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RAB7A (RAB7A, member RAS oncogene family)

Identity

Alias (NCBI)CMT2B
PRO2706
RAB7
HGNC (Hugo) RAB7A
HGNC Previous nameRAB7
 CMT2B
HGNC Previous nameRAB7, member RAS oncogene family
 Charcot-Marie-Tooth neuropathy 2B
LocusID (NCBI) 7879
Atlas_Id 42007
Location 3q21.3  [Link to chromosome band 3q21]
Location_base_pair Starts at 128726183 and ends at 128814798 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
DDX6 (11q23.3) / RAB7A (3q21.3)LOC92249 () / RAB7A (3q21.3)MECOM (3q26.2) / RAB7A (3q21.3)
NID2 (14q22.1) / RAB7A (3q21.3)PFDN2 (1q23.3) / RAB7A (3q21.3)PNP (14q11.2) / RAB7A (3q21.3)
RAB7A (3q21.3) / CISD2 (4q24)RAB7A (3q21.3) / CSNK2A2 (16q21)RAB7A (3q21.3) / DICER1 (14q32.13)
RAB7A (3q21.3) / IL10RB (21q22.11)RAB7A (3q21.3) / LRCH3 (3q29)RAB7A (3q21.3) / LRRC47 (1p36.32)
RAB7A (3q21.3) / PKP2 (12p11.21)RAB7A (3q21.3) / RABEP1 (17p13.2)RAB7A (3q21.3) / SAMD12 (8q24.12)
SDCBP (8q12.1) / RAB7A (3q21.3)ZNF629 (16p11.2) / RAB7A (3q21.3)RAB7A 3q21.3 / RABEP1 17p13.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)RAB7A   9788
LRG (Locus Reference Genomic)LRG_266
Cards
Entrez_Gene (NCBI)RAB7A    RAB7A, member RAS oncogene family
AliasesCMT2B; PRO2706; RAB7
GeneCards (Weizmann)RAB7A
Ensembl hg19 (Hinxton)ENSG00000075785 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000075785 [Gene_View]  ENSG00000075785 [Sequence]  chr3:128726183-128814798 [Contig_View]  RAB7A [Vega]
ICGC DataPortalENSG00000075785
TCGA cBioPortalRAB7A
AceView (NCBI)RAB7A
Genatlas (Paris)RAB7A
SOURCE (Princeton)RAB7A
Genetics Home Reference (NIH)RAB7A
Genomic and cartography
GoldenPath hg38 (UCSC)RAB7A  -     chr3:128726183-128814798 +  3q21.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RAB7A  -     3q21.3   [Description]    (hg19-Feb_2009)
GoldenPathRAB7A - 3q21.3 [CytoView hg19]  RAB7A - 3q21.3 [CytoView hg38]
ImmunoBaseENSG00000075785
Genome Data Viewer NCBIRAB7A [Mapview hg19]  
OMIM600882   602298   
Gene and transcription
Genbank (Entrez)AF119891 AF498942 AK026136 AK094449 AK225177
RefSeq transcript (Entrez)NM_004637
Consensus coding sequences : CCDS (NCBI)RAB7A
Gene ExpressionRAB7A [ NCBI-GEO ]   RAB7A [ EBI - ARRAY_EXPRESS ]   RAB7A [ SEEK ]   RAB7A [ MEM ]
Gene Expression Viewer (FireBrowse)RAB7A [ Firebrowse - Broad ]
GenevisibleExpression of RAB7A in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7879
GTEX Portal (Tissue expression)RAB7A
Human Protein AtlasENSG00000075785-RAB7A [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP51149   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP51149  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP51149
PhosPhoSitePlusP51149
Domaine pattern : Prosite (Expaxy)RAB (PS51419)   
Domains : Interpro (EBI)P-loop_NTPase    Small_GTP-bd_dom    Small_GTPase   
Domain families : Pfam (Sanger)Ras (PF00071)   
Domain families : Pfam (NCBI)pfam00071   
Conserved Domain (NCBI)RAB7A
PDB (RSDB)1T91    1YHN    3LAW    6IYB    6WCW   
PDB Europe1T91    1YHN    3LAW    6IYB    6WCW   
PDB (PDBSum)1T91    1YHN    3LAW    6IYB    6WCW   
PDB (IMB)1T91    1YHN    3LAW    6IYB    6WCW   
Structural Biology KnowledgeBase1T91    1YHN    3LAW    6IYB    6WCW   
SCOP (Structural Classification of Proteins)1T91    1YHN    3LAW    6IYB    6WCW   
CATH (Classification of proteins structures)1T91    1YHN    3LAW    6IYB    6WCW   
SuperfamilyP51149
AlphaFold pdb e-kbP51149   
Human Protein Atlas [tissue]ENSG00000075785-RAB7A [tissue]
HPRD03805
Protein Interaction databases
DIP (DOE-UCLA)P51149
IntAct (EBI)P51149
BioGRIDRAB7A
STRING (EMBL)RAB7A
ZODIACRAB7A
Ontologies - Pathways
QuickGOP51149
Ontology : AmiGOautophagosome assembly  autophagosome membrane  GTPase activity  G protein activity  protein binding  GTP binding  lysosome  lysosome  lysosome  lysosomal membrane  late endosome  late endosome  late endosome  lipid droplet  cytosol  plasma membrane  protein targeting to lysosome  endocytosis  epidermal growth factor catabolic process  endosome to lysosome transport  endosome to lysosome transport  endosome membrane  endosome membrane  protein transport  lipid catabolic process  GDP binding  viral release from host cell  antigen processing and presentation of exogenous peptide antigen via MHC class II  protein to membrane docking  secretory granule membrane  phagocytic vesicle membrane  late endosome membrane  extrinsic component of lysosome membrane  melanosome membrane  suppression by symbiont of host defense-related programmed cell death  retrograde transport, endosome to Golgi  neutrophil degranulation  early endosome to late endosome transport  phagocytic vesicle  phagocytic vesicle  positive regulation of protein catabolic process  positive regulation of viral process  lipophagy  extracellular exosome  phagosome maturation  phagosome acidification  phagosome-lysosome fusion  phagosome-lysosome fusion  endosome to plasma membrane protein transport  multi-organism intercellular transport  negative regulation of exosomal secretion  positive regulation of exosomal secretion  negative regulation of intralumenal vesicle formation  retromer complex binding  
Ontology : EGO-EBIautophagosome assembly  autophagosome membrane  GTPase activity  G protein activity  protein binding  GTP binding  lysosome  lysosome  lysosome  lysosomal membrane  late endosome  late endosome  late endosome  lipid droplet  cytosol  plasma membrane  protein targeting to lysosome  endocytosis  epidermal growth factor catabolic process  endosome to lysosome transport  endosome to lysosome transport  endosome membrane  endosome membrane  protein transport  lipid catabolic process  GDP binding  viral release from host cell  antigen processing and presentation of exogenous peptide antigen via MHC class II  protein to membrane docking  secretory granule membrane  phagocytic vesicle membrane  late endosome membrane  extrinsic component of lysosome membrane  melanosome membrane  suppression by symbiont of host defense-related programmed cell death  retrograde transport, endosome to Golgi  neutrophil degranulation  early endosome to late endosome transport  phagocytic vesicle  phagocytic vesicle  positive regulation of protein catabolic process  positive regulation of viral process  lipophagy  extracellular exosome  phagosome maturation  phagosome acidification  phagosome-lysosome fusion  phagosome-lysosome fusion  endosome to plasma membrane protein transport  multi-organism intercellular transport  negative regulation of exosomal secretion  positive regulation of exosomal secretion  negative regulation of intralumenal vesicle formation  retromer complex binding  
Pathways : BIOCARTARab GTPases Mark Targets In The Endocytotic Machinery [Genes]   
Pathways : KEGGEndocytosis    Phagosome    Salmonella infection    Amoebiasis    Tuberculosis   
NDEx NetworkRAB7A
Atlas of Cancer Signalling NetworkRAB7A
Wikipedia pathwaysRAB7A
Orthology - Evolution
OrthoDB7879
GeneTree (enSembl)ENSG00000075785
Phylogenetic Trees/Animal Genes : TreeFamRAB7A
Homologs : HomoloGeneRAB7A
Homology/Alignments : Family Browser (UCSC)RAB7A
Gene fusions - Rearrangements
Fusion : MitelmanRAB7A/LRCH3 [3q21.3/3q29]  
Fusion : MitelmanRAB7A/RABEP1 [3q21.3/17p13.2]  
Fusion : QuiverRAB7A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRAB7A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RAB7A
dbVarRAB7A
ClinVarRAB7A
MonarchRAB7A
1000_GenomesRAB7A 
Exome Variant ServerRAB7A
GNOMAD BrowserENSG00000075785
Varsome BrowserRAB7A
ACMGRAB7A variants
VarityP51149
Genomic Variants (DGV)RAB7A [DGVbeta]
DECIPHERRAB7A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRAB7A 
Mutations
ICGC Data PortalRAB7A 
TCGA Data PortalRAB7A 
Broad Tumor PortalRAB7A
OASIS PortalRAB7A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRAB7A  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DRAB7A
Mutations and Diseases : HGMDRAB7A
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaRAB7A
DgiDB (Drug Gene Interaction Database)RAB7A
DoCM (Curated mutations)RAB7A
CIViC (Clinical Interpretations of Variants in Cancer)RAB7A
Cancer3DRAB7A
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600882    602298   
Orphanet14509   
DisGeNETRAB7A
MedgenRAB7A
Genetic Testing Registry RAB7A
NextProtP51149 [Medical]
GENETestsRAB7A
Target ValidationRAB7A
Huge Navigator RAB7A [HugePedia]
ClinGenRAB7A
Clinical trials, drugs, therapy
MyCancerGenomeRAB7A
Protein Interactions : CTDRAB7A
Pharm GKB GenePA162400619
PharosP51149
Clinical trialRAB7A
Miscellaneous
canSAR (ICR)RAB7A
HarmonizomeRAB7A
DataMed IndexRAB7A
Probes
Litterature
PubMed259 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXRAB7A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:27:58 CEST 2021

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