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Aliases for COL13A1 Gene

Aliases for COL13A1 Gene

  • Collagen Type XIII Alpha 1 Chain 2 3 5
  • Collagen, Type XIII, Alpha 1 2 3
  • COLXIIIA1 3 4
  • Collagen Alpha-1(XIII) Chain 3
  • CMS19 3

External Ids for COL13A1 Gene

Previous GeneCards Identifiers for COL13A1 Gene

  • GC10P070372
  • GC10P070648
  • GC10P071454
  • GC10P070906
  • GC10P071231
  • GC10P071561
  • GC10P065553

Summaries for COL13A1 Gene

Entrez Gene Summary for COL13A1 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 tissues. Unlike most of the collagens, which are secreted into the extracellular matrix, collagen XIII contains a transmembrane domain and the protein has been localized to the plasma membrane. The transcripts for this gene undergo complex and extensive splicing involving at least eight exons. Like other collagens, collagen XIII is a trimer; it is not known whether this trimer is composed of one or more than one alpha chain isomer. A number of alternatively spliced transcript variants have been described, but the full length nature of some of them has not been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for COL13A1 Gene

COL13A1 (Collagen Type XIII Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL13A1 include Myasthenic Syndrome, Congenital, 19 and Postsynaptic Congenital Myasthenic Syndromes. Among its related pathways are ERK Signaling and Collagen chain trimerization. Gene Ontology (GO) annotations related to this gene include heparin binding. An important paralog of this gene is COL25A1.

UniProtKB/Swiss-Prot for COL13A1 Gene

  • 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 morphogenesis of lung. Binds heparin. At neuromuscular junctions, may play a role in acetylcholine receptor clustering (PubMed:26626625).

Gene Wiki entry for COL13A1 Gene

Additional gene information for COL13A1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COL13A1 Gene

Genomics for COL13A1 Gene

GeneHancer (GH) Regulatory Elements for COL13A1 Gene

Promoters and enhancers for COL13A1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J069800 Promoter/Enhancer 1.4 Ensembl ENCODE 650.7 +0.7 651 3.7 PKNOX1 SIN3A FEZF1 YY1 GLIS2 ZNF143 KLF7 KLF13 SP3 ZNF610 COL13A1 TYSND1 LOC105378347
GH10J069801 Enhancer 0.6 ENCODE 654.9 -1.6 -1573 0.2 CTCF ZNF654 REST ZNF398 RAD21 XRCC5 GLIS1 HNF4G ZNF143 SMC3 COL13A1 RPL5P26
GH10J069861 Enhancer 1.2 Ensembl ENCODE dbSUPER 11.3 +59.9 59915 1.5 PKNOX1 NFIB KLF17 RAD21 ZNF335 EGR1 ZNF366 ZSCAN5C FOS EGR2 COL13A1 LOC105378347 LOC102723350
GH10J069845 Enhancer 1 Ensembl ENCODE dbSUPER 11.7 +45.1 45118 3.1 SCRT1 MAFG ZIC2 ZKSCAN1 MAFF ZNF316 POLR2A GLIS1 FOS MAFK COL13A1 FAM241B LOC105378347 LOC102723350
GH10J069854 Enhancer 1 ENCODE dbSUPER 11.4 +54.0 53983 3.4 HDAC1 PKNOX1 ATF1 NCOA2 GATA2 EGR1 ATF7 CEBPB NFIL3 ZFP69B COL13A1 LOC105378347 LOC102723350
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COL13A1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the COL13A1 gene promoter:
  • Oct-B1
  • oct-B2
  • oct-B3
  • POU2F1
  • POU2F1a
  • POU2F2
  • POU2F2 (Oct-2.1)
  • Arnt
  • AhR
  • POU2F2C

Genomic Locations for COL13A1 Gene

Genomic Locations for COL13A1 Gene
162,413 bases
Plus strand
162,388 bases
Plus strand

Genomic View for COL13A1 Gene

Genes around COL13A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COL13A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COL13A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COL13A1 Gene

Proteins for COL13A1 Gene

  • Protein details for COL13A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Collagen alpha-1(XIII) chain
    Protein Accession:
    Secondary Accessions:
    • A6NFR5
    • B9EGD2
    • E7EWL8
    • Q13992
    • Q13993
    • Q13994
    • Q13995
    • Q13996
    • Q5TAT4
    • Q5TAT5
    • Q7KZ33
    • Q7KZ49
    • Q99228
    • Q9NQ52

    Protein attributes for COL13A1 Gene

    717 amino acids
    Molecular mass:
    69950 Da
    Quaternary structure:
    • Homotrimer; disulfide-linked. Nucleation of the type XIII collagen triple helix is likely to occur at the N-terminal region with triple helix formation proceeding from the N- to the C-terminus. Interacts with FN1, perlecan/HSPG2 and NID2.
    • Sequence=AAA51685.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for COL13A1 Gene

neXtProt entry for COL13A1 Gene

Post-translational modifications for COL13A1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for COL13A1 Gene

Domains & Families for COL13A1 Gene

Gene Families for COL13A1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for COL13A1 Gene

Suggested Antigen Peptide Sequences for COL13A1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with COL13A1: view

No data available for UniProtKB/Swiss-Prot for COL13A1 Gene

Function for COL13A1 Gene

Molecular function for COL13A1 Gene

UniProtKB/Swiss-Prot 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 morphogenesis of lung. Binds heparin. At neuromuscular junctions, may play a role in acetylcholine receptor clustering (PubMed:26626625).
GENATLAS Biochemistry:
collagen,type XIII,alpha 1,short chain

Phenotypes From GWAS Catalog for COL13A1 Gene

Gene Ontology (GO) - Molecular Function for COL13A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11956183
GO:0008201 heparin binding IEA,IDA 11956183
genes like me logo Genes that share ontologies with COL13A1: view
genes like me logo Genes that share phenotypes with COL13A1: view

Human Phenotype Ontology for COL13A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for COL13A1 Gene

MGI Knock Outs for COL13A1:

Animal Model Products

  • Taconic Biosciences Mouse Models for COL13A1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COL13A1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for COL13A1 Gene

Localization for COL13A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COL13A1 Gene

Cell membrane; Single-pass type II membrane protein. Cell junction, synapse, postsynaptic cell membrane.

Subcellular locations from

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 COL13A1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
endoplasmic reticulum 5
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for COL13A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005581 collagen trimer IEA --
GO:0005600 collagen type XIII trimer TAS 2459707
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with COL13A1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for COL13A1 Gene

Pathways & Interactions for COL13A1 Gene

genes like me logo Genes that share pathways with COL13A1: view

Gene Ontology (GO) - Biological Process for COL13A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001763 morphogenesis of a branching structure ISS --
GO:0001958 endochondral ossification ISS --
GO:0007155 cell adhesion IEA --
GO:0007160 cell-matrix adhesion IPI 11956183
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with COL13A1: view

No data available for SIGNOR curated interactions for COL13A1 Gene

Drugs & Compounds for COL13A1 Gene

(2) Drugs for COL13A1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
atorvastatin Approved Pharma Competitive, Inhibitor 0
Simvastatin Approved Pharma Competitive, Inhibitor HMG-CoA reductase inhibitor 537
genes like me logo Genes that share compounds with COL13A1: view

Transcripts for COL13A1 Gene

Unigene Clusters for COL13A1 Gene

Collagen, type XIII, alpha 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COL13A1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for COL13A1 Gene

No ASD Table

Relevant External Links for COL13A1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for COL13A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for COL13A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for COL13A1 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x11.5), Brain - Cerebellum (x10.8), and Artery - Aorta (x4.4).

Protein differential expression in normal tissues from HIPED for COL13A1 Gene

This gene is overexpressed in Breast (46.6), NK cells (8.7), and Pancreatic juice (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for COL13A1 Gene

Protein tissue co-expression partners for COL13A1 Gene

NURSA nuclear receptor signaling pathways regulating expression of COL13A1 Gene:


SOURCE GeneReport for Unigene cluster for COL13A1 Gene:


mRNA Expression by UniProt/SwissProt for COL13A1 Gene:

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 the placental villi, to endothelial cells of developing capillaries and to cells of the cytotrophoblastic columns. Also detected in large decidual cells of the decidual membrane and to stromal cells of the gestational endometrium, but not in the epithelial cells in the endometrial glands. Isoform 10: Expressed in muscle (PubMed:26626625).
genes like me logo Genes that share expression patterns with COL13A1: view

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for COL13A1 Gene

Orthologs for COL13A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for COL13A1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia COL13A1 34 33
  • 99.18 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 91 (a)
-- 34
  • 81 (a)
(Canis familiaris)
Mammalia COL13A1 34 33
  • 90.57 (n)
(Bos Taurus)
Mammalia COL13A1 34 33
  • 88.46 (n)
(Mus musculus)
Mammalia Col13a1 16 34 33
  • 87.43 (n)
(Rattus norvegicus)
Mammalia Col13a1 33
  • 86.64 (n)
(Monodelphis domestica)
Mammalia COL13A1 34
  • 80 (a)
(Gallus gallus)
Aves COL13A1 34 33
  • 70.88 (n)
(Anolis carolinensis)
Reptilia COL13A1 34
  • 73 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100498211 33
  • 61.49 (n)
(Danio rerio)
Actinopterygii wu:fb83c11 33
  • 59.3 (n)
COL13A1 34
  • 55 (a)
(Caenorhabditis elegans)
Secernentea col-135 34
  • 33 (a)
sea squirt
(Ciona savignyi)
Ascidiacea Cin.2697 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2697 33
Species where no ortholog for COL13A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • wheat (Triticum aestivum)

Evolution for COL13A1 Gene

Gene Tree for COL13A1 (if available)
Gene Tree for COL13A1 (if available)
Evolutionary constrained regions (ECRs) for COL13A1: view image

Paralogs for COL13A1 Gene

Paralogs for COL13A1 Gene

(8) SIMAP similar genes for COL13A1 Gene using alignment to 13 proteins:

  • E7ES46_HUMAN
  • E7ES47_HUMAN
  • E7ES49_HUMAN
  • E7ES50_HUMAN
  • E7ES51_HUMAN
  • E7ES55_HUMAN
  • E7ES56_HUMAN
  • E7EX21_HUMAN
  • G5E987_HUMAN
genes like me logo Genes that share paralogs with COL13A1: view

Variants for COL13A1 Gene

Sequence variations from dbSNP and Humsavar for COL13A1 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs864309662 pathogenic, Myasthenic syndrome, congenital, 19 69,922,768(+) GGG/GG coding_sequence_variant, frameshift, non_coding_transcript_variant
rs864309663 pathogenic, Myasthenic syndrome, congenital, 19 69,888,303(+) GGG/GG 5_prime_UTR_variant, coding_sequence_variant, non_coding_transcript_variant, splice_acceptor_variant
rs763281993 pathogenic, not provided 69,894,688(+) AAAAA/AAAA coding_sequence_variant, frameshift, non_coding_transcript_variant
rs769426298 pathogenic, not provided 69,802,694(+) C/G/T 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant, stop_gained
rs375471249 likely-pathogenic, not provided 69,872,212(+) T/C intron_variant, splice_donor_variant

Structural Variations from Database of Genomic Variants (DGV) for COL13A1 Gene

Variant ID Type Subtype PubMed ID
esv1107415 CNV insertion 17803354
esv2604076 CNV insertion 19546169
esv2761603 CNV gain 21179565
esv32737 CNV gain+loss 17666407
esv3623757 CNV gain 21293372
esv3623758 CNV loss 21293372
nsv428233 CNV gain 18775914
nsv470962 CNV loss 18288195
nsv509358 CNV insertion 20534489
nsv516370 CNV gain 19592680
nsv519900 CNV gain 19592680
nsv520046 CNV loss 19592680
nsv527896 CNV loss 19592680
nsv551478 CNV loss 21841781
nsv7043 CNV insertion 18451855

Variation tolerance for COL13A1 Gene

Residual Variation Intolerance Score: 46.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.41; 54.42% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COL13A1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL13A1 Gene

Disorders for COL13A1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for COL13A1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
myasthenic syndrome, congenital, 19
  • cms19
postsynaptic congenital myasthenic syndromes
  • congenital myasthenic syndromes, postsynaptic
presynaptic congenital myasthenic syndromes
  • congenital myasthenic syndromes, presynaptic
congenital myasthenic syndrome
  • familial limb-girdle myasthenia
brittle cornea syndrome 2
  • bcs2
- elite association - COSMIC cancer census association via MalaCards


  • Myasthenic syndrome, congenital, 19 (CMS19) [MIM:616720]: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. {ECO:0000269 PubMed:26626625}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for COL13A1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with COL13A1: view

No data available for Genatlas for COL13A1 Gene

Publications for COL13A1 Gene

  1. Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain. (PMID: 26626625) Logan CV … Beeson D (American journal of human genetics 2015) 3 4 58
  2. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M … Yamada Y (American journal of hypertension 2010) 3 44 58
  3. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T … Yamada Y (International journal of molecular medicine 2010) 3 44 58
  4. Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease. (PMID: 20708005) Chalasani N … Nonalcoholic Steatohepatitis Clinical Research Network (Gastroenterology 2010) 3 44 58
  5. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 44 58

Products for COL13A1 Gene

Sources for COL13A1 Gene

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