| UniProt Protein Function: | RC3: May serve as a scaffold protein for MADD and RAB3GA on synaptic vesicles. 2 isoforms of the human protein are produced by alternative splicing.Protein type: Adaptor/scaffold; Vesicle; Membrane protein, peripheralChromosomal Location of Human Ortholog: 15q21.2Cellular Component: extracellular space; synaptic vesicle; synaptic vesicle membrane; cell junctionMolecular Function: Rab GTPase bindingDisease: Polyendocrine-polyneuropathy Syndrome |
| UniProt Protein Details: | |
| NCBI Summary: | This gene encodes a protein with 12 WD domains. Proteins with WD domains are involved in many functions including participation in signal transduction pathways. Participation of the encoded protein in regulation of the Notch signaling pathway has been demonstrated in vitro using several human cell lines (PMID:20810660). A gene encoding a similar protein is located on chromosome 5. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] |
| UniProt Code: | Q8TDJ6 |
| NCBI GenInfo Identifier: | 291621657 |
| NCBI Gene ID: | 23312 |
| NCBI Accession: | NP_001167587.1 |
| UniProt Secondary Accession: | Q8TDJ6 |
| UniProt Related Accession: | Q8TDJ6 |
| Molecular Weight: | 340 kDa |
| NCBI Full Name: | dmX-like protein 2 isoform 1 |
| NCBI Synonym Full Names: | Dmx like 2 |
| NCBI Official Symbol: | DMXL2Â Â |
| NCBI Official Synonym Symbols: | RC3; PEPNS; DFNA71Â Â |
| NCBI Protein Information: | dmX-like protein 2 |
| UniProt Protein Name: | DmX-like protein 2 |
| UniProt Synonym Protein Names: | Rabconnectin-3 |
| Protein Family: | DmX-like protein |
| UniProt Gene Name: | DMXL2Â Â |
| UniProt Entry Name: | DMXL2_HUMAN |
