KRT12 (keratin 12)

Gene

• Entrez ID: 3859
• Gene name: Keratin 12
• Gene symbol: KRT12
• Synonyms (NCBI Gene): K12, MECD1
• Chromosome: 17
• Chromosome location: 17q21.2
• Summary: KRT12 encodes the type I intermediate filament chain keratin 12, expressed in corneal epithelia. Mutations in this gene lead to Meesmann corneal dystrophy. [provided by RefSeq, Jul 2008]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1101110	hsa-miR-4694-3p	CLIP-seq
MIRT2027546	hsa-miR-134	CLIP-seq
MIRT2027547	hsa-miR-3118	CLIP-seq
MIRT2027548	hsa-miR-3136-5p	CLIP-seq
MIRT2027549	hsa-miR-3164	CLIP-seq
MIRT2027550	hsa-miR-3662	CLIP-seq
MIRT2027551	hsa-miR-4439	CLIP-seq
MIRT2027552	hsa-miR-4513	CLIP-seq
MIRT2027553	hsa-miR-4698	CLIP-seq
MIRT2027554	hsa-miR-758	CLIP-seq
MIRT2258831	hsa-miR-3673	CLIP-seq
MIRT2258832	hsa-miR-3910	CLIP-seq
MIRT2258833	hsa-miR-3922-5p	CLIP-seq
MIRT2258834	hsa-miR-578	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
KLF6	Unknown	12407152
PAX6	Unknown	9856765

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002009	Process	Morphogenesis of an epithelium	IBA
GO:0002009	Process	Morphogenesis of an epithelium	IMP	26758872
GO:0005198	Function	Structural molecule activity	IEA
GO:0005198	Function	Structural molecule activity	NAS	9171831
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IBA
GO:0005882	Component	Intermediate filament	IEA
GO:0007601	Process	Visual perception	TAS	9171831
GO:0030280	Function	Structural constituent of skin epidermis	IBA
GO:0030855	Process	Epithelial cell differentiation	IBA
GO:0045095	Component	Keratin filament	IBA
GO:0045109	Process	Intermediate filament organization	IBA
GO:0061303	Process	Cornea development in camera-type eye	IMP	26758872
GO:0070062	Component	Extracellular exosome	HDA	19199708

Other IDs

• MIM: 601687
• HGNC: 6414
• e!Ensembl: ENSG00000187242

Protein

• UniProt ID: Q99456
• Protein name: Keratin, type I cytoskeletal 12 (Cytokeratin-12) (CK-12) (Keratin-12) (K12)
• Protein function: Involved in corneal epithelium organization, integrity and corneal keratin expression.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00038	Filament	124 → 439	Intermediate filament protein	Coiled-coil

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the corneal epithelium (at protein level). {ECO:0000269|PubMed:26758872, ECO:0000269|PubMed:8759347}.
• Sequence:

  MDLSNNTMSLSVRTPGLSRRLSSQSVIGRPRGMSASSVGSGYGGSAFGFGASCGGGFSAA
  SMFGSSSGFGGGSGSSMAGGLGAGYGRALGGGSFGGLGMGFGGSPGGGSLGILSGNDGGL
  LSGSEKETMQNLNDRLASYLDKVRALEEANTELENKIREWYETRGTGTADASQSDYSKYY
  PLIEDLRNKIISASIGNAQLLLQIDNARLAAEDFRMKYENELALRQGVEADINGLRRVLD
  ELTLTRTDLEMQIESLNEELAYMKKNHEDELQSFRVGGPGEVSVEMDAAPGVDLTRLLND
  MRAQYETIAEQNRKDAEAWFIEKSGELRKEISTNTEQLQSSKSEVTDLRRAFQNLEIELQ
  SQLAMKKSLEDSLAEAEGDYCAQLSQVQQLISNLEAQLLQVRADAERQNVDHQRLLNVKA
  RLELEIETYRRLLDGEAQGDGLEESLFVTDSKSQAQSTDSSKDPTKTRKIKTVVQEMVNG
  EVVSSQVQEIEELM

• Sequence length: 494

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
Corneal dystrophy, Meesmann, 1	Pathogenic	rs57218384, rs58343600, rs58410481, rs58162394, rs58918655, rs28936695, rs886038212	RCV000008383 RCV000008384 RCV000008385 RCV000008386 RCV000008387 RCV000008388 RCV000008389 RCV000252858	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CORNEAL DYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL DYSTROPHY, JUVENILE EPITHELIAL OF MEESMANN	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY CORNEAL DYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KRT12-related disorder	Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anemia, Sickle Cell	Anemia	BEFREE	31143069		★☆☆☆☆ Found in Text Mining only
Aniridia	Aniridia	Pubtator	19558573	Associate	★☆☆☆☆ Found in Text Mining only
Aniridia	Aniridia	BEFREE	29162348		★☆☆☆☆ Found in Text Mining only
Blindness	Blindness	Pubtator	23222558	Associate	★☆☆☆☆ Found in Text Mining only
Corneal Diseases	Corneal Diseases	BEFREE	16083875		★☆☆☆☆ Found in Text Mining only
Corneal dystrophy	Corneal Dystrophy	BEFREE	20577595		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corneal dystrophy	Corneal Dystrophy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corneal dystrophy Avellino type	Corneal dystrophy	Pubtator	21779668	Associate	★☆☆☆☆ Found in Text Mining only
Corneal Dystrophy Juvenile Epithelial of Meesmann	Corneal dystrophy	Pubtator	10781519, 12084738, 15148206, 17653038, 20577595, 22174841, 23222558, 23233254, 23569037, 26788030, 9399908	Associate	★☆☆☆☆ Found in Text Mining only
Corneal Dystrophy, Juvenile Epithelial of Meesmann	Corneal Dystrophy, Epithelial Of Meesmann	BEFREE	10644419, 10781519, 12084738, 12543196, 15148206, 16227835, 16352477, 17653038, 18661274, 20577595, 23222558, 23233254, 23569037, 24099278, 24801514, 26758872, 26788030, 30535821, 9171831, 9399908		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corneal Dystrophy, Juvenile Epithelial of Meesmann	Corneal Dystrophy, Epithelial Of Meesmann	UNIPROT_DG	10644419, 10781519, 12543196, 15148206, 16227835, 16352477, 17653038, 18245975, 18661274, 20577595, 23222558, 24099278, 9171831, 9399908		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corneal Dystrophy, Juvenile Epithelial of Meesmann	Corneal Dystrophy, Epithelial Of Meesmann	LHGDN	12543196, 17653038, 18661274		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corneal Dystrophy, Juvenile Epithelial of Meesmann	Corneal Dystrophy, Epithelial Of Meesmann	GENOMICS_ENGLAND_DG	22174841, 8759347		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corneal Dystrophy, Juvenile Epithelial of Meesmann	Corneal Dystrophy, Epithelial Of Meesmann	ORPHANET_DG	9171831		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corneal Dystrophy, Juvenile Epithelial of Meesmann	Corneal Dystrophy, Epithelial Of Meesmann	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes mellitus	Pubtator	28403359	Inhibit	★☆☆☆☆ Found in Text Mining only
Excessive tearing	Excessive Tearing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Granular Dystrophy, Corneal	Corneal Granular Dystrophy	BEFREE	28567551		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	BEFREE	28567551		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	36811882	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	16177192	Associate	★☆☆☆☆ Found in Text Mining only
Macular dystrophy, corneal type 1	Macular corneal dystrophy	BEFREE	10644419, 10781519, 12543196, 16227835, 9399908		★☆☆☆☆ Found in Text Mining only
Meesmann corneal dystrophy	Meesmann Corneal Dystrophy	Orphanet			★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	33441834	Associate	★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	19337156, 9399908		★☆☆☆☆ Found in Text Mining only
Pemphigoid Bullous	Bullous pemphigoid	Pubtator	19558573	Associate	★☆☆☆☆ Found in Text Mining only
Peritoneal Neoplasms	Peritoneal neoplasm	Pubtator	23233254	Associate	★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	BEFREE	19956562		★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	18806880	Associate	★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	23222558	Associate	★☆☆☆☆ Found in Text Mining only