Gene Gene information from NCBI Gene database.
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
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
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
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.
MIM HGNC e!Ensembl
602298 9788 ENSG00000075785
Protein Protein information from UniProt database.
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.
  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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
21
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Charcot-Marie-Tooth disease Pathogenic rs121909078, rs121909079, rs121909080 RCV000789555
RCV000789554
RCV000789556
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease type 2B Pathogenic rs121909078, rs121909079, rs121909080, rs121909081 RCV000007770
RCV000007771
RCV001386686
RCV001049977
★★★★☆
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
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2B Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Absent corpus callosum cataract immunodeficiency Vici syndrome BEFREE 27588602, 31444285
★☆☆☆☆
Found in Text Mining only
Acid cholesteryl ester hydrolase deficiency, type 2 Wolman disease BEFREE 28924047
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 28588238
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum BEFREE 11231025
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 22673115, 30918899 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Alzheimer Disease Alzheimer disease Pubtator 28222213 Stimulate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autosomal dominant Charcot-Marie-Tooth disease type 2B Charcot-Marie-Tooth Disease Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Neoplasms Breast neoplasm Pubtator 28415719, 32814092 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 37044053 Associate
★☆☆☆☆
Found in Text Mining only
Cerebral Infarction Cerebral Infarction BEFREE 28726776
★☆☆☆☆
Found in Text Mining only