1. Gene
  2. COL8A2 - collagen type VIII alpha 2 chain Gene

COL8A2 - collagen type VIII alpha 2 chain Gene

中文名称:VIII 型胶原蛋白 alpha 2 链

种属: Homo sapiens

同用名: FECD; PPCD; FECD1; PPCD2

基因 ID: 1296 | 基因类型: protein coding

关于 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.

功能概要

该基因编码 VIII 型胶原蛋白的 alpha 2 链。这种蛋白质是角膜内皮基底膜的主要成分,并与 alpha 1 (VIII) 型胶原蛋白形成同型或异型三聚体。该基因的缺陷与 Fuchs 内皮角膜营养不良和 2 型后部多形性角膜营养不良有关。选择性剪接导致多种转录本变异。[RefSeq 提供,2014 年 6 月]

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 基因产物(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 蛋白结构

Collagen

Collagen: Collagen triple helix repeat (20 copies) (123 - 168)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (281 - 334)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (495 - 543)

C1q

C1q: C1q domain (576 - 700)

  • 0
  • 200
  • 400
  • 600
  • 703 a.a.
蛋白主名 其他名称

collagen alpha-2(VIII) chain

collagen VIII, alpha-2 polypeptide

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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