RAB7B
protein-codingRAB7B, member RAS oncogene family, the group of RAB, member RAS oncogene GTPases
Gene summary
Enables G protein activity. Involved in late endosome to Golgi transport; positive regulation of interleukin-6 production; and positive regulation of megakaryocyte differentiation. Located in cytoplasmic vesicle; lysosome; and trans-Golgi network. [provided by Alliance of Genome Resources, Jun 2026]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~26.7 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to RAB7B variants in ClinVar
No annotated ClinVar phenotypes.
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript . Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 0 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 0 | 0 | 0 | 0 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001157994.1 | 5 | MANE Select | |
| Ensembl | ENSP00000482499.1 | 5 | MANE Select | |
| RefSeq | NP_001291768.1 | 4 | Standard | |
| RefSeq | NP_796377.3 | 5 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Salmonella infection - Homo sapiens (human)
- Phagosome - Homo sapiens (human)
- Autophagy - animal - Homo sapiens (human)
- Amoebiasis - Homo sapiens (human)
- Mitophagy - animal - Homo sapiens (human)
Biological Process
- intracellular protein transport
- endosome to lysosome transport
- Rab protein signal transduction
- positive regulation of interleukin-6 production
- negative regulation of toll-like receptor 4 signaling pathway
Molecular Function
- GTPase activity
- GTP binding
Cellular Component
- lysosome
- late endosome
- vacuolar membrane
- Golgi apparatus
- trans-Golgi network
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Controls vesicular trafficking from endosomes to the trans-Golgi network (TGN). Acts as a negative regulator of TLR9 signaling and can suppress TLR9-triggered TNFA, IL6, and IFNB production in macrophages by promoting TLR9 lysosomal degradation. Also negatively regulates TLR4 signaling in macrophages by promoting lysosomal degradation of TLR4. Promotes megakaryocytic differentiation by increasing NF-kappa-B-dependent IL6 production and subsequently enhancing the association of STAT3 with GATA1. Not involved in the regulation of the EGF- and EGFR degradation pathway. {ECO:0000269|PubMed:20375062, ECO:0000269|PubMed:20953574}.;