RAB7B (RAB7B, member RAS oncogene family)

Gene

• Entrez ID: 338382
• Gene name: RAB7B, member RAS oncogene family
• Gene symbol: RAB7B
• Synonyms (NCBI Gene): RAB7
• Chromosome: 1
• Chromosome location: 1q32.1

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT726808	hsa-miR-92a-3p	HITS-CLIP	22473208
MIRT726806	hsa-miR-92b-3p	HITS-CLIP	22473208
MIRT726807	hsa-miR-32-5p	HITS-CLIP	22473208

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0002682	Process	Regulation of immune system process	IEA
GO:0003924	Function	GTPase activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005525	Function	GTP binding	IEA
GO:0005764	Component	Lysosome	IBA
GO:0005764	Component	Lysosome	IDA	20375062
GO:0005764	Component	Lysosome	IEA
GO:0005768	Component	Endosome	IEA
GO:0005770	Component	Late endosome	IBA
GO:0005770	Component	Late endosome	IDA	20375062
GO:0005770	Component	Late endosome	IEA
GO:0005794	Component	Golgi apparatus	IDA	20375062
GO:0005794	Component	Golgi apparatus	IEA
GO:0005802	Component	Trans-Golgi network	IDA	20375062
GO:0008333	Process	Endosome to lysosome transport	IBA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0030670	Component	Phagocytic vesicle membrane	IEA
GO:0031090	Component	Organelle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031902	Component	Late endosome membrane	TAS
GO:0032755	Process	Positive regulation of interleukin-6 production	IMP	20953574
GO:0034144	Process	Negative regulation of toll-like receptor 4 signaling pathway	IEA
GO:0034144	Process	Negative regulation of toll-like receptor 4 signaling pathway	ISS
GO:0034164	Process	Negative regulation of toll-like receptor 9 signaling pathway	IEA
GO:0034164	Process	Negative regulation of toll-like receptor 9 signaling pathway	ISS
GO:0034499	Process	Late endosome to Golgi transport	IMP	20375062
GO:0045335	Component	Phagocytic vesicle	IBA
GO:0045335	Component	Phagocytic vesicle	IDA	21255211
GO:0045335	Component	Phagocytic vesicle	IEA
GO:0045654	Process	Positive regulation of megakaryocyte differentiation	IMP	20953574
GO:0051092	Process	Positive regulation of NF-kappaB transcription factor activity	IMP	20953574
GO:0071346	Process	Cellular response to type II interferon	IEA
GO:0090385	Process	Phagosome-lysosome fusion	IBA

Other IDs

• MIM: HGNC
• HGNC: N/A
• e!Ensembl: HGNC

Protein

• UniProt ID: Q96AH8
• Protein name: Ras-related protein Rab-7b
• Protein 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.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00071	Ras	10 → 173	Ras family	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in heart, placenta, lung, skeletal muscle and peripheral blood leukocyte. {ECO:0000269|PubMed:15144907}.
• Sequence:

  MNPRKKVDLKLIIVGAIGVGKTSLLHQYVHKTFYEEYQTTLGASILSKIIILGDTTLKLQ
  IWDTGGQERFRSMVSTFYKGSDGCILAFDVTDLESFEALDIWRGDVLAKIVPMEQSYPMV
  LLGNKIDLADRKVPQEVAQGWCREKDIPYFEVSAKNDINVVQAFEMLASRALSRYQSILE
  NHLTESIKLSPDQSRSRCC

• Sequence length: 199

Pathways

KEGG:

Mitophagy - animal
Autophagy - animal
Phagosome
Efferocytosis
Salmonella infection
Amoebiasis

Reactome:

TBC/RABGAPs
RAB geranylgeranylation
RAB GEFs exchange GTP for GDP on RABs

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Evidence Score
CYSTIC FIBROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYSTIC FIBROSIS ASSOCIATED MECONIUM ILEUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYSTIC FIBROSIS-RELATED DIABETES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEWY BODY DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from 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 Coronary Syndrome	Coronary Syndrome	CTD_human_DG	21751358		★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	28588238		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	15144907		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	18535180	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	20655510, 20847427, 21669283	Stimulate	★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	30816458	Stimulate	★☆☆☆☆ Found in Text Mining only
Arthritis Infectious	Infective arthritis	Pubtator	35371338	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	33633298	Inhibit	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	28726776, 30911939		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	30911939		★☆☆☆☆ Found in Text Mining only
Ceroid lipofuscinosis neuronal 5	Neuronal ceroid lipofuscinosis	Pubtator	22431521	Associate	★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	12545426, 17060578, 18272684, 18501189, 19651702, 20028791, 20645406, 23188822, 24498653, 30721447, 31386859		★☆☆☆☆ Found in Text Mining only
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder)	Charcot-Marie-Tooth Disease	BEFREE	12545426, 15319794, 15455439, 17060578, 18272684, 18501189, 19651702, 19754445, 20645406, 23188822, 23616551, 24521780, 30721447		★☆☆☆☆ Found in Text Mining only
Chediak-Higashi Syndrome	Chediak-Higashi Syndrome	BEFREE	9126495		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	28946560		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	28946560	Stimulate	★☆☆☆☆ Found in Text Mining only
Choroideremia	Choroideremia	BEFREE	15186776		★☆☆☆☆ Found in Text Mining only
Choroideremia	Choroideremia	Pubtator	15186776	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	20655510, 21669283	Stimulate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	20847427	Associate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	20847427, 21669283	Stimulate	★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	28946560		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	23316065	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystinosis	Cystinosis	BEFREE	28465352		★☆☆☆☆ Found in Text Mining only
Dissection of aorta	Aortic dissection	BEFREE	30816458		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	18535180	Associate	★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	28011901	Associate	★☆☆☆☆ Found in Text Mining only
Hemolytic-Uremic Syndrome	Hemolytic Uremic Syndrome	BEFREE	31153054		★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular degeneration	Pubtator	15681833	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Sensory and Autonomic Neuropathies	Hereditary sensory and autonomic neuropathy	BEFREE	19651702		★☆☆☆☆ Found in Text Mining only
Hereditary Sensory Autonomic Neuropathy, Type 1	Hereditary sensory and autonomic neuropathy	BEFREE	15455439		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	28186670		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	12054610, 28330474		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	31079930		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	9428630	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	32591494	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	30384495		★☆☆☆☆ Found in Text Mining only
Malignant Mesothelioma of Peritoneum	Peritoneal mesothelioma	BEFREE	17062665		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24981740		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	24981740, 29027991		★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	20655510, 21669283		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	35851620	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22638108, 28826913, 28924047, 31479239		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	28186670		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	24521780		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	12545426, 15455439, 15965219, 19392663, 23176482, 30721447		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	CTD_human_DG	18924182		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	Pubtator	21060993	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis, Age-Related	Osteoporosis	CTD_human_DG	18924182		★☆☆☆☆ Found in Text Mining only
Osteoporosis, Senile	Osteoporosis	CTD_human_DG	18924182		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	24769729	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	32499447	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28186670, 29747217		★☆☆☆☆ Found in Text Mining only
Peripheral motor neuropathy	Motor nerve neuritis	BEFREE	19651702		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	19651702, 35851620	Associate	★☆☆☆☆ Found in Text Mining only
Post-Traumatic Osteoporosis	Osteoporosis	CTD_human_DG	18924182		★☆☆☆☆ Found in Text Mining only
Sensory neuropathy	Sensory neuropathy	BEFREE	15965219		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	26110570	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	32591494	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	BEFREE	12034881		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	12034881	Associate	★☆☆☆☆ Found in Text Mining only
Toxic Shock Syndrome	Toxic Shock Syndrome	BEFREE	29046869		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	31662325		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	31662325	Associate	★☆☆☆☆ Found in Text Mining only
Warburg Sjo Fledelius syndrome	Warburg Micro Syndrome	BEFREE	30721447		★☆☆☆☆ Found in Text Mining only
Wolman Disease	Wolman Disease	BEFREE	28924047		★☆☆☆☆ Found in Text Mining only