This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. 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, alpha 5 type IV collagen, so that the gene pair shares a common promoter. Deletions in the alpha 5 gene that exte... See more...

Aliases for COL4A6 Gene

Aliases for COL4A6 Gene

  • Collagen Type IV Alpha 6 Chain 2 3 5
  • Collagen, Type IV, Alpha 6 2 3
  • Collagen Alpha-6(IV) Chain 3 4
  • Collagen Of Basement Membrane, Alpha-6 3
  • DJ889N15.4 (Collagen Alpha 6(IV)) 3
  • Collagen IV, Alpha-6 Polypeptide 3
  • CXDELq22.3 3
  • EC 2.7.7.8 50
  • DELXq22.3 3
  • COL4A6 5
  • DFNX6 3

External Ids for COL4A6 Gene

Previous GeneCards Identifiers for COL4A6 Gene

  • GC0XM102806
  • GC0XM104474
  • GC0XM105431
  • GC0XM106170
  • GC0XM107204
  • GC0XM107285
  • GC0XM107386
  • GC0XM097021

Summaries for COL4A6 Gene

Entrez Gene Summary for COL4A6 Gene

  • This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. 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, alpha 5 type IV collagen, so that the gene pair shares a common promoter. Deletions in the alpha 5 gene that extend into the alpha 6 gene result in diffuse leiomyomatosis accompanying the X-linked Alport syndrome caused by the deletion in the alpha 5 gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]

GeneCards Summary for COL4A6 Gene

COL4A6 (Collagen Type IV Alpha 6 Chain) is a Protein Coding gene. Diseases associated with COL4A6 include Deafness, X-Linked 6 and X-Linked Non-Syndromic Sensorineural Deafness Type Dfn. Among its related pathways are Collagen chain trimerization and Integrin Pathway. Gene Ontology (GO) annotations related to this gene include structural molecule activity and extracellular matrix structural constituent. An important paralog of this gene is COL4A4.

UniProtKB/Swiss-Prot Summary for COL4A6 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 COL4A6 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for COL4A6 Gene

Genomics for COL4A6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for COL4A6 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 CraniofacialAtlas 250.7 -0.7 -704 7.6 IKZF1 ZNF600 ATF2 ZNF10 POLR2A CHD2 FEZF1 ZNF639 ZNF341 ZEB1 COL4A5 COL4A6 NONHSAG055082.2-001 lnc-COL4A6-2 piR-61945-542 IRS4
GH0XJ108395 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 14.8 +41.0 40956 6.9 ATF2 BRCA1 BCL11A CEBPB MAX EP300 MBD2 STAT3 TBP EBF1 COL4A5 COL4A6 ENSG00000189372 piR-41306-279 lnc-COL4A6-2 ATG4A
GH0XJ108353 Enhancer 0.5 Ensembl ENCODE 12 +85.3 85297 6.8 ZNF664 PKNOX1 COL4A5 ENSG00000189372 COL4A6 RF00017-7993 lnc-COL4A6-2 ATG4A
GH0XJ108373 Enhancer 0.4 Ensembl 12.4 +64.8 64796 2.6 PKNOX1 DPF2 EGR2 FOS COL4A5 COL4A6 ENSG00000189372 lnc-COL4A6-2 RF00017-7993 ATG4A
GH0XJ108411 Enhancer 0.4 Ensembl 13.3 +26.7 26696 2.4 ZNF10 FEZF1 ZNF335 COL4A5 COL4A6 piR-41306-279 lnc-COL4A6-2 ENSG00000189372 ATG4A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COL4A6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for COL4A6

Top Transcription factor binding sites by QIAGEN in the COL4A6 gene promoter:
  • HOXA5
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4

Genomic Locations for COL4A6 Gene

Latest Assembly
chrX:108,155,607-108,439,497
(GRCh38/hg38)
Size:
283,891 bases
Orientation:
Minus strand

Previous Assembly
chrX:107,398,844-107,682,688
(GRCh37/hg19 by Entrez Gene)
Size:
283,845 bases
Orientation:
Minus strand

chrX:107,386,780-107,682,727
(GRCh37/hg19 by Ensembl)
Size:
295,948 bases
Orientation:
Minus strand

Genomic View for COL4A6 Gene

Genes around COL4A6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COL4A6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COL4A6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COL4A6 Gene

Proteins for COL4A6 Gene

  • Protein details for COL4A6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14031-CO4A6_HUMAN
    Recommended name:
    Collagen alpha-6(IV) chain
    Protein Accession:
    Q14031
    Secondary Accessions:
    • Q12823
    • Q14053
    • Q5JYH6
    • Q5JYH8
    • Q9NQM5
    • Q9NTX3
    • Q9UJ76
    • Q9UMG6
    • Q9Y4L4

    Protein attributes for COL4A6 Gene

    Size:
    1691 amino acids
    Molecular mass:
    163807 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 COL4A6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COL4A6 Gene

Selected DME Specific Peptides for COL4A6 Gene

Q14031:
  • LPGKDGL
  • LPGRDGL

Post-translational modifications for COL4A6 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 Asn127
  • Modification sites at PhosphoSitePlus

Domains & Families for COL4A6 Gene

Gene Families for COL4A6 Gene

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

Protein Domains for COL4A6 Gene

InterPro:
Blocks:
  • Type 4 procollagen, C-terminal repeat
  • Collagen triple helix repeat
  • Collagen helix repeat

Suggested Antigen Peptide Sequences for COL4A6 Gene

GenScript: Design optimal peptide antigens:
  • COL4A6 protein (B2RTX6_HUMAN)
  • cDNA FLJ57675, highly similar to Collagen alpha-6(IV) chain (B4DZ39_HUMAN)
  • COL4A6 protein (B7ZMM7_HUMAN)
  • Collagen alpha-6(IV) chain (CO4A6_HUMAN)
  • COL4A6 protein (Q6NSE8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q14031

UniProtKB/Swiss-Prot:

CO4A6_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 COL4A6: view

Function for COL4A6 Gene

Molecular function for COL4A6 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 6,basement membrane,expressed in kidney renal tubules,not located in glomerular BM,also expressed in esophagus and lung and in the dermoepidermal junction during fetal skin development

Enzyme Numbers (IUBMB) for COL4A6 Gene

Phenotypes From GWAS Catalog for COL4A6 Gene

Gene Ontology (GO) - Molecular Function for COL4A6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent IEA,IBA 21873635
GO:0005515 protein binding IPI 32814053
GO:0030020 extracellular matrix structural constituent conferring tensile strength RCA 25037231
genes like me logo Genes that share ontologies with COL4A6: view
genes like me logo Genes that share phenotypes with COL4A6: view

Human Phenotype Ontology for COL4A6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for COL4A6 Gene

MGI Knock Outs for COL4A6:

miRNA for COL4A6 Gene

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COL4A6

No data available for Transcription Factor Targets and HOMER Transcription for COL4A6 Gene

Localization for COL4A6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COL4A6 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 COL4A6 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
plasma membrane 2
cytoskeleton 1
mitochondrion 1
nucleus 1
cytosol 1
lysosome 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for COL4A6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005581 collagen trimer IEA --
GO:0005587 collagen type IV trimer IEA,NAS 8125972
GO:0005604 basement membrane IEA --
GO:0005615 extracellular space IBA 21873635
genes like me logo Genes that share ontologies with COL4A6: view

Pathways & Interactions for COL4A6 Gene

PathCards logo

SuperPathways for COL4A6 Gene

SuperPathway Contained pathways
1 Collagen chain trimerization
.48
.46
2 Integrin Pathway
.67
.67
.56
.56
.50
.38
3 ERK Signaling
.61
.61
.58
.51
.49
4 Focal Adhesion
5 PI3K-Akt signaling pathway
genes like me logo Genes that share pathways with COL4A6: view

Pathways by source for COL4A6 Gene

5 GeneGo (Thomson Reuters) pathways for COL4A6 Gene
  • Cell adhesion Integrin-mediated cell adhesion and migration
  • Cell adhesion_ECM remodeling
  • Cell adhesion_Endothelial cell contacts by non-junctional mechanisms
  • Cell adhesion_Plasmin signaling
  • Cytoskeleton remodeling Integrin outside-in signaling
15 Qiagen pathways for COL4A6 Gene
  • Blood Coagulation Cascade
  • ERK Signaling
  • FAK1 Signaling
  • GnRH Signaling
  • ILK Signaling

Gene Ontology (GO) - Biological Process for COL4A6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0030198 extracellular matrix organization IEA,TAS --
GO:0038063 collagen-activated tyrosine kinase receptor signaling pathway IEA,IBA 21873635
GO:0071230 cellular response to amino acid stimulus IEA --
genes like me logo Genes that share ontologies with COL4A6: view

No data available for SIGNOR curated interactions for COL4A6 Gene

Drugs & Compounds for COL4A6 Gene

No Compound Related Data Available

Transcripts for COL4A6 Gene

mRNA/cDNA for COL4A6 Gene

5 REFSEQ mRNAs :
27 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COL4A6

Alternative Splicing Database (ASD) splice patterns (SP) for COL4A6 Gene

No ASD Table

Relevant External Links for COL4A6 Gene

GeneLoc Exon Structure for
COL4A6

Expression for COL4A6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for COL4A6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for COL4A6 Gene

This gene is overexpressed in Esophagus - Gastroesophageal Junction (x17.6) and Esophagus - Muscularis (x14.4).

Protein differential expression in normal tissues from HIPED for COL4A6 Gene

This gene is overexpressed in Gallbladder (32.5), Pancreas (15.3), and Heart (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for COL4A6 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for COL4A6

SOURCE GeneReport for Unigene cluster for COL4A6 Gene:

Hs.145586

Evidence on tissue expression from TISSUES for COL4A6 Gene

  • Kidney(4.4)
  • Eye(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for COL4A6 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • urinary
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • head
  • inner ear
  • mouth
  • pharynx
Thorax:
  • bronchus
  • esophagus
  • trachea
Abdomen:
  • intestine
  • kidney
  • large intestine
  • stomach
Pelvis:
  • rectum
  • ureter
  • urinary bladder
  • vagina
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with COL4A6: view

Primer products for research

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for COL4A6 Gene

Orthologs for COL4A6 Gene

This gene was present in the common ancestor of animals.

Orthologs for COL4A6 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia COL4A6 29 30
  • 99.04 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia COL4A6 29 30
  • 86.25 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia COL4A6 29 30
  • 86.09 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Col4a6 29 16 30
  • 81.99 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Col4a6 29
  • 80.99 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia COL4A6 30
  • 58 (a)
OneToOne
Chicken
(Gallus gallus)
Aves COL4A6 29 30
  • 65.69 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia COL4A6 30
  • 63 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia col4a6 29
  • 62.23 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.3640 29
Zebrafish
(Danio rerio)
Actinopterygii col4a6 29 30
  • 57.07 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Cg25C 31
  • 39 (a)
vkg 31
  • 38 (a)
Worm
(Caenorhabditis elegans)
Secernentea let-2 31
  • 71 (a)
emb-9 31
  • 40 (a)
Species where no ortholog for COL4A6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Oppossum (Monodelphis domestica)
  • 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 Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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 COL4A6 Gene

ENSEMBL:
Gene Tree for COL4A6 (if available)
TreeFam:
Gene Tree for COL4A6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for COL4A6: view image
Alliance of Genome Resources:
Additional Orthologs for COL4A6

Paralogs for COL4A6 Gene

(9) SIMAP similar genes for COL4A6 Gene using alignment to 9 proteins:

  • CO4A6_HUMAN
  • A8MXH5_HUMAN
  • B2RTX6_HUMAN
  • B4DZ39_HUMAN
  • B7ZMM7_HUMAN
  • F5H3Q5_HUMAN
  • F5H851_HUMAN
  • Q6NSE8_HUMAN
  • Q9UEH6_HUMAN
genes like me logo Genes that share paralogs with COL4A6: view

Variants for COL4A6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for COL4A6 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
1032773 Pathogenic: Deafness, X-linked 6 108,202,970(-) C/CCCTG
NM_033641.4(COL4A6):c.788_791dup (p.Pro265fs)
FRAMESHIFT
928644 Uncertain Significance: not specified 108,192,535(-) C/T
NM_033641.4(COL4A6):c.1118G>A (p.Gly373Glu)
MISSENSE
982952 Likely Benign: Deafness, X-linked 6 108,159,632(-) C/T
NM_033641.4(COL4A6):c.4642G>A (p.Ala1548Thr)
MISSENSE
rs1042065 Benign: not specified 108,190,458(-) A/Gp.Ser455Alap.Ser455Pro
NM_033641.4(COL4A6):c.1360T>C (p.Ser454Pro)
MISSENSE
rs1050017866 Uncertain Significance: not provided 108,191,400(-) G/GCCTGGTGGA
NM_033641.4(COL4A6):c.1305_1313dup (p.432_434GPP[4])
INFRAME_INSERTION

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for COL4A6 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for COL4A6 Gene

Variant ID Type Subtype PubMed ID
dgv2361e212 CNV gain 25503493
esv9265 CNV gain 19470904
nsv1125117 CNV duplication 24896259
nsv476288 CNV novel sequence insertion 20440878

Variation tolerance for COL4A6 Gene

Residual Variation Intolerance Score: 94.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.02; 60.39% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COL4A6 Gene

Human Gene Mutation Database (HGMD)
COL4A6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COL4A6
Leiden Open Variation Database (LOVD)
COL4A6

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL4A6 Gene

Disorders for COL4A6 Gene

MalaCards: The human disease database

(22) MalaCards diseases for COL4A6 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
deafness, x-linked 6
  • dfnx6
x-linked non-syndromic sensorineural deafness type dfn
  • x-linked isolated neurosensory deafness type dfn
leiomyomatosis
alport syndrome
  • hereditary nephritis
x-linked alport syndrome
  • nephropathy and deafness, x-linked
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CO4A6_HUMAN
  • 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).
  • Deafness, X-linked, 6 (DFNX6) [MIM:300914]: A non-syndromic form of sensorineural hearing loss with prelingual onset. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269 PubMed:23714752}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for COL4A6

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with COL4A6: view

No data available for Genatlas for COL4A6 Gene

Publications for COL4A6 Gene

  1. Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors. (PMID: 8356449) Zhou J … Reeders ST (Science (New York, N.Y.) 1993) 2 3 4 22
  2. Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6. (PMID: 23714752) Rost S … Kunstmann E (European journal of human genetics : EJHG 2014) 3 4 72
  3. Structure of the human type IV collagen COL4A6 gene, which is mutated in Alport syndrome-associated leiomyomatosis. (PMID: 8661006) Zhang X … Tryggvason K (Genomics 1996) 3 4 22
  4. Clonal overgrowth of esophageal smooth muscle cells in diffuse leiomyomatosis-Alport syndrome caused by partial deletion in COL4A5 and COL4A6 genes. (PMID: 20951201) Oohashi T … Ninomiya Y (Matrix biology : journal of the International Society for Matrix Biology 2011) 3 72
  5. Identification of fetal and maternal single nucleotide polymorphisms in candidate genes that predispose to spontaneous preterm labor with intact membranes. (PMID: 20452482) Romero R … Menon R (American journal of obstetrics and gynecology 2010) 3 40

Products for COL4A6 Gene

Sources for COL4A6 Gene