O15247
PR
Gene name |
CLIC2 |
Protein name |
Chloride intracellular channel protein 2 |
Names |
XAP121 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1193 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
4 structures for O15247
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2PER | X-ray | 200 A | A | 1-247 | PDB |
| 2R4V | X-ray | 185 A | A | 1-247 | PDB |
| 2R5G | X-ray | 186 A | A | 1-247 | PDB |
| AF-O15247-F1 | Predicted | AlphaFoldDB |
105 variants for O15247
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA414933945 rs1446453794 RCV001330550 |
35 | R>C | X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
VAR_068898 RCV000033043 rs398122917 CA130595 RCV002247413 |
101 | H>Q | X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome MRXS32; results in stimulation of RYR channels activity with channels remaining open for longer times; the mutation may impair insertion of the protein into the membrane to form a functioning ion channel [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs782577136 CA414923697 |
3 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414923702 rs1557323111 |
3 | G>S | No |
ClinGen gnomAD |
|
|
rs782577136 CA10569395 |
3 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414923678 rs1557323108 |
5 | R>Q | No |
ClinGen gnomAD |
|
|
CA10569394 rs191446056 |
5 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782288621 CA10569393 |
6 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1557323102 CA414923657 |
7 | G>D | No |
ClinGen gnomAD |
|
|
CA10569391 rs782061657 COSM3844158 |
7 | G>S | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA10569390 rs781820054 |
9 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
COSM1118371 rs1049847115 CA337243175 |
10 | V>L | liver endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA414923611 rs1334407663 |
11 | D>N | No |
ClinGen TOPMed |
|
|
rs201740383 CA337243160 |
14 | I>M | No |
ClinGen Ensembl |
|
| TCGA novel | 14 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1602940915 CA414934045 RCV000996083 |
21 | G>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1557318714 CA414934043 |
22 | S>G | No |
ClinGen gnomAD |
|
|
rs1557318713 CA414934016 |
25 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 29 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA337232581 rs934176781 |
35 | R>H | No |
ClinGen gnomAD |
|
|
CA414933929 rs1569561300 |
37 | F>L | No |
ClinGen Ensembl |
|
|
rs1602940878 CA414933926 |
38 | M>L | No |
ClinGen Ensembl |
|
| TCGA novel | 40 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414933903 rs1557318707 |
41 | W>S | No |
ClinGen gnomAD |
|
|
CA10569366 rs782520088 |
45 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA10569365 rs781828011 |
48 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA414933824 rs1244029918 |
53 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1557318703 CA414933800 |
56 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 57 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10569353 rs148449003 |
58 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA414933729 rs1274331510 |
64 | L>* | No |
ClinGen TOPMed |
|
|
CA10569352 rs782684604 |
65 | A>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 70 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1466975 CA10569350 rs782270791 |
71 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA414933683 rs1557318651 |
72 | F>L | No |
ClinGen gnomAD |
|
|
CA414933678 rs1286501692 |
72 | F>L | No |
ClinGen TOPMed |
|
|
CA10569348 rs201668560 |
74 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs781800421 CA10569347 |
80 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA10569346 rs782667135 |
81 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557318647 CA414933615 |
82 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 83 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10569345 rs782548834 |
87 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1474073719 CA414933546 |
90 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 93 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781838316 CA10569341 |
95 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414933516 rs1189858888 |
95 | A>S | No |
ClinGen TOPMed |
|
| TCGA novel | 96 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1453048668 CA414933500 |
98 | R>G | No |
ClinGen TOPMed |
|
|
CA10569340 rs782688201 |
98 | R>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 98 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10569323 rs782809067 |
100 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 102 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1415755874 CA414932739 |
103 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA414932710 rs1557316259 |
105 | K>E | No |
ClinGen gnomAD |
|
|
CA414932620 rs1313129144 |
108 | E>* | No |
ClinGen TOPMed |
|
|
rs782784956 CA10569321 |
111 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1290722511 CA414932472 |
115 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs782705406 CA10569318 |
118 | A>T | No |
ClinGen ExAC |
|
|
CA414932289 rs1557316252 |
122 | A>T | No |
ClinGen gnomAD |
|
|
CA414932146 rs1557316247 |
128 | Q>E | No |
ClinGen gnomAD |
|
|
CA10569317 rs782137312 |
129 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs149301253 CA10569316 |
130 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782547045 CA337225109 |
131 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs782374386 CA10569315 |
132 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1118355 CA414931797 rs1326420135 |
145 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs782037891 COSM1118353 CA10569307 |
145 | R>H | lung Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA414931700 rs1557316156 |
152 | T>A | No |
ClinGen gnomAD |
|
|
CA414931696 rs1260930011 |
152 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1557316154 CA414931685 |
153 | P>L | No |
ClinGen gnomAD |
|
|
rs201129114 CA10569304 |
156 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10569303 rs781826424 |
158 | I>M | No |
ClinGen ExAC gnomAD |
|
|
RCV000178840 RCV000424318 rs41304992 CA203044 |
160 | P>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA337224672 rs1765761 |
161 | D>H | No |
ClinGen Ensembl |
|
|
CA414931581 rs1557316149 |
161 | D>V | No |
ClinGen gnomAD |
|
|
CA337224658 rs1765761 |
161 | D>Y | No |
ClinGen Ensembl |
|
|
rs1475751314 CA414931511 |
165 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1182037028 CA414931505 |
166 | P>H | No |
ClinGen TOPMed |
|
|
CA10569301 rs184272852 |
168 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782369666 CA10569300 |
170 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10569299 rs782106752 |
172 | L>V | No |
ClinGen ExAC gnomAD |
|
|
COSM3424639 CA10569298 rs781997025 |
173 | F>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA414931338 rs1159998153 |
178 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 187 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557316126 CA414931180 |
190 | L>Q | No |
ClinGen gnomAD |
|
|
rs782185443 CA10569281 |
197 | A>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 197 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 198 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM25491 rs5940668 CA10569279 |
201 | R>C | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs5940668 CA414930936 |
201 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 212 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557315963 CA414930782 |
212 | V>I | No |
ClinGen gnomAD |
|
|
rs1032630286 COSM1118349 CA337223933 |
214 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs371783596 CA414930648 |
221 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10569274 rs371783596 |
221 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs781834641 CA10569275 |
221 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA10569273 rs781848928 COSM1466971 |
222 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA10569272 rs781890715 COSM32439 |
222 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 224 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782118673 CA10569270 |
227 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs781925050 CA10569266 |
240 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1193837991 CA414930230 |
240 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 242 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557315950 CA414930169 |
243 | A>V | No |
ClinGen gnomAD |
|
|
rs1260657594 CA414930163 |
244 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA414930060 rs1427090057 |
247 | S>N | No |
ClinGen TOPMed |
1 associated diseases with O15247
[MIM: 300886]: Intellectual developmental disorder, X-linked, syndromic 32 (MRXS32)
A syndrome characterized by profound intellectual deficit, delayed psychomotor development beginning in infancy and little or no speech development. Additional features include seizures, large joint contractures, and abnormal positioning of the thumbs. {ECO:0000269|PubMed:22814392}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A syndrome characterized by profound intellectual deficit, delayed psychomotor development beginning in infancy and little or no speech development. Additional features include seizures, large joint contractures, and abnormal positioning of the thumbs. {ECO:0000269|PubMed:22814392}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| chloride channel complex | An ion channel complex through which chloride ions pass. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| chloride channel activity | Enables the facilitated diffusion of a chloride (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. |
| glutathione peroxidase activity | Catalysis of the reaction: 2 glutathione + hydrogen peroxide = oxidized glutathione + 2 H2O. |
| voltage-gated ion channel activity | Enables the transmembrane transfer of an ion by a voltage-gated channel. An ion is an atom or group of atoms carrying an electric charge by virtue of having gained or lost one or more electrons. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| chloride transport | The directed movement of chloride into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| negative regulation of ryanodine-sensitive calcium-release channel activity | Any process that decreases the activity of a ryanodine-sensitive calcium-release channel. The ryanodine-sensitive calcium-release channel catalyzes the transmembrane transfer of a calcium ion by a channel that opens when a ryanodine class ligand has been bound by the channel complex or one of its constituent parts. |
| positive regulation of binding | Any process that activates or increases the rate or extent of binding, the selective interaction of a molecule with one or more specific sites on another molecule. |
| regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion | Any process that modulates the frequency, rate or extent of cardiac muscle contraction via the regulation of the release of sequestered calcium ion by sarcoplasmic reticulum into cytosol. The sarcoplasmic reticulum is the endoplasmic reticulum of striated muscle, specialised for the sequestration of calcium ions that are released upon receipt of a signal relayed by the T tubules from the neuromuscular junction. |
| regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum | Any process that modulates the rate, frequency or extent of release of sequestered calcium ion into cytosol by the sarcoplasmic reticulum, the process in which the release of sequestered calcium ion by sarcoplasmic reticulum into cytosol occurs via calcium release channels. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSGLRPGTQV | DPEIELFVKA | GSDGESIGNC | PFCQRLFMIL | WLKGVKFNVT | TVDMTRKPEE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LKDLAPGTNP | PFLVYNKELK | TDFIKIEEFL | EQTLAPPRYP | HLSPKYKESF | DVGCNLFAKF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SAYIKNTQKE | ANKNFEKSLL | KEFKRLDDYL | NTPLLDEIDP | DSAEEPPVSR | RLFLDGDQLT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LADCSLLPKL | NIIKVAAKKY | RDFDIPAEFS | GVWRYLHNAY | AREEFTHTCP | EDKEIENTYA |
| NVAKQKS |