1. Gene
  2. RAB7B - RAB7B, member RAS oncogene family Gene

RAB7B - RAB7B, member RAS oncogene family Gene

Homo sapiens

Also known as RAB7

Gene ID: 338382 | Gene type: protein coding

About RAB7B

This gene has 5 transcripts (splice variants), 122 orthologues and 68 paralogues. Broad expression in skin (RPKM 15.7), gall bladder (RPKM 6.5) and 20 other tissues.

Summary

Predicted to enable GTP binding activity and GTPase activity. Involved in late endosome to Golgi transport; positive regulation of megakaryocyte differentiation; and regulation of gene expression. Located in cytoplasmic vesicle; lysosome; and trans-Golgi network. [provided by Alliance of Genome Resources, Apr 2022]

RAB7B Products(3)

mRNA Protein Name
NM_001164522.3 NP_001157994.1 ras-related protein Rab-7b isoform a
NM_001304839.2 NP_001291768.1 ras-related protein Rab-7b isoform b
NM_177403.6 NP_796377.3 ras-related protein Rab-7b isoform a
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Biological Process GO Annotation Evidence Reference Source
involved in late endosome to Golgi transport IMP
IMP: Inferred from mutant phenotype
20375062 GOA
involved in positive regulation of NF-kappaB transcription factor activity IMP
IMP: Inferred from mutant phenotype
20953574 GOA
involved in positive regulation of interleukin-6 production IMP
IMP: Inferred from mutant phenotype
20953574 GOA
involved in positive regulation of megakaryocyte differentiation IMP
IMP: Inferred from mutant phenotype
20953574 GOA
Cellular Component GO Annotation Evidence Reference Source
located in Golgi apparatus IDA
IDA: Inferred from direct assay
20375062 GOA
located in late endosome IDA
IDA: Inferred from direct assay
20375062 GOA
located in lysosome IDA
IDA: Inferred from direct assay
20375062 GOA
located in phagocytic vesicle IDA
IDA: Inferred from direct assay
21255211 GOA
located in trans-Golgi network IDA
IDA: Inferred from direct assay
20375062 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

ras-related protein Rab-7b

Ras-related protein Rab-7

Related Diseases

Diseases Alias
Charcot-Marie-Tooth Disease, Axonal, Type 2b

Charcot-Marie-Tooth Disease Type 2b

CMT2B

Hmsn Iib

Hmsn2b

Charcot-Marie-Tooth Disease, Type 2b

Hereditary Motor And Sensory Neuropathy Iib

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2b

Charcot-Marie-Tooth Neuropathy Type 2b

Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2b

Charcot-Marie-Tooth Neuropathy, Type 2b

Hereditary Motor And Sensory Nueropathy Iib

Cmt 2b

Charcot Marie Tooth Disease Type 2b

Charcot-Marie-Tooth Disease, Neuronal, Type 2b

Hereditary Motor And Sensory Neuropathy 2 B

Peripheral Sensory Neuropathy, Autosomal Dominant

Charcot-Marie-Tooth Disease 2b

Charcot-Marie-Tooth Disease Axonal Type 2b

Charcot-Marie-Tooth Disease Neuronal Type 2b

Peripheral Sensory Neuropathy Autosomal Dominant

Psn

Pontocerebellar Hypoplasia, Type 2e

Pontocerebellar Hypoplasia Type 2

Pontocerebellar Hypoplasia Type 2e

Pch2

PCH2E

Progressive Microcephaly From Birth Extrapyramidal Dyskinesia Chorea Epilepsy

Pontocerebellar Hypoplasia 2e

Pcca2

Progressive Cerebello-Cerebral Atrophy Type 2

Doid:0112328

Hypoplasia, Pontocerebellar, Type 2e

Pontocerebellar Hypoplasia, Type 2d

Pontocerebellar Hypoplasia Type 2a

Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux

Hsan1b

Hereditary Sensory Neuropathy Type 1b

Hsan With Cough And Gastroesophageal Reflux

Neuropathy, Hereditary Sensory And Autonomic, Type Ib

Neuropathy, Hereditary Sensory, Type Ib

Hsn1b

Hereditary Sensory Neuropathy Type Ib

Hereditary Sensory And Autonomic Neuropathy Type 1b

Hereditary Sensory And Autonomic Neuropathy Type 1 With Cough And Gastroesophageal Reflux

Hereditary Sensory And Autonomic Neuropathy Type Ib

Hereditary Sensory Neuropathy, Type Ib

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7

Ftd3

Frontotemporal Dementia, Chromosome 3-Linked

Amyotrophic Lateral Sclerosis, Chmp2b-Related

Chromosome 3-Linked Frontotemporal Dementia

FTDALS7

Chmp2b-Related Frontotemporal Dementia

Amyotrophic Lateral Sclerosis 17, Formerly

Als17, Formerly

Amyotrophic Lateral Sclerosis Type 17

Dtm1

Ftd-3

Ftd-Chmp2b

Als17

Amyotrophic Lateral Sclerosis 17

Sclerosis, Lateral, Amyotrophic, Type 17

Dementia, Frontotemporal, Chromosome 3-Linked

Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Charcot-Marie-Tooth Disease Type 4

Charcot-Marie-Tooth Disease Type 4e

Hereditary Motor And Sensory Neuropathy

Cmt4e

CHN1

Hypomyelinating Neuropathy, Congenital, 1

Charcot-Marie-Tooth Neuropathy Type 4e

Neuropathy, Congenital Hypomyelinating, 1

Ar-Cmt1

Autosomal Recessive Demyelinating Charcot-Marie-Tooth

Cmt4

Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive

Hypomyelination, Severe Congenital

Charcot-Marie-Tooth Disease, Type 4e

Charcot-Marie-Tooth Neuropathy, Type 4e

Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy

Autosomal Recessive Congenital Hypomyelinating Neuropathy

Congenital Amyelinating Neuropathy

Congenital Hypomyelinating Neuropathy Autosomal Recessive

Neuropathy, Congenital Hypomyelinating Or Amyelinating

Severe Congenital Hypomyelination

Hereditary Sensory Motor Neuropathy

Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive

Neuropathy, Hypomyelinating, Congenital, Type 1

Neuropathy, Motor And Sensory, Hereditary

Congenital Hypomyelinating Neuropathy

Hereditary Motor And Sensory Neuropathies

Hereditary Sensorimotor Neuropathy

Hmsn - [Hereditary Motor And Sensory Neuropathy]

Hsmn - [Hereditary Sensory And Motor Neuropathy]

Hereditary Motor And Sensory Neuropathy, Types I-Iv

Charcot-Marie-Tooth Disease And Deafness

Charcot-Marie-Tooth Disease Type 1e

CMT1E

Charcot-Marie-Tooth Disease Type 1

Hereditary Motor And Sensory Neuropathy Type 1

Charcot-Marie-Tooth Disease, Demyelinating, Type 1e

Charcot-Marie-Tooth Disease, Type I

Charcot-Marie-Tooth Neuropathy And Deafness, Autosomal Dominant

Charcot-Marie-Tooth Disease, Type 1e

Charcot-Marie-Tooth Disease Demyelinating Type 1e

Autosomal Dominant Demyelinating Charcot-Marie-Tooth Disease

Cmt1

Charcot-Marie-Tooth Neuropathy Type 1

Autosomal Dominant Charcot-Marie-Tooth Neuropathy And Deafness

Charcot-Marie-Tooth Disease-Deafness

Charcot-Marie-Tooth Type 1

Hmsn1

Hereditary Motor And Sensory Neuropathy 1

Cmt 1e

Charcot Marie Tooth Disease Type 1e

Charcot-Marie-Tooth Disease-Deafness Syndrome

Charcot-Marie-Tooth Disease-Hearing Loss Syndrome

Charcot-Marie-Tooth Disease 1e

Charcot-Marie-Tooth Disease And Deafness Autosomal Dominant

Charcot-Marie-Tooth Neuropathy Type 1e

Charcot-Marie-Tooth Disease, Type Ie

Hereditary Motor And Sensory Neuropathy Type I

Charcot-Marie-Tooth Disease, Axonal, Type 2e

Charcot-Marie-Tooth Disease Type 2

CMT2E

CMT2S

CMT2Y

Charcot-Marie-Tooth Disease Type 2e

Charcot-Marie-Tooth Disease Type 2y

Charcot-Marie-Tooth Disease Axonal Type 2s

Charcot-Marie-Tooth Disease, Axonal, Type 2s

Charcot-Marie-Tooth Disease, Type 2e

Hereditary Motor And Sensory Neuropathy Type 2

Charcot-Marie-Tooth Neuropathy, Type 2s

Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s

Charcot-Marie-Tooth Disease, Axonal, Type 2y

Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y

Charcot-Marie-Tooth Neuropathy, Type 2y

Charcot-Marie-Tooth Disease, Type 2y

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e

Charcot-Marie-Tooth Neuropathy Type 2e

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation

Cmt2 Due To Vcp Mutation

Charcot-Marie-Tooth Disease Type 2s

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2

Autosomal Dominant Axonal Charcot-Marie-Tooth Disease

Cmt2

Charcot-Marie-Tooth Neuropathy, Type 2e

Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type

Hereditary Motor And Sensory Neuropathy Okinawa Type

Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y

Charcot-Marie-Tooth Neuropathy Type 2y

Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s

Charcot-Marie-Tooth Neuropathy Type 2s

Charcot-Marie-Tooth Type 2

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y

Charcot-Marie-Tooth Disease 2e

Charcot-Marie-Tooth Disease Axonal Type 2e

Charcot-Marie-Tooth Disease Neuronal Type 2e

Charcot-Marie-Tooth Disease 2s

Charcot-Marie-Tooth Neuropathy Axonal Type 2s

Charcot-Marie-Tooth Disease 2y

Charcot-Marie-Tooth Disease, Type 2

Hereditary Motor And Sensory-Neuropathy Type Ii

Vici Syndrome

Absent Corpus Callosum Cataract Immunodeficiency

VICIS

Immunodeficiency With Cleft Lip/Palate, Cataract, Hypopigmentation, And Absent Corpus Callosum

Dionisi Vici Sabetta Gambarara Syndrome

Immunodeficiency With Cleft Lip/Palate, Cataract, Hypopigmentation And Absent Corpus Callosum

Corpus Callosum Agenesis-Cataract-Immunodeficiency Syndrome

Dionisi-Vici-Sabetta-Gambarara Syndrome

Immunodeficiency With Cleft Lip/Palate Cataract Hypopigmentation And Absent Corpus Callosum

Charcot-Marie-Tooth Disease, Axonal, Type 2l

Charcot-Marie-Tooth Disease Axonal Type 2l

CMT2L

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2l

Charcot-Marie-Tooth Neuropathy, Axonal, Type 2l

Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2l

Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2l

Charcot-Marie-Tooth Neuropathy Axonal Type 2l

Charcot-Marie-Tooth Disease 2l

Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2l

Charcot-Marie-Tooth Disease Neuronal Type 2l

Charcot-Marie-Tooth Neuropathy Type 2l

Charcot-Marie-Tooth Disease, Type 2l

Charcot-Marie-Tooth Disease, Type 2i

Charcot-Marie-Tooth Disease, Type 4j

Charcot-Marie-Tooth Disease Type 4j

CMT4J

Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4j

Autosomal Recessive Charcot-Marie-Tooth Disease Type 4j

Charcot-Marie-Tooth Disease 4j

Charcot-Marie-Tooth Disease, Dominant Intermediate B

CMTDIB

Charcot-Marie-Tooth Disease Dominant Intermediate B

Di-Cmtb

Cmtdi1

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2m

Charcot-Marie-Tooth Neuropathy Dominant Intermediate B

CMT2M

Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B

Charcot-Marie-Tooth Disease, Axonal Type 2m

Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B

Charcot-Marie-Tooth Disease 2m

Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2m

Charcot-Marie-Tooth Disease Axonal Type 2m

Charcot-Marie-Tooth Neuropathy Axonal Type 2m

Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, B

Charcot-Marie-Tooth Disease, Axonal, Type 2m

Charcot-Marie-Tooth Disease, Dominant Intermediate, Type B

Legionnaire Disease

Legionnaires' Disease

Legionnaires Disease

Legionnaire Disease, Susceptibility To

Legionella

Legionella Pneumonia

Infection By Legionella Pneumophilia

Legionnaire'S Disease

Legionellosis

Legionaire Disease, Susceptibility To

Legionnaires Pneumonia

Spinocerebellar Ataxia, Autosomal Recessive 15

Autosomal Recessive Spinocerebellar Ataxia 15

SCAR15

Salih Ataxia

Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Rubcn Deficiency

Autosomal Recessive Spinocerebellar Ataxia Type 15

Spinocerebellar Ataxia, Autosomal Recessive, 15

Ataxia, Spinocerebellar, Autosomal Recessive, Type 15

Neuropathy, Hereditary Sensory, Type Id

HSN1D

Hereditary Sensory Neuropathy Type 1d

Neuropathy, Hereditary Sensory, Type 1d

Neuropathy, Hereditary Sensory, 1d

Hereditary Sensory Neuropathy Type Id

Neuropathy, Sensory, Hereditary, Type Id

Charcot-Marie-Tooth Disease, Type 4b2

Charcot-Marie-Tooth Disease Type 4b2

CMT4B2

Charcot-Marie-Tooth Disease, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b2

Charcot-Marie-Tooth Neuropathy, Type 4b2

Charcot-Marie-Tooth Neuropathy Type 4b2

Autosomal Recessive Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 4b2

Cmt 4b2

Charcot Marie Tooth Disease Type 4b2

Charcot-Marie-Tooth Disease 4b2

Charcot-Marie-Tooth Disease Autosomal Recessive With Focally Folded Myelin Sheaths 4b2

Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b2

Legionellosis

Legionella Infection

Pontiac Fever

Legionnaires' Disease

Infection By Legionella Pneumophilia

Legionella Pneumophila Infection

Cataract 44

CTRCT44

Total Early-Onset Cataract

Cataract 44 And Hypotrichosis

Cataract And Hypotrichosis

Cataract, Type 44

C Syndrome

Opitz Trigonocephaly Syndrome

Trigonocephaly

Trigonocephaly Syndrome

Trigonocephaly C Syndrome

Opitz C Trigonocephaly

Opitz Trigonocephaly C Syndrome

Otcs

CSYN

Niemann-Pick Disease, Type C1

Niemann-Pick Disease, Type C

NPC1

Niemann-Pick Disease, Type D

Niemann-Pick Disease Type C1

Niemann-Pick Disease With Cholesterol Esterification Block

Niemann-Pick Disease, Subacute Juvenile Form

Neurovisceral Storage Disease With Vertical Supranuclear Ophthalmoplegia

Npc

Niemann-Pick Disease, Chronic Neuronopathic Form

Niemann-Pick Disease Without Sphingomyelinase Deficiency

Niemann-Pick Disease Type C

Niemann-Pick Disease Type D

Niemann-Pick C1 Disease

Niemann-Pick Disease C1

Niemann-Pick Disease Chronic Neuronopathic Form

Niemann-Pick Disease Nova Scotian Type

Niemann-Pick Disease Subacute Juvenile Form

Niemann-Pick Disease Type Ii

Niemann-Picks Disease Type C

Warburg Micro Syndrome 1

Warburg Micro Syndrome

Micro Syndrome

Warbm

WARBM1

Warburg Sjo Fledelius Syndrome

Warburg-Sjo-Fledelius Syndrome

Micro Syndrome 1

Microcephaly, Microcornea, Congenital Cataract, Intellectual Disability, Optic Atrophy And Hypogenitalism

Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson Disease

Niemann-Pick Disease

Sphingomyelin/Cholesterol Lipidosis

Niemann-Pick Diseases

Lipoid Histiocytosis

Sphingomyelin Lipidosis

Sphingomyelinase Deficiency Disease

Lipid Histiocytosis

Neuronal Cholesterol Lipidosis

Neuronal Lipidosis

Npd

Sphingomyelinase Deficiency

Niemann-Pick Disease, Type A

Hereditary Sensory And Autonomic Neuropathy Type 1

Hereditary Sensory And Autonomic Neuropathy Type I

Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome

Hsan1e

Hsan1

Dnmt1-Related Dementia, Deafness, And Sensory Neuropathy

Hsn1e

Hsnie

Hereditary Sensory Neuropathy Type Ie

Hereditary Sensory Neuropathy-Sensorineural Hearing Loss-Dementia Syndrome

Hereditary Sensory And Autonomic Neuropathy Type Ie

Hereditary Sensory And Autonomic Neuropathy Type 1e

Hereditary Sensory Neuropathy With Hearing Loss And Dementia

Dnmt1-Complex Disorder

Hereditary Sensory And Autonomic Neuropathy Type 1 With Dementia And Hearing Loss

Hsn Ie

Hereditary Sensory Autonomic Neuropathy, Type 1

Hsan1- [Hereditary Sensory And Autonomic Neuropathy Type I]

Neuronal Ceroid Lipofuscinosis

Hereditary Ceroid Lipofuscinosis

Batten Disease

Ncl

Neuronal Ceroid-Lipofuscinoses

Lipofuscinosis, Ceroid, Neuronal

Juvenile Neuronal Ceroid Lipofuscinosis

Cerebromacular Dystrophy

Cerebromacular Degeneration

Ceroid-Lipofuscinosis

Ncl - [Neuronal Ceroid Lipofuscinosis]

Amaurotic Familial Idiocy

Amaurotic Idiocy

Amaurotic Idiot

Neuronal Lipofuscinosis

Pigmentary Retinal Lipoid Neuronal Heredodegeneration

Neuromuscular Disease

Neuromuscular Diseases

Neuromuscular Disorders

Neuromuscular Disorder

Hermansky-Pudlak Syndrome

Hps

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Hermanski-Pudlak Syndrome

Hermansky Pudlak Syndrome

Platelet Storage Pool Deficiency

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia

Hereditary Spastic Paraparesis

Strumpell-Lorrain Disease

Familial Spastic Paraparesis

Hsp

Spg

Strümpell-Lorrain Disease

Spastic Paraplegia, Hereditary

French Settlement Disease

Strumpell-Lorrain Syndrome

Fsp

Spastic Paraplegia, Familial

Spastic Paraplegia Hereditary

Spastic Paraplegia 3, Autosomal Dominant

Spastic Paraparesis

Hereditary Spastic Paralysis

Familial Spastic Paralysis

Hereditary Spastic Ataxia

Charcot-Marie-Tooth Disease

Cmt

Hmsn

Hereditary Motor And Sensory Neuropathy

Pma

Cmt - Charcot-Marie-Tooth Disease

Charcot Marie Tooth Disease

Charcot-Marie-Tooth Hereditary Neuropathy

Charcot-Marie-Tooth Syndrome

Peroneal Muscular Atrophy

Hereditary Motor And Sensory Neuropathies

Peripheral Nervous System Disease

Peripheral Neuropathy

Peripheral Nerve Disease

Peripheral Nerve Disorders

Neuropathy, Peripheral

Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus RAB7B VGNC VGNC:97594
Macaca mulatta RAB7B VGNC VGNC:106480
Rattus norvegicus RAB7B RGD RGD:1562617
Bos taurus RAB7B VGNC VGNC:33661
Canis familiaris RAB7B VGNC VGNC:45294
Mus musculus RAB7B MGD MGI:2442295