Gene

col18a1a

ID
ZDB-GENE-030516-3
Name
collagen type XVIII alpha 1 chain a
Symbol
col18a1a Nomenclature History
Previous Names
  • cb371 (1)
  • col18a1
  • cb529 (1)
  • fc96d06
  • sb:cb529 (1)
  • wu:fb47h10
  • wu:fb77g12
  • wu:fc50f04
  • wu:fc96d06
  • wu:fk02h12
Type
protein_coding_gene
Location
Chr: 9 Mapping Details/Browsers
Description
Predicted to have extracellular matrix structural constituent. Involved in neural crest cell migration. Predicted to localize to extracellular matrix and extracellular space. Is expressed in several structures, including anterior neural keel; digestive system; nervous system; neural plate; and pronephros. Human ortholog(s) of this gene implicated in primary angle-closure glaucoma. Orthologous to human COL18A1 (collagen type XVIII alpha 1 chain).
Genome Resources
Note
None
Expression
All Expression Data
25 figures from 8 publications
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
Fig. 4 from Banerjee et al., 2013
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With col18a1a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Glaucoma, primary closed-angle 618880
Knobloch syndrome, type 1 267750
Associated With col18a1a Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR001791 Laminin G domain
Domain IPR010515 Collagenase NC10/endostatin
Domain IPR020067 Frizzled domain
Domain IPR035523 Collagen alpha-1(XVIII) chain, frizzled domain
Homologous_superfamily IPR013320 Concanavalin A-like lectin/glucanase domain superfamily
Homologous_superfamily IPR016186 C-type lectin-like/link domain superfamily
Homologous_superfamily IPR016187 C-type lectin fold
Homologous_superfamily IPR036790 Frizzled cysteine-rich domain superfamily
Repeat IPR008160 Collagen triple helix repeat
Domain Details Per Protein
Protein Length Collagen alpha-1(XVIII) chain, frizzled domain Collagenase NC10/endostatin Collagen triple helix repeat Concanavalin A-like lectin/glucanase domain superfamily C-type lectin fold C-type lectin-like/link domain superfamily Frizzled cysteine-rich domain superfamily Frizzled domain Laminin G domain
UniProtKB:Q2PBM8 1134
UniProtKB:Q2PBM9 1100
UniProtKB:B0S8G3 1349
UniProtKB:Q2PBM7 1396
UniProtKB:B0S8G4 1645
UniProtKB:Q4TZW4 361
UniProtKB:B0S8G5 1383
UniProtKB:Q8AWC6 361
UniProtKB:Q4TZW5 183
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations