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 Alpha-1(VII) Chain 3 4
  • Collagen, Type VII, Alpha 1 2 3
  • Long-Chain Collagen 3 4
  • Epidermolysis Bullosa, Dystrophic, Dominant And Recessive 2
  • NDNC8 3
  • EBDCT 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 Metabolism of proteins and ERK Signaling. 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 COL1A2.

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

Additional gene information 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 for COL7A1 Gene

Promoters and enhancers for COL7A1 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
GH03J048593 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 -2.0 -2034 7.5 TCF12 POLR2G JUND FOS ZIC2 REST RFX1 ZNF740 EP300 CTBP1 COL7A1 WDR6 TMEM89 ZNF589 LAMB2 SNORA94-001 UQCRC1
GH03J048551 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.1 +36.0 36032 15.4 CTCF SIN3A NRF1 TCF12 POLR2G SP1 JUND FOS ZIC2 REST PFKFB4 UCN2 TMA7 WDR6 COL7A1 ATRIP ENSG00000244380 CCDC51 FBXW12 NME6
GH03J048632 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas 11.6 -39.7 -39727 4.1 HNRNPK CTCF SIN3A NRF1 POLR2G SP1 PHF8 JUND ZFX POLR2A MIR6824 SLC26A6 WDR6 COL7A1 PFKFB4 UCN2 CELSR3
GH03J048464 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.7 +125.2 125213 11.4 RXRA EP300 FOXK2 ZBTB40 ZNF217 CTCF SIN3A MYC POLR2G SP1 SHISA5 TREX1 TMA7 ATRIP ENSG00000244380 CCDC51 PLXNB1 ENSG00000223343 COL7A1 UCN2
GH03J048693 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 10.4 -99.5 -99543 2.6 FOS KLF7 ATF2 POLR2A OSR2 WT1 SP2 ZBTB17 ZNF76 NR3C1 IP6K2 WDR6 COL7A1 PFKFB4 UCN2 PRKAR2A PRKAR2A-AS1 QRICH1 QARS1 NCKIPSD
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for COL7A1 Gene
chr3:48,564,073-48,595,302
(GRCh38/hg38)
Size:
31,230 bases
Orientation:
Minus strand
chr3:48,601,506-48,632,700
(GRCh37/hg19)
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

Other Protein References for COL7A1 Gene

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

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

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:

Animal Model Products

miRNA for COL7A1 Gene

miRTarBase miRNAs that target COL7A1

Clone Products

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

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for COL7A1 Gene

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:0003429 growth plate cartilage chondrocyte morphogenesis IBA 21873635
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 --
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 157
Heparin Approved, Investigational Pharma Antagonist 1028
Pentetic acid Approved Pharma 157
Antibodies Pharma 8750
Autoantibodies Pharma 191
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 :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

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

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 31 30
  • 99.34 (n)
OneToOne
dog
(Canis familiaris)
Mammalia COL7A1 31 30
  • 87.56 (n)
OneToOne
cow
(Bos Taurus)
Mammalia COL7A1 31 30
  • 87.06 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Col7a1 17 31 30
  • 84.36 (n)
rat
(Rattus norvegicus)
Mammalia Col7a1 30
  • 83.8 (n)
oppossum
(Monodelphis domestica)
Mammalia COL7A1 31
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COL7A1 31
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves COL7A1 31 30
  • 60.7 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COL7A1 31
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia col7a1 30
  • 51.81 (n)
zebrafish
(Danio rerio)
Actinopterygii col7a1 31 30
  • 49.28 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta vkg 31
  • 28 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea let-2 31
  • 35 (a)
ManyToMany
emb-9 31
  • 35 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10972 31
  • 35 (a)
ManyToMany
CSA.6298 31
  • 34 (a)
ManyToMany
Species where no ortholog for COL7A1 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)
  • 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

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
17425 Pathogenic: Recessive dystrophic epidermolysis bullosa 48,588,757(-) T/TC FRAMESHIFT_VARIANT
17426 Pathogenic: Recessive dystrophic epidermolysis bullosa 48,585,589(-) GC/G FRAMESHIFT_VARIANT
17428 Pathogenic: Recessive dystrophic epidermolysis bullosa 48,576,249(-) CG/C FRAMESHIFT_VARIANT
17435 Pathogenic: Recessive dystrophic epidermolysis bullosa 48,584,484(-) C/A SPLICE_DONOR_VARIANT
17441 Pathogenic: Epidermolysis bullosa pruriginosa, autosomal recessive 48,568,505(-) AC/A FRAMESHIFT_VARIANT

Additional dbSNP identifiers (rs#s) for COL7A1 Gene

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

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

Disorders for COL7A1 Gene

MalaCards: The human disease database

(32) MalaCards diseases for COL7A1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, Orphanet, DISEASES, Novoseek, and GeneCards

- 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 mutations 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 mutations 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 mutations 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 mutations 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 mutations 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 mutations 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 mutations 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 mutations affecting the gene represented in this entry.

Additional Disease Information for COL7A1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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Publications for COL7A1 Gene

  1. Forty-two novel COL7A1 mutations and the role of a frequent single nucleotide polymorphism in the MMP1 promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort. (PMID: 19681861) Kern JS … Has C (The British journal of dermatology 2009) 3 23 41 54
  2. 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 23 41 54
  3. Glycine substitution mutations by different amino acids in the same codon of COL7A1 lead to heterogeneous clinical phenotypes of dominant dystrophic epidermolysis bullosa. (PMID: 11142768) Murata T … Nishikawa T (Archives of dermatological research 2000) 3 4 23 54
  4. A de novo glycine substitution mutation in the collagenous domain of COL7A1 in dominant dystrophic epidermolysis bullosa. (PMID: 10836608) Lee JY … Uitto J (Archives of dermatological research 2000) 3 4 23 54
  5. 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 23 54

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