Features Interactions Isoform Disease Linear motifs Fingerprint Network All partners

CLCN3_HUMAN

Evidence for PS localization

GO
G2C
SynGO
SynaptomeDB
HPA (protein expression in neurons)

Functions

Strongly outwardly rectifying, electrogenic H(+)/Cl(-)exchanger which mediates the exchange of chloride ions against protons. [View more on UniProt]

Protein features

Binary interactions with known binding regions

Interacting region for partners were not defined.

Network

Download full PS network for entry.

Isoforms

Disease-causing germline mutations

Position Amino acid Mutation Disease Overlap with binding region
85 Tyr Cys Neurodevelopmentaldisorderwithhypotoniaandbrainabnormalities(NEDHYBA) -
252 Ile Thr Neurodevelopmentaldisorderwithhypotoniaandbrainabnormalities(NEDHYBA) -
324 Val Ala Neurodevelopmentaldisorderwithhypotoniaandbrainabnormalities(NEDHYBA) -
453 Ser Arg Neurodevelopmentaldisorderwithhypotoniaandbrainabnormalities(NEDHYBA) -
570 Thr Ile Neurodevelopmentaldisorderwithhypotoniaandbrainabnormalities(NEDHYBA) -
607 Ile Thr Neurodevelopmentaldisorderwithhypotoniaandbrainabnormalities(NEDHYBA) -
772 Val Ala Neurodevelopmentaldisorderwithhypotoniaandbrainabnormalities(NEDHYBA) -

Linear motifs

ELM instance Name Type Start End Partner
ELMI002608 LIG_PDZ_Class_1 LIG 861 866 -

Fingerprint

Molecular function

Term Name % Distance from the top of the tree Annotated in CLCN3_HUMAN
GO:0008324 cation transmembrane transporter activity 50.0000 4 yes
GO:0022890 inorganic cation transmembrane transporter activity 50.0000 4 yes
GO:0005216 ion channel activity 37.5000 4 yes
GO:0005524 ATP binding 37.5000 5 yes
GO:0015267 channel activity 37.5000 4 yes
GO:0017076 purine nucleotide binding 37.5000 4 yes
GO:0022836 gated channel activity 37.5000 5 yes
GO:0022853 active ion transmembrane transporter activity 37.5000 4 yes
GO:0030165 PDZ domain binding 37.5000 4 yes
GO:0030554 adenyl nucleotide binding 37.5000 5 yes
GO:0032555 purine ribonucleotide binding 37.5000 4 yes
GO:0032559 adenyl ribonucleotide binding 37.5000 5 yes
GO:0035639 purine ribonucleoside triphosphate binding 37.5000 4 yes
GO:0005225 volume-sensitive anion channel activity 25.0000 6 yes
GO:0005244 voltage-gated ion channel activity 25.0000 4 yes
GO:0005247 voltage-gated chloride channel activity 25.0000 6 yes
GO:0005253 anion channel activity 25.0000 5 yes
GO:0005254 chloride channel activity 25.0000 6 yes
GO:0005451 monovalent cation:proton antiporter activity 25.0000 5 yes
GO:0008308 voltage-gated anion channel activity 25.0000 5 yes
GO:0008509 anion transmembrane transporter activity 25.0000 4 yes
GO:0015078 proton transmembrane transporter activity 25.0000 5 yes
GO:0015103 inorganic anion transmembrane transporter activity 25.0000 4 yes
GO:0015108 chloride transmembrane transporter activity 25.0000 5 yes
GO:0015291 secondary active transmembrane transporter activity 25.0000 4 yes
GO:0015297 antiporter activity 25.0000 5 yes
GO:0015298 solute:cation antiporter activity 25.0000 5 yes
GO:0015299 solute:proton antiporter activity 25.0000 6 yes
GO:0022832 voltage-gated channel activity 25.0000 6 yes
GO:0072320 volume-sensitive chloride channel activity 25.0000 7 yes

Biological process

Term Name % Distance from top the of the tree Annotated in CLCN3_HUMAN
GO:0006811 ion transport 50.0000 4 yes
GO:0006812 cation transport 37.5000 5 yes
GO:0006873 cellular ion homeostasis 37.5000 4 yes
GO:0007268 chemical synaptic transmission 37.5000 6 yes
GO:0009889 regulation of biosynthetic process 37.5000 4 yes
GO:0009893 positive regulation of metabolic process 37.5000 4 yes
GO:0030003 cellular cation homeostasis 37.5000 5 yes
GO:0031323 regulation of cellular metabolic process 37.5000 4 yes
GO:0048522 positive regulation of cellular process 37.5000 4 yes
GO:0048878 chemical homeostasis 37.5000 4 yes
GO:0050801 ion homeostasis 37.5000 5 yes
GO:0055080 cation homeostasis 37.5000 6 yes
GO:0060249 anatomical structure homeostasis 37.5000 4 yes
GO:0061024 membrane organization 37.5000 4 yes
GO:0098771 inorganic ion homeostasis 37.5000 6 yes
GO:0098916 anterograde trans-synaptic signaling 37.5000 5 yes
GO:0099537 trans-synaptic signaling 37.5000 4 yes
GO:0006820 anion transport 25.0000 5 yes
GO:0006821 chloride transport 25.0000 7 yes
GO:0006885 regulation of pH 25.0000 8 yes
GO:0006911 phagocytosis, engulfment 25.0000 7 yes
GO:0008344 adult locomotory behavior 25.0000 4 yes
GO:0008361 regulation of cell size 25.0000 5 yes
GO:0009891 positive regulation of biosynthetic process 25.0000 5 yes
GO:0010324 membrane invagination 25.0000 5 yes
GO:0015698 inorganic anion transport 25.0000 6 yes
GO:0030004 cellular monovalent inorganic cation homeostasis 25.0000 6 yes
GO:0030641 regulation of cellular pH 25.0000 7 yes
GO:0031325 positive regulation of cellular metabolic process 25.0000 5 yes
GO:0032535 regulation of cellular component size 25.0000 4 yes
GO:0035249 synaptic transmission, glutamatergic 25.0000 7 yes
GO:0045794 negative regulation of cell volume 25.0000 4 yes
GO:0048388 endosomal lumen acidification 25.0000 10 yes
GO:0051452 intracellular pH reduction 25.0000 9 yes
GO:0051453 regulation of intracellular pH 25.0000 8 yes
GO:0051932 synaptic transmission, GABAergic 25.0000 7 yes
GO:0055067 monovalent inorganic cation homeostasis 25.0000 7 yes
GO:0097401 synaptic vesicle lumen acidification 25.0000 4 yes
GO:0098655 cation transmembrane transport 25.0000 4 yes
GO:0098656 anion transmembrane transport 25.0000 4 yes
GO:0098660 inorganic ion transmembrane transport 25.0000 4 yes
GO:0098661 inorganic anion transmembrane transport 25.0000 5 yes
GO:0098662 inorganic cation transmembrane transport 25.0000 5 yes
GO:0099024 plasma membrane invagination 25.0000 6 yes
GO:1902476 chloride transmembrane transport 25.0000 6 yes
GO:1902600 proton transmembrane transport 25.0000 6 yes
GO:1903426 regulation of reactive oxygen species biosynthetic process 25.0000 5 yes
GO:1903428 positive regulation of reactive oxygen species biosynthetic process 25.0000 6 yes
GO:2000377 regulation of reactive oxygen species metabolic process 25.0000 5 yes
GO:2000379 positive regulation of reactive oxygen species metabolic process 25.0000 6 yes
GO:0008104 protein localization 25.0000 4 no
GO:0015031 protein transport 25.0000 4 no
GO:0048523 negative regulation of cellular process 25.0000 4 no
GO:0071702 organic substance transport 25.0000 4 no
GO:0071705 nitrogen compound transport 25.0000 4 no

Disease

No data found.

All partners

Uniprot ID Details Highest evidence Localizing into PSD HPA (protein expression in neurons)
NHRF1_HUMAN [view interactions] Low throughput no no
GOPC_HUMAN [view entry] [view interactions] Low throughput yes yes
CFTR_HUMAN [view interactions] Low throughput no no
CLCN3_HUMAN [view entry] [view interactions] Low throughput yes yes
NHRF3_HUMAN [view interactions] Low throughput no no
SCAP_HUMAN [view interactions] High throughput no yes
ACHD_HUMAN [view entry] [view interactions] High throughput yes no
ICOSL_HUMAN [view interactions] High throughput no yes
AVR2B_HUMAN [view interactions] High throughput no no
CIB2_HUMAN [view interactions] High throughput no yes
CP19A_HUMAN [view interactions] High throughput no no
AT2B2_HUMAN [view entry] [view interactions] High throughput yes yes
SCAM1_HUMAN [view interactions] High throughput no no
DNJC5_HUMAN [view interactions] High throughput no yes
LEG8_HUMAN [view entry] [view interactions] High throughput yes yes
TPC2_HUMAN [view interactions] High throughput no no
LEG3_HUMAN [view interactions] High throughput no yes
TMM9B_HUMAN [view interactions] High throughput no yes
GGA1_HUMAN [view interactions] High throughput no yes
MIC19_HUMAN [view entry] [view interactions] High throughput yes yes
H2B2E_HUMAN [view interactions] High throughput no yes
HSPB1_HUMAN [view entry] [view interactions] High throughput yes no
LEG9_HUMAN [view interactions] High throughput no yes
LYPD3_HUMAN [view interactions] High throughput no no
TRI25_HUMAN [view interactions] High throughput no yes
LARP7_HUMAN [view interactions] High throughput no yes
APEX1_HUMAN [view interactions] High throughput no yes
TNF12_HUMAN [view interactions] High throughput no yes
TMEM9_HUMAN [view interactions] High throughput no no
O10H2_HUMAN [view interactions] High throughput no no
CLCN5_HUMAN [view interactions] High throughput no yes
LEG9B_HUMAN [view interactions] High throughput no no
FEM1A_HUMAN [view interactions] High throughput no no
OR4N2_HUMAN [view interactions] High throughput no no
KCNE3_HUMAN [view interactions] High throughput no yes
V2R_HUMAN [view interactions] High throughput no no
CLC4E_HUMAN [view interactions] High throughput no no
TM116_HUMAN [view interactions] High throughput no yes
MOGT2_HUMAN [view interactions] High throughput no yes
PCDB7_HUMAN [view interactions] High throughput no yes
CNGA4_HUMAN [view interactions] High throughput no no
ASB14_HUMAN [view interactions] High throughput no no
CP26B_HUMAN [view interactions] High throughput no yes
CIA2A_HUMAN [view interactions] High throughput no yes
TTMP_HUMAN [view interactions] High throughput no no
PIGH_HUMAN [view interactions] High throughput no yes
PCDB3_HUMAN [view interactions] High throughput no no
CC107_HUMAN [view interactions] High throughput no no