KRT12 - keratin 12 Gene

Also Known as K12; MECD1

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 3859

About KRT12

Cytogenetic location: 17q21.2 Genomic coordinates (GRCh38): 17:40,861,303-40,867,223 (from NCBI)

This gene has 5 transcripts (splice variants), 1 gene allele, 128 orthologues, 68 paralogues and is associated with 3 phenotypes. Low expression observed in reference dataset.

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]

KRT12 Products (1)

mRNA	Protein	Name
NM_000223.4	NP_000214.1	keratin, type I cytoskeletal 12

Gene Ontology

Biological Process

Biological Process GO Annotation	Evidence	参考文献	由来
involved in cornea development in camera-type eye	IMP IMP: Inferred from mutant phenotype	26758872	GOA
involved in morphogenesis of an epithelium	IMP IMP: Inferred from mutant phenotype	26758872	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KRT12 Protein Structure

Filament

0
100
200
300
400
494 a.a.

Protein Preferred Names	Protein Names
keratin, type I cytoskeletal 12	CK-12

KRT12 抗体

製品番号	製品名	アプリケーション	反応性
HY-P83259	Cytokeratin 12 Antibody (YA3004)	WB, IHC-P, ICC/IF	Human, Mouse, Rat

関連疾患

Diseases	Alias
Corneal Dystrophy, Meesmann, 1	Meesmann Corneal Dystrophy Mecd Corneal Dystrophy, Meesmann Epithelial Juvenile Hereditary Epithelial Dystrophy Corneal Dystrophy, Juvenile Epithelial Of Meesmann MECD1 Meesmann Corneal Dystrophy 1 Meesmann Corneal Epithelial Dystrophy Meesmann Epithelial Corneal Dystrophy Corneal Dystrophy, Juvenile Epithelial, Of Meesmann Stocker-Holt Dystrophy Meesman Dystrophy Meesman'S Corneal Dystrophy Juvenile Hereditary Epithelial Dystrophy Of Meesmann Corneal Dystrophy, Meesmann 1 Juvenile Epithelial Corneal Dystrophy Of Meesmann Mcd Dystrophy, Corneal, Meesmann
Corneal Dystrophy
Corneal Disease	Corneal Diseases Corneal Disorders
Epithelial And Subepithelial Dystrophy
Astigmatism
Recurrent Corneal Erosion	Recurrent Erosion Of Cornea Recurrent Erosion Syndrome Corneal Erosion Non-Traumatic Recurrent Erosion Of Cornea
Corneal Endothelial Dystrophy	Congenital Hereditary Endothelial Dystrophy Of Cornea Chandler Syndrome CHED Chandler'S Syndrome Endothelial Corneal Dystrophy Ched2 Maumenee Corneal Dystrophy Corneal Dystrophy, Congenital Hereditary Endothelial Dystrophy Of Corneal Endothelium Corneal Endothelial Dystrophy 2 Corneal Endothelial Dystrophy 2, Autosomal Recessive, Formerly Ched2, Formerly Corneal Endothelial Dystrophy, Autosomal Recessive Endothelial Dystrophy Posterior Membrane Corneal Dystrophy Corneal Endothelial Dystrophy Type 2 Congenital Hereditary Endothelial Dystrophy Of The Cornea Congenital Hereditary Endothelial Dystrophy Type Ii Autosomal Recessive Ched Autosomal Recessive Congenital Hereditary Endothelial Dystrophy Chedii Congenital Hereditary Endothelial Dystrophy Type 2 Infantile Hereditary Endothelial Dystrophy Congenital Hereditary Endothelial Corneal Dystrophy Corneal Endothelial Dystrophy 2, Autosomal Recessive Iridocorneal Endothelial Syndrome Dystrophy, Corneal, Endothelial Corneal Endothelial Dystrophy 1, Autosomal Dominant
Corneal Dystrophy, Lisch Epithelial	Lisch Epithelial Corneal Dystrophy LECD Band-Shaped And Whorled Microcystic Corneal Epithelial Dystrophy Band-Shaped And Whorled Microcystic Band-Shaped And Whorled Microcystic Dystrophy Of The Corneal Epithelium
Pseudopterygium
Conjunctival Squamous Cell Carcinoma	Squamous Cell Carcinoma Of Conjunctiva Conjunctival Epidermoid Carcinoma Invasive Squamous Cell Carcinoma Of The Conjunctiva Ocular Surface Squamous Neoplasia
Granular Corneal Dystrophy	Granular Dystrophy Corneal Corneal Dystrophies, Hereditary Hereditary Corneal Dystrophy Corneal Dystrophy Nos Familial Hereditary Corneal Degeneration Hereditary Corneal Opacity
Corneal Dystrophy, Thiel-Behnke Type	Thiel-Behnke Corneal Dystrophy Tbcd CDTB Cdb2 Corneal Dystrophy Of Bowman Layer Type Ii Anterior Limiting Membrane Dystrophy Type Ii Waardenburg-Jonker Corneal Dystrophy Corneal Dystrophy Of Bowman Layer, Type Ii Corneal Dystrophy, Honeycomb-Shaped Corneal Dystrophy Honeycomb-Shaped Corneal Dystrophy Thiel Behnke Type Corneal Dystrophy Honeycomb Shaped Corneal Dystrophy Of The Bowman Layer Type 2 Thiel Behnke Corneal Dystrophy Anterior Limiting Membrane Dystrophy Type 2 Corneal Dystrophy Of Bowman Layer Type 2 Curly Fiber Corneal Dystrophy Honeycomb Corneal Dystrophy Honeycomb-Shaped Corneal Dystrophy Dystrophy, Corneal, Thiel-Behnke Type
Corneal Dystrophy, Reis-Bucklers Type	Reis-Bucklers Corneal Dystrophy Rbcd CDRB Cdb1 Corneal Dystrophy Of Bowman Layer Type I Geographic Corneal Dystrophy Granular Corneal Dystrophy Type Iii Reis-Bucklers' Corneal Dystrophy Anterior Limiting Membrane Dystrophy Type I Corneal Dystrophy Of Bowman Layer Type 1 Corneal Dystrophy Of Bowman Layer, Type I Corneal Dystrophy, Geographic Granular Corneal Dystrophy, Type Iii Corneal Dystrophy Reis Bucklers Type Corneal Dystrophy Geographic Reis Bucklers Corneal Dystrophy Reis Bucklers Dystrophy Anterior Limiting Membrane Dystrophy Type 1 Atypical Granular Corneal Dystrophy Granular Corneal Dystrophy Type 3 Superficial Granular Corneal Dystrophy Corneal Dystrophy Of Bowman Layer, Type 1 Dystrophy, Corneal, Reis-Bucklers Type
Keratopathy
Epithelial-Stromal Tgfbi Dystrophy
Corneal Degeneration	Degenerative Corneal Opacity
Corneal Deposit	Deposits - Cornea
Corneal Dystrophy, Gelatinous Drop-Like	Gelatinous Drop-Like Corneal Dystrophy GDLD Cdgdl Corneal Amyloidosis Lattice Corneal Dystrophy Type Iii Amyloidosis, Corneal Amyloid Corneal Dystrophy, Japanese Type Gdcd Primary Familial Amyloidosis Of The Cornea Subepithelial Amyloidosis Of The Cornea Corneal Dystrophy, Lattice Type 3 Corneal Dystrophy, Lattice Type Iii Lattice Corneal Dystrophy, Type Iii Amyloidosis Corneal Lattice Corneal Dystrophy Type3 Amyloid Corneal Dystrophy Japanese Type Dystrophy, Corneal, Gelatinous Drop-Like Amyloid Of Cornea
Corneal Dystrophy, Posterior Polymorphous, 1	Posterior Polymorphous Corneal Dystrophy Ppcd Maumenee Corneal Dystrophy Posterior Polymorphous Corneal Dystrophy 1 PPCD1 Corneal Dystrophy, Hereditary Polymorphous Posterior Corneal Endothelial Dystrophy 1, Autosomal Dominant Schlichting Dystrophy Ched1 Corneal Endothelial Dystrophy 1, Autosomal Dominant, Formerly Ched1, Formerly Hereditary Polymorphus Posterior Corneal Dystrophy Posterior Polymorphous Dystrophy Hereditary Polymorphous Posterior Corneal Dystrophy Dystrophy, Corneal, Posterior Polymorphous Dystrophy, Corneal, Posterior Polymorphous, Type 1 Polymorphous Corneal Dystrophy Corneal Endothelial Dystrophy 2
Epithelial Basement Membrane Dystrophy	Ebmd Corneal Dystrophy, Epithelial Basement Membrane Cogan Corneal Dystrophy Microcystic Corneal Dystrophy Anterior Basement Membrane Dystrophy Cogan Microcystic Epithelial Dystrophy Map-Dot-Fingerprint Dystrophy Microscopic Cystic Corneal Dystrophy
Macular Dystrophy, Corneal	Macular Corneal Dystrophy MCD Corneal Dystrophy, Macular Type Groenouw Type Ii Corneal Dystrophy Fehr Corneal Dystrophy Macular Dystrophy, Corneal Type 1 Mcdc1 Macular Corneal Dystrophy Type Ii Macular Corneal Dystrophy, Type Ii Macular Corneal Dystrophy, Type I Mcdc1, Formerly Macular Dystrophy, Corneal, 1 Macular Corneal Dystrophy Type 1 Corneal Dystrophy Groenouw Type Ii Corneal Dystrophy Macular Type Macular Corneal Dystrophy Type I Dystrophy, Macular, Corneal
Keratoconus	Kc Conical Cornea Noninflammatory Corneal Thining Bulging Cornea Cornea Conical Acquired Conus Of Cornea
Anterior Scleritis
Corneal Dystrophy, Groenouw Type I	CDGG1 Gcd1 Groenouw Corneal Dystrophy Type I Granular Corneal Dystrophy 1 Granular Corneal Dystrophy Type I Corneal Dystrophy Groenouw Type I Granular Corneal Dystrophy, Type I Corneal Dystrophy, Punctate Or Nodular Groenouw Type I Corneal Dystrophy Corneal Dystrophy Granular Type Corneal Dystrophy Punctate Or Nodular Classic Gcd Classic Granular Corneal Dystrophy Gcdi Granular Corneal Dystrophy Type 1 Corneal Dystrophy, Groenouw Type 1 Mesh D003317 Punctate Or Nodular Corneal Dystrophy Dystrophy, Corneal, Groenouw Type I
Lagophthalmos	Defective Lid Closure Poor Closure Eyelids
Corneal Dystrophy, Subepithelial Mucinous	Subepithelial Mucinous Corneal Dystrophy SMCD
Conjunctival Cancer	Malignant Neoplasm Of Conjunctiva Conjunctival Neoplasms Conjunctival Tumor Malignant Conjunctival Tumor Malignant Tumor Of Conjunctiva Neoplasm Of Conjunctiva Conjunctiva Cancer Primary Malignant Neoplasm Of Conjunctiva
Corneal Dystrophy, Avellino Type	Avellino Corneal Dystrophy CDA Combined Granular-Lattice Corneal Dystrophy Cgd2 Granular Corneal Dystrophy Type 2 Acd Granular Corneal Dystrophy 2 Corneal Dystrophy Avellino Type Granular Corneal Dystrophy Type Ii Granular Corneal Dystrophy, Type Ii Combined Granular-Lattice Corneal Dystrophies Granular And Lattice Corneal Dystrophies Granular-Lattice Corneal Dystrophy Gcd2 Gcdii Granular-Lattice Corneal Dystrophy
Iris Disease	Iris Diseases
Irregular Astigmatism
Aniridia 1	Aniridia Congenital Aniridia AN1 An Cataract With Late-Onset Corneal Dystrophy Aplasia Of Iris Absent Iris Irideremia Aniridia Ii, Formerly An2, Formerly An2 Aniridia Type Ii Aniridia, Type 1 An-1 Absence Of Iris Agenesis Of Iris Congenital Absence Of Iris Hereditary Aniridia Sporadic Aniridia
Cicatricial Pemphigoid	Mucous Membrane Pemphigoid Ocular Pemphigoid Benign Mucous Membrane Pemphigoid Benign Mucous Membrane Pemphigoid With Ocular Involvement Benign Mucosal Pemphigoid Pemphigoid, Benign Mucous Membrane Cicatricial Pemphigoid With Ocular Involvement Ocular Pemphigus Cicatricial Pemphigoid Disease Mucosal Pemphigoid Mucosynechial Pemphigoid Pemphigoid Cicatricial Cicatricial Pemphigoid Involving The Eye Ocular Cicatricial Pemphigoid
Corneal Dystrophy, Posterior Polymorphous, 3	Posterior Polymorphous Corneal Dystrophy 3 PPCD3 Dystrophy, Corneal, Posterior Polymorphous, Type 3
Keratosis Follicularis Spinulosa Decalvans	Kfsd Keratosis Follicularis Spinulosa Decalvans Cum Ophiasi Keratosis Follicularis Spinulosa Decalvans, X-Linked Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Keratosis Pilaris Atrophicans	KPA Burnett Schwartz Berberian Syndrome
Schnyder Corneal Dystrophy	Schnyder Crystalline Corneal Dystrophy SCCD Corneal Dystrophy, Crystalline, Of Schnyder Corneal Dystrophy, Schnyder Type Corneal Dystrophy Crystalline Of Schnyder Crystalline Stromal Dystrophy Hereditary Crystalline Stromal Dystrophy Of Schnyder Scd Corneal Dystrophy, Schnyder Schnyder Crystalline Dystrophy Sine Crystals Dystrophy, Corneal, Crystalline, Schnyder
Epithelial Recurrent Erosion Dystrophy	ERED Corneal Erosions, Recurring Hereditary Col17a1 Dystrophia Helsinglandica Dystrophia Smolandiensis Recurrent Hereditary Corneal Erosions Rces Recurrent Corneal Erosion Syndrome Recurrent Erosion Of Cornea
Tyrosinemia, Type Ii	Tyrosinemia Type Ii Oculocutaneous Tyrosinemia Richner-Hanhart Syndrome Tyrosine Aminotransferase Deficiency Tat Deficiency Tyrosine Transaminase Deficiency Keratosis Palmoplantaris With Corneal Dystrophy TYRSN2 Oregon Type Tyrosinemia Tyrosinemia Type 2 Tyrosinosis Oculocutaneous Type Tyrosinosis, Oculocutaneous Type Richner Hanhart Syndrome Keratosis Palmoplantaris-Corneal Dystrophy Syndrome Tyrosinemia Due To Tat Deficiency Tyrosinemia Due To Tyrosine Aminotransferase Deficiency Tyrosinemia 2 Tyrosinemia Oregon Type Tyrosine Transaminase Deficiency Disease
Corneal Edema	Corneal Oedema Infiltrate Of Cornea
Stromal Dystrophy
Corneal Dystrophy, Band-Shaped	Band Keratopathy Band-Shaped Keratopathy
Severe Cutaneous Adverse Reaction	Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Drug-Induced Stevens Johnson Syndrome Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum Susceptibility To Severe Cutaneous Adverse Reaction Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Lyell'S Syndrome Lyell Syndrome Severe Cutaneous Adverse Reaction, Susceptibility To Hypersensitivity Syndrome, Carbamazepine-Induced, Susceptibility To Hypersensitivity Syndrome, Carbamazepine-Induced Stevens-Johnson Syndrome, Susceptibility To Toxic Epidermal Necrolysis, Susceptibility To Sjs/Ten Susceptibility To Severe Cutaneous Adverse Reaction Ity To Mycoplasma-Induced Stevens Johnson Syndrome Dermatostomatitis, Stevens Johnson Type Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum Sjs-Ten Toxic Epidermolysis SJS Dermatostomatitis Stevens Johnson Type Ten Sjs/Ten - [Stevens-Johnson Syndrome And Toxic Epidermal Necrolysis] Ten - [Toxic Epidermal Necrolysis]
Lattice Corneal Dystrophy	Familial Amyloid Neuropathy, Finnish Type Familial Amyloid Polyneuropathy, Type V
Keratitis, Hereditary	Keratitis Autosomal Dominant Keratitis Hereditary Keratitis Dominantly Inherited Keratitis Keratitis Hereditary KERH
Fuchs' Endothelial Dystrophy	Fuchs Endothelial Corneal Dystrophy Fuchs Endothelial Dystrophy Fuchs Dystrophy Fced Fuchs' Corneal Dystrophy Fuchs' Endothelial Corneal Dystrophy Fuchs Atrophy Fuchs Corneal Dystrophy Endoepithelial Corneal Dystrophy Fecd Late Hereditary Endothelial Dystrophy Corneal Dystrophy, Fuchs Endothelial Dystrophy, Corneal, Fuchs Endothelial Corneal Dystrophy, Fuchs' Endothelial, 1
Anterior Segment Dysgenesis	Anterior Segment Developmental Anomaly Anterior Segment Mesenchymal Dysgenesis Corneal Opacification And Other Ocular Anomalies Sclerocornea With Other Ocular Anomalies Asmd Asod Anterior Segment Ocular Dysgenesis Foxe3-Related Ocular Disorder Familial Ocular Anterior Segment Mesenchymal Dysgenesis Dysgenesis, Anterior Segment Irido-Corneal Dysgenesis Axenfeld-Rieger Syndrome, Type 3
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS07435	KRT12 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Bos taurus	KRT12	VGNC	VGNC:30718
Canis familiaris	KRT12	VGNC	VGNC:42517
Felis catus	KRT12	VGNC	VGNC:67984
Mus musculus	KRT12	MGD	MGI:96687
Macaca mulatta	KRT12	VGNC	VGNC:74208
Rattus norvegicus	KRT12	RGD	RGD:1304805
Others	KRT12	NCBI