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Aliases for COL4A1 Gene

Aliases for COL4A1 Gene

  • Collagen Type IV Alpha 1 Chain 2 3 5
  • Collagen Of Basement Membrane, Alpha-1 Chain 3
  • Collagen IV, Alpha-1 Polypeptide 3
  • Collagen, Type IV, Alpha 1 2
  • Collagen Alpha-1(IV) Chain 3
  • COL4A1 NC1 Domain 3
  • EC 6.3.1.2 58
  • EC 3.4.23 58
  • Arresten 3
  • RATOR 3
  • BSVD 3

External Ids for COL4A1 Gene

Previous GeneCards Identifiers for COL4A1 Gene

  • GC13M109161
  • GC13M105188
  • GC13M109638
  • GC13M108499
  • GC13M109599
  • GC13M110801
  • GC13M091400

Summaries for COL4A1 Gene

Entrez Gene Summary for COL4A1 Gene

  • This gene encodes a type IV collagen alpha protein. Type IV collagen proteins are integral components of basement membranes. This gene shares a bidirectional promoter with a paralogous gene on the opposite strand. The protein consists of an amino-terminal 7S domain, a triple-helix forming collagenous domain, and a carboxy-terminal non-collagenous domain. It functions as part of a heterotrimer and interacts with other extracellular matrix components such as perlecans, proteoglycans, and laminins. In addition, proteolytic cleavage of the non-collagenous carboxy-terminal domain results in a biologically active fragment known as arresten, which has anti-angiogenic and tumor suppressor properties. Mutations in this gene cause porencephaly, cerebrovascular disease, and renal and muscular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

GeneCards Summary for COL4A1 Gene

COL4A1 (Collagen Type IV Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL4A1 include Brain Small Vessel Disease With Or Without Ocular Anomalies and Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps. Among its related pathways are miRNA targets in ECM and membrane receptors and Cell adhesion_Plasmin signaling. GO annotations related to this gene include extracellular matrix structural constituent and extracellular matrix constituent conferring elasticity. An important paralog of this gene is COL4A5.

UniProtKB/Swiss-Prot for COL4A1 Gene

  • Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a chicken-wire meshwork together with laminins, proteoglycans and entactin/nidogen.

  • Arresten, comprising the C-terminal NC1 domain, inhibits angiogenesis and tumor formation. The C-terminal half is found to possess the anti-angiogenic activity. Specifically inhibits endothelial cell proliferation, migration and tube formation. Inhibits expression of hypoxia-inducible factor 1alpha and ERK1/2 and p38 MAPK activation. Ligand for alpha1/beta1 integrin.

Gene Wiki entry for COL4A1 Gene

Additional gene information for COL4A1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COL4A1 Gene

Genomics for COL4A1 Gene

Regulatory Elements for COL4A1 Gene

Enhancers for COL4A1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH13H110386 1.9 FANTOM5 Ensembl ENCODE dbSUPER 22.3 -93.7 -93702 28 PKNOX1 ATF1 FEZF1 BRCA1 ZNF2 YY1 GLIS2 GATA2 ZNF143 ATF7 COL4A1 COL4A2 ANKRD10-IT1 COL4A2-AS2 ANKRD10 RAB20 GC13P110400 ENSG00000275611
GH13H110321 1.8 FANTOM5 Ensembl ENCODE dbSUPER 15 -25.8 -25790 23 INSM2 KLF17 FEZF1 ZNF2 ETS1 ZNF366 ZSCAN5C SCRT2 FOS ATF7 COL4A1 COL4A2 MIR8073
GH13H110136 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.5 +169.5 169472 3 ATF1 SIN3A GLIS2 ELK1 ZNF143 FOS ATF7 REST ZNF518A GLIS1 COL4A2 COL4A1 RAB20 IRS2 LOC101927712 LOC105370361
GH13H110242 1.5 FANTOM5 Ensembl ENCODE dbSUPER 13 +59.8 59787 9 CTCF ZSCAN4 REST RAD21 NR2F2 ZFHX2 POLR2A SMC3 RCOR1 MAFK COL4A1 COL4A2 RAB20 IRS2 ENSG00000279237 LOC101927712
GH13H110370 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.3 -65.7 -65675 5 PKNOX1 TBL1XR1 JUN MAX SIN3A EBF1 RELA POLR2A EED RCOR1 COL4A1 COL4A2 ING1 GC13P110400 MIR8073
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around COL4A1 on UCSC Golden Path with GeneCards custom track

Promoters for COL4A1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000065805 -43 4001 ZSCAN5A SUZ12 ZNF76 SIN3A RAD21 ZNF2 E2F1 ZFHX2 GATA3 GLIS2

Genomic Location for COL4A1 Gene

Chromosome:
13
Start:
110,148,958 bp from pter
End:
110,307,157 bp from pter
Size:
158,200 bases
Orientation:
Minus strand

Genomic View for COL4A1 Gene

Genes around COL4A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COL4A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COL4A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COL4A1 Gene

Proteins for COL4A1 Gene

  • Protein details for COL4A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P02462-CO4A1_HUMAN
    Recommended name:
    Collagen alpha-1(IV) chain
    Protein Accession:
    P02462
    Secondary Accessions:
    • A7E2W4
    • B1AM70
    • Q1P9S9
    • Q5VWF6
    • Q86X41
    • Q8NF88
    • Q9NYC5

    Protein attributes for COL4A1 Gene

    Size:
    1669 amino acids
    Molecular mass:
    160615 Da
    Quaternary structure:
    • There are six type IV collagen isoforms, alpha 1(IV)-alpha 6(IV), each of which can form a triple helix structure with 2 other chains to generate type IV collagen network.

    Three dimensional structures from OCA and Proteopedia for COL4A1 Gene

    Alternative splice isoforms for COL4A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COL4A1 Gene

Selected DME Specific Peptides for COL4A1 Gene

P02462:
  • GFPGPQG
  • VTGLVGI

Post-translational modifications for COL4A1 Gene

  • Lysines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in all cases and bind carbohydrates.
  • Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
  • Proteolytic processing produces the C-terminal NC1 peptide, arresten.
  • The trimeric structure of the NC1 domains is stabilized by covalent bonds between Lys and Met residues.
  • Type IV collagens contain numerous cysteine residues which are involved in inter- and intramolecular disulfide bonding. 12 of these, located in the NC1 domain, are conserved in all known type IV collagens.
  • Glycosylation at Asn126
  • Modification sites at PhosphoSitePlus

Other Protein References for COL4A1 Gene

Antibody Products

  • R&D Systems Antibodies for COL4A1 (Collagen IV alpha 1)

Assay Products

Domains & Families for COL4A1 Gene

Gene Families for COL4A1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for COL4A1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P02462

UniProtKB/Swiss-Prot:

CO4A1_HUMAN :
  • Alpha chains of type IV collagen have a non-collagenous domain (NC1) at their C-terminus, frequent interruptions of the G-X-Y repeats in the long central triple-helical domain (which may cause flexibility in the triple helix), and a short N-terminal triple-helical 7S domain.
  • Belongs to the type IV collagen family.
Domain:
  • Alpha chains of type IV collagen have a non-collagenous domain (NC1) at their C-terminus, frequent interruptions of the G-X-Y repeats in the long central triple-helical domain (which may cause flexibility in the triple helix), and a short N-terminal triple-helical 7S domain.
Family:
  • Belongs to the type IV collagen family.
genes like me logo Genes that share domains with COL4A1: view

Function for COL4A1 Gene

Molecular function for COL4A1 Gene

GENATLAS Biochemistry:
collagen type IV,alpha 1,basement membrane,all tissues,expressed in the dermoepidermal junction during fetal skin development
UniProtKB/Swiss-Prot Function:
Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a chicken-wire meshwork together with laminins, proteoglycans and entactin/nidogen.
UniProtKB/Swiss-Prot Function:
Arresten, comprising the C-terminal NC1 domain, inhibits angiogenesis and tumor formation. The C-terminal half is found to possess the anti-angiogenic activity. Specifically inhibits endothelial cell proliferation, migration and tube formation. Inhibits expression of hypoxia-inducible factor 1alpha and ERK1/2 and p38 MAPK activation. Ligand for alpha1/beta1 integrin.

Enzyme Numbers (IUBMB) for COL4A1 Gene

Phenotypes From GWAS Catalog for COL4A1 Gene

Gene Ontology (GO) - Molecular Function for COL4A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent IMP 16107487
GO:0005515 protein binding IPI 12011424
GO:0030023 extracellular matrix constituent conferring elasticity IC 16107487
GO:0048407 platelet-derived growth factor binding IDA 8900172
genes like me logo Genes that share ontologies with COL4A1: view
genes like me logo Genes that share phenotypes with COL4A1: view

Human Phenotype Ontology for COL4A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for COL4A1

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for COL4A1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
  • R&D Systems cDNA Clones for COL4A1 (Collagen IV alpha 1)

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for COL4A1 Gene

Localization for COL4A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COL4A1 Gene

Secreted, extracellular space, extracellular matrix, basement membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for COL4A1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
plasma membrane 2
nucleus 2
cytosol 2
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for COL4A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005581 collagen trimer IEA --
GO:0005587 collagen type IV trimer IMP 16107487
GO:0005604 basement membrane IC 23065703
genes like me logo Genes that share ontologies with COL4A1: view

Pathways & Interactions for COL4A1 Gene

genes like me logo Genes that share pathways with COL4A1: view

Gene Ontology (GO) - Biological Process for COL4A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001569 branching involved in blood vessel morphogenesis IMP 20818663
GO:0007420 brain development IMP 16107487
GO:0007528 neuromuscular junction development IEA --
GO:0030198 extracellular matrix organization TAS --
GO:0030574 collagen catabolic process TAS --
genes like me logo Genes that share ontologies with COL4A1: view

No data available for SIGNOR curated interactions for COL4A1 Gene

Drugs & Compounds for COL4A1 Gene

(1) Drugs for COL4A1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for COL4A1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with COL4A1: view

Transcripts for COL4A1 Gene

Unigene Clusters for COL4A1 Gene

Collagen, type IV, alpha 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for COL4A1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
  • R&D Systems cDNA Clones for COL4A1 (Collagen IV alpha 1)

Alternative Splicing Database (ASD) splice patterns (SP) for COL4A1 Gene

No ASD Table

Relevant External Links for COL4A1 Gene

GeneLoc Exon Structure for
COL4A1
ECgene alternative splicing isoforms for
COL4A1

Expression for COL4A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for COL4A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for COL4A1 Gene

This gene is overexpressed in Artery - Coronary (x4.8) and Artery - Tibial (x4.2).

Protein differential expression in normal tissues from HIPED for COL4A1 Gene

This gene is overexpressed in Amniocyte (24.5), Gallbladder (7.0), Colon muscle (6.3), and Adipocyte (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for COL4A1 Gene



Protein tissue co-expression partners for COL4A1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of COL4A1 Gene:

COL4A1

SOURCE GeneReport for Unigene cluster for COL4A1 Gene:

Hs.17441

mRNA Expression by UniProt/SwissProt for COL4A1 Gene:

P02462-CO4A1_HUMAN
Tissue specificity: Highly expressed in placenta.

Evidence on tissue expression from TISSUES for COL4A1 Gene

  • Nervous system(4.6)
  • Liver(4.3)
  • Lung(3.5)
  • Heart(3.4)
  • Kidney(3.2)
  • Pancreas(3)
  • Eye(2.6)
  • Muscle(2.5)
  • Bone(2.1)
  • Intestine(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for COL4A1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • pituitary gland
  • skull
  • tongue
Thorax:
  • breast
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • kidney
  • large intestine
Pelvis:
  • anus
  • ovary
  • pelvis
  • penis
  • prostate
  • rectum
  • testicle
  • ureter
  • urinary bladder
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with COL4A1: view

Primer Products

Orthologs for COL4A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for COL4A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COL4A1 33 34
  • 99.15 (n)
dog
(Canis familiaris)
Mammalia COL4A1 33 34
  • 84.45 (n)
rat
(Rattus norvegicus)
Mammalia Col4a1 33
  • 84.1 (n)
mouse
(Mus musculus)
Mammalia Col4a1 33 16 34
  • 83.48 (n)
cow
(Bos Taurus)
Mammalia COL4A1 33 34
  • 83.4 (n)
oppossum
(Monodelphis domestica)
Mammalia COL4A1 34
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COL4A1 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves COL4A1 33 34
  • 69.83 (n)
lizard
(Anolis carolinensis)
Reptilia COL4A1 34
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia col4a1 33
  • 64.36 (n)
zebrafish
(Danio rerio)
Actinopterygii col4a1 33 34
  • 61.26 (n)
fruit fly
(Drosophila melanogaster)
Insecta Cg25C 35
  • 41 (a)
vkg 34
  • 37 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea let-2 35 34
  • 66 (a)
emb-9 34
  • 46 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10972 34
  • 46 (a)
ManyToMany
CSA.6298 34
  • 43 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3677 33
Species where no ortholog for COL4A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for COL4A1 Gene

ENSEMBL:
Gene Tree for COL4A1 (if available)
TreeFam:
Gene Tree for COL4A1 (if available)

Paralogs for COL4A1 Gene

(8) SIMAP similar genes for COL4A1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with COL4A1: view

Variants for COL4A1 Gene

Sequence variations from dbSNP and Humsavar for COL4A1 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
VAR_030028 Brain small vessel disease with or without ocular anomalies (BSVD) [MIM:607595]
VAR_030029 Porencephaly 1 (POREN1) [MIM:175780]
VAR_030030 Porencephaly 1 (POREN1) [MIM:175780]
VAR_030031 Porencephaly 1 (POREN1) [MIM:175780]
VAR_030032 Porencephaly 1 (POREN1) [MIM:175780]

Structural Variations from Database of Genomic Variants (DGV) for COL4A1 Gene

Variant ID Type Subtype PubMed ID
dgv241n27 CNV loss 19166990
dgv3391n54 CNV loss 21841781
esv1710742 CNV deletion 17803354
esv2741067 CNV deletion 23290073
esv2748000 CNV deletion 23290073
esv2748001 CNV deletion 23290073
esv2748002 CNV deletion 23290073
esv2748003 CNV deletion 23290073
esv27869 CNV loss 19812545
esv3081 CNV loss 18987735
esv3551075 CNV deletion 23714750
esv3551076 CNV deletion 23714750
nsv1038914 CNV loss 25217958
nsv1046423 CNV gain 25217958
nsv1052147 CNV gain 25217958
nsv1070197 CNV deletion 25765185
nsv1134350 CNV deletion 24896259
nsv1138269 CNV deletion 24896259
nsv1145695 CNV deletion 24896259
nsv1182 CNV deletion 18451855
nsv456115 CNV loss 19166990
nsv520696 CNV loss 19592680
nsv521901 CNV loss 19592680
nsv523051 CNV loss 19592680
nsv563100 CNV loss 21841781
nsv563101 CNV loss 21841781
nsv563104 CNV gain 21841781
nsv563105 CNV gain 21841781
nsv64357 CNV deletion 16902084
nsv957463 CNV deletion 24416366

Variation tolerance for COL4A1 Gene

Residual Variation Intolerance Score: 1.48% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.09; 95.09% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for COL4A1 Gene

Human Gene Mutation Database (HGMD)
COL4A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COL4A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL4A1 Gene

Disorders for COL4A1 Gene

MalaCards: The human disease database

(29) MalaCards diseases for COL4A1 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
brain small vessel disease with or without ocular anomalies
  • col4a1-related familial vascular leukoencephalopathy
angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps
  • hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
retinal arteries, tortuosity of
  • retinal arterial tortuosity
porencephaly 1
  • autosomal dominant type 1 porencephaly
hemorrhage, intracerebral
  • stroke, hemorrhagic
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CO4A1_HUMAN
  • Brain small vessel disease with or without ocular anomalies (BSVD) [MIM:607595]: An autosomal dominant disease characterized by weakening of the blood vessels in the brain and retinal arteriolar tortuosity. In affected individuals, stroke is often the first symptom and is usually caused by bleeding in the brain (hemorrhagic stroke) rather than a lack of blood flow in the brain (ischemic stroke). Patients also have leukoencephalopathy and may experience seizures and migraine headaches accompanied by visual sensations known as auras. {ECO:0000269 PubMed:16598045, ECO:0000269 PubMed:17379824, ECO:0000269 PubMed:17696175, ECO:0000269 PubMed:19477666, ECO:0000269 PubMed:20385946, ECO:0000269 PubMed:22574627, ECO:0000269 PubMed:23394911, ECO:0000269 PubMed:24628545}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773]: The clinical renal manifestations include hematuria and bilateral large cysts. Histologic analysis revealed complex basement membrane defects in kidney and skin. The systemic angiopathy appears to affect both small vessels and large arteries. {ECO:0000269 PubMed:18160688, ECO:0000269 PubMed:20818663}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Intracerebral hemorrhage (ICH) [MIM:614519]: A pathological condition characterized by bleeding into one or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with hypertension and craniocerebral trauma. Intracerebral bleeding is a common cause of stroke. {ECO:0000269 PubMed:22522439}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Porencephaly 1 (POREN1) [MIM:175780]: A neurologic disorder characterized by a fluid-filled cysts or cavities within the cerebral hemispheres, neurologic manifestations, facial paresis, and visual defects. Affected individuals typically have hemiplegia, seizures, and intellectual disability. Porencephaly type 1 is usually unilateral and results from focal destructive lesions such as fetal vascular occlusion or birth trauma. {ECO:0000269 PubMed:15905400, ECO:0000269 PubMed:16107487, ECO:0000269 PubMed:19194877}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Schizencephaly (SCHZC) [MIM:269160]: Extremely rare human congenital disorder characterized by a full-thickness cleft within the cerebral hemispheres. These clefts are lined with gray matter and most commonly involve the parasylvian regions. Large portions of the cerebral hemispheres may be absent and replaced by cerebro-spinal fluid. {ECO:0000269 PubMed:23225343}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Tortuosity of retinal arteries (RATOR) [MIM:180000]: A disease characterized by marked tortuosity of second- and third-order retinal arteries with normal first-order arteries and venous system. Most patients manifest variable degrees of symptomatic transient vision loss due to retinal hemorrhage following minor stress or trauma. {ECO:0000269 PubMed:25228067}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for COL4A1

Genetic Association Database (GAD)
COL4A1
Human Genome Epidemiology (HuGE) Navigator
COL4A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COL4A1
genes like me logo Genes that share disorders with COL4A1: view

No data available for Genatlas for COL4A1 Gene

Publications for COL4A1 Gene

  1. COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage. (PMID: 19194877) de Vries LS … Mancini G (Annals of neurology 2009) 3 4 22 60
  2. Characterization of the anti-angiogenic properties of arresten, an alpha1beta1 integrin-dependent collagen-derived tumor suppressor. (PMID: 18775695) Nyberg P … Kalluri R (Experimental cell research 2008) 3 4 22 60
  3. Genetic risk for myocardial infarction determined by polymorphisms of candidate genes in a Japanese population. (PMID: 18077766) Yamada Y … Nozawa Y (Journal of medical genetics 2008) 3 22 45 60
  4. COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps. (PMID: 18160688) Plaisier E … Ronco P (The New England journal of medicine 2007) 3 4 22 60
  5. Human alpha1 type IV collagen NC1 domain exhibits distinct antiangiogenic activity mediated by alpha1beta1 integrin. (PMID: 16151532) Sudhakar A … Kalluri R (The Journal of clinical investigation 2005) 3 4 22 60

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