Gene

slc12a5b

ID
ZDB-GENE-080707-1
Name
solute carrier family 12 member 5b
Symbol
slc12a5b Nomenclature History
Previous Names
  • kcc2b (1)
  • slc12a5 (1)
  • si:dkey-253e7.2
  • zfkcc2 (1)
Type
protein_coding_gene
Location
Chr: 8 Mapping Details/Browsers
Description
Predicted to have potassium:chloride symporter activity. Involved in posterior lateral line neuromast development and retina development in camera-type eye. Predicted to localize to integral component of plasma membrane. Is expressed in nervous system. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 34 and idiopathic generalized epilepsy 14. Orthologous to human SLC12A5 (solute carrier family 12 member 5).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
5 figures from 4 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
4 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With slc12a5b Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
developmental and epileptic encephalopathy 34 Alliance Developmental and epileptic encephalopathy 34 616645
idiopathic generalized epilepsy 14 Alliance {Epilepsy, idiopathic generalized, susceptibility to, 14} 616685
Associated With slc12a5b Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR004841 Amino acid permease/ SLC12A domain
Domain IPR018491 SLC12A transporter, C-terminal
Family IPR000076 K/Cl co-transporter
Family IPR004842 SLC12A transporter family
Family IPR030358 K/Cl co-transporter 2
Domain Details Per Protein
Protein Length Amino acid permease/ SLC12A domain K/Cl co-transporter K/Cl co-transporter 2 SLC12A transporter, C-terminal SLC12A transporter family
UniProtKB:F1R5T1 1119
UniProtKB:A0A2R8RX62 1146
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations