Gene Gene information from NCBI Gene database.
Entrez ID 51209
Gene name RAB9B, member RAS oncogene family
Gene symbol RAB9B
Synonyms (NCBI Gene)
RAB9LRab-9L
Chromosome X
Chromosome location Xq22.2
Summary This gene encodes a member of a subfamily of RAS small guanosine triphosphate (GTP)-binding proteins that regulate membrane trafficking. The encoded protein may be involved in endosome-to-Golgi transport. [provided by RefSeq, Jan 2010]
miRNA miRNA information provided by mirtarbase database.
141
miRTarBase ID miRNA Experiments Reference
MIRT000804 hsa-miR-15a-5p proteomics analysis 18362358
MIRT000803 hsa-miR-16-5p proteomics analysis 18362358
MIRT000769 hsa-miR-224-5p MicroarrayNorthern blot 16331254
MIRT639787 hsa-miR-590-3p HITS-CLIP 23824327
MIRT622536 hsa-miR-888-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003924 Function GTPase activity IEA
GO:0003925 Function G protein activity IDA 8164745
GO:0003925 Function G protein activity IEA
GO:0005515 Function Protein binding IPI 19490898, 20048159
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300285 14090 ENSG00000123570
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NP90
Protein name Ras-related protein Rab-9B (EC 3.6.5.2) (Rab-9-like protein) (Rab-9L)
Protein function The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to r
PDB 2OCB
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00071 Ras 9 174 Ras family Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:11043518}.
Sequence
Sequence length 201
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Salmonella infection
Measles
  Neutrophil degranulation
Retrograde transport at the Trans-Golgi-Network
RAB geranylgeranylation
RAB GEFs exchange GTP for GDP on RABs
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUDITORY NEUROPATHY SPECTRUM DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PELIZAEUS-MERZBACHER DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PELIZAEUS-MERZBACHER DISEASE, ATYPICAL Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Lymphohistiocytosis Hemophagocytic Associate 35902954
★☆☆☆☆
Found in Text Mining only