2. Gene
  3. COL12A1 - collagen type XII alpha 1 chain Gene

COL12A1 - collagen type XII alpha 1 chain Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as UCMD2; BTHLM2; EDSMYP; COL12A1L; BA209D8.1; DJ234P15.1

Gene ID: 1303 | Gene type: protein coding

About COL12A1

Cytogenetic location: 6q13-q14.1 Genomic coordinates (GRCh38): 6:75,084,326-75,206,053 (from NCBI)

This gene has 13 transcripts (splice variants), 295 orthologues, 12 paralogues and is associated with 5 phenotypes. Broad expression in endometrium (RPKM 41.5), ovary (RPKM 33.4) and 18 other tissues.

Summary

This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I collagen, an association that is thought to modify the interactions between collagen I fibrils and the surrounding matrix. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

COL12A1 Products(2)

mRNA Protein Name
NM_004370.6 NP_004361.3 collagen alpha-1(XII) chain long isoform precursor
NM_080645.3 NP_542376.2 collagen alpha-1(XII) chain short isoform precursor
Gene Ontology
  • Biological Process
Biological Process GO Annotation Evidence Reference Source
involved in endodermal cell differentiation IEP
IEP: Inferred from expression pattern
23154389 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

COL12A1 Protein Structure

fn3

fn3: Fibronectin type III domain (26 - 102)

VWA

VWA: von Willebrand factor type A domain (140 - 312)

fn3

fn3: Fibronectin type III domain (336 - 414)

VWA

VWA: von Willebrand factor type A domain (440 - 608)

fn3

fn3: Fibronectin type III domain (634 - 709)

fn3

fn3: Fibronectin type III domain (725 - 792)

fn3

fn3: Fibronectin type III domain (816 - 892)

fn3

fn3: Fibronectin type III domain (907 - 986)

fn3

fn3: Fibronectin type III domain (1001 - 1074)

fn3

fn3: Fibronectin type III domain (1089 - 1165)

VWA

VWA: von Willebrand factor type A domain (1199 - 1370)

fn3

fn3: Fibronectin type III domain (1387 - 1462)

fn3

fn3: Fibronectin type III domain (1479 - 1550)

fn3

fn3: Fibronectin type III domain (1567 - 1645)

fn3

fn3: Fibronectin type III domain (1656 - 1728)

fn3

fn3: Fibronectin type III domain (1755 - 1833)

fn3

fn3: Fibronectin type III domain (1847 - 1924)

fn3

fn3: Fibronectin type III domain (1938 - 2016)

fn3

fn3: Fibronectin type III domain (2027 - 2105)

fn3

fn3: Fibronectin type III domain (2118 - 2193)

fn3

fn3: Fibronectin type III domain (2207 - 2280)

VWA

VWA: von Willebrand factor type A domain (2323 - 2495)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (2747 - 2798)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (2802 - 2852)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (2845 - 2898)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (2941 - 2990)

  • 0
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  • 2500
  • 3063 a.a.
Protein Preferred Names Protein Names

collagen alpha-1(XII) chain

collagen type XII proteoglycan

Related Diseases

Diseases Alias
Bethlem Myopathy 2

BTHLM2

Edsmyp

Ehlers-Danlos Syndrome, Myopathic Type

Eds, Myopathic Type

Myopathic Ehlers-Danlos Syndrome

Eds/Myopathy Overlap Syndrome

Myopathic Eds

Eds, Myopathic

Ehlers-Danlos Syndrome, Myopathic

Myopathy, Bethlem, Type 2
Ullrich Congenital Muscular Dystrophy 2

UCMD2
Bethlem Myopathy 1

Bethlem Myopathy

Myopathy, Benign Congenital, With Contractures

Muscular Dystrophy, Benign Congenital

BTHLM1

Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5

Lgmdd5

Benign Congenital Muscular Dystrophy

Benign Autosomal Dominant Myopathy

Myopathy, Bethlem

Myopathy, Bethlem, Type 1
Ullrich Congenital Muscular Dystrophy 1

Ullrich Congenital Muscular Dystrophy

Ullrich Disease

Ucmd

Ullrich Scleroatonic Muscular Dystrophy

Scleroatonic Muscular Dystrophy

UCMD1

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 22

Lgmdr22

Muscular Dystrophy, Scleroatonic

Late Onset Scleroatonic Familial Myopathy

Congenital Muscular Dystrophy, Ullrich Type
Cataract 16, Multiple Types

Cataract 16 Multiple Types

CTRCT16

Ctpp2

Cataract, Posterior Polar, 2

Posterior Polar Cataract 2

Cataract, Congenital Lamellar

Congenital Lamellar Cataract
Connective Tissue Disease

Connective Tissue Diseases

Connective Tissue Disorder

Abnormality Of Connective Tissue

Disorder Of Connective Tissue

Connective Tissue Disorders
Ehlers-Danlos Syndrome

Eds

Cutis Hyperelastica

Elastic Skin

Ehlers-Danlos Syndromes

Ed Syndrome

Ehlers Danlos Syndrome

Ehlers Danlos Disease

Eds - [Ehlers-Danlos Syndrome]
Myopathy

Muscular Diseases

Myopathies
Muscular Dystrophy

Muscular Dystrophies

Congenital Md

Congenital Muscular Dystrophy

Cmd

Mdc

Dystrophy, Muscular

Gower'S Muscular Dystrophy

Progressive Musclular Dystrophy

Pseudohypertrophic Atrophy

Pseudohypertrophic Muscle Paralysis

Pseudohypertrophic Muscular Atrophy

Pseudohypertrophic Muscular Dystrophy

Pseudohypertrophic Paralysis

Pseudomuscular Hypertrophy
Cardiomyopathy, Familial Hypertrophic, 1

Asymmetric Septal Hypertrophy

Familial Hypertrophic Cardiomyopathy

Hypertrophic Cardiomyopathy 1

CMH1

Hypertrophic Cardiomyopathy 19

CMH

Ventricular Hypertrophy, Hereditary

Ash

Hypertrophic Subaortic Stenosis, Idiopathic

Cardiomyopathy, Familial Hypertrophic

Cardiomyopathy, Hypertrophic, 1, Digenic

Cardiomyopathy, Familial Hypertrophic 1

Hcm

Hereditary Ventricular Hypertrophy

Idiopathic Hypertrophic Subaortic Stenosis

Hypertrophic Cardiomyopathy

Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, 1

Familial Asymmetric Septal Hypertrophy

Heritable Hypertrophic Cardiomyopathy

Fhc

Cardiomyopathy, Hypertrophic, Familial, Type 1
Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis
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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS02962 COL12A1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus COL12A1 VGNC VGNC:102406
Macaca mulatta COL12A1 VGNC VGNC:71291
Rattus norvegicus COL12A1 RGD RGD:2374
Canis familiaris COL12A1 VGNC VGNC:39458
Bos taurus COL12A1 VGNC VGNC:52756
Mus musculus COL12A1 MGD MGI:88448