| Tdark | ELMO domain-containing protein 3 |
Acts as a GTPase-activating protein (GAP) for ARL2 with low specific activity.
This gene encodes a member of the engulfment and cell motility family of GTPase-activating proteins that regulate Arf GTPase proteins. Members of this family are defined by a conserved engulfment and cell motility domain. In rat cochlea, the encoded protein is found in stereocilia, kinocilia and cuticular plate of developing hair cells suggesting a function for this protein in cochlear sensory cells. An allelic variant of this family has been associated with autosomal recessive nonsyndromic deafness-88 in humans. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]
This gene encodes a member of the engulfment and cell motility family of GTPase-activating proteins that regulate Arf GTPase proteins. Members of this family are defined by a conserved engulfment and cell motility domain. In rat cochlea, the encoded protein is found in stereocilia, kinocilia and cuticular plate of developing hair cells suggesting a function for this protein in cochlear sensory cells. An allelic variant of this family has been associated with autosomal recessive nonsyndromic deafness-88 in humans. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| DEAFNESS, AUTOSOMAL RECESSIVE 88 | 1 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| ductal carcinoma in situ | 1745 | 1.4e-03 |
| invasive ductal carcinoma | 2951 | 6.6e-03 |
| breast carcinoma | 1638 | 8.5e-03 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Nonsyndromic deafness | 142 | 3.18 | 1.6 |
| Disease | log2 FC | p |
|---|---|---|
| breast carcinoma | -1.100 | 8.5e-03 |
| ductal carcinoma in situ | -1.800 | 1.4e-03 |
| invasive ductal carcinoma | -2.000 | 6.6e-03 |
MNEKSCSFHSKEELRDGQGERLSAGYSPSYDKDKSVLAFRGIPISELKNHGILQALTTEAYEWEPRVVST 1 - 70 EVVRAQEEWEAVDTIQPETGSQASSEQPGQLISFSEALQHFQTVDLSPFKKRIQPTIRRTGLAALRHYLF 71 - 140 GPPKLHQRLREERDLVLTIAQCGLDSQDPVHGRVLQTIYKKLTGSKFDCALHGNHWEDLGFQGANPATDL 141 - 210 RGAGFLALLHLLYLVMDSKTLPMAQEIFRLSRHHIQQFPFCLMSVNITHIAIQALREECLSRECNRQQKV 211 - 280 IPVVNSFYAATFLHLAHVWRTQRKTISDSGFVLKELEVLAKKSPRRLLKTLELYLARVSKGQASLLGAQK 281 - 350 CYGPEAPPFKDLTFTGESDLQSHSSEGVWLI 351 - 381 //
