COL4A2 - collagen type IV alpha 2 chain Gene

Also Known as ICH; BSVD2; POREN2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1284

About 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.

Summary

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 Products (1)

mRNA	Protein	Name
NM_001846.4	NP_001837.2	collagen alpha-2(IV) chain preproprotein

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables molecular adaptor activity	EXP EXP: Inferred from Experiment	30443360	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12011424	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in endodermal cell differentiation	IEP IEP: Inferred from expression pattern	23154389	GOA
involved in negative regulation of angiogenesis	IDA IDA: Inferred from direct assay	10625665	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

COL4A2 Protein Structure

Collagen

0
300
600
900
1200
1500
1712 a.a.

Protein Preferred Names	Protein Names
collagen alpha-2(IV) chain	canstatin

Recombinant COL4A2 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P72147	COL4A2 Protein, Human (His)	P08572 (V1493-L1712)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
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

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02984	COL4A2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18703	Col4a2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25190	Col4a2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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