Free for academic non-profit institutions. Other users need a Commercial license

COL4A3 Gene(Protein Coding)

Collagen Type IV Alpha 3 Chain

GCID:
GC02P227164
GIFtS:
65
Genes Participants
UDN Logo

Aliases for COL4A3 Gene

Aliases for COL4A3 Gene

  • Collagen Type IV Alpha 3 Chain 2 3 5
  • Collagen, Type IV, Alpha 3 (Goodpasture Antigen) 2 3
  • Tumstatin 2 3
  • Collagen IV, Alpha-3 Polypeptide 3
  • Collagen Alpha-3(IV) Chain 3
  • Goodpasture Antigen 4

External Ids for COL4A3 Gene

Previous GeneCards Identifiers for COL4A3 Gene

  • GC02P226051
  • GC02P226750
  • GC02P227993
  • GC02P228231
  • GC02P227854
  • GC02P227737
  • GC02P219872

Summaries for COL4A3 Gene

Entrez Gene Summary for COL4A3 Gene

  • Type IV collagen, the major structural component of basement membranes, is a multimeric protein composed of 3 alpha subunits. These subunits are encoded by 6 different genes, alpha 1 through alpha 6, each of which can form a triple helix structure with 2 other subunits to form type IV collagen. This gene encodes alpha 3. In the Goodpasture syndrome, autoantibodies bind to the collagen molecules in the basement membranes of alveoli and glomeruli. The epitopes that elicit these autoantibodies are localized largely to the non-collagenous C-terminal domain of the protein. A specific kinase phosphorylates amino acids in this same C-terminal region and the expression of this kinase is upregulated during pathogenesis. This gene is also linked to an autosomal recessive form of Alport syndrome. The mutations contributing to this syndrome are also located within the exons that encode this C-terminal region. 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, Jun 2010]

GeneCards Summary for COL4A3 Gene

COL4A3 (Collagen Type IV Alpha 3 Chain) is a Protein Coding gene. Diseases associated with COL4A3 include Alport Syndrome, Autosomal Dominant and Hematuria, Benign Familial. Among its related pathways are Collagen chain trimerization and Phospholipase-C Pathway. GO annotations related to this gene include structural molecule activity and extracellular matrix structural constituent. An important paralog of this gene is COL4A5.

UniProtKB/Swiss-Prot for COL4A3 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.

  • Tumstatin, a cleavage fragment corresponding to the collagen alpha 3(IV) NC1 domain, possesses both anti-angiogenic and anti-tumor cell activity; these two anti-tumor properties may be regulated via RGD-independent ITGB3-mediated mechanisms.

Gene Wiki entry for COL4A3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COL4A3 Gene

Genomics for COL4A3 Gene

Products:

  1. Regulatory Element

Regulatory Elements for COL4A3 Gene

Enhancers for COL4A3 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
GH02G226984 1.7 FANTOM5 Ensembl ENCODE dbSUPER 4.7 -179.6 -179618 1.8 FOXA2 RAD21 GATA2 CBX5 ZNF143 RELB ETV6 IKZF2 CREM ZNF654 IRS1 RHBDD1 COL4A3 GC02M226993 GC02M226970 ENSG00000212391
GH02G227311 0.8 dbSUPER 9.3 +148.2 148200 3.0 CTCF SOX13 FOXA2 ATF1 ARID4B DMAP1 TEAD3 NCOR1 CREM MAFK MFF AGFG1 COL4A3 CCL20 LOC654841 GC02P227300
GH02G227227 0.9 Ensembl ENCODE 7.9 +63.8 63765 0.9 PKNOX1 KLF1 MXI1 MAX CEBPB KLF17 ZIC2 ZNF692 MYC ZBTB20 COL4A3 GC02P227300
GH02G227189 0.5 ENCODE 11.5 +23.9 23895 0.2 JUND ASH2L GABPA NR2F2 COL4A4 COL4A3 GC02P227300
GH02G227188 0.4 ENCODE 11.5 +24.4 24420 0.6 POLR2A NR2F2 COL4A4 COL4A3 GC02P227300
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around COL4A3 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the COL4A3 gene promoter:

Genomic Location for COL4A3 Gene

Chromosome:
2
Start:
227,164,565 bp from pter
End:
227,314,792 bp from pter
Size:
150,228 bases
Orientation:
Plus strand

Genomic View for COL4A3 Gene

Genes around COL4A3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COL4A3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COL4A3 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for COL4A3 Gene

Proteins for COL4A3 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for COL4A3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q01955-CO4A3_HUMAN
    Recommended name:
    Collagen alpha-3(IV) chain
    Protein Accession:
    Q01955
    Secondary Accessions:
    • Q53QQ1
    • Q53R14
    • Q53RW8
    • Q9BQT2
    • Q9NYC4
    • Q9UDJ9
    • Q9UDK9
    • Q9UDL0
    • Q9UDL1

    Protein attributes for COL4A3 Gene

    Size:
    1670 amino acids
    Molecular mass:
    161813 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. The alpha 3(IV) chain forms a triple helical protomer with alpha 4(IV) and alpha 5(IV); this triple helical structure dimerizes through NC1-NC1 domain interactions such that the alpha 3(IV), alpha 4(IV) and alpha 5(IV) chains of one protomer connect with the alpha 5(IV), alpha 4(IV) and alpha 3(IV) chains of the opposite promoter, respectively. Interacts with COL4A3BP AND ITGB3. Associates with LAMB2 at the neuromuscular junction and in GBM (By similarity).
    Miscellaneous:
    • The epitopes recognized by the Goodpasture autoantibodies are sequestered within the NC1 hexamer of the type IV collagen network.

    Alternative splice isoforms for COL4A3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COL4A3 Gene

Protein Expression for COL4A3 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for COL4A3 Gene

  • Isoform 2 contains an additional N-linked glycosylation site.
  • Phosphorylated by the Goodpasture antigen-binding protein/COL4A3BP.
  • Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
  • 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.
  • Ubiquitination at posLast=14141414
  • Glycosylation at Asn253
  • Modification sites at PhosphoSitePlus

Other Protein References for COL4A3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for COL4A3
  • Cloud-Clone Corp. Antibodies for COL4A3
  • Santa Cruz Biotechnology (SCBT) Antibodies for COL4A3

No data available for DME Specific Peptides for COL4A3 Gene

Domains & Families for COL4A3 Gene

Gene Families for COL4A3 Gene

HGNC:

Protein Domains for COL4A3 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for COL4A3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q01955

UniProtKB/Swiss-Prot:

CO4A3_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 COL4A3: view

Function for COL4A3 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for COL4A3 Gene

GENATLAS Biochemistry:
collagen type IV,alpha 3,glomerular basement membrane,Bowman capsule,distal TBM,neuromuscular junction,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:
Tumstatin, a cleavage fragment corresponding to the collagen alpha 3(IV) NC1 domain, possesses both anti-angiogenic and anti-tumor cell activity; these two anti-tumor properties may be regulated via RGD-independent ITGB3-mediated mechanisms.

Gene Ontology (GO) - Molecular Function for COL4A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005178 integrin binding TAS 10766752
GO:0005198 structural molecule activity NAS 3025878
GO:0005201 extracellular matrix structural constituent IEA --
GO:0005515 protein binding IPI 10212244
GO:0008191 metalloendopeptidase inhibitor activity NAS 10766752
genes like me logo Genes that share ontologies with COL4A3: view
genes like me logo Genes that share phenotypes with COL4A3: view

Human Phenotype Ontology for COL4A3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for COL4A3 Gene

MGI Knock Outs for COL4A3:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for COL4A3 Gene

Localization for COL4A3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COL4A3 Gene

Secreted, extracellular space, extracellular matrix, basement membrane. Note=Colocalizes with COL4A4 and COL4A5 in GBM, tubular basement membrane (TBM) and synaptic basal lamina (BL). {ECO:0000250}.

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 COL4A3 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
nucleus 3
plasma membrane 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for COL4A3 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 IDA 10766752
GO:0005604 basement membrane IDA,IEA 10766752
genes like me logo Genes that share ontologies with COL4A3: view

Pathways & Interactions for COL4A3 Gene

genes like me logo Genes that share pathways with COL4A3: view

Gene Ontology (GO) - Biological Process for COL4A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process IDA 10766752
GO:0007155 cell adhesion IEA --
GO:0007166 cell surface receptor signaling pathway NAS 10766752
GO:0007605 sensory perception of sound TAS 7987396
GO:0008015 blood circulation TAS 10766752
genes like me logo Genes that share ontologies with COL4A3: view

No data available for SIGNOR curated interactions for COL4A3 Gene

Drugs & Compounds for COL4A3 Gene

Products:

  1. Drug

(1) Drugs for COL4A3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for COL4A3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with COL4A3: view

Transcripts for COL4A3 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for COL4A3 Gene

(12) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(60) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for COL4A3 Gene

Collagen, type IV, alpha 3 (Goodpasture antigen):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for COL4A3 Gene

No ASD Table

Relevant External Links for COL4A3 Gene

GeneLoc Exon Structure for
COL4A3
ECgene alternative splicing isoforms for
COL4A3

Expression for COL4A3 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for COL4A3 Gene

mRNA expression in normal human tissues for COL4A3 Gene
mRNA expression by BioGPS for COL4A3 GenemRNA expression by GTEx for COL4A3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for COL4A3 Gene

This gene is overexpressed in Kidney - Cortex (x8.1), Muscle - Skeletal (x6.1), and Thyroid (x4.8).

Protein differential expression in normal tissues from HIPED for COL4A3 Gene

This gene is overexpressed in Heart (17.4), Esophagus (9.6), Bone marrow mesenchymal stem cell (9.5), and Lung (9.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for COL4A3 Gene



NURSA nuclear receptor signaling pathways regulating expression of COL4A3 Gene:

COL4A3

SOURCE GeneReport for Unigene cluster for COL4A3 Gene:

Hs.570065

mRNA Expression by UniProt/SwissProt for COL4A3 Gene:

Q01955-CO4A3_HUMAN
Tissue specificity: Alpha 3 and alpha 4 type IV collagens are colocalized and present in kidney, eye, basement membranes of lens capsule, cochlea, lung, skeletal muscle, aorta, synaptic fibers, fetal kidney and fetal lung. PubMed:8083201 reports similar levels of expression of alpha 3 and alpha 4 type IV collagens in kidney, but PubMed:7523402 reports that in kidney levels of alpha 3 type IV collagen are significantly lower than those of alpha 4 type IV collagen. According to PubMed:8083201, alpha 3 type IV collagen is not detected in heart, brain, placenta, liver, pancreas, extrasynaptic muscle fibers, endoneurial and perineurial nerves, fetal brain, fetal heart and fetal liver. According to PubMed:7523402, alpha 3 type IV collagen is strongly expressed in pancreas, neuroretina and calvaria and not expressed in adrenal, ileum and skin. Isoform 1 and isoform 3 are strongly expressed in kidney, lung, suprarenal capsule, muscle and spleen, in each of these tissues isoform 1 is more abundant than isoform 3. Isoform 1 and isoform 3 are expressed at low levels in artery, fat, pericardium and peripherical nerve, but not in placenta, mesangium, skin, pleura and cultured umbilical endothelial cells.

Evidence on tissue expression from TISSUES for COL4A3 Gene

  • Kidney(4.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for COL4A3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • eyelid
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • diaphragm
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • kidney
Pelvis:
  • pelvis
  • ureter
  • urinary bladder
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
  • coagulation system
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with COL4A3: view

Primer Products

No data available for Protein tissue co-expression partners for COL4A3 Gene

Orthologs for COL4A3 Gene

This gene was present in the common ancestor of animals.

Orthologs for COL4A3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia COL4A3 34 35
  • 99.2 (n)
dog
(Canis familiaris)
 Mammalia COL4A3 34 35
  • 86.64 (n)
cow
(Bos Taurus)
 Mammalia COL4A3 34 35
  • 85.25 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia COL4A3 35
  • 82 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Col4a3 34 16 35
  • 81.49 (n)
rat
(Rattus norvegicus)
 Mammalia Col4a3 34
  • 80.98 (n)
oppossum
(Monodelphis domestica)
 Mammalia COL4A3 35
  • 72 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves COL4A3 34 35
  • 61.63 (n)
lizard
(Anolis carolinensis)
 Reptilia COL4A3 35
  • 58 (a)
 OneToOne
zebrafish
(Danio rerio)
 Actinopterygii col4a3 35
  • 45 (a)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta vkg 35
  • 35 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea let-2 36 35
  • 56 (a)
emb-9 36 35
  • 38 (a)
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.10972 35
  • 42 (a)
 ManyToMany
CSA.6298 35
  • 42 (a)
 ManyToMany
Species where no ortholog for COL4A3 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for COL4A3 Gene

ENSEMBL:
Gene Tree for COL4A3 (if available)
TreeFam:
Gene Tree for COL4A3 (if available)

Paralogs for COL4A3 Gene

Paralogs for COL4A3 Gene

(10) SIMAP similar genes for COL4A3 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with COL4A3: view

Variants for COL4A3 Gene

Sequence variations from dbSNP and Humsavar for COL4A3 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs121912826 Pathogenic, Hematuria, benign familial (BFH) [MIM:141200] 227,290,062(+) ACCAG(A/G)AAGCA intron-variant, nc-transcript-variant, reference, missense
rs121912827 Pathogenic, Hematuria, benign familial (BFH) [MIM:141200] 227,289,222(+) CAAAG(A/G/T)ACTAC intron-variant, nc-transcript-variant, reference, missense
rs190598500 Alport syndrome, autosomal recessive (APSAR) [MIM:203780] 227,298,759(+) ACCCT(A/G)GCCCA intron-variant, nc-transcript-variant, reference, missense
rs200443942 Alport syndrome, autosomal recessive (APSAR) [MIM:203780] 227,297,752(+) ACCTC(A/G)AGGAC intron-variant, nc-transcript-variant, downstream-variant-500B, reference, missense
rs200672668 Likely pathogenic, Alport syndrome, autosomal recessive (APSAR) [MIM:203780] 227,273,108(+) CACCC(A/G)GAGAA intron-variant, nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for COL4A3 Gene

Variant ID Type Subtype PubMed ID
esv1219477 CNV insertion 17803354
esv1344671 CNV deletion 17803354
esv1431099 CNV insertion 17803354
esv2721549 CNV deletion 23290073
esv2721551 CNV deletion 23290073
esv2721552 CNV deletion 23290073
esv2721553 CNV deletion 23290073
esv3561099 CNV deletion 23714750
esv3584367 CNV loss 25503493
esv3594529 CNV loss 21293372
nsv1127803 CNV deletion 24896259
nsv1131556 CNV deletion 24896259
nsv1136476 CNV deletion 24896259
nsv478537 CNV novel sequence insertion 20440878
nsv521800 CNV loss 19592680
nsv584594 CNV gain 21841781
nsv584606 CNV loss 21841781
nsv954213 CNV deletion 24416366

Variation tolerance for COL4A3 Gene

Residual Variation Intolerance Score: 64.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.33; 97.07% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for COL4A3 Gene

Human Gene Mutation Database (HGMD)
COL4A3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COL4A3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL4A3 Gene

Disorders for COL4A3 Gene

MalaCards: The human disease database

(19) MalaCards diseases for COL4A3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
alport syndrome, autosomal dominant
  • autosomal dominant alport syndrome
hematuria, benign familial
  • thin basement membrane nephropathy
alport syndrome, autosomal recessive
  • autosomal recessive alport syndrome
col4a3-related nephropathy
alport syndrome
  • alport syndrome, x-linked
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CO4A3_HUMAN
  • Alport syndrome, autosomal dominant (APSAD) [MIM:104200]: A syndrome characterized by progressive glomerulonephritis, glomerular basement membrane defects, renal failure, sensorineural deafness and specific eye abnormalities (lenticonous and macular flecks). The disorder shows considerable heterogeneity in that families differ in the age of end-stage renal disease and the occurrence of deafness. {ECO:0000269 PubMed:11044206, ECO:0000269 PubMed:11134255}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Alport syndrome, autosomal recessive (APSAR) [MIM:203780]: A syndrome characterized by progressive glomerulonephritis, glomerular basement membrane defects, renal failure, sensorineural deafness and specific eye abnormalities (lenticonous and macular flecks). The disorder shows considerable heterogeneity in that families differ in the age of end-stage renal disease and the occurrence of deafness. {ECO:0000269 PubMed:11134255, ECO:0000269 PubMed:15954103}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hematuria, benign familial (BFH) [MIM:141200]: An autosomal dominant condition characterized by non-progressive isolated microscopic hematuria that does not result in renal failure. It is characterized pathologically by thinning of the glomerular basement membrane. {ECO:0000269 PubMed:11961012}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Autoantibodies against the NC1 domain of alpha 3(IV) are found in Goodpasture syndrome, an autoimmune disease of lung and kidney.

Relevant External Links for COL4A3

Genetic Association Database (GAD)
COL4A3
Human Genome Epidemiology (HuGE) Navigator
COL4A3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COL4A3
genes like me logo Genes that share disorders with COL4A3: view

No data available for Genatlas for COL4A3 Gene

Publications for COL4A3 Gene

  1. Molecular cloning of the human Goodpasture antigen demonstrates it to be the alpha 3 chain of type IV collagen. (PMID: 1737849) Turner N. … Pusey C.D. (J. Clin. Invest. 1992) 2 3 4 22 64
  2. Polymorphisms in COL4A3 and COL4A4 genes associated with keratoconus. (PMID: 20029656) Stabuc-Silih M. … Strazisar M. (Mol. Vis. 2009) 3 22 46 64
  3. Polymorphisms in the type IV collagen alpha3 gene and the risk of COPD. (PMID: 18385178) Kim K.M. … Park J.Y. (Eur. Respir. J. 2008) 3 22 46 64
  4. Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome. (PMID: 15954103) Nagel M. … Gross O. (Hum. Mutat. 2005) 3 4 22 64
  5. Implication of tumstatin in tumor progression of human bronchopulmonary carcinomas. (PMID: 15492988) Caudroy S. … Birembaut P. (Hum. Pathol. 2004) 3 4 22 64

Products for COL4A3 Gene

  • Cloud-Clone Corp. Antibodies for COL4A3
  • Cloud-Clone Corp. Proteins for COL4A3
  • Cloud-Clone Corp Assay Kits for COL4A3

Sources for COL4A3 Gene

Content
Loading form....