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Aliases for COL4A5 Gene

Aliases for COL4A5 Gene

  • Collagen Type IV Alpha 5 Chain 2 3 5
  • Collagen, Type IV, Alpha 5 2 3
  • Collagen Of Basement Membrane, Alpha-5 Chain 3
  • Collagen IV, Alpha-5 Polypeptide 3
  • Collagen Alpha-5(IV) Chain 3
  • Collagen Type IV Alpha 5 2
  • Alport Syndrome 2
  • DA149D17.3 3
  • DA24A23.1 3
  • CA54 3
  • ASLN 3
  • ATS 3

External Ids for COL4A5 Gene

Previous HGNC Symbols for COL4A5 Gene

  • ASLN
  • ATS

Previous GeneCards Identifiers for COL4A5 Gene

  • GC0XP103090
  • GC0XP104759
  • GC0XP105716
  • GC0XP106455
  • GC0XP107489
  • GC0XP107683
  • GC0XP097305

Summaries for COL4A5 Gene

Entrez Gene Summary for COL4A5 Gene

  • This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Mutations in this gene are associated with X-linked Alport syndrome, also known as hereditary nephritis. 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. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Aug 2010]

GeneCards Summary for COL4A5 Gene

COL4A5 (Collagen Type IV Alpha 5 Chain) is a Protein Coding gene. Diseases associated with COL4A5 include Alport Syndrome and Alport Syndrome And Thin Basement Membrane Nephropathy. Among its related pathways are Collagen biosynthesis and modifying enzymes and RET signaling. GO annotations related to this gene include extracellular matrix structural constituent. An important paralog of this gene is COL4A1.

UniProtKB/Swiss-Prot for COL4A5 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.

Gene Wiki entry for COL4A5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COL4A5 Gene

Genomics for COL4A5 Gene

Regulatory Elements for COL4A5 Gene

Enhancers for COL4A5 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
GH0XF108395 1.3 FANTOM5 Ensembl ENCODE 16.8 -41.2 -41195 6.9 TBP JUN TEAD4 MAX BRCA1 ZNF664 GATA3 FOS ZNF652 TCF7L2 COL4A5 COL4A6 ENSG00000189372 GC0XP108425
GH0XF108353 0.5 ENCODE 11.9 -86.2 -86207 0.7 CTBP1 GATA3 DPF2 ENSG00000189372 COL4A5 COL4A6 GC0XP108251
GH0XF108437 1 ENCODE 5.1 +0.3 268 5.0 PKNOX1 ATF1 CREB3L1 SIN3A FEZF1 ZNF2 ZNF766 ZNF263 SP3 ZHX2 COL4A5 GC0XP108517
GH0XF108297 1.1 Ensembl ENCODE 4.2 -140.8 -140808 2.6 SOX13 CTCF SAP130 DMAP1 ZNF48 ZSCAN9 ZNF644 RAD21 RARA ZNF316 COL4A5 FRMPD3 GC0XP108251 ENSG00000189372
GH0XF108307 1.2 FANTOM5 ENCODE 2.7 -130.9 -130873 3.1 ELF3 TBP FEZF1 BRCA1 RAD21 RFX5 YY1 FOS EGR2 CEBPB PSMD10 COL4A5 COL4A6 GC0XP108251 ENSG00000189372
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around COL4A5 on UCSC Golden Path with GeneCards custom track

Promoters for COL4A5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001737558 465 5599 PKNOX1 ATF1 CREB3L1 FEZF1 ZNF2 ZNF766 ZNF263 SP3 ZHX2 REST

Genomic Location for COL4A5 Gene

Chromosome:
X
Start:
108,439,736 bp from pter
End:
108,697,545 bp from pter
Size:
257,810 bases
Orientation:
Plus strand

Genomic View for COL4A5 Gene

Genes around COL4A5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COL4A5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COL4A5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COL4A5 Gene

Proteins for COL4A5 Gene

  • Protein details for COL4A5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P29400-CO4A5_HUMAN
    Recommended name:
    Collagen alpha-5(IV) chain
    Protein Accession:
    P29400
    Secondary Accessions:
    • Q16006
    • Q16126
    • Q6LD84
    • Q7Z700
    • Q9NUB7

    Protein attributes for COL4A5 Gene

    Size:
    1685 amino acids
    Molecular mass:
    161044 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.

    Alternative splice isoforms for COL4A5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COL4A5 Gene

Post-translational modifications for COL4A5 Gene

  • 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.
  • Glycosylation at Asn 125
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for COL4A5 Gene

Domains & Families for COL4A5 Gene

Gene Families for COL4A5 Gene

Suggested Antigen Peptide Sequences for COL4A5 Gene

Graphical View of Domain Structure for InterPro Entry

P29400

UniProtKB/Swiss-Prot:

CO4A5_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.
  • Contains 1 collagen IV NC1 (C-terminal non-collagenous) domain.
Family:
  • Belongs to the type IV collagen family.
genes like me logo Genes that share domains with COL4A5: view

Function for COL4A5 Gene

Molecular function for COL4A5 Gene

GENATLAS Biochemistry:
collagen type IV,alpha 5,homotrimerizing and heterotrimerizing with COL4A3,COL4A4 kidney restricted,located in glomerular basement membrane,Bowman capsule,distal tubules,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.

Gene Ontology (GO) - Molecular Function for COL4A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent IEA --
genes like me logo Genes that share ontologies with COL4A5: view
genes like me logo Genes that share phenotypes with COL4A5: view

Human Phenotype Ontology for COL4A5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for COL4A5 Gene

MGI Knock Outs for COL4A5:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for COL4A5 Gene

Localization for COL4A5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COL4A5 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 COL4A5 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
plasma membrane 2
lysosome 1

Gene Ontology (GO) - Cellular Components for COL4A5 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 IEA,TAS --
GO:0005604 basement membrane IEA --
genes like me logo Genes that share ontologies with COL4A5: view

Pathways & Interactions for COL4A5 Gene

genes like me logo Genes that share pathways with COL4A5: view

Gene Ontology (GO) - Biological Process for COL4A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007528 neuromuscular junction development IEA --
GO:0030198 extracellular matrix organization TAS --
GO:0030574 collagen catabolic process TAS --
GO:0038063 collagen-activated tyrosine kinase receptor signaling pathway IEA --
genes like me logo Genes that share ontologies with COL4A5: view

No data available for SIGNOR curated interactions for COL4A5 Gene

Drugs & Compounds for COL4A5 Gene

(4) Drugs for COL4A5 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for COL4A5 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with COL4A5: view

Transcripts for COL4A5 Gene

Unigene Clusters for COL4A5 Gene

Collagen, type IV, alpha 5:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for COL4A5 Gene

No ASD Table

Relevant External Links for COL4A5 Gene

GeneLoc Exon Structure for
COL4A5
ECgene alternative splicing isoforms for
COL4A5

Expression for COL4A5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for COL4A5 Gene

mRNA differential expression in normal tissues according to GTEx for COL4A5 Gene

This gene is overexpressed in Esophagus - Gastroesophageal Junction (x8.4) and Esophagus - Muscularis (x6.8).

Protein differential expression in normal tissues from HIPED for COL4A5 Gene

This gene is overexpressed in Heart (24.6), Lung (16.0), Amniocyte (7.4), Gallbladder (7.4), and Urinary Bladder (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for COL4A5 Gene



NURSA nuclear receptor signaling pathways regulating expression of COL4A5 Gene:

COL4A5

SOURCE GeneReport for Unigene cluster for COL4A5 Gene:

Hs.369089

mRNA Expression by UniProt/SwissProt for COL4A5 Gene:

P29400-CO4A5_HUMAN
Tissue specificity: Isoform 2 is found in kidney.
genes like me logo Genes that share expression patterns with COL4A5: view

Primer Products

No data available for Protein tissue co-expression partners for COL4A5 Gene

Orthologs for COL4A5 Gene

This gene was present in the common ancestor of animals.

Orthologs for COL4A5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COL4A5 34 35
  • 99.62 (n)
dog
(Canis familiaris)
Mammalia COL4A5 35
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia COL4A5 35
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Col4a5 34 16 35
  • 88.78 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia COL4A5 35
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COL4A5 35
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves COL4A5 35
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COL4A5 35
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.15674 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.23713 34
zebrafish
(Danio rerio)
Actinopterygii col4a5 35
  • 66 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta vkg 35
  • 38 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea let-2 36 35
  • 66 (a)
emb-9 36 35
  • 39 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10972 35
  • 48 (a)
ManyToMany
CSA.6298 35
  • 45 (a)
ManyToMany
Species where no ortholog for COL4A5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • rat (Rattus norvegicus)
  • 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 COL4A5 Gene

ENSEMBL:
Gene Tree for COL4A5 (if available)
TreeFam:
Gene Tree for COL4A5 (if available)

Paralogs for COL4A5 Gene

genes like me logo Genes that share paralogs with COL4A5: view

Variants for COL4A5 Gene

Sequence variations from dbSNP and Humsavar for COL4A5 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs104886043 Alport syndrome, X-linked (APSX) [MIM:301050], Pathogenic 108,559,083(+) TCCAG(A/G)TTTGG reference, missense
rs104886055 Alport syndrome, X-linked (APSX) [MIM:301050], Pathogenic 108,573,628(+) ATCCA(C/G)GATAT reference, missense
rs104886056 Alport syndrome, X-linked (APSX) [MIM:301050], Alport syndrome, X-linked (APSX) [MIM:301050], Pathogenic 108,573,637(+) ATCCA(C/G/T)GTCCT reference, missense
rs104886060 Alport syndrome, X-linked (APSX) [MIM:301050], Pathogenic 108,575,937(+) TACCA(A/G)GGCCA reference, missense
rs104886063 Alport syndrome, X-linked (APSX) [MIM:301050], Pathogenic 108,577,953(+) TTAGG(A/G/T)CCCTC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for COL4A5 Gene

Variant ID Type Subtype PubMed ID
nsv7031 CNV insertion 18451855
nsv519041 CNV gain 19592680
esv3574301 CNV loss 25503493

Variation tolerance for COL4A5 Gene

Residual Variation Intolerance Score: 84% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.52; 71.92% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for COL4A5 Gene

Human Gene Mutation Database (HGMD)
COL4A5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COL4A5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL4A5 Gene

Disorders for COL4A5 Gene

MalaCards: The human disease database

(21) MalaCards diseases for COL4A5 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
alport syndrome
  • alport syndrome, x-linked
alport syndrome and thin basement membrane nephropathy
  • alport syndromebenign familial hematuria
col4a5-related nephropathy
leiomyomatosis
  • leiomyomatosis, no icd-o subtype
x-linked diffuse leiomyomatosis-alport syndrome
  • xq22.3 microdeletion syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CO4A5_HUMAN
  • Alport syndrome, X-linked (APSX) [MIM:301050]: A syndrome that is characterized by progressive glomerulonephritis, renal failure, sensorineural deafness, specific eye abnormalities (lenticonous and macular flecks), and glomerular basement membrane defects. 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:10094548, ECO:0000269 PubMed:10561141, ECO:0000269 PubMed:10563487, ECO:0000269 PubMed:10684360, ECO:0000269 PubMed:10862091, ECO:0000269 PubMed:11004279, ECO:0000269 PubMed:11223851, ECO:0000269 PubMed:1352287, ECO:0000269 PubMed:1363780, ECO:0000269 PubMed:1376965, ECO:0000269 PubMed:1672282, ECO:0000269 PubMed:24522658, ECO:0000269 PubMed:7599631, ECO:0000269 PubMed:7853788, ECO:0000269 PubMed:8406498, ECO:0000269 PubMed:8651292, ECO:0000269 PubMed:8651296, ECO:0000269 PubMed:8829632, ECO:0000269 PubMed:8940267, ECO:0000269 PubMed:9150741, ECO:0000269 PubMed:9452056, ECO:0000269 PubMed:9848783}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Deletions covering the N-terminal regions of COL4A5 and COL4A6, which are localized in a head-to-head manner, are found in the chromosome Xq22.3 centromeric deletion syndrome. This results in a phenotype with features of diffuse leiomyomatosis and Alport syndrome (DL-ATS).

Relevant External Links for COL4A5

Genetic Association Database (GAD)
COL4A5
Human Genome Epidemiology (HuGE) Navigator
COL4A5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COL4A5
genes like me logo Genes that share disorders with COL4A5: view

No data available for Genatlas for COL4A5 Gene

Publications for COL4A5 Gene

  1. Phenotypic and genotypic features of Alport syndrome in Chinese children. (PMID: 12478350) Wang F. … Yang J. (Pediatr. Nephrol. 2002) 3 22 46 64
  2. Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP. (PMID: 11223851) Barker D.F. … Gregory M.C. (Am. J. Med. Genet. 2001) 3 4 22 64
  3. Mutational analysis of COL4A5 gene in Korean Alport syndrome. (PMID: 10684360) Cheong H.I. … Choi Y. (Pediatr. Nephrol. 2000) 3 4 22 64
  4. Dot-and-fleck retinopathy in Alport syndrome caused by a novel mutation in the COL4A5 gene. (PMID: 11004279) Blasi M.A. … Grammatico P. (Am. J. Ophthalmol. 2000) 3 4 22 64
  5. Spectrum of COL4A5 mutations in Finnish Alport syndrome patients. (PMID: 10862091) Martin P. … Tryggvason K. (Hum. Mutat. 2000) 3 4 22 64

Products for COL4A5 Gene

Sources for COL4A5 Gene

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