Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
80781
Gene name Gene Name - the full gene name approved by the HGNC.
Collagen type XVIII alpha 1 chain
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
COL18A1
Synonyms (NCBI Gene) Gene synonyms aliases
GLCC, KNO, KNO1, KS
Disease Acronyms (UniProt) Disease acronyms from UniProt database
GLCC, KNO1
Chromosome Chromosome number
21
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
21q22.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes the alpha chain of type XVIII collagen. This collagen is one of the multiplexins, extracellular matrix proteins that contain multiple triple-helix domains (collagenous domains) interrupted by non-collagenous domains. A long isoform of th
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs749009747 C>-,CC Pathogenic, likely-pathogenic Frameshift variant, coding sequence variant
rs775168204 C>-,CC Pathogenic Frameshift variant, coding sequence variant
rs778612831 A>G Likely-pathogenic Splice acceptor variant
rs778909108 C>-,CC Likely-pathogenic Frameshift variant, coding sequence variant
rs786205554 C>G,T Likely-pathogenic Stop gained, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT049203 hsa-miR-92a-3p CLASH 23622248
MIRT037044 hsa-miR-877-3p CLASH 23622248
MIRT527343 hsa-miR-4453 PAR-CLIP 22012620
MIRT527342 hsa-miR-4538 PAR-CLIP 22012620
MIRT527341 hsa-miR-6852-5p PAR-CLIP 22012620
Transcription factors
Transcription factor Regulation Reference
FOXA2 Unknown 11093745
NFIC Unknown 11093745
SP1 Unknown 11093745
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis IBA 21873635
GO:0001886 Process Endothelial cell morphogenesis IBA 21873635
GO:0005201 Function Extracellular matrix structural constituent IBA 21873635
GO:0005576 Component Extracellular region HDA 27068509
GO:0005576 Component Extracellular region TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
120328 2195 ENSG00000182871
Protein
UniProt ID P39060
Protein name Collagen alpha-1(XVIII) chain [Cleaved into: Endostatin; Non-collagenous domain 1 (NC1)]
Protein function Probably plays a major role in determining the retinal structure as well as in the closure of the neural tube. ; [Non-collagenous domain 1]: May regulate extracellular matrix-dependent motility and morphog
PDB 1BNL , 3HON , 3HSH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06121 DUF959 13 194 Domain of Unknown Function (DUF959) Domain
PF01392 Fz 334 440 Fz domain Domain
PF01391 Collagen 791 857 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 927 990 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 1038 1096 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 1070 1128 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 1186 1246 Collagen triple helix repeat (20 copies) Repeat
PF06482 Endostatin 1443 1750 Collagenase NC10 and Endostatin Domain
Tissue specificity TISSUE SPECIFICITY: Detected in placenta (at protein level) (PubMed:32337544). Present in multiple organs with highest levels in liver, lung and kidney. {ECO:0000269|PubMed:32337544}.
Sequence
MAPYPCGCHILLLLFCCLAAARANLLNLNWLWFNNEDTSHAATTIPEPQGPLPVQPTADT
TTHVTPRNGSTEPATAPGSPEPPSELLEDGQDTPTSAESPDAPEENIAGVGAEILNVAKG
IRSFVQLWNDTVPTESLARAETLVLETPVGPLALAGPSSTPQENGTTLWPSRGIPSSPGA
HTTEAGTLPAPTPS
PPSLGRPWAPLTGPSVPPPSSGRASLSSLLGGAPPWGSLQDPDSQG
LSPAAAAPSQQLQRPDVRLRTPLLHPLVMGSLGKHAAPSAFSSGLPGALSQVAVTTLTRD
SGAWVSHVANSVGPGLANNSALLGADPEAPAGRCLPLPPSLPVCGHLGISRFWLPNHLHH
ESGEQVRAGARAWGGLLQTHCHPFLAWFFCLLLVPPCGSVPPPAPPPCCQFCEALQDACW
SRLGGGRLPVACASLPTQED
GYCVLIGPAAERISEEVGLLQLLGDPPPQQVTQTDDPDVG
LAYVFGPDANSGQVARYHFPSLFFRDFSLLFHIRPATEGPGVLFAITDSAQAMVLLGVKL
SGVQDGHQDISLLYTEPGAGQTHTAASFRLPAFVGQWTHLALSVAGGFVALYVDCEEFQR
MPLARSSRGLELEPGAGLFVAQAGGADPDKFQGVIAELKVRRDPQVSPMHCLDEEGDDSD
GASGDSGSGLGDARELLREETGAALKPRLPAPPPVTTPPLAGGSSTEDSRSEEVEEQTTV
ASLGAQTLPGSDSVSTWDGSVRTPGGRVKEGGLKGQKGEPGVPGPPGRAGPPGSPCLPGP
PGLPCPVSPLGPAGPALQTVPGPQGPPGPPGRDGTPGRDGEPGDPGEDGKPGDTGPQGFP
GTPGDVGPKGDKGDPGV
GERGPPGPQGPPGPPGPSFRHDKLTFIDMEGSGFGGDLEALRG
PRGFPGPPGPPGVPGLPGEPGRFGVNSSDVPGPAGLPGVPGREGPPGFPGLPGPPGPPGR
EGPPGRTGQKGSLGEAGAPGHKGSKGAPGP
AGARGESGLAGAPGPAGPPGPPGPPGPPGP
GLPAGFDDMEGSGGPFWSTARSADGPQGPPGLPGLKGDPGVPGLPGAKGEVGADGVPGFP
GLPGREGIAGPQGPKG
DRGSRGEKGDPGKDGVGQPGLPGPPGPPGPVV
YVSEQDGSVLSV
PGPEGRPGFAGFPGPAGPKGNLGSKGERGSPGPKGEKGEPGSIFSPDGGALGPAQKGAKG
EPGFRGPPGPYGRPGYKGEIGFPGRPGRPGMNGLKGEKGEPGDASL
GFGMRGMPGPPGPP
GPPGPPGTPVYDSNVFAESSRPGPPGLPGNQGPPGPKGAKGEVGPPGPPGQFPFDFLQLE
AEMKGEKGDRGDAGQKGERGEPGGGGFFGSSLPGPPGPPGPPGPRGYPGIPGPKGESIRG
QPGPPGPQGPPGIGYEGRQGPPGPPGPPGPPSFPGPHRQTISVPGPPGPPGPPGPPGTMG
ASSGVRLWATRQAMLGQVHEVPEGWLIFVAEQEELYVRVQNGFRKVQLEARTPLPRGTDN
EVAALQPPVVQLHDSNPYPRREHPHPTARPWRADDILASPPRLPEPQPYPGAPHHSSYVH
LRPARPTSPPAHSHRDFQPVLHLVALNSPLSGGMRGIRGADFQCFQQARAVGLAGTFRAF
LSSRLQDLYSIVRRADRAAVPIVNLKDELLFPSWEALFSGSEGPLKPGARIFSFDGKDVL
RHPTWPQKSVWHGSDPNGRRLTESYCETWRTEAPSATGQASSLLGGRLLGQSAASCHHAY
IVLCIENSFM
TASK
Sequence length 1754
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Protein digestion and absorption   Collagen degradation
Activation of Matrix Metalloproteinases
Collagen biosynthesis and modifying enzymes
Assembly of collagen fibrils and other multimeric structures
Integrin cell surface interactions
Laminin interactions
Collagen chain trimerization
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Alzheimer disease Alzheimer`s Disease rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039
View all (65 more)
26830138
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)
Corneal dystrophy Corneal Dystrophy, Band-Shaped rs121909212, rs121909214, rs760714959, rs766305306, rs1554579819, rs1554579832, rs1554579878
Dextrocardia Dextrocardia rs1555672928
Unknown
Disease term Disease name Evidence References Source
Hemangiosarcoma Hemangiosarcoma 17569031 ClinVar
Knobloch Syndrome Knobloch syndrome 1 GenCC
Glaucoma hereditary glaucoma, primary closed-angle GenCC
Cervical Cancer Cervical Cancer Our screens identified 10 miRNAs that enhance fitness of HeLa cells and have been reported to be up-regulated in cervical cancer (Table2). GWAS, CBGDA
Associations from Text Mining
Disease Name Relationship Type References
AA amyloidosis Associate 12408231
Adenoma Associate 21274745
Adrenal Insufficiency Associate 32178553
Adrenocortical Carcinoma Associate 22358232
Alzheimer Disease Associate 12408231, 33633844
Anemia Sickle Cell Associate 38353026
Aortic Aneurysm Abdominal Associate 29656960
Arthritis Rheumatoid Associate 22450926
Atrophy Associate 32178553
Breast Neoplasms Associate 16552441, 17587451