SLIT-ROBO Rho GTPase-activating protein 2C; SLIT-ROBO Rho GTPase activating protein 2 pseudogene 1 (SRGAP2C, SRGAP2P1)

Function

• role in dendritic spine maturation through interaction with & inhibition of SRGAP2
• reduces rate of spine maturation & indirectly increases neuronal migration
• changes dendritic spine morphology & density & may have implications for cognition, learning & memory
• interacts with SRGAP2; formation of the heterodimer alters SRGAP2 function

Structure

• homodimer
• contains 1 FCH domain

Expression

• ubiquitously expressed
• higher expression in cerebellum
• probably expressed in fetal & adult neurons (at protein level)

Genetics

• one of the 3 duplications of the ancestral gene SRGAP2 which has undergone human-specific segmental gene duplications
• SRGAP2C is the only one to be fixed at a diploid state in the human genome
• SRGAP2C is functional, interacts with & inhibits SRGAP2 & is human-specific.
• the appearance of SRGAP2C in the human genome is estimated to 2,4 million years ago, corresponding to the beginning of neocortex expansion in human evolution
• there are 2 other incomplete copies of SRGAP2 depending on individuals but SRGAP2C is the only one to be fixed at a diploid state in the genome & to exhibit strong mRNA expression

More general terms

• rho GTPase-activating protein (rho-GAP)
• evolutionary divergent human protein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=653464
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:653464
• OMIM: https://mirror.omim.org/entry/614704
• UniProt: http://www.uniprot.org/uniprot/P0DJJ0.html