| Gene Symbol |
DFNA5
|
| Entrez Gene |
1687
|
| Alt Symbol |
ICERE-1
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
deafness, autosomal dominant 5
|
| Other Description |
inversely correlated with estrogen receptor expression 1|non-syndromic hearing impairment protein 5|nonsyndromic hearing impairment protein
|
| Swissprots |
Q08AQ8 O14590 A4D156 Q9UBV3 B3KT05 O60443 B2RAX9
|
| Accessions |
AAB83938 EAL24246 EAW93812 EAW93813 EAW93814 O60443 AF007790 AAC39635 AF073308 AAC69324 AF075171 AAC69326 AF131765 AAD20039 AJ270686 AK094714 BAG52917 AK290775 BAF83464 AK314402 BAG37026 BC019689 BC099911 AAH99911 BC125065 AAI25066 BC125066 AAI25067 BX647389 DA197867 DA820184 DA908548 NM_001127453 NP_001120925 NM_001127454 NP_001120926 NM_004403 NP_004394
|
| Function |
Involved in apoptosis and cell survival. Plays a role in the TP53-regulated cellular response to DNA damage probably by cooperating with TP53. {ECO:0000269|PubMed:16897187, ECO:0000269|PubMed:18223688, ECO:0000269|PubMed:21522185}.
|
| Tissue Specificity |
Expressed in cochlea. Low level of expression in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas, with highest expression in placenta.
|