1. Gene
  2. KRT12 - keratin 12 Gene

KRT12 - keratin 12 Gene

Homo sapiens

Also known as K12; MECD1

Gene ID: 3859 | Gene type: protein coding

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 Reference Source
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

Filament: Intermediate filament protein (124 - 437)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 494 a.a.
Protein Preferred Names Protein Names

keratin, type I cytoskeletal 12

CK-12

Related Diseases

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

Orthologs Information

Species Symbol Source 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