This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermo... See more...

Aliases for COL7A1 Gene

Aliases for COL7A1 Gene

  • Collagen Type VII Alpha 1 Chain 2 3 5
  • LC Collagen 2 3 4
  • Collagen VII, Alpha-1 Polypeptide 2 3
  • Collagen, Type VII, Alpha 1 2 3
  • Collagen Alpha-1(VII) Chain 3 4
  • Long-Chain Collagen 3 4
  • Epidermolysis Bullosa, Dystrophic, Dominant And Recessive 2
  • COL7A1 5
  • EBDCT 3
  • NDNC8 3
  • EBD1 3
  • EBR1 3

External Ids for COL7A1 Gene

Previous HGNC Symbols for COL7A1 Gene

  • EBDCT
  • EBD1
  • EBR1

Previous GeneCards Identifiers for COL7A1 Gene

  • GC03M048391
  • GC03M047884
  • GC03M048562
  • GC03M048576
  • GC03M048602

Summaries for COL7A1 Gene

Entrez Gene Summary for COL7A1 Gene

  • This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen. [provided by RefSeq, Jul 2008]

GeneCards Summary for COL7A1 Gene

COL7A1 (Collagen Type VII Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL7A1 include Epidermolysis Bullosa Pruriginosa and Transient Bullous Dermolysis Of The Newborn. Among its related pathways are Collagen chain trimerization and Integrin Pathway. Gene Ontology (GO) annotations related to this gene include identical protein binding and serine-type endopeptidase inhibitor activity. An important paralog of this gene is COL27A1.

UniProtKB/Swiss-Prot Summary for COL7A1 Gene

  • Stratified squamous epithelial basement membrane protein that forms anchoring fibrils which may contribute to epithelial basement membrane organization and adherence by interacting with extracellular matrix (ECM) proteins such as type IV collagen.

Gene Wiki entry for COL7A1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for COL7A1 Gene

Genomics for COL7A1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for COL7A1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COL7A1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for COL7A1

Top Transcription factor binding sites by QIAGEN in the COL7A1 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • GR
  • GR-alpha
  • HEN1
  • Pax-5

Genomic Locations for COL7A1 Gene

Latest Assembly
chr3:48,564,073-48,595,329
(GRCh38/hg38)
Size:
31,257 bases
Orientation:
Minus strand

Previous Assembly
chr3:48,601,506-48,632,762
(GRCh37/hg19 by Entrez Gene)
Size:
31,257 bases
Orientation:
Minus strand

chr3:48,601,506-48,632,700
(GRCh37/hg19 by Ensembl)
Size:
31,195 bases
Orientation:
Minus strand

Genomic View for COL7A1 Gene

Genes around COL7A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COL7A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COL7A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COL7A1 Gene

Proteins for COL7A1 Gene

  • Protein details for COL7A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q02388-CO7A1_HUMAN
    Recommended name:
    Collagen alpha-1(VII) chain
    Protein Accession:
    Q02388
    Secondary Accessions:
    • Q14054
    • Q16507

    Protein attributes for COL7A1 Gene

    Size:
    2944 amino acids
    Molecular mass:
    295220 Da
    Quaternary structure:
    • Homotrimer. Interacts with MIA3/TANGO1; facilitating its loading into transport carriers and subsequent secretion.
    SequenceCaution:
    • Sequence=BAA02853.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for COL7A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COL7A1 Gene

Post-translational modifications for COL7A1 Gene

  • Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
  • Glycosylation at Asn337, Asn786, Asn1109, Lys2625, and Lys2631
  • Modification sites at PhosphoSitePlus

Antibodies for research

No data available for DME Specific Peptides for COL7A1 Gene

Domains & Families for COL7A1 Gene

Gene Families for COL7A1 Gene

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

Protein Domains for COL7A1 Gene

InterPro:
Blocks:
  • Collagen triple helix repeat
  • Collagen helix repeat
  • Von Willebrand factor type A domain signature
  • Pancreatic trypsin inhibitor (Kunitz)

Suggested Antigen Peptide Sequences for COL7A1 Gene

GenScript: Design optimal peptide antigens:
  • Collagen type VII alpha 1 (A9Z119_HUMAN)
  • Type VII collagen (B0LXL0_HUMAN)
  • Long-chain collagen (CO7A1_HUMAN)
genes like me logo Genes that share domains with COL7A1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for COL7A1 Gene

Function for COL7A1 Gene

Molecular function for COL7A1 Gene

UniProtKB/Swiss-Prot Function:
Stratified squamous epithelial basement membrane protein that forms anchoring fibrils which may contribute to epithelial basement membrane organization and adherence by interacting with extracellular matrix (ECM) proteins such as type IV collagen.
GENATLAS Biochemistry:
collagen type VII,alpha 1,anchoring fibril

Phenotypes From GWAS Catalog for COL7A1 Gene

Gene Ontology (GO) - Molecular Function for COL7A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004867 serine-type endopeptidase inhibitor activity IEA --
GO:0005515 protein binding IEA,IPI 19269366
GO:0030020 extracellular matrix structural constituent conferring tensile strength RCA 25037231
GO:0030414 peptidase inhibitor activity IEA --
genes like me logo Genes that share ontologies with COL7A1: view
genes like me logo Genes that share phenotypes with COL7A1: view

Human Phenotype Ontology for COL7A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for COL7A1 Gene

MGI Knock Outs for COL7A1:

miRNA for COL7A1 Gene

miRTarBase miRNAs that target COL7A1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COL7A1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for COL7A1 Gene

Localization for COL7A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COL7A1 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 COL7A1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
plasma membrane 2
nucleus 2
golgi apparatus 2
cytoskeleton 1
mitochondrion 1
cytosol 1
lysosome 1
peroxisome 0

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for COL7A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005576 extracellular region TAS --
GO:0005581 collagen trimer IEA --
GO:0005590 collagen type VII trimer TAS 9375848
GO:0005604 basement membrane TAS,IEA --
genes like me logo Genes that share ontologies with COL7A1: view

Pathways & Interactions for COL7A1 Gene

PathCards logo

SuperPathways for COL7A1 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 Transport to the Golgi and subsequent modification
5 Phospholipase-C Pathway
.56
.56
genes like me logo Genes that share pathways with COL7A1: view

Pathways by source for COL7A1 Gene

15 Qiagen pathways for COL7A1 Gene
  • Blood Coagulation Cascade
  • ERK Signaling
  • FAK1 Signaling
  • GnRH Signaling
  • ILK Signaling

SIGNOR curated interactions for COL7A1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for COL7A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0007155 cell adhesion IEA --
GO:0008544 epidermis development TAS 8170945
GO:0010466 negative regulation of peptidase activity IEA --
GO:0010951 negative regulation of endopeptidase activity IEA --
genes like me logo Genes that share ontologies with COL7A1: view

Drugs & Compounds for COL7A1 Gene

(12) Drugs for COL7A1 Gene - From: ClinicalTrials and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Edetic Acid Approved, Vet_approved Pharma 171
Heparin Approved, Investigational Pharma 1160
Pentetic acid Approved Pharma 171
Antibodies Pharma 8474
Autoantibodies Pharma 203
genes like me logo Genes that share compounds with COL7A1: view

Transcripts for COL7A1 Gene

mRNA/cDNA for COL7A1 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
11 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 COL7A1

Alternative Splicing Database (ASD) splice patterns (SP) for COL7A1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

ExUns: 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46 ^ 47 ^ 48 ^ 49 ^ 50a · 50b ^ 51 ^
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

ExUns: 52 ^ 53 ^ 54 ^ 55a · 55b ^ 56a · 56b ^ 57a · 57b ^ 58 ^ 59 ^ 60 ^ 61a · 61b ^ 62a · 62b ^ 63a · 63b · 63c · 63d
SP1: - - -
SP2:
SP3:
SP4: - - - - - - -
SP5: - - -
SP6:
SP7:
SP8: - -
SP9:

Relevant External Links for COL7A1 Gene

GeneLoc Exon Structure for
COL7A1

Expression for COL7A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for COL7A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for COL7A1 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x7.7), Skin - Sun Exposed (Lower leg) (x5.5), Vagina (x4.2), and Prostate (x4.1).

Protein differential expression in normal tissues from HIPED for COL7A1 Gene

This gene is overexpressed in Esophagus (16.3), Thyroid (11.1), Islet of Langerhans (8.3), Prostate (7.3), and Cervix (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for COL7A1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for COL7A1

SOURCE GeneReport for Unigene cluster for COL7A1 Gene:

Hs.476218

Evidence on tissue expression from TISSUES for COL7A1 Gene

  • Skin(4.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for COL7A1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • face
  • head
  • inner ear
  • jaw
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • outer ear
  • pharynx
  • skull
  • tongue
  • tooth
Thorax:
  • chest wall
  • clavicle
  • esophagus
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
Abdomen:
  • intestine
  • large intestine
  • stomach
Pelvis:
  • ovary
  • pelvis
  • penis
  • prostate
  • rectum
  • testicle
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • red blood cell
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with COL7A1: view

Primer products for research

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for COL7A1 Gene

Orthologs for COL7A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for COL7A1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia COL7A1 29 30
  • 99.34 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia COL7A1 29 30
  • 87.56 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia COL7A1 29 30
  • 87.06 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Col7a1 29 16 30
  • 84.36 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Col7a1 29
  • 83.8 (n)
Oppossum
(Monodelphis domestica)
Mammalia COL7A1 30
  • 71 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia COL7A1 30
  • 60 (a)
OneToOne
Chicken
(Gallus gallus)
Aves COL7A1 29 30
  • 60.7 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia COL7A1 30
  • 57 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia col7a1 29
  • 51.81 (n)
Zebrafish
(Danio rerio)
Actinopterygii col7a1 29 30
  • 49.28 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta vkg 30
  • 28 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea let-2 30
  • 35 (a)
ManyToMany
emb-9 30
  • 35 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.10972 30
  • 35 (a)
ManyToMany
CSA.6298 30
  • 34 (a)
ManyToMany
Species where no ortholog for COL7A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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 COL7A1 Gene

ENSEMBL:
Gene Tree for COL7A1 (if available)
TreeFam:
Gene Tree for COL7A1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for COL7A1: view image
Alliance of Genome Resources:
Additional Orthologs for COL7A1

Paralogs for COL7A1 Gene

(18) SIMAP similar genes for COL7A1 Gene using alignment to 4 proteins:

  • CO7A1_HUMAN
  • A9Z119_HUMAN
  • B0LXL0_HUMAN
  • C9JBL3_HUMAN
genes like me logo Genes that share paralogs with COL7A1: view

Variants for COL7A1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for COL7A1 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
1000154 Uncertain Significance: not provided 48,588,326(-) G/A
NM_000094.4(COL7A1):c.2666C>T (p.Pro889Leu)
MISSENSE
1003122 Uncertain Significance: not provided 48,588,684(-) C/T
NM_000094.4(COL7A1):c.2545G>A (p.Gly849Arg)
MISSENSE
1007180 Uncertain Significance: not provided 48,581,570(-) C/T
NM_000094.4(COL7A1):c.4782+3G>A
INTRON
1008039 Uncertain Significance: not provided 48,582,656(-) G/A
NM_000094.4(COL7A1):c.4519-3C>T
INTRON
1008632 Uncertain Significance: not provided 48,570,324(-) C/T
NM_000094.4(COL7A1):c.7391G>A (p.Gly2464Glu)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for COL7A1 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 COL7A1 Gene

Variant ID Type Subtype PubMed ID
nsv1004383 CNV loss 25217958
nsv3811 CNV deletion 18451855
nsv476143 CNV novel sequence insertion 20440878
nsv523981 CNV loss 19592680
nsv590246 CNV loss 21841781
nsv818138 CNV gain 17921354
nsv834685 CNV loss 17160897
nsv954484 CNV deletion 24416366

Variation tolerance for COL7A1 Gene

Residual Variation Intolerance Score: 80.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.82; 73.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COL7A1 Gene

Human Gene Mutation Database (HGMD)
COL7A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COL7A1
Leiden Open Variation Database (LOVD)
COL7A1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL7A1 Gene

Disorders for COL7A1 Gene

MalaCards: The human disease database

(41) MalaCards diseases for COL7A1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CO7A1_HUMAN
  • Note=Epidermolysis bullosa acquisita (EBA) is an autoimmune acquired blistering skin disease resulting from autoantibodies to type VII collagen.
  • Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) [MIM:131750]: A group of autosomal dominant blistering skin diseases characterized by tissue separation which occurs below the dermal-epidermal basement membrane at the level of the anchoring fibrils. Various clinical types with different severity are recognized, ranging from severe mutilating forms to mild forms with limited and localized scarring, and less frequent extracutaneous manifestations. {ECO:0000269 PubMed:10084325, ECO:0000269 PubMed:10232406, ECO:0000269 PubMed:10232407, ECO:0000269 PubMed:10232408, ECO:0000269 PubMed:10233777, ECO:0000269 PubMed:10836608, ECO:0000269 PubMed:11142768, ECO:0000269 PubMed:20598510, ECO:0000269 PubMed:7861014, ECO:0000269 PubMed:8170945, ECO:0000269 PubMed:9215684, ECO:0000269 PubMed:9668111, ECO:0000269 PubMed:9740253, ECO:0000269 PubMed:9856843}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) [MIM:226600]: A group of autosomal recessive blistering skin diseases characterized by tissue separation which occurs below the dermal-epidermal basement membrane at the level of the anchoring fibrils. Various clinical types with different severity are recognized, ranging from severe mutilating forms, such as epidermolysis bullosa dystrophica Hallopeau-Siemens type, to mild forms with limited localized scarring and less frequent extracutaneous manifestations. Mild forms include epidermolysis bullosa mitis and epidermolysis bullosa localisata. {ECO:0000269 PubMed:10084325, ECO:0000269 PubMed:10620140, ECO:0000269 PubMed:11167698, ECO:0000269 PubMed:12787275, ECO:0000269 PubMed:20598510, ECO:0000269 PubMed:8513326, ECO:0000269 PubMed:8592061, ECO:0000269 PubMed:8618018, ECO:0000269 PubMed:8757758, ECO:0000269 PubMed:9215684, ECO:0000269 PubMed:9326325, ECO:0000269 PubMed:9444387, ECO:0000269 PubMed:9740253, ECO:0000269 PubMed:9804332}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Transient bullous dermolysis of the newborn (TBDN) [MIM:131705]: TBDN is a neonatal form of dystrophic epidermolysis bullosa characterized by sub-epidermal blisters, reduced or abnormal anchoring fibrils at the dermo-epidermal junction, and electron-dense inclusions in keratinocytes. TBDN heals spontaneously or strongly improves within the first months and years of life. {ECO:0000269 PubMed:9856844}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Epidermolysis bullosa dystrophica, pretibial type (PR-DEB) [MIM:131850]: A form of dystrophic epidermolysis bullosa characterized by pretibial blisters that develop into prurigo-like hyperkeratotic lesions. It predominantly affects the pretibial areas, sparing the knees and other parts of the skin. Other clinical features include nail dystrophy, albopapuloid skin lesions, and hypertrophic scars without pretibial predominance. The phenotype shows considerable interindividual variability. Inheritance is autosomal dominant. {ECO:0000269 PubMed:8541842}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Epidermolysis bullosa dystrophica, Bart type (B-DEB) [MIM:132000]: An autosomal dominant form of dystrophic epidermolysis bullosa characterized by congenital localized absence of skin, skin fragility and deformity of nails. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Epidermolysis bullosa pruriginosa (EBP) [MIM:604129]: A distinct clinical subtype of epidermolysis bullosa dystrophica. It is characterized by skin fragility, blistering, scar formation, intense pruritus and excoriated prurigo nodules. Onset is in early childhood, but in some cases is delayed until the second or third decade of life. Inheritance can be autosomal dominant or recessive. {ECO:0000269 PubMed:10383749, ECO:0000269 PubMed:11142768}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Nail disorder, non-syndromic congenital, 8 (NDNC8) [MIM:607523]: A nail disorder characterized by isolated toenail dystrophy. The nail changes are most severe in the great toes and consist of the nail plate being buried in the nail bed with a deformed and narrow free edge. {ECO:0000269 PubMed:11843659}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Epidermolysis bullosa dystrophica, with subcorneal cleavage (EBDSC) [MIM:131750]: A bullous skin disorder with variable sized clefts just beneath the level of the stratum corneum. Clinical features include blisters, milia, atrophic scarring, nail dystrophy, and oral and conjunctival involvement, as seen in dystrophic epidermolysis bullosa. {ECO:0000269 PubMed:11874498, ECO:0000269 PubMed:2653224}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for COL7A1

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 COL7A1: view

No data available for Genatlas for COL7A1 Gene

Publications for COL7A1 Gene

  1. High frequency of the 425A-->G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa. (PMID: 15888141) Csikós M … Bruckner-Tuderman L (The British journal of dermatology 2005) 3 22 40 72
  2. Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis. (PMID: 10504458) Whittock NV … McGrath JA (The Journal of investigative dermatology 1999) 3 4 22 72
  3. Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations. (PMID: 9856844) Hammami-Hauasli N … Bruckner-Tuderman L (The Journal of investigative dermatology 1998) 3 4 22 72
  4. Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen. (PMID: 8541842) Christiano AM … Uitto J (Human molecular genetics 1995) 3 4 22 72
  5. Dominant dystrophic epidermolysis bullosa: identification of a Gly-->Ser substitution in the triple-helical domain of type VII collagen. (PMID: 8170945) Christiano AM … Uitto J (Proceedings of the National Academy of Sciences of the United States of America 1994) 3 4 22 72

Products for COL7A1 Gene

Sources for COL7A1 Gene