COL13A1 (collagen type XIII alpha 1 chain)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1305
Gene name Gene Name - the full gene name approved by the HGNC.
Collagen type XIII alpha 1 chain
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
COL13A1
Synonyms (NCBI Gene) Gene synonyms aliases
CMS19, COLXIIIA1
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q22.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes the alpha chain of one of the nonfibrillar collagens. The function of this gene product is not known, however, it has been detected at low levels in all connective tissue-producing cells so it may serve a general function in connective t
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(7)
SNP ID Visualize variation Clinical significance Consequence
rs375471249 T>C Likely-pathogenic Splice donor variant, intron variant
rs763281993 A>- Pathogenic Non coding transcript variant, coding sequence variant, frameshift variant
rs769426298 C>G,T Pathogenic Stop gained, 5 prime UTR variant, coding sequence variant, missense variant, non coding transcript variant
rs864309662 G>- Pathogenic Non coding transcript variant, coding sequence variant, frameshift variant
rs864309663 G>- Pathogenic Non coding transcript variant, coding sequence variant, 5 prime UTR variant, splice acceptor variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(64)
miRTarBase ID miRNA Experiments Reference
MIRT706674 hsa-miR-124-3p HITS-CLIP 21572407
MIRT706695 hsa-miR-3714 HITS-CLIP 21572407
MIRT706696 hsa-miR-3910 HITS-CLIP 21572407
MIRT706694 hsa-miR-3664-5p HITS-CLIP 21572407
MIRT706693 hsa-miR-6808-5p HITS-CLIP 21572407
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(24)
GO ID Ontology Definition Evidence Reference
GO:0001503 Process Ossification IEA
GO:0001763 Process Morphogenesis of a branching structure ISS
GO:0001958 Process Endochondral ossification ISS
GO:0005515 Function Protein binding IPI 11956183
GO:0005576 Component Extracellular region TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
120350 2190 ENSG00000197467
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q5TAT6
Protein name Collagen alpha-1(XIII) chain (COLXIIIA1)
Protein function Involved in cell-matrix and cell-cell adhesion interactions that are required for normal development. May participate in the linkage between muscle fiber and basement membrane. May play a role in endochondral ossification of bone and branching m
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01391 Collagen 156 → 216 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 257 → 322 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 285 → 340 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 318 → 383 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 382 → 441 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 463 → 522 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 506 → 567 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 566 → 625 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 643 → 712 Collagen triple helix repeat (20 copies) Repeat
Tissue specificity TISSUE SPECIFICITY: Widely expressed in both fetal and adult ocular tissues (at protein level). In the eye, expression is accentuated in the ciliary muscle, optic nerve and the neural retina. In early placenta, localized to fibroblastoid stromal cells of
Sequence 
MVAERTHKAAATGARGPGELGAPGTVALVAARAERGARLPSPGSCGLLTLALCSLALSLL
AHFRTAELQARVLRLEAERGEQQMETAILGRVNQLLDEKWKLHSRRRREAPKTSPGCNCP
PGPPGPTGRPGLPGDKGAIGMPGRVGSPGDAGLSIIGPRGPPGQPGTRGFPGFPGPIGLD
GKPGHPGPKGDMGLTGPPGQPGPQGQKGEKGQCGEYPHRECLSSMPAALRSSQIIALKLL
PLLNSVRLAPPPVIKRRTFQGEQSQASIQGPPGPPGPPGPSGPLGHPGLPGPMGPPGLPG
PPGPKGDPGIQGYHGRKGERGMPGMPGKHGAKGAPGIAVAGMKGEPGIPGTKGEKGAEGS
PGLPGLLGQKGEKGDAGNSIGGGRGEPGPPGLPGPPGPKGEAGVDGQVGPPGQPGDKGER
GAAGEQGPDGPKGSKGEPGKGEMVDYNGNINEALQEIRTLALMGPPGLPGQIGPPGAPGI
PGQKGEIGLPGPPGHDGEKGPRGKPGDMGPPGPQGPPGKDGPPGVKGENGHPGSPGEKGE
KGETGQAGSPGEKGEAGEKGNPGAEVPGLPGPEGPPGPPGLQGVPGPKGEAGLDGAKGEK
GFQGEKGDRGPLGLPGASGLDGRPGPPGTPGPIGVPGPAGPKGERGSKGDPGMTGPTGAA
GLPGLHGPPGDKGNRGERGKKGSRGPKGDKGDQGAPGLDAPCPLGEDGLPVQGCWNK
Sequence length 717
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Protein digestion and absorption   Collagen degradation
Collagen biosynthesis and modifying enzymes
Integrin cell surface interactions
Collagen chain trimerization
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Myasthenic Syndrome Congenital myasthenic syndrome 19 rs864309662, rs864309663, rs763281993, rs1554943789 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Ulcerative colitis Ulcerative colitis N/A N/A GWAS
Show/Hide Text Mining Associations (16)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Dyspnea Associate 31081514
Fatty Liver Alcoholic Associate 26845607
Inflammation Associate 20708005
Muscle Weakness Associate 31081514
Myasthenic Syndromes Congenital Associate 31081514, 35337379, 36308527
Neoplasms Associate 28837258
Neuromuscular Junction Diseases Associate 31081514, 35337379
Non alcoholic Fatty Liver Disease Associate 29307798
Non Muscle Invasive Bladder Neoplasms Associate 28837258
Osteoarthritis Associate 20060954