CLCN3_HUMAN
Evidence for PS localization
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
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 | - |
| 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:0022836 | gated channel activity | 37.5000 | 5 | yes |
| GO:0030165 | PDZ domain binding | 37.5000 | 4 | yes |
| GO:0030554 | adenyl nucleotide binding | 37.5000 | 6 | 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:0043168 | anion binding | 37.5000 | 4 | yes |
| GO:0000166 | nucleotide binding | 37.5000 | 4 | yes |
| GO:0005216 | monoatomic 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 | 5 | yes |
| GO:0022832 | voltage-gated channel activity | 25.0000 | 6 | yes |
| GO:0072320 | volume-sensitive chloride channel activity | 25.0000 | 7 | yes |
| GO:0008324 | monoatomic cation transmembrane transporter activity | 25.0000 | 4 | no |
| GO:0043169 | cation binding | 25.0000 | 4 | no |
| GO:0005225 | volume-sensitive anion channel activity | 25.0000 | 6 | yes |
| GO:0005244 | voltage-gated monoatomic ion channel activity | 25.0000 | 5 | yes |
| GO:0005247 | voltage-gated chloride channel activity | 25.0000 | 7 | yes |
| GO:0005253 | monoatomic anion channel activity | 25.0000 | 5 | yes |
| GO:0005254 | chloride channel activity | 25.0000 | 6 | yes |
| GO:0008308 | voltage-gated monoatomic anion channel activity | 25.0000 | 6 | yes |
| GO:0008509 | monoatomic anion transmembrane transporter activity | 25.0000 | 4 | 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 |
Biological process
| Term | Name | % | Distance from top the of the tree | Annotated in CLCN3_HUMAN |
|---|---|---|---|---|
| GO:0006811 | monoatomic ion transport | 37.5000 | 4 | yes |
| GO:0006812 | monoatomic cation transport | 37.5000 | 5 | yes |
| GO:0006873 | intracellular monoatomic ion homeostasis | 37.5000 | 4 | yes |
| GO:0009889 | regulation of biosynthetic process | 37.5000 | 4 | yes |
| GO:0009891 | positive regulation of biosynthetic process | 37.5000 | 5 | yes |
| GO:0009893 | positive regulation of metabolic process | 37.5000 | 4 | yes |
| GO:0030003 | intracellular monoatomic cation homeostasis | 37.5000 | 5 | yes |
| GO:0031323 | regulation of cellular metabolic process | 37.5000 | 4 | yes |
| GO:0031325 | positive regulation of cellular metabolic process | 37.5000 | 5 | yes |
| GO:0048522 | positive regulation of cellular process | 37.5000 | 4 | yes |
| GO:0055080 | monoatomic cation homeostasis | 37.5000 | 4 | yes |
| GO:0061024 | membrane organization | 37.5000 | 4 | yes |
| GO:0006820 | monoatomic anion transport | 25.0000 | 5 | yes |
| GO:0006821 | chloride transport | 25.0000 | 5 | yes |
| GO:0006911 | phagocytosis, engulfment | 25.0000 | 7 | yes |
| GO:0007268 | chemical synaptic transmission | 25.0000 | 7 | yes |
| GO:0008344 | adult locomotory behavior | 25.0000 | 4 | yes |
| GO:0008361 | regulation of cell size | 25.0000 | 5 | yes |
| GO:0010324 | membrane invagination | 25.0000 | 5 | yes |
| GO:0015698 | inorganic anion transport | 25.0000 | 4 | yes |
| GO:0032535 | regulation of cellular component size | 25.0000 | 4 | yes |
| GO:0035249 | synaptic transmission, glutamatergic | 25.0000 | 8 | yes |
| GO:0045794 | negative regulation of cell volume | 25.0000 | 4 | yes |
| GO:0048388 | endosomal lumen acidification | 25.0000 | 5 | yes |
| GO:0051452 | intracellular pH reduction | 25.0000 | 4 | yes |
| GO:0051932 | synaptic transmission, GABAergic | 25.0000 | 8 | yes |
| GO:0097401 | synaptic vesicle lumen acidification | 25.0000 | 4 | yes |
| GO:0098655 | monoatomic cation transmembrane transport | 25.0000 | 4 | yes |
| GO:0098656 | monoatomic anion transmembrane transport | 25.0000 | 4 | yes |
| GO:0098661 | inorganic anion transmembrane transport | 25.0000 | 4 | yes |
| GO:0098662 | inorganic cation transmembrane transport | 25.0000 | 4 | yes |
| GO:0098916 | anterograde trans-synaptic signaling | 25.0000 | 6 | yes |
| GO:0099024 | plasma membrane invagination | 25.0000 | 6 | yes |
| GO:0099536 | synaptic signaling | 25.0000 | 4 | yes |
| GO:0099537 | trans-synaptic signaling | 25.0000 | 5 | yes |
| GO:1902476 | chloride transmembrane transport | 25.0000 | 5 | yes |
| GO:1902600 | proton transmembrane transport | 25.0000 | 5 | 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) |
|---|---|---|---|---|
| CLCN3_HUMAN | [view entry] [view interactions] | Low throughput | yes | yes |
| NHRF3_HUMAN | [view interactions] | Low throughput | no | no |
| 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 |
| 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 |
| 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 |
| TRI67_HUMAN | [view interactions] | High throughput | no | no |
| CBL_HUMAN | [view interactions] | High throughput | no | yes |
| DNJC5_HUMAN | [view interactions] | High throughput | no | yes |