COL4A2 Chromosome 13
Collagen type IV alpha 2 chain
Upload your DNA to see your personal genotypes for variants in COL4A2.
What This Gene Does
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]
Gene Info
Gene Group
"MicroRNA protein coding host genes|Network forming collagens"
Locus Type
gene with protein product
Location
13q34
Ensembl
ENSG00000134871
Associated Conditions (19)
Inborn genetic diseases
Porencephaly 2
Optic nerve hypoplasia
Gastric cancer
COL4A2-related disorder
See cases
Cerebral palsy
COL4A2-related cerebral small vessel disease
Bethlem myopathy 2
Hemorrhage
intracerebral
susceptibility to
Familial cancer of breast
Thyroid cancer
nonmedullary
1
Intellectual disability
Seizure
Intraventricular hemorrhage
Key Variants
RS1053256164
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1057523764
Conflicting classifications of pathogenicity
Health Risk
RS1224451609
Conflicting classifications of pathogenicity
Health Risk
RS1266666247
Conflicting classifications of pathogenicity
Porencephaly 2, Porencephaly 2
Health Risk
RS1268038830
Conflicting classifications of pathogenicity
Health Risk
RS1271683445
Conflicting classifications of pathogenicity
Porencephaly 2, Porencephaly 2
Health Risk
RS12877501
Conflicting classifications of pathogenicity
Porencephaly 2, Optic nerve hypoplasia, Inborn genetic diseases
Health Risk
RS1340849111
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1421971452
Conflicting classifications of pathogenicity
Health Risk
RS1473673298
Conflicting classifications of pathogenicity
Porencephaly 2, Porencephaly 2
Health Risk
RS1566539998
Conflicting classifications of pathogenicity
Health Risk
RS1880611671
Conflicting classifications of pathogenicity
Health Risk
All Variants (171)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS886039602 | Health Risk | Conflicting classifications of pathogenicity | Porencephaly 2, COL4A2-related disorder, Porencephaly 2 |
| RS886049980 | Health Risk | Conflicting classifications of pathogenicity | Porencephaly 2, Porencephaly 2 |
| RS895274784 | Health Risk | Conflicting classifications of pathogenicity | Porencephaly 2, Porencephaly 2 |
| RS969435078 | Health Risk | Conflicting classifications of pathogenicity | Porencephaly 2, Porencephaly 2 |
| RS974483781 | Health Risk | Conflicting classifications of pathogenicity | Porencephaly 2, Porencephaly 2 |
| RS1013146465 | Health Risk | Likely pathogenic | Cerebral palsy, Cerebral palsy |
| RS1022142909 | Health Risk | Likely pathogenic | Thyroid cancer, nonmedullary, 1 |
| RS1064797180 | Health Risk | Likely pathogenic | — |
| RS1465203402 | Health Risk | Likely pathogenic | — |
| RS1555331796 | Health Risk | Likely pathogenic | — |
| RS1555333502 | Health Risk | Likely pathogenic | — |
| RS1555333626 | Health Risk | Likely pathogenic | Porencephaly 2, Porencephaly 2 |
| RS1594088780 | Health Risk | Likely pathogenic | Porencephaly 2, Porencephaly 2 |
| RS1882225878 | Health Risk | Likely pathogenic | — |
| RS1882975083 | Health Risk | Likely pathogenic | Porencephaly 2, Porencephaly 2 |
| RS1883275009 | Health Risk | Likely pathogenic | — |
| RS1884098435 | Health Risk | Likely pathogenic | Porencephaly 2, Porencephaly 2 |
| RS2139460629 | Health Risk | Likely pathogenic | Porencephaly 2, Porencephaly 2 |
| RS2139533967 | Health Risk | Likely pathogenic | — |
| RS2139534321 | Health Risk | Likely pathogenic | Porencephaly 2, Porencephaly 2 |
| RS2139537197 | Health Risk | Likely pathogenic | Intellectual disability, Cerebral palsy, Seizure |
| RS2139538715 | Health Risk | Likely pathogenic | — |
| RS2139538791 | Health Risk | Likely pathogenic | Cerebral palsy, Cerebral palsy |
| RS2139553210 | Health Risk | Likely pathogenic | Porencephaly 2, Intraventricular hemorrhage, Porencephaly 2 |
| RS2139558301 | Health Risk | Likely pathogenic | Porencephaly 2, Porencephaly 2 |
| RS2502050500 | Health Risk | Likely pathogenic | COL4A2-related disorder, COL4A2-related disorder |
| RS2502120134 | Health Risk | Likely pathogenic | COL4A2-related disorder, COL4A2-related disorder |
| RS2502135104 | Health Risk | Likely pathogenic | Porencephaly 2, Porencephaly 2 |
| RS2502153510 | Health Risk | Likely pathogenic | Porencephaly 2, Porencephaly 2 |
| RS2502154005 | Health Risk | Likely pathogenic | — |
| RS2502158166 | Health Risk | Likely pathogenic | Porencephaly 2, Porencephaly 2 |
| RS2502163697 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2502185131 | Health Risk | Likely pathogenic | Porencephaly 2, Porencephaly 2 |
| RS2502206494 | Health Risk | Likely pathogenic | Porencephaly 2, Porencephaly 2 |
| RS745376502 | Health Risk | Likely pathogenic | — |
| RS776550709 | Health Risk | Likely pathogenic | — |
| RS1057519090 | Health Risk | Pathogenic | — |
| RS1085307983 | Health Risk | Pathogenic | — |
| RS1220432347 | Health Risk | Pathogenic | Porencephaly 2, Porencephaly 2 |
| RS1263967109 | Health Risk | Pathogenic | — |
| RS1385050944 | Health Risk | Pathogenic | — |
| RS1464563247 | Health Risk | Pathogenic | — |
| RS1566525717 | Health Risk | Pathogenic | Porencephaly 2, Porencephaly 2 |
| RS1594113653 | Health Risk | Pathogenic | Porencephaly 2, Porencephaly 2 |
| RS1880871690 | Health Risk | Pathogenic | — |
| RS1883750182 | Health Risk | Pathogenic | — |
| RS2139493765 | Health Risk | Pathogenic | — |
| RS2139504287 | Health Risk | Pathogenic | — |
| RS2139534208 | Health Risk | Pathogenic | — |
| RS2139538797 | Health Risk | Pathogenic | — |