RAB7B

RAB7B, member RAS oncogene family, the group of RAB, member RAS oncogene GTPases

Basic information

Region (hg38): 1:205976740-206003461

Links

ENSG00000276600 ∙ NCBI:338382 ∙ ∙ HGNC:30513 ∙ Uniprot:Q96AH8 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RAB7B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RAB7B gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• 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}.
• Pathway: Salmonella infection - Homo sapiens (human);Phagosome - Homo sapiens (human);Autophagy - animal - Homo sapiens (human);Amoebiasis - Homo sapiens (human);Mitophagy - animal - Homo sapiens (human);Vesicle-mediated transport;TBC/RABGAPs;Membrane Trafficking;Post-translational protein modification;Metabolism of proteins;Rab regulation of trafficking;RAB GEFs exchange GTP for GDP on RABs;RAB geranylgeranylation (Consensus)

Mouse Genome Informatics

• Gene name: Rab7b

Gene ontology

• 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;negative regulation of toll-like receptor 9 signaling pathway;late endosome to Golgi transport;positive regulation of megakaryocyte differentiation;positive regulation of NF-kappaB transcription factor activity;cellular response to interferon-gamma;phagosome-lysosome fusion
• Cellular component: lysosome;late endosome;vacuolar membrane;Golgi apparatus;trans-Golgi network;phagocytic vesicle membrane;late endosome membrane;phagocytic vesicle
• Molecular function: GTPase activity;GTP binding