ZFIN is now using GRCz12tu for Genomic Data
Gene
slc12a2
- ID
- ZDB-GENE-040625-53
- Name
- solute carrier family 12 member 2
- Symbol
- slc12a2 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 10 Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Enables chloride:monoatomic cation symporter activity and identical protein binding activity. Acts upstream of or within inner ear morphogenesis and swim bladder inflation. Located in basolateral plasma membrane. Is expressed in several structures, including mesoderm; nervous system; notochord; otic vesicle; and pharyngeal arch. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 78 and middle cerebral artery infarction. Orthologous to human SLC12A2 (solute carrier family 12 member 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 12 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7152613 (19 images)
Wild Type Expression Summary
- All Phenotype Data
- 13 figures from 4 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant nonsyndromic deafness 78 | Alliance | Deafness, autosomal dominant 78 | 619081 |
| Delpire-McNeill syndrome | 619083 | ||
| Kilquist syndrome | 619080 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR004841 | Amino acid permease/ SLC12A domain |
| Domain | IPR013612 | Amino acid permease, N-terminal |
| Domain | IPR018491 | SLC12A transporter, C-terminal |
| Family | IPR002443 | Solute carrier family 12 member 1/2 |
| Family | IPR002444 | Solute carrier family 12 member 2 |
| Family | IPR004842 | SLC12A transporter family |
Domain Details Per Protein
| Protein | Additional Resources | Length | Amino acid permease, N-terminal | Amino acid permease/ SLC12A domain | SLC12A transporter, C-terminal | SLC12A transporter family | Solute carrier family 12 member 1/2 | Solute carrier family 12 member 2 |
|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A0G2KTI4 | InterPro PDB | 1136 | ||||||
| UniProtKB:A0A8M9PTH8 | InterPro | 1134 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
slc12a2-201
(1)
|
Ensembl | 1,137 nt | ||
| mRNA |
slc12a2-202
(1)
|
Ensembl | 3,390 nt | ||
| mRNA |
slc12a2-203
(1)
|
Ensembl | 7,453 nt |
Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-slc12a | monoclonal | IgG1 | Mouse |
|
Developmental Studies Hybridoma Bank
|
5 |
Plasmids
No data available
- Genome Browsers