This gene encodes the alpha chain of type XVII collagen. Unlike most collagens, collagen XVII is a transmembrane protein. Collagen XVII is a structural component of hemidesmosomes, multiprotein complexes at the dermal-epidermal basement membrane zone that mediate adhesion of keratinocytes to the underlying membrane. Mutations in this gene are associated with both generalized at... See more...

Aliases for COL17A1 Gene

Aliases for COL17A1 Gene

  • Collagen Type XVII Alpha 1 Chain 2 3 5
  • BP180 2 3 4
  • 180 KDa Bullous Pemphigoid Antigen 2 3 4
  • Collagen, Type XVII, Alpha 1 2 3
  • Collagen Alpha-1(XVII) Chain 3 4
  • BPAG2 3 4
  • BA16H23.2 (Collagen, Type XVII, Alpha 1 (BP180)) 3
  • Bullous Pemphigoid Antigen 2 (180kD) 3
  • Collagen XVII, Alpha-1 Polypeptide 3
  • Bullous Pemphigoid Antigen 2 4
  • Alpha 1 Type XVII Collagen 3
  • Type XVII Collagen Alpha-1 3
  • BA16H23.2 3
  • COL17A1 5
  • BPA-2 3
  • LAD-1 3
  • ERED 3

External Ids for COL17A1 Gene

Previous HGNC Symbols for COL17A1 Gene

  • BPAG2

Previous GeneCards Identifiers for COL17A1 Gene

  • GC10M104684
  • GC10M105024
  • GC10M105922
  • GC10M105455
  • GC10M105781
  • GC10M099422

Summaries for COL17A1 Gene

Entrez Gene Summary for COL17A1 Gene

  • This gene encodes the alpha chain of type XVII collagen. Unlike most collagens, collagen XVII is a transmembrane protein. Collagen XVII is a structural component of hemidesmosomes, multiprotein complexes at the dermal-epidermal basement membrane zone that mediate adhesion of keratinocytes to the underlying membrane. Mutations in this gene are associated with both generalized atrophic benign and junctional epidermolysis bullosa. Two homotrimeric forms of type XVII collagen exist. The full length form is the transmembrane protein. A soluble form, referred to as either ectodomain or LAD-1, is generated by proteolytic processing of the full length form. [provided by RefSeq, Jul 2008]

GeneCards Summary for COL17A1 Gene

COL17A1 (Collagen Type XVII Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL17A1 include Epidermolysis Bullosa, Junctional, Non-Herlitz Type and Epithelial Recurrent Erosion Dystrophy. Among its related pathways are Collagen chain trimerization and Integrin Pathway. An important paralog of this gene is COL5A1.

UniProtKB/Swiss-Prot Summary for COL17A1 Gene

  • May play a role in the integrity of hemidesmosome and the attachment of basal keratinocytes to the underlying basement membrane.
  • The 120 kDa linear IgA disease antigen is an anchoring filament component involved in dermal-epidermal cohesion. Is the target of linear IgA bullous dermatosis autoantibodies.

Gene Wiki entry for COL17A1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for COL17A1 Gene

Genomics for COL17A1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for COL17A1 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
GH10J104080 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 250.7 +2.2 2192 6.7 ZNF10 ZIC2 FEZF1 CTCF ZNF610 RAD21 SMC3 ZNF843 BCL11B PRDM6 COL17A1 CFAP43 CFAP58 lnc-CFAP43-2 HSALNG0080405 SLK
GH10J103965 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 9.8 +117.3 117279 5.6 ZNF600 IKZF1 ZNF580 ZNF592 ATF2 POLR2A CEBPA ZNF10 NFIC ZBTB10 HSALNG0080400 LOC102724351 SLK lnc-STN1-2 PDCD11 ENSG00000260461 TAF5 STN1 SFR1 PCGF6
GH10J104032 Enhancer 0.8 Ensembl ENCODE 20.5 +51.4 51379 7 ZIC2 ZNF341 MAFF ZNF316 TARDBP MAFK SPI1 POLR2A MAFG STAT5A COL17A1 SFR1 SLK GSTO1 MN309120 MIR936
GH10J104109 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 11.6 -24.3 -24301 1.6 CEBPB HES1 EP300 JUND IKZF1 TCF12 MEIS2 HDAC1 ARID1B PKNOX1 SFR1 COL17A1 MIR936 STN1 CFAP43 GSTO1 CFAP58 SLK RF00017-717 HSALNG0080405
GH10J103892 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 10.5 +191.2 191209 4.8 ATF2 BRCA1 ZIC2 ZBTB10 CEBPB FEZF1 ZNF639 ZEB1 MAX EP300 STN1 SLK SH3PXD2A MIR936 COL17A1 HSALNG0080398 piR-60314
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COL17A1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for COL17A1

Top Transcription factor binding sites by QIAGEN in the COL17A1 gene promoter:
  • AML1a
  • E2F
  • E2F-1
  • Gfi-1
  • HEN1
  • LyF-1
  • Nkx2-5
  • Oct-B1
  • oct-B2
  • Pbx1a

Genomic Locations for COL17A1 Gene

Latest Assembly
chr10:104,031,286-104,085,880
(GRCh38/hg38)
Size:
54,595 bases
Orientation:
Minus strand

Previous Assembly
chr10:105,791,044-105,845,638
(GRCh37/hg19 by Entrez Gene)
Size:
54,595 bases
Orientation:
Minus strand

chr10:105,791,044-105,845,760
(GRCh37/hg19 by Ensembl)
Size:
54,717 bases
Orientation:
Minus strand

Genomic View for COL17A1 Gene

Genes around COL17A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COL17A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COL17A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COL17A1 Gene

Proteins for COL17A1 Gene

  • Protein details for COL17A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UMD9-COHA1_HUMAN
    Recommended name:
    Collagen alpha-1(XVII) chain
    Protein Accession:
    Q9UMD9
    Secondary Accessions:
    • Q02802
    • Q5JV36
    • Q99018
    • Q9NQK9
    • Q9UC14

    Protein attributes for COL17A1 Gene

    Size:
    1497 amino acids
    Molecular mass:
    150419 Da
    Quaternary structure:
    • Homotrimers of alpha 1(XVII)chains. Interacts (via cytoplasmic region) with ITGB4 (via cytoplasmic region). Interacts (via cytoplasmic region) with DST isoform 3 (via N-terminus). Interacts (via N-terminus) with PLEC. Interacts (via cytoplasmic region) with DSP.
    SequenceCaution:
    • Sequence=AAA35605.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAH04478.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};
    Miscellaneous:
    • Both the 120 kDa linear IgA disease antigen and the 97 kDa linear IgA disease antigen of COL17A1, represent major antigenic targets of autoantibodies in patients with linear IgA disease (LAD). LAD is a subepidermal blistering disorder characterized by tissue-bound and circulating IgA autoantibodies to the dermal-epidermal junction. These IgA autoantibodies preferentially react with 97 and the 120 kDa forms, but not with the full-length COL17A1, suggesting that the cleavage of the ectodomain generates novel autoantigenic epitopes.

    Alternative splice isoforms for COL17A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COL17A1 Gene

Post-translational modifications for COL17A1 Gene

  • The intracellular/endo domain is disulfide-linked.
  • Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
  • The ectodomain is shedded from the surface of keratinocytes resulting in a 120-kDa soluble form, also named as 120 kDa linear IgA disease antigen. The shedding is mediated by membrane-bound metalloproteases. This cleavage is inhibited by phosphorylation at Ser-544.
  • Glycosylation at Thr1284 and Asn1421
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for COL17A1 Gene

Domains & Families for COL17A1 Gene

Gene Families for COL17A1 Gene

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

Protein Domains for COL17A1 Gene

InterPro:
Blocks:
  • Collagen triple helix repeat
  • Collagen helix repeat

Suggested Antigen Peptide Sequences for COL17A1 Gene

GenScript: Design optimal peptide antigens:
  • Bullous pemphigoid antigen 2 (COHA1_HUMAN)
  • Collagen, type XVII, alpha 1, isoform CRA_b (D3DRA2_HUMAN)
  • Collagen, type XVII, alpha 1 (Q5JV37_HUMAN)
genes like me logo Genes that share domains with COL17A1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for COL17A1 Gene

Function for COL17A1 Gene

Molecular function for COL17A1 Gene

UniProtKB/Swiss-Prot Function:
May play a role in the integrity of hemidesmosome and the attachment of basal keratinocytes to the underlying basement membrane.
UniProtKB/Swiss-Prot Function:
The 120 kDa linear IgA disease antigen is an anchoring filament component involved in dermal-epidermal cohesion. Is the target of linear IgA bullous dermatosis autoantibodies.
GENATLAS Biochemistry:
collagen type XVII,alpha 1,plasma membrane of keratinocytes

Phenotypes From GWAS Catalog for COL17A1 Gene

Gene Ontology (GO) - Molecular Function for COL17A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent IBA 21873635
GO:0005515 protein binding IPI 12482924
GO:0030020 extracellular matrix structural constituent conferring tensile strength RCA 25037231
genes like me logo Genes that share ontologies with COL17A1: view
genes like me logo Genes that share phenotypes with COL17A1: view

Human Phenotype Ontology for COL17A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

miRNA for COL17A1 Gene

miRTarBase miRNAs that target COL17A1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COL17A1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for COL17A1 Gene

Localization for COL17A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COL17A1 Gene

Cell junction, hemidesmosome. Membrane. Single-pass type II membrane protein. Note=Localized along the plasma membrane of the hemidesmosome.
[120 kDa linear IgA disease antigen]: Secreted, extracellular space, extracellular matrix, basement membrane. Note=Exclusively localized to anchoring filaments. Localized to the epidermal side of split skin.
[97 kDa linear IgA disease antigen]: Secreted, extracellular space, extracellular matrix, basement membrane. Note=Localized in the lamina lucida beneath the hemidesmosomes.

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 COL17A1 gene
Compartment Confidence
extracellular 5
plasma membrane 4
endoplasmic reticulum 4
nucleus 3
cytoskeleton 2
cytosol 2
mitochondrion 1
lysosome 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for COL17A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005581 collagen trimer IEA --
GO:0005604 basement membrane IEA --
GO:0005615 extracellular space IBA 21873635
GO:0005788 endoplasmic reticulum lumen TAS --
genes like me logo Genes that share ontologies with COL17A1: view

Pathways & Interactions for COL17A1 Gene

PathCards logo

SuperPathways for COL17A1 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 Cell junction organization
5 Degradation of the extracellular matrix
genes like me logo Genes that share pathways with COL17A1: view

Pathways by source for COL17A1 Gene

1 KEGG pathway for COL17A1 Gene
15 Qiagen pathways for COL17A1 Gene
  • Blood Coagulation Cascade
  • ERK Signaling
  • FAK1 Signaling
  • GnRH Signaling
  • ILK Signaling

Interacting Proteins for COL17A1 Gene

Gene Ontology (GO) - Biological Process for COL17A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007160 cell-matrix adhesion TAS 9012408
GO:0008544 epidermis development TAS 9012408
GO:0030198 extracellular matrix organization IBA 21873635
GO:0031581 hemidesmosome assembly IDA,TAS --
GO:0050776 regulation of immune response TAS --
genes like me logo Genes that share ontologies with COL17A1: view

No data available for SIGNOR curated interactions for COL17A1 Gene

Drugs & Compounds for COL17A1 Gene

(8) Drugs for COL17A1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for COL17A1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with COL17A1: view

Transcripts for COL17A1 Gene

mRNA/cDNA for COL17A1 Gene

2 REFSEQ mRNAs :
11 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 COL17A1

Alternative Splicing Database (ASD) splice patterns (SP) for COL17A1 Gene

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

ExUns: 26 ^ 27a · 27b ^ 28 ^ 29 ^ 30a · 30b ^ 31a · 31b · 31c ^ 32 ^ 33 ^ 34a · 34b ^ 35
SP1:
SP2:
SP3:
SP4:
SP5: -
SP6: -
SP7:
SP8: -

Relevant External Links for COL17A1 Gene

GeneLoc Exon Structure for
COL17A1

Expression for COL17A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for COL17A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for COL17A1 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x17.9), Skin - Sun Exposed (Lower leg) (x15.3), and Esophagus - Mucosa (x4.0).

Protein differential expression in normal tissues from HIPED for COL17A1 Gene

This gene is overexpressed in Retina (12.7), Skin (12.0), Pancreatic juice (11.7), Placenta (8.9), and Heart (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for COL17A1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for COL17A1

SOURCE GeneReport for Unigene cluster for COL17A1 Gene:

Hs.117938

mRNA Expression by UniProt/SwissProt for COL17A1 Gene:

Q9UMD9-COHA1_HUMAN
Tissue specificity: Detected in skin (PubMed:8618013). In the cornea, it is detected in the epithelial basement membrane, the epithelial cells, and at a lower level in stromal cells (at protein level) (PubMed:25676728). Stratified squamous epithelia. Found in hemidesmosomes. Expressed in cornea, oral mucosa, esophagus, intestine, kidney collecting ducts, ureter, bladder, urethra and thymus but is absent in lung, blood vessels, skeletal muscle and nerves.

Evidence on tissue expression from TISSUES for COL17A1 Gene

  • Pancreas(4.3)
  • Skin(3.7)
  • Lung(2.9)
  • Eye(2.3)
  • Intestine(2.1)
  • Blood(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for COL17A1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeleton
Regions:
Head and neck:
  • brain
  • epiglottis
  • eye
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
  • tooth
  • vocal cord
Thorax:
  • trachea
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with COL17A1: view

Primer products for research

No data available for Protein tissue co-expression partners for COL17A1 Gene

Orthologs for COL17A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for COL17A1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia COL17A1 29 30
  • 99 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia COL17A1 29 30
  • 85.64 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia COL17A1 29 30
  • 84.44 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 82 (a)
OneToMany
-- 30
  • 78 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Col17a1 30
  • 81 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia COL17A1 30
  • 72 (a)
OneToOne
Chicken
(Gallus gallus)
Aves COL17A1 30
  • 63 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia COL17A1 30
  • 63 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii col17a1b 30
  • 43 (a)
OneToMany
col17a1a 30
  • 43 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea col-89 30
  • 39 (a)
ManyToMany
col-118 30
  • 37 (a)
ManyToMany
col-150 30
  • 36 (a)
ManyToMany
col-127 30
  • 36 (a)
ManyToMany
col-126 30
  • 36 (a)
ManyToMany
col-187 30
  • 36 (a)
ManyToMany
col-10 30
  • 36 (a)
ManyToMany
col-148 30
  • 36 (a)
ManyToMany
col-145 30
  • 36 (a)
ManyToMany
col-61 30
  • 35 (a)
ManyToMany
col-144 30
  • 35 (a)
ManyToMany
col-176 30
  • 35 (a)
ManyToMany
col-149 30
  • 34 (a)
ManyToMany
col-177 30
  • 27 (a)
ManyToMany
Species where no ortholog for COL17A1 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for COL17A1 Gene

ENSEMBL:
Gene Tree for COL17A1 (if available)
TreeFam:
Gene Tree for COL17A1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for COL17A1: view image
Alliance of Genome Resources:
Additional Orthologs for COL17A1

Paralogs for COL17A1 Gene

(8) SIMAP similar genes for COL17A1 Gene using alignment to 4 proteins:

  • COHA1_HUMAN
  • A2A2Y8_HUMAN
  • D3DRA2_HUMAN
  • H0Y420_HUMAN
genes like me logo Genes that share paralogs with COL17A1: view

Variants for COL17A1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for COL17A1 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
1029877 Pathogenic: Junctional epidermolysis bullosa, non-Herlitz type 104,070,528(-) G/A
NM_000494.4(COL17A1):c.505C>T (p.Arg169Ter)
NONSENSE
1032390 Pathogenic: Junctional epidermolysis bullosa, non-Herlitz type 104,055,781(-) C/T
NM_000494.4(COL17A1):c.1687+1G>A
SPLICE_DONOR
1032391 Pathogenic: Junctional epidermolysis bullosa, non-Herlitz type 104,048,105(-) CT/C
NM_000494.4(COL17A1):c.2228-2del
SPLICE_ACCEPTOR_VARIANT,NON_CODING_TRANSCRIPT
1032392 Pathogenic: Junctional epidermolysis bullosa, non-Herlitz type 104,048,100(-) AGG/A
NM_000494.4(COL17A1):c.2230_2231del (p.Pro744fs)
FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT
1032393 Pathogenic: Junctional epidermolysis bullosa, non-Herlitz type 104,048,096(-) CAG/C
NM_000494.4(COL17A1):c.2234_2235del (p.Ala745fs)
FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for COL17A1 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 COL17A1 Gene

Variant ID Type Subtype PubMed ID
esv1639508 CNV insertion 17803354
esv1658839 CNV insertion 17803354
esv1752212 CNV insertion 17803354
esv2453005 CNV deletion 19546169
esv2556771 CNV insertion 19546169
esv3409615 CNV insertion 20981092
esv3432490 CNV duplication 20981092
nsv1078737 CNV insertion 25765185
nsv1149623 CNV insertion 26484159
nsv513017 CNV insertion 21212237
nsv528782 CNV loss 19592680

Variation tolerance for COL17A1 Gene

Residual Variation Intolerance Score: 86.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.04; 87.52% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COL17A1 Gene

Human Gene Mutation Database (HGMD)
COL17A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COL17A1
Leiden Open Variation Database (LOVD)
COL17A1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL17A1 Gene

Disorders for COL17A1 Gene

MalaCards: The human disease database

(53) MalaCards diseases for COL17A1 Gene - From: LNC, OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
epidermolysis bullosa, junctional, non-herlitz type
  • epidermolysis bullosa junctionalis, non-herlitz type
epithelial recurrent erosion dystrophy
  • ered
skin disease
  • genodermatosis
late-onset junctional epidermolysis bullosa
  • eb progressive
tooth disease
  • teeth disease
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

COHA1_HUMAN
  • Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]: A non-lethal, adult form of junctional epidermolysis bullosa characterized by life-long blistering of the skin, associated with hair and tooth abnormalities. {ECO:0000269 PubMed:10652291, ECO:0000269 PubMed:10951237, ECO:0000269 PubMed:11912005, ECO:0000269 PubMed:8669466, ECO:0000269 PubMed:9199555}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Epithelial recurrent erosion dystrophy (ERED) [MIM:122400]: A corneal dystrophy characterized by recurrent episodes of epithelial erosions from childhood, with occasional impairment of vision. Most patients have attacks of redness, photophobia, epiphora, and ocular pain. Exposure to sunlight or draught, dust and smoke and lack of sleep can precipitate attacks. {ECO:0000269 PubMed:25676728}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for COL17A1

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 COL17A1: view

No data available for Genatlas for COL17A1 Gene

Publications for COL17A1 Gene

  1. Mutations in collagen, type XVII, alpha 1 (COL17A1) cause epithelial recurrent erosion dystrophy (ERED). (PMID: 25676728) Jonsson F … Golovleva I (Human mutation 2015) 3 4 72
  2. Genetic variation in COL17A1 and the development of bullous pemphigoid. (PMID: 14987253) Winsey S … Wojnarowska F (Experimental dermatology 2004) 3 22 40
  3. Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese. (PMID: 15081423) Suzuki A … Kamoi K (Biochemical and biophysical research communications 2004) 3 22 40
  4. A novel homozygous point mutation in the COL17A1 gene in a Chinese family with generalized atrophic benign epidermolysis bullosa. (PMID: 11912005) Wu Y … Zhu X (Journal of dermatological science 2002) 3 4 22
  5. Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosa. (PMID: 9199555) Schumann H … Bruckner-Tuderman L (American journal of human genetics 1997) 3 4 72

Products for COL17A1 Gene

Sources for COL17A1 Gene