RAB7A (RAB7A, member RAS oncogene family)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 7879
Gene name RAB7A, member RAS oncogene family
Gene symbol RAB7A
Synonyms (NCBI Gene)
CMT2BPRO2706RAB7
Chromosome 3
Chromosome location 3q21.3
Summary RAB family members are small, RAS-related GTP-binding proteins that are important regulators of vesicular transport. Each RAB protein targets multiple proteins that act in exocytic / endocytic pathways. This gene encodes a RAB family member that regulates
SNPs SNP information provided by dbSNP.
4
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (4)
SNP ID Visualize variation Clinical significance Consequence
rs121909078 C>T Pathogenic, not-provided, uncertain-significance Missense variant, coding sequence variant
rs121909079 G>A Pathogenic, not-provided, uncertain-significance Missense variant, coding sequence variant
rs121909080 A>C,G,T Pathogenic, not-provided, uncertain-significance Missense variant, coding sequence variant
rs121909081 G>C Pathogenic, not-provided, uncertain-significance Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
988
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (988)
miRTarBase ID miRNA Experiments Reference
MIRT042998 hsa-miR-324-3p CLASH 23622248
MIRT120371 hsa-miR-299-3p HITS-CLIP 24906430
MIRT606859 hsa-miR-3607-5p HITS-CLIP 24906430
MIRT606858 hsa-miR-370-3p HITS-CLIP 24906430
MIRT606857 hsa-miR-6893-3p HITS-CLIP 24906430
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
97
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (97)
GO ID Ontology Definition Evidence Reference
GO:0000045 Process Autophagosome assembly IMP 19956673
GO:0000166 Function Nucleotide binding IEA
GO:0000421 Component Autophagosome membrane IEA
GO:0003924 Function GTPase activity IDA 18272684
GO:0003924 Function GTPase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
602298 9788 ENSG00000075785
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P51149
Protein name Ras-related protein Rab-7a (EC 3.6.5.2)
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 1T91 , 1YHN , 3LAW , 6IYB , 6WCW , 7F6J , 8KB8 , 8ZQ3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00071 Ras 10 → 175 Ras family Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed; high expression found in skeletal muscle. {ECO:0000269|PubMed:12545426}.
Sequence
Sequence length 207
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Mitophagy - animal
Autophagy - animal
Endocytosis
Phagosome
Efferocytosis
Salmonella infection
Amoebiasis
Tuberculosis 		  MHC class II antigen presentation
Neutrophil degranulation
TBC/RABGAPs
RAB geranylgeranylation
RAB GEFs exchange GTP for GDP on RABs
Prevention of phagosomal-lysosomal fusion
Suppression of autophagy
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
204
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Charcot-Marie-Tooth disease Pathogenic rs121909078, rs121909079, rs121909080 RCV000789555
RCV000789554
RCV000789556
Charcot-Marie-Tooth disease type 2B Pathogenic rs121909078, rs121909079, rs121909080, rs121909081 RCV000007770
RCV000007771
RCV001386686
RCV001049977
Show/Hide Unknown Diseases (11)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs73198858 RCV005904087
Charcot-Marie-Tooth disease type 2 Conflicting classifications of pathogenicity; Uncertain significance; Likely benign rs763539443, rs139417205, rs886057948, rs886057944, rs371200521, rs770559386 RCV000388938
RCV000312729
RCV000321185
RCV000364403
RCV000371470
RCV000354507
Cholangiocarcinoma Benign rs73198858 RCV005904092
Gastric cancer Benign rs73198858 RCV005904089
Show/Hide Text Mining Associations (14)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 22673115, 30918899
Alzheimer Disease Stimulate 28222213
Breast Neoplasms Associate 28415719, 32814092
Carcinoma Hepatocellular Associate 37044053
Charcot Marie Tooth disease Type 2B Associate 24344282, 29130394, 32280996, 32829064, 35159308
Colorectal Neoplasms Associate 33357130, 34373442
Inflammation Associate 30918899, 32960812
Melanoma Associate 36871659
Neoplasm Metastasis Associate 28415719
Neoplasms Associate 32833964, 36261459, 37044053