COL12A1 - collagen type XII alpha 1 chain Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1303

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	References	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

VWA

fn3

VWA

fn3

VWA

fn3

VWA

Collagen

0
500
1000
1500
2000
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

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 Set	/	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
Others	COL12A1	NCBI