtator	17255957, 7526210	Associate	★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Simplex	Epidermolysis bullosa	Pubtator	1721080	Associate	★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Simplex	Epidermolysis Bullosa Simplex	BEFREE	7512862		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	23131349		★☆☆☆☆ Found in Text Mining only
Erythrokeratoderma, Reticular	Erythrokeratoderma	ORPHANET_DG	20798280		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	15286661		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	15286661		★☆☆☆☆ Found in Text Mining only
Exfoliative dermatitis	Exfoliative Dermatitis	BEFREE	10597140		★☆☆☆☆ Found in Text Mining only
Exfoliative dermatitis	Exfoliative Dermatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastroenteritis	Gastroenteritis	BEFREE	23131349		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	22952576	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	29422532		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	36793719	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	34851365	Associate	★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	23121977		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	32618487	Associate	★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	BEFREE	10597140, 20500798, 20804491, 26176760, 8627712		★☆☆☆☆ Found in Text Mining only
Hyperkeratosis Epidermolytic	Epidermolytic hyperkeratosis	Pubtator	10201536, 11558869, 14594577, 14708600, 17255957, 18219278, 22133519, 22504942, 22930352, 24346896, 26176760, 26581228, 27617465, 28121638, 29689068, 30859768, 32045015, 33081034, 33818988, 34387055, 7507150, 7507151, 7507152, 7508181, 7512983, 7513736, 7526210, 7532198, 7678607, 8077693, 8648165, 9036939, 9347802, 9833037, 9856845	Associate	★☆☆☆☆ Found in Text Mining only
Hyperkeratosis, Epidermolytic	Hyperkeratosis, Epidermolytic	BEFREE	10098704, 10201536, 10232402, 10511478, 10597140, 10844506, 11204523, 11558869, 11990254, 12234709, 1379726, 1381287, 14705805, 14708600, 15583602, 16361731, 16505000, 17101470, 17255957, 17683385, 18219278, 19443303, 20302579, 20804491, 21271994, 22133519, 22504942, 25904304, 26176760, 26338057, 28121638, 29277919, 30998984, 31278741, 7507151, 7508181, 7512862, 7512983, 7526210, 7678607, 8648165, 9036939, 9185908, 9347802, 9833037		★☆☆☆☆ Found in Text Mining only
Hyperkeratosis, Epidermolytic	Hyperkeratosis, Epidermolytic	UNIPROT_DG	10201536, 1380725, 1381287, 21271994, 7507150, 7507152, 7508181, 7512983, 7526210		★☆☆☆☆ Found in Text Mining only
Hyperkeratosis, Epidermolytic	Hyperkeratosis, Epidermolytic	LHGDN	12234709, 18219278		★☆☆☆☆ Found in Text Mining only
Hyperkeratosis, Epidermolytic	Hyperkeratosis, Epidermolytic	ORPHANET_DG	1380725, 7512983		★☆☆☆☆ Found in Text Mining only
Hyperkeratosis, Epidermolytic	Hyperkeratosis, Epidermolytic	GENOMICS_ENGLAND_DG	25495838, 7508181		★☆☆☆☆ Found in Text Mining only
Hyperkeratosis, Epidermolytic	Hyperkeratosis, Epidermolytic	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Hyperkeratosis, Epidermolytic	Hyperkeratosis, Epidermolytic	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperkeratosis, Epidermolytic	Hyperkeratosis, Epidermolytic	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	BEFREE	24626314, 28944608		★☆☆☆☆ Found in Text Mining only
Ichthyosis	Ichthyosis	Pubtator	11558869, 20798280, 26581228, 34387055, 34851365	Associate	★☆☆☆☆ Found in Text Mining only
Ichthyosis hystrix of Curth-Macklin	Ichthyosis Hystrix	BEFREE	29689068		★☆☆☆☆ Found in Text Mining only
Ichthyosis Vulgaris	Ichthyosis Vulgaris	BEFREE	28543665		★☆☆☆☆ Found in Text Mining only
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis	Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis	BEFREE	10511478, 9036939, 9856845		★☆☆☆☆ Found in Text Mining only
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis	Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis	ORPHANET_DG	9036939, 9856845		★☆☆☆☆ Found in Text Mining only
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis	Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis	UNIPROT_DG	9036939, 9856845		★☆☆☆☆ Found in Text Mining only
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis	Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis	Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis	Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	20500798		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	BEFREE	10597140, 11558869, 19443303, 26603179, 30288772		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	GENOMICS_ENGLAND_DG	25495838, 7508181		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	2461420	Associate	★☆☆☆☆ Found in Text Mining only
Leukoplakia, Oral	Leukoplakia	BEFREE	27478070		★☆☆☆☆ Found in Text Mining only
Limbal stem cell deficiency	Limbal stem cell deficiency	BEFREE	31095932		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	18559605		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28469975		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	19089296	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	15286661		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	28469975		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	26125866		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	CTD_human_DG	18572023		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	25560632, 36123693	Inhibit	★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	19776502	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia gravis	Pubtator	35802752	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23142730, 26125866, 30021014, 31390573, 31584883		★☆☆☆☆ Found in Text Mining only
Nevus comedonicus	Nevus comedonicus	BEFREE	27153399		★☆☆☆☆ Found in Text Mining only
NEVUS, EPIDERMAL (disorder)	Epidermal nevus	BEFREE	17255957, 7526210		★☆☆☆☆ Found in Text Mining only
Optic Atrophy, Hereditary, Leber	Hereditary Leber Optic Atrophy	BEFREE	28944608		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	26125866		★☆☆☆☆ Found in Text Mining only
Pachyonychia Congenita	Pachyonychia Congenita	GENOMICS_ENGLAND_DG	25495838, 7508181		★☆☆☆☆ Found in Text Mining only
Pachyonychia Congenita	Pachyonychia congenita	Pubtator	7529318	Associate	★☆☆☆☆ Found in Text Mining only
Palmoplantar Keratosis	Palmoplantar Keratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	31390573		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	29806962		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	31390573		★☆☆☆☆ Found in Text Mining only
Peeling skin syndrome acral type	Peeling skin syndrome	Pubtator	22622422	Associate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	36793719	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	34360875	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	29784039	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	30684548		★☆☆☆☆ Found in Text Mining only
Raynaud Phenomenon	Raynaud Phenomenon	BEFREE	29569858		★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	33276600	Associate	★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	29563344, 30859768	Associate	★☆☆☆☆ Found in Text Mining only
Skin Diseases Genetic	Skin disease	Pubtator	8648165	Associate	★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	CTD_human_DG	18572023		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma	Carcinoma	LHGDN	15254692, 17542994		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	17542994, 19675576, 23489647		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	CTD_human_DG	18572023		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	27584795	Associate	★☆☆☆☆ Found in Text Mining only
Teratoma	Teratoma	LHGDN	17542994		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	10343611, 18986660	Associate	★☆☆☆☆ Found in Text Mining only