COL8A2 - collagen type VIII alpha 2 chain Gene

Also Known as FECD; PPCD; FECD1; PPCD2

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 1296

About COL8A2

Cytogenetic location: 1p34.3 Genomic coordinates (GRCh38): 1:36,095,239-36,125,222 (from NCBI)

This gene has 3 transcripts (splice variants), 193 orthologues, 23 paralogues and is associated with 5 phenotypes. Broad expression in placenta (RPKM 6.6), spleen (RPKM 3.6) and 22 other tissues.

Summary

This gene encodes the alpha 2 chain of type VIII Collagen. This protein is a major component of the basement membrane of the corneal endothelium and forms homo- or heterotrimers with alpha 1 (VIII) type collagens. Defects in this gene are associated with Fuchs endothelial corneal dystrophy and posterior polymorphous corneal dystrophy type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

COL8A2 Products (2)

mRNA	Protein	Name
NM_001294347.2	NP_001281276.1	collagen alpha-2(VIII) chain isoform 2
NM_005202.4	NP_005193.1	collagen alpha-2(VIII) chain isoform 1 precursor

COL8A2 Protein Structure

Collagen

C1q

0
200
400
600
703 a.a.

Protein Preferred Names	Protein Names
collagen alpha-2(VIII) chain	collagen VIII, alpha-2 polypeptide

関連疾患

Diseases	Alias
Corneal Dystrophy, Posterior Polymorphous, 2	Posterior Polymorphous Corneal Dystrophy 2 PPCD2 Corneal Dystrophy, Posterior Polymorphous 2 Corneal Dystrophy Polymorphous Posterior, 2 Dystrophy, Corneal, Posterior Polymorphous, Type 2
Corneal Dystrophy, Fuchs Endothelial, 1	FECD1 Corneal Dystrophy, Fuchs Endothelial, Early-Onset Corneal Dystrophy Fuchs Endothelial Early-Onset Fuchs Dystrophy Dystrophy, Corneal, Fuchs Endothelial, Type 1 Corneal Dystrophy, Fuchs' Endothelial, 1 Fuchs Endothelial Dystrophy
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
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
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
Posterior Corneal Dystrophy
Corneal Disease	Corneal Diseases Corneal Disorders
Corneal Dystrophy, Posterior Polymorphous, 3	Posterior Polymorphous Corneal Dystrophy 3 PPCD3 Dystrophy, Corneal, Posterior Polymorphous, Type 3
Corneal Dystrophy And Perceptive Deafness	Corneal Dystrophy-Perceptive Deafness Syndrome CDPD Harboyan Syndrome Cdpd1 Corneal Dystrophy And Sensorineural Deafness Corneal Endothelial Dystrophy And Perceptive Deafness Corneal Dystrophy With Progressive Deafness Congenital Corneal Dystrophy, Progressive Sensorineural Deafness Corneal Dystrophy With Progressive Hearing Loss Corneal Dystrophy-Perceptive Hearing Loss Syndrome Dystrophy, Corneal, Endothelial, And Perceptive Deafness
Secondary Corneal Edema
Malignant Iris Melanoma	Malignant Melanoma Of Iris Melanoma Of The Iris
Keratoconus	Kc Conical Cornea Noninflammatory Corneal Thining Bulging Cornea Cornea Conical Acquired Conus Of Cornea
Corneal Dystrophy, Endothelial, X-Linked	X-Linked Endothelial Corneal Dystrophy XECD Endothelial Corneal Dystrophy, X-Linked
Corneal Edema	Corneal Oedema Infiltrate Of Cornea
Corneal Ectasia
Granular Corneal Dystrophy	Granular Dystrophy Corneal Corneal Dystrophies, Hereditary Hereditary Corneal Dystrophy Corneal Dystrophy Nos Familial Hereditary Corneal Degeneration Hereditary Corneal Opacity
Corneal Dystrophy, Fleck	Fleck Corneal Dystrophy Fcd CFD Corneal Fleck Dystrophy Francois-Neetens Speckled Corneal Dystrophy Corneal Dystrophy, Francois-Neetens Speckled Or Flecked Corneal Dystrophy Francois-Neetens Speckled Or Flecked Dystrophy, Corneal, Fleck
Blepharochalasis	Dermatolysis Palpebrarum Adiposa Ptosis
Metaphyseal Chondrodysplasia, Schmid Type	MCDS Schmid Metaphyseal Chondrodysplasia Metaphyseal Chondrodysplasia Schmid Type Spondylometaphyseal Dysplasia, Japanese Type Japanese Type Spondylometaphyseal Dysplasia Schmid Type Metaphyseal Dysplasia Metaphyseal Chondrodysplasia Type Schmid Schmid Type Metaphyseal Chondrodysplasia SMCD Chondrodysplasia, Metaphyseal, Schmid Type Corneal Dystrophy, Subepithelial Mucinous
Irregular Astigmatism
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
Bullous Keratopathy	Bk - [Bullous Keratopathy]
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
Epithelial And Subepithelial Dystrophy
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 Degeneration	Degenerative Corneal Opacity
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
Recurrent Corneal Erosion	Recurrent Erosion Of Cornea Recurrent Erosion Syndrome Corneal Erosion Non-Traumatic Recurrent Erosion Of Cornea
Stromal Dystrophy
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
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
Glaucoma, Primary Open Angle	Glaucoma 1, Open Angle, E Primary Open Angle Glaucoma POAG Adult-Onset Primary Open Angle Glaucoma Chronic Simple Glaucoma GLC1E Primary Open Angle Glaucoma 1e Glaucoma, Open Angle, Primary
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
Axenfeld-Rieger Syndrome	Axenfeld Syndrome Rieger Syndrome Rieger Anomaly Axenfeld Anomaly Anomaly, Rieger'S Hagedoom Syndrome Rgs - Rieger Syndrome Rieger'S Anomaly Goniodysgenesis Hypodontia Iridogoniodysgenesis With Somatic Anomalies Ars Axenfeld And Rieger Anomaly Axra Axrs Rieger Eye Malformation Sequence
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy

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-RS02999	COL8A2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Mus musculus	COL8A2	MGD	MGI:88464
Macaca mulatta	COL8A2	VGNC	VGNC:71305
Bos taurus	COL8A2	VGNC	VGNC:27575
Canis familiaris	COL8A2	VGNC	VGNC:39485
Felis catus	COL8A2	VGNC	VGNC:107516
Rattus norvegicus	COL8A2	RGD	RGD:1305182
Others	COL8A2	NCBI