| Gene Symbol |
CIB2
|
| Entrez Gene |
10518
|
| Alt Symbol |
DFNB48, KIP2, USH1J
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
calcium and integrin binding family member 2
|
| Other Description |
DNA-dependent protein kinase catalytic subunit-interacting protein 2|calcium and integrin-binding family member 2
|
| Swissprots |
H0YM71 B4DDF0 Q05BT6 O75838
|
| Accessions |
EAW99183 EAW99184 EAW99185 EAW99186 O75838 AA731290 AB012955 BAA33584 AI817087 AI857912 AK293167 BAG56711 AL110098 BC033108 AAH33108 BC047381 AAH47381 BC057292 BE042882 BE907622 BI523557 BM908035 BQ681471 BT019962 AAV38765 BU556614 CN371149 CN371150 HQ447978 ADQ32461 XM_005254126 XP_005254183 XM_006720374 XP_006720437 XM_011521161 XP_011519463 NM_001271888 NP_001258817 NM_001271889 NP_001258818 NM_001301224 NP_001288153 NM_006383 NP_006374 NR_125435
|
| Function |
Calcium-binding protein critical for proper photoreceptor cell maintenance and function. May play a role in calcium homeostasis and participate in calcium regulation in the mechanotransduction process (By similarity). {ECO:0000250}.
|
| Subcellular Location |
Photoreceptor inner segment {ECO:0000250}. Cell membrane, sarcolemma {ECO:0000250}. Note=Expressed in inner and outer segments of photoreceptor cells, as well as in the pigmented epithelium. Also observed in the inner and outer plexiform layers and in the ganglion cell layer. Colocalized with ITGA7 at the myotendinous junctions (MTJ) and at the neuromuscular junctions (NMJ) (By similarity). {ECO:0000250}.
|
| Tissue Specificity |
Ubiquitous.
|
