GJA8 - gap junction protein alpha 8 Gene
Also Known as CAE; CAE1; CX50; CZP1; MP70; CTRCT1
Species: Homo sapiens
About GJA8
This gene has 1 transcript (splice variant), 215 orthologues, 20 paralogues and is associated with 11 phenotypes. Restricted expression toward testis (RPKM 2.4).
Summary
This gene encodes a transmembrane connexin protein that is necessary for lens growth and maturation of lens fiber cells. The encoded protein is a component of gap junction channels and functions in a calcium and pH-dependent manner. Mutations in this gene have been associated with zonular pulverulent cataracts, nuclear progressive cataracts, and cataract-microcornea syndrome. [provided by RefSeq, Dec 2009]
GJA8 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_005267.5 | NP_005258.2 | gap junction alpha-8 protein |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables gap junction channel activity |
IDA
IDA: Inferred from direct assay
|
19756179 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
32296183 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in gap junction-mediated intercellular transport |
IDA
IDA: Inferred from direct assay
|
19756179 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of connexin complex |
IDA
IDA: Inferred from direct assay
|
19756179 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
19756179 | GOA |
GJA8 Protein Structure
Connexin: Connexin (3 - 107)
(161 - 227)
Connexin50: Gap junction alpha-8 protein (Cx50) (260 - 326)
- 0
- 100
- 200
- 300
- 400
- 433 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
gap junction alpha-8 protein |
|
GJA8 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
GJA8 | P48165 | AQP4 | Homo sapiens | P55087 | 32296183 | |
|
Intra
|
GJA8 | P48165 | PTPRN | Homo sapiens | Q16849-3 | 32296183 | |
|
Intra
|
GJA8 | P48165 | TTMP | Homo sapiens | Q5BVD1 | 32296183 | |
|
Intra
|
GJA8 | P48165 | DEFB121 | Homo sapiens | Q5J5C9 | 32296183 | |
|
Intra
|
GJA8 | P48165 | TMEM182 | Homo sapiens | Q6ZP80 | 32296183 | |
|
Intra
|
GJA8 | P48165 | SLC30A3 | Homo sapiens | Q99726 | 32296183 | |
|
Intra
|
GJA8 | P48165 | SEC22C | Homo sapiens | Q9BRL7 | 32296183 | |
|
Intra
|
GJA8 | P48165 | TWSG1 | Homo sapiens | Q9GZX9 | 32296183 | |
|
Intra
|
GJA8 | P48165 | SLC38A7 | Homo sapiens | Q9NVC3 | 32296183 | |
|
Intra
|
GJA8 | P48165 | TMEM242 | Homo sapiens | Q9NWH2 | 32296183 | |
|
Intra
|
GJA8 | P48165 | MARCHF2 | Homo sapiens | Q9P0N8 | 32296183 | |
|
Intra
|
GJA8 | P48165 | TMBIM6 | Homo sapiens | P55061 | 32296183 | |
|
Intra
|
GJA8 | P48165 | SLC39A7 | Homo sapiens | Q92504 | 32296183 | |
|
Intra
|
GJA8 | P48165 | TMEM128 | Homo sapiens | Q5BJH2-2 | 32296183 | |
|
Intra
|
GJA8 | P48165 | TMEM45A | Homo sapiens | Q9NWC5 | 32296183 | |
|
Intra
|
GJA8 | P48165 | ERMP1 | Homo sapiens | Q7Z2K6 | 32296183 | |
|
Intra
|
GJA8 | P48165 | ORMDL2 | Homo sapiens | Q53FV1 | 32296183 | |
|
Intra
|
GJA8 | P48165 | MGST2 | Homo sapiens | Q99735 | 32296183 | |
|
Intra
|
GJA8 | P48165 | GPR108 | Homo sapiens | Q9NPR9 | 32296183 | |
|
Intra
|
GJA8 | P48165 | GPR108 | Homo sapiens | Q9NPR9 | 32296183 | |
|
Intra
|
GJA8 | P48165 | TMEM239 | Homo sapiens | Q8WW34-2 | 32296183 | |
|
Intra
|
GJA8 | P48165 | GPR151 | Homo sapiens | Q8TDV0 | 32296183 | |
|
Intra
|
GJA8 | P48165 | GIMAP1 | Homo sapiens | Q8WWP7 | 32296183 | |
|
Intra
|
GJA8 | P48165 | CLEC1A | Homo sapiens | Q8NC01 | 32296183 | |
|
Intra
|
GJA8 | P48165 | SLC13A5 | Homo sapiens | Q86YT5 | 32296183 | |
|
Intra
|
GJA8 | P48165 | CTXN3 | Homo sapiens | Q4LDR2 | 32296183 | |
|
Intra
|
GJA8 | P48165 | TMEM42 | Homo sapiens | Q69YG0 | 32296183 | |
|
Intra
|
GJA8 | P48165 | TSPAN33 | Homo sapiens | Q86UF1 | 32296183 | |
|
Intra
|
GJA8 | P48165 | SCARF1 | Homo sapiens | Q14162 | 32296183 | |
|
Intra
|
GJA8 | P48165 | MS4A13 | Homo sapiens | Q5J8X5 | 32296183 | |
|
Intra
|
GJA8 | P48165 | PGAP2 | Homo sapiens | Q9UHJ9-5 | 32296183 | |
|
Intra
|
GJA8 | P48165 | TMEM121 | Homo sapiens | Q9BTD3 | 32296183 | |
|
Intra
|
GJA8 | P48165 | SLC16A13 | Homo sapiens | Q7RTY0 | 32296183 | |
|
Intra
|
GJA8 | P48165 | GUCA2A | Homo sapiens | Q02747 | 32296183 | |
|
Intra
|
GJA8 | P48165 | CLDN19 | Homo sapiens | Q8N6F1-2 | 32296183 | |
|
Intra
|
GJA8 | P48165 | SLC35A4 | Homo sapiens | Q96G79 | 32296183 | |
|
Intra
|
GJA8 | P48165 | GPR61 | Homo sapiens | Q9BZJ8 | 32296183 | |
|
Intra
|
GJA8 | P48165 | QRFPR | Homo sapiens | Q96P65 | 32296183 | |
|
Intra
|
GJA8 | P48165 | TMEM107 | Homo sapiens | Q6UX40 | 32296183 | |
|
Intra
|
GJA8 | P48165 | TMEM243 | Homo sapiens | Q9BU79 | 32296183 | |
|
Intra
|
GJA8 | P48165 | SLC66A1 | Homo sapiens | Q6ZP29-3 | 32296183 | |
|
Intra
|
GJA8 | P48165 | SLC39A2 | Homo sapiens | Q9NP94 | 32296183 | |
|
Intra
|
GJA8 | P48165 | PROKR2 | Homo sapiens | Q8NFJ6 | 32296183 | |
|
Intra
|
GJA8 | P48165 | SLC52A1 | Homo sapiens | Q9NWF4 | 32296183 | |
|
Intra
|
GJA8 | P48165 | UNC93A | Homo sapiens | Q86WB7-2 | 32296183 | |
|
Intra
|
GJA8 | P48165 | SLC35F1 | Homo sapiens | Q5T1Q4 | 32296183 | |
|
Intra
|
GJA8 | P48165 | REEP6 | Homo sapiens | Q96HR9-2 | 32296183 | |
|
Intra
|
GJA8 | P48165 | P2RY13 | Homo sapiens | Q9BPV8 | 32296183 | |
|
Intra
|
GJA8 | P48165 | P2RY13 | Homo sapiens | Q9BPV8 | 32296183 | |
|
Intra
|
GJA8 | P48165 | SLC38A4 | Homo sapiens | Q969I6 | 32296183 | |
|
Intra
|
GJA8 | P48165 | SLC8A3 | Homo sapiens | P57103-7 | 32296183 | |
|
Intra
|
GJA8 | P48165 | SLC13A2 | Homo sapiens | Q13183 | 32296183 | |
|
Intra
|
GJA8 | P48165 | SLC16A12 | Homo sapiens | Q6ZSM3 | 32296183 | |
|
Intra
|
GJA8 | P48165 | CYP4F2 | Homo sapiens | P78329 | 32296183 | |
|
Intra
|
GJA8 | P48165 | RNF152 | Homo sapiens | Q8N8N0 | 32296183 | |
|
Intra
|
GJA8 | P48165 | TMEM86B | Homo sapiens | Q8N661 | 32296183 | |
|
Intra
|
GJA8 | P48165 | S1PR5 | Homo sapiens | Q9H228 | 32296183 | |
|
Intra
|
GJA8 | P48165 | CYBC1 | Homo sapiens | Q9BQA9 | 32296183 | |
|
Intra
|
GJA8 | P48165 | ARL6IP6 | Homo sapiens | Q8N6S5 | 32296183 | |
|
Intra
|
GJA8 | P48165 | LHFPL5 | Homo sapiens | Q8TAF8 | 32296183 | |
|
Intra
|
GJA8 | P48165 | SLC39A9 | Homo sapiens | Q9NUM3 | 32296183 | |
|
Intra
|
GJA8 | P48165 | COX20 | Homo sapiens | Q5RI15 | 32296183 | |
|
Intra
|
GJA8 | P48165 | PMP22 | Homo sapiens | Q01453 | 32296183 | |
|
Intra
|
GJA8 | P48165 | TMEM60 | Homo sapiens | Q9H2L4 | 32296183 | |
|
Intra
|
GJA8 | P48165 | MFSD6 | Homo sapiens | Q6ZSS7 | 32296183 | |
|
Intra
|
GJA8 | P48165 | LAPTM4B | Homo sapiens | Q86VI4 | 32296183 | |
|
Intra
|
GJA8 | P48165 | TMEM147 | Homo sapiens | Q9BVK8 | 32296183 | |
|
Intra
|
GJA8 | P48165 | ATP6V0B | Homo sapiens | Q99437 | 32296183 | |
|
Intra
|
GJA8 | P48165 | SLC66A2 | Homo sapiens | Q8N2U9 | 32296183 | |
|
Intra
|
GJA8 | P48165 | CLN6 | Homo sapiens | Q9NWW5 | 32296183 | |
|
Intra
|
GJA8 | P48165 | GIMAP5 | Homo sapiens | Q96F15 | 32296183 | |
|
Intra
|
GJA8 | P48165 | TMEM65 | Homo sapiens | Q6PI78 | 32296183 | |
|
Intra
|
GJA8 | P48165 | FXYD6 | Homo sapiens | Q9H0Q3 | 32296183 | |
|
Intra
|
GJA8 | P48165 | SLC35F6 | Homo sapiens | Q8N357 | 32296183 | |
|
Intra
|
GJA8 | P48165 | STX8 | Homo sapiens | Q9UNK0 | 32296183 | |
|
Intra
|
GJA8 | P48165 | MALL | Homo sapiens | Q13021 | 32296183 | |
|
Intra
|
GJA8 | P48165 | YIPF6 | Homo sapiens | Q96EC8 | 32296183 | |
|
Intra
|
GJA8 | P48165 | CIAO2A | Homo sapiens | Q9H5X1 | 32296183 | |
|
Intra
|
GJA8 | P48165 | OTOP2 | Homo sapiens | Q7RTS6 | 32296183 | |
|
Intra
|
GJA8 | P48165 | SEC23A | Homo sapiens | Q15436 | 32296183 | |
|
Intra
|
GJA8 | P48165 | INSIG2 | Homo sapiens | Q9Y5U4 | 32296183 | |
|
Intra
|
GJA8 | P48165 | RUSF1 | Homo sapiens | Q96GQ5 | 32296183 | |
|
Intra
|
GJA8 | P48165 | SMCO4 | Homo sapiens | Q9NRQ5 | 32296183 | |
|
Intra
|
GJA8 | P48165 | TMEM100 | Homo sapiens | Q9NV29 | 32296183 | |
|
Intra
|
GJA8 | P48165 | DOLK | Homo sapiens | Q9UPQ8 | 32296183 | |
|
Intra
|
GJA8 | P48165 | PNLIPRP1 | Homo sapiens | P54315 | 32296183 | |
|
Intra
|
GJA8 | P48165 | STX1B | Homo sapiens | P61266 | 32296183 | |
|
Intra
|
GJA8 | P48165 | CCDC167 | Homo sapiens | Q9P0B6 | 32296183 | |
|
Intra
|
GJA8 | P48165 | RXFP4 | Homo sapiens | Q8TDU9 | 32296183 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Cataract 1, Multiple Types |
|
|
| Cataract Microcornea Syndrome |
|
|
| Sclerocornea |
|
|
| Early-Onset Sutural Cataract |
|
|
| Cataract 30, Multiple Types |
|
|
| Cataract 44 |
|
|
| Early-Onset Nuclear Cataract |
|
|
| Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb |
|
|
| Cataract |
|
|
| Anterior Segment Dysgenesis |
|
|
| Anterior Segment Dysgenesis 1 |
|
|
| Cataract 9, Multiple Types |
|
|
| Cataract 14, Multiple Types |
|
|
| Oculodentodigital Dysplasia |
|
|
| Hereditary Lymphedema Ic |
|
|
| Craniometaphyseal Dysplasia, Autosomal Recessive |
|
|
| Congenital Aphakia |
|
|
| Lens Disease |
|
|
| Posterior Polar Cataract |
|
|
| Presbyopia |
|
|
| Senile Cataract |
|
|
| Nance-Horan Syndrome |
|
|
| Spinocerebellar Ataxia 14 |
|
|
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
|
| Mature Cataract |
|
|
| Erythrokeratodermia Variabilis Et Progressiva 1 |
|
|
| Eye Accommodation Disease |
|
|
| Amblyopia |
|
|
| Syndactyly, Type Iii |
|
|
| Aniridia 1 |
|
|
| Coloboma Of Optic Nerve |
|
|
| Charcot-Marie-Tooth Disease |
|
|
| Eye Disease |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | GJA8 | VGNC | VGNC:29375 |
| Macaca mulatta | GJA8 | VGNC | VGNC:73058 |
| Rattus norvegicus | GJA8 | RGD | RGD:628890 |
| Canis familiaris | GJA8 | VGNC | VGNC:41236 |
| Mus musculus | GJA8 | MGD | MGI:99953 |
| Felis catus | GJA8 | VGNC | VGNC:82433 |
| Others | GJA8 | NCBI |