COL8A2 - collagen type VIII alpha 2 chain Gene

Homo sapiens

Also known as FECD; PPCD; FECD1; PPCD2

Gene ID: 1296 | Gene type: protein coding

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

Related Diseases

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02999	COL8A2 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	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