Gene
acana
- ID
- ZDB-GENE-050208-221
- Name
- aggrecan a
- Symbol
- acana Nomenclature History
- Previous Names
-
- agca
- agc1
- im:7146049
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to enable calcium ion binding activity; carbohydrate binding activity; and hyaluronic acid binding activity. Acts upstream of or within outflow tract morphogenesis. Predicted to be located in extracellular region. Predicted to be active in extracellular matrix. Is expressed in bulbus arteriosus; cranium; pectoral fin; and pharyngeal arch 3-7. Human ortholog(s) of this gene implicated in spondyloepiphyseal dysplasia Kimberley type. Orthologous to human ACAN (aggrecan).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 11 figures from 11 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7146049 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 5 figures from Rambeau et al., 2017
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| osteochondritis dissecans | Alliance | Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | 165800 |
| spondyloepiphyseal dysplasia Kimberley type | Alliance | ?Spondyloepiphyseal dysplasia, Kimberley type | 608361 |
| Spondyloepimetaphyseal dysplasia, aggrecan type | 612813 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR018378 | C-type lectin, conserved site |
| Domain | IPR000436 | Sushi/SCR/CCP domain |
| Domain | IPR000538 | Link domain |
| Domain | IPR000742 | EGF-like domain |
| Domain | IPR001304 | C-type lectin-like |
| Domain | IPR001881 | EGF-like calcium-binding domain |
| Domain | IPR003599 | Immunoglobulin subtype |
| Domain | IPR007110 | Immunoglobulin-like domain |
| Domain | IPR013106 | Immunoglobulin V-set domain |
| Domain | IPR033987 | Aggrecan/versican, C-type lectin-like domain |
| Homologous_superfamily | IPR013783 | Immunoglobulin-like fold |
| Homologous_superfamily | IPR016186 | C-type lectin-like/link domain superfamily |
| Homologous_superfamily | IPR016187 | C-type lectin fold |
| Homologous_superfamily | IPR035976 | Sushi/SCR/CCP superfamily |
| Homologous_superfamily | IPR036179 | Immunoglobulin-like domain superfamily |
Domain Details Per Protein
| Protein | Length | Aggrecan/versican, C-type lectin-like domain | C-type lectin, conserved site | C-type lectin fold | C-type lectin-like | C-type lectin-like/link domain superfamily | EGF-like calcium-binding domain | EGF-like domain | Immunoglobulin-like domain | Immunoglobulin-like domain superfamily | Immunoglobulin-like fold | Immunoglobulin subtype | Immunoglobulin V-set domain | Link domain | Sushi/SCR/CCP domain | Sushi/SCR/CCP superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q75ZI2
|
287 | |||||||||||||||
|
UniProtKB:E7F537
|
1509 | |||||||||||||||
|
UniProtKB:Q58EI4
|
172 | |||||||||||||||
|
UniProtKB:F1QDA1
|
1547 |
Interactions and Pathways
No data available
Plasmids
No data available