Property Summary

NCBI Gene PubMed Count 26
PubMed Score 12.78
PubTator Score 16.46

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (10)

 GO Function (1)

Gene RIF (7)

PMID Text
26626625 Congenital myasthenic syndrome type 19 is caused by mutations in COL13A1.
20708005 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20198315 Observational study of gene-disease association. (HuGE Navigator)
19851296 Observational study of gene-disease association. (HuGE Navigator)
16385451 Observational study of gene-disease association. (HuGE Navigator)
12832406 two widely separated coiled-coil domains of type XIII and related collagens function as independent oligomerization domains participating in the folding of distinct areas of the molecule.
11956183 The type XIII collagen ectodomain is a 150-nm rod and capable of binding to fibronectin, nidogen-2, perlecan, and heparin.

AA Sequence

MVAERTHKAAATGARGPGELGAPGTVALVAARAERGARLPSPGSCGLLTLALCSLALSLLAHFRTAELQA      1 - 70
RVLRLEAERGEQQMETAILGRVNQLLDEKWKLHSRRRREAPKTSPGCNCPPGPPGPTGRPGLPGDKGAIG     71 - 140
MPGRVGSPGDAGLSIIGPRGPPGQPGTRGFPGFPGPIGLDGKPGHPGPKGDMGLTGPPGQPGPQGQKGEK    141 - 210
GQCGEYPHRECLSSMPAALRSSQIIALKLLPLLNSVRLAPPPVIKRRTFQGEQSQASIQGPPGPPGPPGP    211 - 280
SGPLGHPGLPGPMGPPGLPGPPGPKGDPGIQGYHGRKGERGMPGMPGKHGAKGAPGIAVAGMKGEPGIPG    281 - 350
TKGEKGAEGSPGLPGLLGQKGEKGDAGNSIGGGRGEPGPPGLPGPPGPKGEAGVDGQVGPPGQPGDKGER    351 - 420
GAAGEQGPDGPKGSKGEPGKGEMVDYNGNINEALQEIRTLALMGPPGLPGQIGPPGAPGIPGQKGEIGLP    421 - 490
GPPGHDGEKGPRGKPGDMGPPGPQGPPGKDGPPGVKGENGHPGSPGEKGEKGETGQAGSPGEKGEAGEKG    491 - 560
NPGAEVPGLPGPEGPPGPPGLQGVPGPKGEAGLDGAKGEKGFQGEKGDRGPLGLPGASGLDGRPGPPGTP    561 - 630
GPIGVPGPAGPKGERGSKGDPGMTGPTGAAGLPGLHGPPGDKGNRGERGKKGSRGPKGDKGDQGAPGLDA    631 - 700
PCPLGEDGLPVQGCWNK                                                         701 - 717
//

Text Mined References (28)

PMID Year Title
26626625 2015 Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII ?1 Chain.
25082827 2014 A genome-wide association study identifies a novel locus at 6q22.1 associated with ulcerative colitis.
23793441 2013 Parkinson disease loci in the mid-western Amish.
20708005 2010 Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.
20198315 2010 Association of genetic variants with hemorrhagic stroke in Japanese individuals.
19851296 2010 Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals.
16385451 2006 A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
16368877 2006 Genomic annotation of 15,809 ESTs identified from pooled early gestation human eyes.
16341674 2005 Transcriptome analysis of human gastric cancer.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
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