Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1308
Gene name Gene Name - the full gene name approved by the HGNC.	Collagen type XVII alpha 1 chain
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	COL17A1
Synonyms (NCBI Gene) Gene synonyms aliases	BA16H23.2, BP180, BPA-2, BPAG2, ERED, JEB4, LAD-1
Disease Acronyms (UniProt) Disease acronyms from UniProt database	ERED, JEB4
Chromosome Chromosome number	10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	10q25.1
Summary Summary of gene provided in NCBI Entrez 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

Show/Hide all(32)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121912769	G>A	Pathogenic	Stop gained, coding sequence variant
rs121912770	G>A	Pathogenic	Stop gained, coding sequence variant
rs121912771	C>T	Pathogenic	Missense variant, coding sequence variant
rs121912772	A>C	Pathogenic	Stop gained, coding sequence variant
rs121912773	C>T	Pathogenic	Missense variant, coding sequence variant
rs121912774	G>A	Pathogenic	Stop gained, coding sequence variant
rs199527325	C>T	Likely-pathogenic	Splice donor variant
rs201940939	C>T	Likely-pathogenic	Intron variant
rs752317971	C>A,G	Pathogenic	Coding sequence variant, stop gained, missense variant
rs753898533	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs754289857	C>T	Pathogenic	Splice acceptor variant
rs760094345	G>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained
rs760714959	G>A	Pathogenic	Coding sequence variant, synonymous variant
rs765243124	CTCT>-	Pathogenic	Coding sequence variant, frameshift variant
rs767083273	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs775196743	G>A	Pathogenic	Coding sequence variant, stop gained
rs775244527	A>-	Likely-pathogenic	Splice donor variant
rs775251483	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs797045084	CCCTCTGAAAAC>-	Likely-pathogenic	Coding sequence variant, intron variant, splice acceptor variant
rs797045142	G>A	Pathogenic	Coding sequence variant, missense variant
rs886041555	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064793760	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1131691753	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1210666598	CAGGGGGTC>C,G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1240465846	G>A	Pathogenic	Stop gained, coding sequence variant
rs1478395810	T>C	Likely-pathogenic	Splice acceptor variant
rs1554847822	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1554849445	C>T	Pathogenic	Stop gained, coding sequence variant
rs1554850239	C>T	Pathogenic	Stop gained, coding sequence variant
rs1589562891	C>A	Pathogenic	Splice acceptor variant
rs1589567772	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1589572214	G>-	Pathogenic	Frameshift variant, coding sequence variant

Show/Hide all(11)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022276	hsa-miR-124-3p	Microarray	18668037
MIRT1967701	hsa-miR-3942-3p	CLIP-seq
MIRT2203520	hsa-miR-1197	CLIP-seq
MIRT2203521	hsa-miR-28-5p	CLIP-seq
MIRT2203522	hsa-miR-3139	CLIP-seq
MIRT2203523	hsa-miR-4652-3p	CLIP-seq
MIRT2203524	hsa-miR-708	CLIP-seq
MIRT2447429	hsa-miR-298	CLIP-seq
MIRT2447430	hsa-miR-4303	CLIP-seq
MIRT2447431	hsa-miR-4682	CLIP-seq
MIRT2447432	hsa-miR-4802-5p	CLIP-seq

Show/Hide all(22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005201	Function	Extracellular matrix structural constituent	IBA	21873635
GO:0005515	Function	Protein binding	IPI	12482924, 32296183
GO:0005576	Component	Extracellular region	TAS
GO:0005581	Component	Collagen trimer	IEA
GO:0005604	Component	Basement membrane	IEA
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	TAS	9012408
GO:0005911	Component	Cell-cell junction	TAS	9012408
GO:0007160	Process	Cell-matrix adhesion	TAS	9012408
GO:0008544	Process	Epidermis development	TAS	9012408
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	HDA	28344315
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	RCA	25037231
GO:0030056	Component	Hemidesmosome	IBA	21873635
GO:0030056	Component	Hemidesmosome	IDA	12482924
GO:0030198	Process	Extracellular matrix organization	IBA	21873635
GO:0031012	Component	Extracellular matrix	IBA	21873635
GO:0031581	Process	Hemidesmosome assembly	IDA	12482924
GO:0031581	Process	Hemidesmosome assembly	TAS
GO:0050776	Process	Regulation of immune response	TAS
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	25037231, 28344315

MIM	HGNC	e!Ensembl
113811	2194	ENSG00000065618

Protein

UniProt ID

Q9UMD9

Protein name

Collagen alpha-1(XVII) chain (180 kDa bullous pemphigoid antigen 2) (Bullous pemphigoid antigen 2) [Cleaved into: 120 kDa linear IgA disease antigen (120 kDa linear IgA dermatosis antigen) (Linear IgA disease antigen 1) (LAD-1); 97 kDa linear IgA disease

Protein function

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 co

PDB

8IZS

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01391	Collagen	561 → 624	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	749 → 809	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	1434 → 1488	Collagen triple helix repeat (20 copies)	Repeat

Tissue specificity

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. Foun

Sequence

MDVTKKNKRDGTEVTERIVTETVTTRLTSLPPKGGTSNGYAKTASLGGGSRLEKQSLTHG
SSGYINSTGSTRGHASTSSYRRAHSPASTLPNSPGSTFERKTHVTRHAYEGSSSGNSSPE
YPRKEFASSSTRGRSQTRESEIRVRLQSASPSTRWTELDDVKRLLKGSRSASVSPTRNSS
NTLPIPKKGTVETKIVTASSQSVSGTYDATILDANLPSHVWSSTLPAGSSMGTYHNNMTT
QSSSLLNTNAYSAGSVFGVPNNMASCSPTLHPGLSTSSSVFGMQNNLAPSLTTLSHGTTT
TSTAYGVKKNMPQSPAAVNTGVSTSAACTTSVQSDDLLHKDCKFLILEKDNTPAKKEMEL
LIMTKDSGKVFTASPASIAATSFSEDTLKKEKQAAYNADSGLKAEANGDLKTVSTKGKTT
TADIHSYGSSGGGGSGGGGGVGGAGGGPWGPAPAWCPCGSCCSWWKWLLGLLLTWLLLLG
LLFGLIALAEEVRKLKARVDELERIRRSILPYGDSMDRIEKDRLQGMAPAAGADLDKIGL
HSDSQEELWMFVRKKLMMEQENGNLRGSPGPKGDMGSPGPKGDRGFPGTPGIPGPLGHPG
PQGPKGQKGSVGDPGMEGPMGQRGREGPMGPRGEAGPPGSGEKGERGAAGEPGPHGPPGV
PGSVGPKGSSGSPGPQGPPGPVGLQGLRGEVGLPGVKGDKGPMGPPGPKGDQGEKGPRGL
TGEPGMRGLPGAVGEPGAKGAMGPAGPDGHQGPRGEQGLTGMPGIRGPPGPSGDPGKPGL
TGPQGPQGLPGTPGRPGIKGEPGAPGKIVTSEGSSMLTVPGPPGPPGAMGPPGPPGAPGP
AGPAGLPGHQEVLNLQGPPGPPGPRGPPGPSIPGPPGPRGPPGEGLPGPPGPPGSFLSNS
ETFLSGPPGPPGPPGPKGDQGPPGPRGHQGEQGLPGFSTSGSSSFGLNLQGPPGPPGPQG
PKGDKGDPGVPGALGIPSGPSEGGSSSTMYVSGPPGPPGPPGPPGSISSSGQEIQQYISE
YMQSDSIRSYLSGVQGPPGPPGPPGPVTTITGETFDYSELASHVVSYLRTSGYGVSLFSS
SISSEDILAVLQRDDVRQYLRQYLMGPRGPPGPPGASGDGSLLSLDYAELSSRILSYMSS
SGISIGLPGPPGPPGLPGTSYEELLSLLRGSEFRGIVGPPGPPGPPGIPGNVWSSISVED
LSSYLHTAGLSFIPGPPGPPGPPGPRGPPGVSGALATYAAENSDSFRSELISYLTSPDVR
SFIVGPPGPPGPQGPPGDSRLLSTDASHSRGSSSSSHSSSVRRGSSYSSSMSTGGGGAGS
LGAGGAFGEAAGDRGPYGTDIGPGGGYGAAAEGGMYAGNGGLLGADFAGDLDYNELAVRV
SESMQRQGLLQGMAYTVQGPPGQPGPQGPPGISKVFSAYSNVTADLMDFFQTYGAIQGPP
GQKGEMGTPGPKGDRGPAGPPGHPGPPGPRGHKGEKGDKGDQVYAGRRRRRSIAVKP

Sequence length

1497

Interactions

View interactions

	KEGG		Reactome
	Protein digestion and absorption		Collagen biosynthesis and modifying enzymes Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell Assembly of collagen fibrils and other multimeric structures Type I hemidesmosome assembly Collagen chain trimerization

Show/Hide Causal Diseases (8)

Disease term	Disease name	dbSNP ID	References
Causal
Amelogenesis imperfecta	Amelogenesis Imperfecta	rs267607178, rs143816093, rs606231351, rs137854435, rs137854440, rs137854441, rs137854444, rs587776587, rs121908109, rs587776588, rs140213840, rs104894704, rs387906487, rs387906488, rs387906489 View all (70 more)	8669466
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966 View all (89 more)
Anonychia	ANONYCHIA	rs74315420, rs74315421, rs74315422, rs74315423, rs387907026, rs387907027, rs387907028, rs780261665, rs775644973, rs370554150
Aplasia cutis congenita	Aplasia Cutis Congenita	rs587777706
Epidermolysis bullosa	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT (disorder), Localized junctional epidermolysis bullosa	rs137852757, rs80356682, rs80356680, rs786205094, rs121912482, rs786205095, rs587776813, rs121912487, rs587776814, rs1558092501, rs80356683, rs118203899, rs118203900, rs1558095794, rs118203901 View all (97 more)	24550734
Epithelial erosion dystrophy	Epithelial Recurrent Erosion Dystrophy, Epithelial recurrent erosion dystrophy	rs121912771, rs797045142, rs760714959, rs765243124	14562173, 25676728
Junctional epidermolysis bullosa	Junctional Epidermolysis Bullosa, Adult junctional epidermolysis bullosa (disorder), Late-onset junctional epidermolysis bullosa, Intermediate generalized junctional epidermolysis bullosa	rs80356682, rs121912482, rs786205095, rs769151482, rs118203901, rs121912467, rs121912468, rs121912769, rs80356681, rs370148688, rs770302956, rs778012079, rs201307156, rs1057516759, rs1057517096 View all (17 more)	10577906, 10951237, 10652291, 12813757, 24550734, 8669466, 9077475, 10636730, 19340010, 9199555, 21357940, 11406649, 14614394, 16354180, 11912005, 9204958 View all (1 more)
Palmoplantar keratoderma	Keratoderma, Palmoplantar	rs59616921, rs1568039793, rs746488412, rs200564757, rs1567027297, rs781596375, rs1567027610, rs398123054, rs398123055, rs398123056, rs398123057, rs398122949, rs398122950, rs397515639, rs398122951 View all (10 more)

Show/Hide Unknown Diseases (3)

Disease term	Disease name	Source
Unknown
Junctional Epidermolysis Bullosa	junctional epidermolysis bullosa, non-Herlitz type, generalized junctional epidermolysis bullosa non-Herlitz type	GenCC
Epidermolysis Bullosa	localized junctional epidermolysis bullosa, non-Herlitz type, epidermolysis bullosa, junctional 4, intermediate	GenCC
Uterine Fibroids	Uterine Fibroids	GWAS

Show/Hide Text Mining Associations (61)

Disease Name	Relationship Type	References
Associations from Text Mining
Adenocarcinoma	Associate	28751461
Adenocarcinoma of Lung	Associate	27891193
Allergic Fungal Sinusitis	Associate	24167818
Amelogenesis Imperfecta	Associate	26502894
Anodontia	Associate	28813618
Anophthalmia with pulmonary hypoplasia	Associate	39376555
Autoimmune Diseases	Associate	20471095
Barrett Esophagus	Associate	28751461
Blister	Associate	11406649, 11710917, 21685452, 22318390, 32235430, 33805154
Breast Neoplasms	Associate	27891193, 32964046, 34293053, 37178414
Carcinoma Basal Cell	Associate	9424087
Carcinoma Non Small Cell Lung	Associate	31449902
Carcinoma Pancreatic Ductal	Associate	40379788
Carcinoma Squamous Cell	Associate	27891193
Cardiovascular Diseases	Stimulate	31449902
Chromosome Disorders	Associate	38459694
Colorectal Neoplasms	Associate	37803411
Corneal Dystrophies Hereditary	Associate	27309958
Dermatitis Atopic	Associate	37540585
Diabetes Mellitus Type 2	Associate	35958564
Disease	Associate	7790367
Dystonic Disorders	Associate	16252234, 9038345
Ectodermal Dysplasia Skin Fragility Syndrome	Associate	8669466, 9457914
Epidermolysis Bullosa	Associate	16252234, 17476356, 20574443, 21685452, 36578049, 39636096
Epidermolysis Bullosa Dystrophica	Stimulate	24007552
Epidermolysis Bullosa Junctional	Associate	10330419, 10577906, 10636730, 10951237, 11851893, 15008985, 16354180, 21357940, 23958762, 33764477, 33805154, 35490295, 38157931, 38522573, 39636096 View all (12 more)
Epidermolysis Bullosa Junctional	Inhibit	7883981
Epidermolysis Bullosa Junctional Non Herlitz Type	Associate	11168815, 11406649, 16252234, 22318390, 33805154, 35717189, 38522573, 39636096
Epidermolysis Bullosa Pruriginosa	Associate	36578049
Epidermolysis Bullosa Simplex	Associate	11851893
Epithelial Recurrent Erosion Dystrophy	Associate	27309958, 29708937, 37289141
Genetic Diseases Inborn	Associate	35717189
Laryngo onycho cutaneous syndrome	Associate	38157931
Leukocyte adhesion deficiency type 1	Associate	9284104
Linear IgA Bullous Dermatosis	Associate	9077469
Lymphatic Metastasis	Associate	31713298
Mixed Connective Tissue Disease	Associate	22053914
Muscular Dystrophy Duchenne	Associate	33764477
Nasal Polyps	Associate	24167818
Neoplasm Metastasis	Associate	35054979
Neoplasms	Associate	27891193, 34293053, 40379788
Neoplasms	Stimulate	37803411
Neoplasms	Inhibit	39354571
Opitz Kaveggia syndrome	Associate	7790367
Ossification of Posterior Longitudinal Ligament	Associate	24668667
Pain	Associate	39636096
Pancreatic Neoplasms	Associate	28611293, 35722628, 36275722, 40486509
Pemphigoid Benign Mucous Membrane	Associate	22053914, 8592065
Pemphigoid Bullous	Associate	11710917, 12445194, 1324962, 14962097, 15008985, 16424234, 1846881, 20471095, 21488867, 23337823, 24167818, 25255430, 28273946, 28351660, 30484821 View all (16 more)
Pemphigoid Gestationis	Associate	20471095, 22535610, 8592065
Pemphigus	Associate	22053914
Retinal Dystrophies	Associate	27309958
Skin Diseases	Associate	14962097, 30837635, 31449902, 33805154
Skin Diseases Vesiculobullous	Associate	8592065
Squamous Cell Carcinoma of Head and Neck	Associate	27891193
Stomach Neoplasms	Associate	39354571
Tooth Abnormalities	Associate	8669466
Tooth Erosion	Associate	33805154
Triple Negative Breast Neoplasms	Associate	31713298
Uniparental Disomy	Associate	35717189
Uterine Cervical Neoplasms	Associate	27891193

COL17A1 (collagen type XVII alpha 1 chain)