MultifacetedProtDB - Bologna Biocomputing Group

PDB	Resolution (Å)	PDB name
6M23	3.2	Overall structure of KCC2
7D8Z	3.4	human potassium-chloride co-transporter KCC2

GO ontology	GO term	GO description
Biological Process	GO:0006884	cell volume homeostasis
Biological Process	GO:0007268	chemical synaptic transmission
Biological Process	GO:0055064	chloride ion homeostasis
Biological Process	GO:1902476	chloride transmembrane transport
Biological Process	GO:0060996	dendritic spine development
Biological Process	GO:0006971	hypotonic response
Biological Process	GO:0030644	intracellular chloride ion homeostasis
Biological Process	GO:0051452	intracellular pH reduction
Biological Process	GO:0007612	learning
Biological Process	GO:0006811	monoatomic ion transport
Biological Process	GO:0035264	multicellular organism growth
Biological Process	GO:0055075	potassium ion homeostasis
Biological Process	GO:1990573	potassium ion import across plasma membrane
Biological Process	GO:0009410	response to xenobiotic stimulus
Biological Process	GO:0040040	thermosensory behavior
Molecular Function	GO:0008519	ammonium transmembrane transporter activity
Molecular Function	GO:0015108	chloride transmembrane transporter activity
Molecular Function	GO:0015379	potassium:chloride symporter activity
Molecular Function	GO:0019901	protein kinase binding
Cellular Component	GO:0071944	cell periphery
Cellular Component	GO:0032590	dendrite membrane
Cellular Component	GO:0016020	membrane
Cellular Component	GO:0043005	neuron projection
Cellular Component	GO:0043025	neuronal cell body
Cellular Component	GO:0043204	perikaryon
Cellular Component	GO:0005886	plasma membrane
Cellular Component	GO:0045202	synapse

InterPro	InterPro name
IPR000076	K/Cl co-transporter
IPR004841	Amino acid permease/ SLC12A domain
IPR004842	SLC12A transporter family
IPR018491	SLC12A transporter, C-terminal

Pfam	Pfam name
PF00324	Amino acid permease
PF03522	Solute carrier family 12

Location	ECO term	Pubmed
Cell membrane	ECO:0000250
Cell projection, dendrite	ECO:0000250

HPO ID	HPO name
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001263	Global developmental delay
HP:0002059	Cerebral atrophy
HP:0002069	Bilateral tonic-clonic seizure
HP:0002121	Generalized non-motor (absence) seizure
HP:0002123	Generalized myoclonic seizure
HP:0002133	Status epilepticus
HP:0002188	Delayed CNS myelination
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
HP:0002376	Developmental regression
HP:0002540	Inability to walk
HP:0003593	Infantile onset
HP:0003621	Juvenile onset
HP:0003781	Excessive salivation
HP:0003829	Typified by incomplete penetrance
HP:0005484	Secondary microcephaly
HP:0006813	Focal hemiclonic seizure
HP:0007256	Abnormal pyramidal sign
HP:0007334	Bilateral tonic-clonic seizure with focal onset
HP:0007359	Focal-onset seizure
HP:0011463	Childhood onset
HP:0025709	Intermediate young adult onset

Tissue	Cell type	Expression level	Reliability
cerebellum	molecular layer - neuropil	Medium	Enhanced
cerebellum	molecular layer cells - cytoplasm/membrane	Medium	Enhanced
cerebellum	processes in molecular layer	Medium	Enhanced
cerebellum	synaptic glomeruli - core	Medium	Enhanced
cerebral cortex	neuronal cells	Medium	Enhanced
cerebral cortex	neuropil	Medium	Enhanced

Disease name	MONDO ID	ICD10	ICD10 chapter	OMIM	Orphanet
developmental and epileptic encephalopathy, 34	MONDO:0014718	G40	chapter6, Diseases of the nervous system	OMIM:616645
epilepsy- idiopathic generalized- susceptibility to- 14	MONDO:0014734	G40	chapter6, Diseases of the nervous system	OMIM:616685