Official symbol | CIB2 |
Gene id | 10518 |
Organism | Homo sapiens |
Official full symbol | calcium and integrin binding family member 2 |
Gene type | protein-coding |
Also known as | DFNB48, KIP2, USH1J |
Summary | The protein encoded by this gene is similar to that of KIP/CIB, calcineurin B, and calmodulin. The encoded protein is a calcium-binding regulatory protein that interacts with DNA-dependent protein kinase catalytic subunits (DNA-PKcs), and it is involved in photoreceptor cell maintenance. Mutations in this gene cause deafness, autosomal recessive, 48 (DFNB48), and also Usher syndrome 1J (USH1J). Alternative splicing results in multiple transcript variants. |
Genomic regions | Chromosome 15 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
CIB2-202 | ENST00000539011.5 | 1511 | 144aa | Protein coding | CCDS61722 | O75838-3 | - | TSL:1, GENCODE basic, |
CIB2-201 | ENST00000258930.8 | 1499 | 187aa | Protein coding | CCDS10296 | O75838-1 | NM_006383.4 | TSL:1, GENCODE basic, APPRIS P1, MANE Select v0.92, |
CIB2-204 | ENST00000557846.5 | 934 | 138aa | Protein coding | CCDS61723 | O75838-4 | - | TSL:3, GENCODE basic, |
CIB2-208 | ENST00000560618.5 | 804 | 167aa | Protein coding | - | H0YKC8 | - | TSL:2, GENCODE basic, |
CIB2-207 | ENST00000559645.1 | 462 | 147aa | Protein coding | - | H0YKX8 | - | CDS 3' incomplete, TSL:3, |
CIB2-206 | ENST00000559054.1 | 443 | 54aa | Protein coding | - | H0YLX3 | - | CDS 3' incomplete, TSL:2, |
CIB2-209 | ENST00000561190.5 | 390 | 126aa | Protein coding | - | H0YLL7 | - | CDS 3' incomplete, TSL:3, |
CIB2-210 | ENST00000643268.1 | 744 | 63aa | Nonsense mediated decay | - | A0A2R8Y4Y2 | - | CDS 5' incomplete, |
CIB2-203 | ENST00000557818.1 | 669 | 48aa | Nonsense mediated decay | - | H0YML3 | - | CDS 5' incomplete, TSL:3, |
CIB2-205 | ENST00000557917.5 | 535 | 92aa | Nonsense mediated decay | - | H0YND4 | - | TSL:5, |
Target Gene | CIB2 |
This KO Strategy | loading |
Red Cotton™ Notes | Gene CIB2 had been KO in hek293t cell line. |
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