Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
151393
Gene name Gene Name - the full gene name approved by the HGNC.
Regulator of microtubule dynamics 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RMDN2
Synonyms (NCBI Gene) Gene synonyms aliases
BLOCK18, FAM82A, FAM82A1, PRO34163, PYST9371, RMD-2, RMD2, RMD4
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p22.2
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000922 Component Spindle pole IEA
GO:0005515 Function Protein binding IPI 25416956, 28514442, 32296183, 33961781, 35271311
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
GO:0005739 Component Mitochondrion HTP 34800366
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611872 26567 ENSG00000115841
Protein
UniProt ID Q96LZ7
Protein name Regulator of microtubule dynamics protein 2 (RMD-2) (hRMD-2) (Protein FAM82A1)
Family and domains
Sequence
MPYSTNKELILGIMVGTAGISLLLLWYHKVRKPGIAMKLPEFLSLGNTFNSITLQDEIHD
DQGTTVIFQERQLQILEKLNELLTNMEELKEEIRFLKEAIPKLEEYIQDELGGKITVHKI
SPQHRARKRRLPTIQSSATSNSSEEAESEGGYITANTDTEEQSFPVPKAFNTRVEELNLD
VLLQKVDHLRMSESGKSESFELLRDHKEKFRDEIEFMWRFARAYGDMYELSTNTQEKKHY
ANIGKTLSERAINRAPMNGHCHLWYAVLCGYVSEFEGLQNKINYGHLFKEHLDIAIKLLP
EEPFLYYLKGRYCYTVSKLSWIEKKMAATLFGKIPSSTVQEALHNFLKAEELCPGYSNPN
YMYLAKCYTDLEENQNALKFCNLALLLPTVTKEDKEAQKEMQKIMTSLKR
Sequence length 410
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Childhood asthma exacerbations in long-acting beta2-agonist treatment N/A N/A GWAS
Melanoma Melanoma N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 28222213, 29729314, 40363838
Corticobasal Degeneration Associate 29084565
Frontotemporal Dementia Associate 29729314, 30517788, 34057756
Frontotemporal Lobar Degeneration Associate 29729314
Lymphoma Non Hodgkin Associate 8104536
Nerve Degeneration Associate 26220942
Neurodegenerative Diseases Associate 21085657, 29729314, 30720432
Parkinson Disease Associate 29084565
Parkinson Disease Secondary Associate 30517788
Supranuclear Palsy Progressive Associate 29084565, 39251599