Official symbol | CLCN7 |
Gene id | 1186 |
Organism | Homo sapiens |
Official full symbol | chloride voltage-gated channel 7 |
Gene type | protein-coding |
Also known as | CLC-7, CLC7, HOD, OPTA2, OPTB4, PPP1R63 |
Summary | The product of this gene belongs to the CLC chloride channel family of proteins. Chloride channels play important roles in the plasma membrane and in intracellular organelles. This gene encodes chloride channel 7. Defects in this gene are the cause of osteopetrosis autosomal recessive type 4 (OPTB4), also called infantile malignant osteopetrosis type 2 as well as the cause of autosomal dominant osteopetrosis type 2 (OPTA2), also called autosomal dominant Albers-Schonberg disease or marble disease autosoml dominant. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. |
Genomic regions | Chromosome 16 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
CLCN7-202 | ENST00000382745.9 | 4168 | 805aa | Protein coding | CCDS32361 | P51798-1 | NM_001287.6 | TSL:1, GENCODE basic, APPRIS P2, MANE Select v0.92, |
CLCN7-203 | ENST00000448525.5 | 4151 | 781aa | Protein coding | CCDS45378 | P51798-2 | - | TSL:2, GENCODE basic, APPRIS ALT2, |
CLCN7-201 | ENST00000262318.12 | 3717 | 901aa | Protein coding | - | H0Y2M6 | - | TSL:5, GENCODE basic, |
CLCN7-214 | ENST00000569851.6 | 1014 | 216aa | Protein coding | - | I3L470 | - | CDS 3' incomplete, TSL:5, |
CLCN7-207 | ENST00000564568.1 | 533 | 118aa | Protein coding | - | H3BNG8 | - | CDS 3' incomplete, TSL:4, |
CLCN7-210 | ENST00000566812.1 | 434 | No protein | Processed transcript | - | - | - | TSL:4, |
CLCN7-205 | ENST00000563642.6 | 4184 | No protein | Retained intron | - | - | - | TSL:2, |
CLCN7-209 | ENST00000565092.6 | 2740 | No protein | Retained intron | - | - | - | TSL:2, |
CLCN7-206 | ENST00000563822.1 | 851 | No protein | Retained intron | - | - | - | TSL:5, |
CLCN7-208 | ENST00000564968.1 | 652 | No protein | Retained intron | - | - | - | TSL:4, |
CLCN7-213 | ENST00000567836.2 | 647 | No protein | Retained intron | - | - | - | TSL:2, |
CLCN7-211 | ENST00000567139.1 | 581 | No protein | Retained intron | - | - | - | TSL:2, |
CLCN7-212 | ENST00000567789.1 | 577 | No protein | Retained intron | - | - | - | TSL:2, |
CLCN7-204 | ENST00000561665.5 | 561 | No protein | Retained intron | - | - | - | TSL:4, |
Target Gene | CLCN7 |
This KO Strategy | loading |
Red Cotton™ Notes | Gene CLCN7 had been KO in hela cell line. |
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