RBCC Red Blood Cell Collection

RBGPR_HUMAN

Source: PM19886704
PM23856902
PM22954596
Marked as 'Non-membrane protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)
Gene names: RAB3GAP2 , KIAA0839
Protein names and data: RBGPR_HUMAN , Rab3 GTPase-activating protein non-catalytic subunit , RGAP-iso; Rab3 GTPase-activating protein 150 kDa subunit; Rab3-GAP p150; Rab3-GAP150; Rab3-GAP regulatory subunit Lenght: 1393 a.a.
Mass: 155985 Da
fasta formatted sequence
Function: Regulatory subunit of a GTPase activating protein that has specificity for Rab3 subfamily (RAB3A, RAB3B, RAB3C and RAB3D). Rab3 proteins are involved in regulated exocytosis of neurotransmitters and hormones. Rab3 GTPase-activating complex specifically converts active Rab3-GTP to the inactive form Rab3- GDP. Required for normal eye and brain development. May participate in neurodevelopmental processes such as proliferation, migration and differentiation before synapse formation, and non- synaptic vesicular release of neurotransmitters.
Disease: ( OMIM: 212720 609275 614225 ) Martsolf syndrome (MARTS) [MIM:212720]: Characterized by congenital cataracts, mental retardation, and hypogonadism. Inheritance is autosomal recessive. Note=The disease is caused by mutations affecting the gene represented in this entry. Warburg micro syndrome 2 (WARBM2) [MIM:614225]: A rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm. Note=In neurons, it is enriched in the synaptic soluble fraction.
Tissue specificity: Ubiquitous.

Genetic variants

167 - 169 Missing (in WARBM2). VAR_066675
863 - 863 T -> A (in dbSNP:rs12045447). VAR_021588 12045447
1052 - 1052 G -> C (in MARTS; may cause exon skipping). VAR_029881
1092 - 1092 S -> T (in dbSNP:rs2289189). VAR_021589 2289189

Database cross-references

UniProt: Q9H2M9
Ensembl: ENST00000358951
MIM: 212720
MIM: 609275
MIM: 614225
neXtProt: NX_Q9H2M9
Antibodypedia: Q9H2M9 (may not find the protein thus also not any antibody)
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