1. Gene
  2. COL4A2 - collagen type IV alpha 2 chain Gene

COL4A2 - collagen type IV alpha 2 chain Gene

中文名称:IV 型胶原α2 链

种属: Homo sapiens

同用名: ICH; BSVD2; POREN2

基因 ID: 1284 | 基因类型: protein coding

关于 COL4A2

Cytogenetic location: 13q34 Genomic coordinates (GRCh38): 13:110,307,284-110,513,209 (from NCBI)

This gene has 18 transcripts (splice variants), 163 orthologues, 37 paralogues and is associated with 4 phenotypes. Biased expression in placenta (RPKM 373.6), fat (RPKM 158.9) and 13 other tissues.

功能概要

该基因编码 IV 型胶原蛋白的六个亚基之一,IV 型胶原蛋白是基底膜的主要结构成分。该蛋白质的 C 末端部分称为 canstatin,是血管生成和肿瘤生长的抑制剂。与 IV 型胶原蛋白基因家族的其他成员一样,该基因与另一个 IV 型胶原蛋白基因以头对头的构象组织在一起,因此每个基因对共享一个共同的启动子。[RefSeq 提供,2008 年 7 月]

This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. The C-terminal portion of the protein, known as canstatin, is an inhibitor of angiogenesis and tumor growth. Like the Other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jul 2008]

COL4A2 基因产物(1)

mRNA Protein Name
NM_001846.4 NP_001837.2 collagen alpha-2(IV) chain preproprotein
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables molecular adaptor activity EXP
EXP: 通过实验结果推断
30443360 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
12011424 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in endodermal cell differentiation IEP
IEP: 通过表达模式推断
23154389 GOA
involved in negative regulation of angiogenesis IDA
IDA: 通过直接分析推断
10625665 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

COL4A2 蛋白结构

Collagen

Collagen: Collagen triple helix repeat (20 copies) (61 - 116)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (115 - 170)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (184 - 232)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (293 - 347)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (423 - 482)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (494 - 549)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (684 - 739)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (720 - 775)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (780 - 837)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (821 - 877)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (869 - 926)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (920 - 978)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (990 - 1043)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1033 - 1088)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1101 - 1155)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1155 - 1212)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1278 - 1336)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1332 - 1389)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1401 - 1446)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (1432 - 1484)

C4

C4: C-terminal tandem repeated domain in type 4 procollagen (1490 - 1595)

C4

C4: C-terminal tandem repeated domain in type 4 procollagen (1598 - 1711)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1712 a.a.
蛋白主名 其他名称

collagen alpha-2(IV) chain

canstatin

重组 COL4A2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P72147 COL4A2 Protein, Human (His) P08572 (V1493-L1712) ≥95%

关联疾病

疾病名称 别名
Brain Small Vessel Disease 2

Porencephaly 2

BSVD2

Gould Syndrome 2

Porencephaly 2, Formerly

Poren2, Formerly

Poren2

Hemorrhage, Intracerebral

Intracerebral Hemorrhage

Hemorrhagic Stroke

ICH

Hemorrhage, Intracerebral, Susceptibility To

Stroke, Hemorrhagic

Stroke, Hemorrhagic, Susceptibility To

Brain Hemorrhage

Familial Porencephaly

Familial Porencephalic White Matter Disease

Autosomal Dominant Porencephaly Type 1

Infantile Hemiplegia With Porencephaly

Porencephaly Type 1

Porencephaly, Familial

Porencephaly
Brain Small Vessel Disease
Optic Nerve Hypoplasia, Bilateral

Optic Nerve Hypoplasia

Bilateral Optic Nerve Hypoplasia

Optic Nerve Hypoplasia, Familial Bilateral

Familial Bilateral Optic Nerve Hypoplasia

Isolated Optic Nerve Hypoplasia/Aplasia

Optic Nerve Aplasia, Bilateral

Onh

BONH

Bilateral Optic Nerve Aplasia

Hypoplasia, Optic Nerve, Bilateral

Cerebral Palsy

Infantile Cerebral Palsy

Mixed Cerebral Palsy

Palsy Cerebral

Palsy, Cerebral

Cerebral Palsy, Mixed

Brain Small Vessel Disease 1

Col4a1-Related Brain Small Vessel Disease With Hemorrhage

Col4a1-Related Familial Vascular Leukoencephalopathy

Col4a1-Related Retinal Arteriolar Tortuosity-Infantile Hemiparesis-Autosomal Dominant Leukoencephalopathy Syndrome

Autosomal Dominant Retinal Arteriolar Tortuosity, Infantile Hemiparesis, And Leukencephalopathy

Brain Small Vessel Disease With Axenfeld-Riegar Anomaly

Brain Small Vessel Disease With Hemorrhage

Brain Small Vessel Disease With Or Without Ocular Anomalies

Bsvd1

Infantile Hemiparesis

Leukoencephalopathy With Axenfeld-Riegar Anomaly

Brain Small Vessel Disease 3

BSVD3

Alport Syndrome

Hereditary Nephritis

Alport Syndrome, X-Linked

Hemorrhagic Hereditary Nephritis

Congenital Hereditary Hematuria

Hemorrhagic Familial Nephritis

Familial Nephritis

Thin Basement Membrane Disease

Thin Basement Membrane Nephropathy

Hematuria-Nephropathy-Deafness Syndrome

Hematuric Hereditary Nephritis

Hereditary Familial Congenital Hemorrhagic Nephritis

Hereditary Hematuria Syndrome

Hereditary Interstitial Pyelonephritis

Alport Deafness-Nephropathy

Alport Hearing Loss-Nephropathy

Alports Syndrome

Nephritis, Hereditary

Hemiplegia

Infantile Hemiplegia

Postnatal Infantile Hemiplegia

Hemiplegia, Infantile

Retinal Arteries, Tortuosity Of

Retinal Arterial Tortuosity

Retinal Hemorrhage With Vascular Tortuosity

RATOR

Tortuosity Of Retinal Arteries

Retinal Arteriolar Tortuosity

Familial Isolated Retinal Arterial Tortuosity

Tortuosity, Arteries, Retinal

Aortic Valve Prolapse
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations

Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations

Crv

Rvcl

Rvcl-S

Vasculopathy, Retinal, With Cerebral Leukodystrophy

Retinopathy, Vascular, With Cerebral And Renal Involvement And Raynaud And Migraine Phenomena

Retinal Vasculopathy With Cerebral Leukodystrophy

Retinal Vasculopathy And Cerebral Leukoencephalopathy

Hereditary Vascular Retinopathy

Hvr

RVCLS

Cerebroretinal Vasculopathy, Hereditary

Cerebroretinal Vasculopathy

Herns

Vasculopathy, Retinal, With Cerebral Leukodystrophy, Formerly

Hereditary Cerebroretinal Vasculopathy

Hereditary Endotheliopathy, Retinopathy, Nephropathy, Stroke

Hereditary Systemic Angiopathy

Hsa

Retinal Vasculopathy With Cerebral Leukodystrophy With Systemic Manifestations

Adrvcl

Autosomal Dominant Retinal Vasculopathy With Cerebral Leukodystrophy

Hereditary Endotheliopathy With Retinopathy-Nephropathy-Stroke

Vascular Retinopathy With Cerebral And Renal Involvement And Raynaud And Migraine Phenomena

Spastic Hemiplegia

Spastic Hemiplegic Cerebral Palsy

Hemiplegic Cerebral Palsy

Congenital Hemiplegia

Hemiplegic Infantile Cerebral Palsy

Cerebral Palsy Spastic Hemiplegic

Spastic Hemiplegia Cerebral Palsy

Hemiplegia, Spastic

Keratoconus

Kc

Conical Cornea

Noninflammatory Corneal Thining

Bulging Cornea

Cornea Conical

Acquired Conus Of Cornea

X-Linked Alport Syndrome

Nephropathy And Deafness, X-Linked

Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2

CADASIL2

Cadasil 2

Autosomal Dominant Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy Type 2

Htra1-Related Autosomal Dominant Cerebral Small Vessel Disease

Htra1-Related Autosomal Dominant Cerebral Angiopathy

Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, 2

Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy, Autosomal Dominant, 2

Hematuria, Benign Familial

Benign Familial Hematuria

BFH

Thin Membrane Nephropathy

Tmn

Thin Basement Membrane Nephropathy

Thin-Basement-Membrane Nephropathy

Hematuria, Familial Benign

Hematuria Benign Familial

Hematuria, Benign, Familial

Thin Basement Membrane Disease

Autosomal Dominant Alport Syndrome

Alport Syndrome, Autosomal Dominant

Alport Syndrome Dominant Type

Renal Failure And Sensorineural Hearing Loss

Alport Syndrome, Dominant Type

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

Lung Cancer

Lung Carcinoma

Non-Small Cell Lung Carcinoma

Lung Cancer, Susceptibility To

Lung Cancer, Protection Against

Adenocarcinoma Of Lung, Somatic

Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer

Lung Neoplasm

Carcinoma Of Lung

Lung Non-Small Cell Carcinoma

Non-Small Cell Lung Cancer

Nsclc

Lung Neoplasms

Malignant Neoplasm Of Lung

Alveolar Cell Carcinoma

Nonsmall Cell Lung Cancer, Somatic

Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer, Susceptibility To

Lung Cancer, Somatic

Lung Cancer, Resistance To

Cancer Of Lung

Cancer Of Bronchus

Cancer Of The Lung

Lung Malignancies

Lung Malignant Tumors

Malignant Lung Tumor

Malignant Tumor Of Lung

Pulmonary Cancer

Pulmonary Carcinoma

Pulmonary Neoplasms

Respiratory Carcinoma

LNCR

Adenocarcinoma Of Lung

Neoplasm Of Lung

Cancer Lung

Carcinoma Non-Small Cell Lung

Carcinoma, Non-Small-Cell Lung

Lung Cancers

Lung Carcinomas

Cancer, Lung

Cancer, Lung, Non-Small Cell

Primary Malignant Neoplasm Of Lung

Bronchioloalveolar Adenocarcinoma

Spastic Cerebral Palsy

Palsy, Cerebral, Spastic

Infantile Hemiplegia Nos

Postnatal Infantile Hemiplegia Nos

Congenital Spastic Hemiplegia

Spastic Hemiplegic Cerebral Palsy

Congenital Hemiplegia Nos

Hemiplegic Cerebral Palsy

Hemiplegic Infantile Cerebral Palsy

Amebiasis

Amoebiasis

Entamoebiasis

Chronic Intestinal Amebiasis

Amoebiasis, Unspecified

Amebic Colitis

Amoebic Enteritis

Infection Due To Entamoeba Histolytica

Amoebic Infection

Disease Due To Endamoebidae

Amoebiasis Nos

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

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

Walker-Warburg Syndrome

Hard Syndrome

Walker-Warburg Congenital Muscular Dystrophy

Cerebroocular Dysplasia-Muscular Dystrophy Syndrome

Cod-Md Syndrome

Chemke Syndrome

Hydrocephalus, Agyria And Retinal Dysplasia

Cerebroocular Dysgenesis

Cerebroocular Dysplasia Muscular Dystrophy Syndrome

Hard +/- E Syndrome

Pagon Syndrome

Warburg Syndrome

Hydrocephalus, Agyria, And Retinal Dysplasia

Mddga

Muscular Dystrophy-Dystroglycanopathy , Type A

Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A

Hydrocephalus-Agyria-Retinal Dysplasia Syndrome

Wws

Dystrophy, Muscular, Dystroglycanopathy, Type A

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
Bos taurus COL4A2 VGNC VGNC:50082
Macaca mulatta COL4A2 VGNC VGNC:106255
Felis catus COL4A2 VGNC VGNC:61061
Mus musculus COL4A2 MGD MGI:88455
Canis familiaris COL4A2 VGNC VGNC:39474
Rattus norvegicus COL4A2 RGD RGD:1308085
Others COL4A2 NCBI