| Tdark | SLIT-ROBO Rho GTPase-activating protein 2B |
May regulate cell migration and differentiation through interaction with and inhibition of SRGAP2.
This locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. This human-specific locus resulted from incomplete segmental duplication of the SLIT-ROBO Rho GTPase activating protein 2 locus. The encoded protein lacks the GTPase activating protein domain compared to proteins encoded by SLIT-ROBO Rho GTPase activating protein 2. The functionality of the protein encoded by this locus has been questioned, as several normal individuals with homozygous deletions for this locus have been identified, and the expression of this locus appears to be much lower than the similar SLIT-ROBO Rho GTPase activating protein 2C (SRGAP2C) locus. The SRGAP2C locus has been shown to encode a protein that functions antagonistically to SLIT-ROBO Rho GTPase activating protein 2 in cortical neuron development. [provided by RefSeq, Dec 2012]
This locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. This human-specific locus resulted from incomplete segmental duplication of the SLIT-ROBO Rho GTPase activating protein 2 locus. The encoded protein lacks the GTPase activating protein domain compared to proteins encoded by SLIT-ROBO Rho GTPase activating protein 2. The functionality of the protein encoded by this locus has been questioned, as several normal individuals with homozygous deletions for this locus have been identified, and the expression of this locus appears to be much lower than the similar SLIT-ROBO Rho GTPase activating protein 2C (SRGAP2C) locus. The SRGAP2C locus has been shown to encode a protein that functions antagonistically to SLIT-ROBO Rho GTPase activating protein 2 in cortical neuron development. [provided by RefSeq, Dec 2012]
Comments
| Disease | Target Count | P-value |
|---|---|---|
| lung adenocarcinoma | 2714 | 1.6e-17 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Intellectual disability | 573 | 3.668 | 1.8 |
| 3p- syndrome | 21 | 3.565 | 1.8 |
| Chondrosarcoma | 24 | 3.057 | 1.5 |
MTSPAKFKKDKEIIAEYDTQVKEIRAQLTEQMKCLDQQCELRVQLLQDLQDFFRKKAEIEMDYSRNLEKL 1 - 70 AERFLAKTCSTKDQQFKKDQNVLSPVNCWNLLLNQVKRESRDHTTLSDIYLNNIIPRFVQVSEDSGRLFK 71 - 140 KSKEVGQQLQDDLMKVLNELYSVMKTYHMYNADSISAQSKLKEAEKQEEKQIGKSVKQEDRQTPRSPDST 141 - 210 ANVRIEEKHVRRSSVKKIEKMKEKRQAKYTENKLKAIKARNEYLLALEATNASVFKYYIHDLSDLIDCCD 211 - 280 LGYHASLNRALRTFLSAELNLEQSKHEGLDAIENAVENLDATSDKQRLMEMYNNVFCPPMKFEFQPHMGD 281 - 350 MASQLCAQQPVQSELLQRCQQLQSRLSTLKIENEEVKKTMEATLQTIQDIVTVEDFDVSDCFQYSNSMES 351 - 420 VKSTVSETFMSKPSIAKRRANQQETEQFYFTVRECYGF 421 - 458 //
| PMID | Year | Title | |
|---|---|---|---|
| 22559944 | 2012 | Inhibition of SRGAP2 function by its human-specific paralogs induces neoteny during spine maturation. | |
| 22559943 | 2012 | Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication. | |
| 16710414 | 2006 | The DNA sequence and biological annotation of human chromosome 1. | |
| 12477932 | 2002 | Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |
