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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, X-Linked and Kidney Disease. Among its related pathways are ERK Signaling and Cell adhesion_ECM remodeling. Gene Ontology (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

Additional gene information for COL4A5 Gene

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

Genomics for COL4A5 Gene

GeneHancer (GH) Regulatory Elements for COL4A5 Gene

Promoters and enhancers for COL4A5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ108437 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 655.1 +0.3 267 5 PKNOX1 ATF1 SIN3A FEZF1 ZNF2 ZNF213 SP3 REST ZNF518A ZNF610 COL4A5 COL4A6 GC0XP108517
GH0XJ108583 Promoter 0.5 EPDnew 650.1 +143.0 142960 0.1 COL4A5 GC0XP108517 GC0XM108677 ENSG00000207146
GH0XJ108582 Promoter 0.5 EPDnew 650.1 +142.7 142669 0.1 COL4A5 GC0XP108517 ENSG00000207146 GC0XM108677
GH0XJ108395 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 16.8 -41.2 -41195 6.9 NFIB ZBTB21 JUN MAX EBF1 BATF BRCA1 ZNF335 ZNF664 GATA3 COL4A5 COL4A6 ENSG00000189372 GC0XP108425
GH0XJ108297 Enhancer 1 Ensembl ENCODE 4.2 -140.8 -140808 2.6 SOX13 SAP130 ZSCAN4 DMAP1 ZNF644 ZNF48 RBPJ ZSCAN9 RARA ZNF316 COL4A5 FRMPD3 GC0XP108251 ENSG00000189372 COL4A6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around COL4A5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the COL4A5 gene promoter:
  • SEF-1 (1)
  • HOXA5
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v3

Genomic Locations for COL4A5 Gene

Genomic Locations for COL4A5 Gene
chrX:108,439,736-108,697,545
(GRCh38/hg38)
Size:
257,810 bases
Orientation:
Plus strand
chrX:107,683,074-107,940,775
(GRCh37/hg19)
Size:
257,702 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.
  • 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.
  • The trimeric structure of the NC1 domains is stabilized by covalent bonds between Lys and Met residues.
  • Glycosylation at posLast=125125
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for COL4A5 Gene

Domains & Families for COL4A5 Gene

Gene Families for COL4A5 Gene

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

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.
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

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.
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

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

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Lipid droplets (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for COL4A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS,IEA --
GO:0005581 collagen trimer IEA --
GO:0005587 collagen type IV trimer TAS,IEA --
GO:0005604 basement membrane IEA --
GO:0005605 basal lamina 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:

Clone 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 CGAP 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 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.

Evidence on tissue expression from TISSUES for COL4A5 Gene

  • Kidney(4.5)
  • Skin(2.4)
  • Nervous system(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for COL4A5 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • head
  • inner ear
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • pharynx
  • skull
Thorax:
  • bronchus
  • chest wall
  • clavicle
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
Abdomen:
  • intestine
  • kidney
  • large intestine
  • stomach
Pelvis:
  • pelvis
  • rectum
  • ureter
  • urinary bladder
  • vagina
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 nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with COL4A5: view

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 33
  • 99.62 (n)
OneToOne
dog
(Canis familiaris)
Mammalia COL4A5 34
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia COL4A5 34
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Col4a5 16 34 33
  • 88.78 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia COL4A5 34
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COL4A5 34
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves COL4A5 34
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COL4A5 34
  • 75 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.23713 33
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.15674 33
zebrafish
(Danio rerio)
Actinopterygii col4a5 34
  • 66 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta vkg 34
  • 38 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea let-2 34 35
  • 50 (a)
ManyToMany
emb-9 34 35
  • 48 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10972 34
  • 48 (a)
ManyToMany
CSA.6298 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for COL4A5: view image

Paralogs for COL4A5 Gene

(11) SIMAP similar genes for COL4A5 Gene using alignment to 7 proteins:

  • CO4A5_HUMAN
  • A7MBN3_HUMAN
  • H0Y998_HUMAN
  • H0Y9H0_HUMAN
  • H0Y9R8_HUMAN
  • Q49AM6_HUMAN
  • V9H0C7_HUMAN
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 Variation AA Info Type
rs1006269 benign, Alport syndrome, X-linked recessive, not specified 108,622,665(+) A/G intron_variant
rs104886042 pathogenic, Alport syndrome, X-linked recessive 108,539,783(+) G/ coding_sequence_variant, frameshift, genic_upstream_transcript_variant
rs104886043 pathogenic, Alport syndrome, X-linked recessive, Alport syndrome, X-linked (APSX) [MIM:301050] 108,559,083(+) G/A coding_sequence_variant, genic_upstream_transcript_variant, missense_variant
rs104886044 pathogenic, Alport syndrome, X-linked recessive 108,563,900(+) GGG/GG coding_sequence_variant, frameshift, genic_upstream_transcript_variant
rs104886045 pathogenic, Alport syndrome, X-linked recessive 108,568,644(+) CC/C coding_sequence_variant, frameshift, genic_upstream_transcript_variant

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)

Additional Variant Information 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

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

- 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).

Additional Disease Information for COL4A5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Pediatric nephrology (Berlin, Germany) 2002) 3 22 44 58
  2. Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP. (PMID: 11223851) Barker DF … Gregory MC (American journal of medical genetics 2001) 3 4 22 58
  3. Mutational analysis of COL4A5 gene in Korean Alport syndrome. (PMID: 10684360) Cheong HI … Choi Y (Pediatric nephrology (Berlin, Germany) 2000) 3 4 22 58
  4. Spectrum of COL4A5 mutations in Finnish Alport syndrome patients. (PMID: 10862091) Martin P … Tryggvason K (Human mutation 2000) 3 4 22 58
  5. Dot-and-fleck retinopathy in Alport syndrome caused by a novel mutation in the COL4A5 gene. (PMID: 11004279) Blasi MA … Grammatico P (American journal of ophthalmology 2000) 3 4 22 58

Products for COL4A5 Gene

Sources for COL4A5 Gene

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