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RAB7A Gene(Protein Coding)

RAB7A, Member RAS Oncogene Family

GCID:
GC03P128727
GIFtS:
66
Genes Participants
UDN Logo

Aliases for RAB7A Gene

Aliases for RAB7A Gene

  • RAB7A, Member RAS Oncogene Family 2 3 5
  • RAB7, Member RAS Oncogene Family 2 3
  • RAB7 3 4
  • Ras-Associated Protein RAB7 3
  • Ras-Related Protein Rab-7a 3
  • PRO2706 3

External Ids for RAB7A Gene

Previous HGNC Symbols for RAB7A Gene

  • RAB7

Previous GeneCards Identifiers for RAB7A Gene

  • GC03P129928
  • GC03P128444
  • GC03P125832

Summaries for RAB7A Gene

Entrez Gene Summary for RAB7A Gene

  • RAB family members are small, RAS-related GTP-binding proteins that are important regulators of vesicular transport. Each RAB protein targets multiple proteins that act in exocytic / endocytic pathways. This gene encodes a RAB family member that regulates vesicle traffic in the late endosomes and also from late endosomes to lysosomes. This encoded protein is also involved in the cellular vacuolation of the VacA cytotoxin of Helicobacter pylori. Mutations at highly conserved amino acid residues in this gene have caused some forms of Charcot-Marie-Tooth (CMT) type 2 neuropathies. [provided by RefSeq, Jul 2008]

GeneCards Summary for RAB7A Gene

RAB7A (RAB7A, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB7A include Charcot-Marie-Tooth Disease, Type 2B and Choroideremia. Among its related pathways are Tuberculosis and Innate Immune System. GO annotations related to this gene include GTP binding and GDP binding. An important paralog of this gene is RAB9B.

UniProtKB/Swiss-Prot for RAB7A Gene

  • Key regulator in endo-lysosomal trafficking. Governs early-to-late endosomal maturation, microtubule minus-end as well as plus-end directed endosomal migration and positioning, and endosome-lysosome transport through different protein-protein interaction cascades. Plays a central role, not only in endosomal traffic, but also in many other cellular and physiological events, such as growth-factor-mediated cell signaling, nutrient-transportor mediated nutrient uptake, neurotrophin transport in the axons of neurons and lipid metabolism. Also involved in regulation of some specialized endosomal membrane trafficking, such as maturation of melanosomes, pathogen-induced phagosomes (or vacuoles) and autophagosomes. Plays a role in the maturation and acidification of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis. Plays a role in the fusion of phagosomes with lysosomes. Plays important roles in microbial pathogen infection and survival, as well as in participating in the life cycle of viruses. Microbial pathogens possess survival strategies governed by RAB7A, sometimes by employing RAB7A function (e.g. Salmonella) and sometimes by excluding RAB7A function (e.g. Mycobacterium). In concert with RAC1, plays a role in regulating the formation of RBs (ruffled borders) in osteoclasts. Controls the endosomal trafficking and neurite outgrowth signaling of NTRK1/TRKA (PubMed:11179213, PubMed:12944476, PubMed:14617358, PubMed:20028791, PubMed:21255211). Regulates the endocytic trafficking of the EGF-EGFR complex by regulating its lysosomal degradation. Involved in the ADRB2-stimulated lipolysis through lipophagy, a cytosolic lipase-independent autophagic pathway (By similarity). Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413).

Gene Wiki entry for RAB7A Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAB7A Gene

Genomics for RAB7A Gene

Products:

  1. Regulatory Element

Regulatory Elements for RAB7A Gene

Enhancers for RAB7A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03G128812 1.4 Ensembl ENCODE dbSUPER 12 +88.2 88177 3.7 HDAC1 ATF1 PKNOX1 TBL1XR1 ARNT TCF12 GATA2 ELK1 EGR1 SCRT2 LOC653712 ACAD9 RAB7A ENSG00000250796 ENSG00000207130 PIR59714 RPS15AP16
GH03G128845 1.6 FANTOM5 Ensembl ENCODE 7.8 +119.9 119898 2.0 HDGF ATF1 ARID4B SIN3A ZNF48 GLIS2 ZNF143 KLF13 KDM4B SP3 ACAD9 LOC653712 ENSG00000207130 RAB7A LOC100421508 GATA2-AS1 RPN1 KIAA1257 DNAJB8 PIR59919
GH03G128725 1.4 ENCODE dbSUPER 7.8 +0.7 716 3.3 HDGF PKNOX1 FOXA2 MLX ARNT CREB3L1 AGO1 ARID4B SIN3A DMAP1 LOC653712 ENSG00000250796 RAB7A ACAD9 PIR34016 GC03P128729
GH03G129050 1.5 Ensembl ENCODE dbSUPER 7.2 +327.2 327182 4.7 FOXA2 ARNT ARID4B SIN3A ZNF2 YY1 TCF12 GLIS2 GATA2 FOS KIAA1257 ISY1 EFCC1 RAB43 CNBP RAB7A RPL32P3 GP9 LOC100130760
GH03G128782 1.3 Ensembl ENCODE dbSUPER 8.1 +57.7 57679 3.6 CTCF PKNOX1 AGO1 ZIC2 ZNF2 RAD21 ZNF324 GATA3 POLR2A PATZ1 LOC653712 ENSG00000250796 ENSG00000207130 ACAD9 RAB7A RN7SL698P FTH1P4
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RAB7A on UCSC Golden Path with GeneCards custom track

Promoters for RAB7A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000158136 778 2201 HDGF PKNOX1 FOXA2 MLX ARNT CREB3L1 AGO1 ARID4B SIN3A DMAP1

Transcription factor binding sites by QIAGEN in the RAB7A gene promoter:

Genomic Location for RAB7A Gene

Chromosome:
3
Start:
128,726,122 bp from pter
End:
128,814,798 bp from pter
Size:
88,677 bases
Orientation:
Plus strand

Genomic View for RAB7A Gene

Genes around RAB7A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAB7A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAB7A Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for RAB7A Gene

Proteins for RAB7A Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for RAB7A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51149-RAB7A_HUMAN
    Recommended name:
    Ras-related protein Rab-7a
    Protein Accession:
    P51149
    Secondary Accessions:
    • A8K3V6
    • Q9NWJ0
    • Q9UPB0

    Protein attributes for RAB7A Gene

    Size:
    207 amino acids
    Molecular mass:
    23490 Da
    Quaternary structure:
    • The GTP-bound form interacts with RAC1 (By similarity). Interacts with NTRK1/TRKA (By similarity). Interacts with C9orf72 (By similarity). Interacts with CHM, the substrate-binding subunit of the Rab geranylgeranyltransferase complex (By similarity). Interacts with RILP (PubMed:11179213, PubMed:14668488, PubMed:15933719, PubMed:20028791, PubMed:22431521). Interacts with PSMA7 (PubMed:14998988). Interacts with RNF115 (PubMed:16925951). Interacts with FYCO1 (PubMed:20100911). Interacts with the PIK3C3/VPS34-PIK3R4 complex (PubMed:14617358). The GTP-bound form interacts with OSBPL1A (PubMed:16176980). Interacts with CLN3 (PubMed:22261744). Does not interact with HPS4 and the BLOC-3 complex (heterodimer of HPS1 and HPS4) (PubMed:20048159). Interacts with CLN5 (PubMed:22431521).
    SequenceCaution:
    • Sequence=BAA91390.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305}; Sequence=BAF83410.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305}; Sequence=EAW79303.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RAB7A Gene

neXtProt entry for RAB7A Gene

Protein Expression for RAB7A Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for RAB7A Gene

  • Ubiquitination at Lys32, Lys38, Lys126, isoforms=146, and Lys191
  • Modification sites at PhosphoSitePlus

Other Protein References for RAB7A Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for RAB7A (Rab7)

No data available for DME Specific Peptides for RAB7A Gene

Domains & Families for RAB7A Gene

Gene Families for RAB7A Gene

HGNC:

Protein Domains for RAB7A Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for RAB7A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P51149

UniProtKB/Swiss-Prot:

RAB7A_HUMAN :
  • Belongs to the small GTPase superfamily. Rab family.
Family:
  • Belongs to the small GTPase superfamily. Rab family.
genes like me logo Genes that share domains with RAB7A: view

Function for RAB7A Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
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  6. Cell Line
  7. Flow Cytometry

Molecular function for RAB7A Gene

UniProtKB/Swiss-Prot Function:
Key regulator in endo-lysosomal trafficking. Governs early-to-late endosomal maturation, microtubule minus-end as well as plus-end directed endosomal migration and positioning, and endosome-lysosome transport through different protein-protein interaction cascades. Plays a central role, not only in endosomal traffic, but also in many other cellular and physiological events, such as growth-factor-mediated cell signaling, nutrient-transportor mediated nutrient uptake, neurotrophin transport in the axons of neurons and lipid metabolism. Also involved in regulation of some specialized endosomal membrane trafficking, such as maturation of melanosomes, pathogen-induced phagosomes (or vacuoles) and autophagosomes. Plays a role in the maturation and acidification of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis. Plays a role in the fusion of phagosomes with lysosomes. Plays important roles in microbial pathogen infection and survival, as well as in participating in the life cycle of viruses. Microbial pathogens possess survival strategies governed by RAB7A, sometimes by employing RAB7A function (e.g. Salmonella) and sometimes by excluding RAB7A function (e.g. Mycobacterium). In concert with RAC1, plays a role in regulating the formation of RBs (ruffled borders) in osteoclasts. Controls the endosomal trafficking and neurite outgrowth signaling of NTRK1/TRKA (PubMed:11179213, PubMed:12944476, PubMed:14617358, PubMed:20028791, PubMed:21255211). Regulates the endocytic trafficking of the EGF-EGFR complex by regulating its lysosomal degradation. Involved in the ADRB2-stimulated lipolysis through lipophagy, a cytosolic lipase-independent autophagic pathway (By similarity). Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413).

Gene Ontology (GO) - Molecular Function for RAB7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity TAS,IDA 18272684
GO:0005515 protein binding IPI 14617358
GO:0005525 GTP binding IDA,IEA 18272684
GO:0019003 GDP binding IDA 18272684
GO:0048365 Rac GTPase binding IEA --
genes like me logo Genes that share ontologies with RAB7A: view
genes like me logo Genes that share phenotypes with RAB7A: view

Human Phenotype Ontology for RAB7A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RAB7A Gene

MGI Knock Outs for RAB7A:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for RAB7A Gene

Localization for RAB7A Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAB7A Gene

Cytoplasmic vesicle, phagosome membrane; Peripheral membrane protein; Cytoplasmic side. Late endosome membrane; Peripheral membrane protein; Cytoplasmic side. Lysosome membrane; Peripheral membrane protein; Cytoplasmic side. Melanosome membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasmic vesicle, autophagosome membrane; Peripheral membrane protein; Cytoplasmic side. Lipid droplet. Endosome membrane. Note=Colocalizes with OSBPL1A at the late endosome (PubMed:16176980). Found in the ruffled border (a late endosomal-like compartment in the plasma membrane) of bone-resorbing osteoclasts. Recruited to phagosomes containing S.aureus or Mycobacterium (PubMed:21255211). Lipid droplet localization is increased upon ADRB2 stimulation (By similarity). {ECO:0000250 UniProtKB:P51150, ECO:0000269 PubMed:16176980, ECO:0000269 PubMed:21255211}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RAB7A gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 5
lysosome 5
endosome 5
golgi apparatus 4
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for RAB7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000421 autophagosome membrane IEA --
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IEA --
GO:0005764 colocalizes_with lysosome IEA,IDA 18272684
GO:0005765 lysosomal membrane TAS --
genes like me logo Genes that share ontologies with RAB7A: view

Pathways & Interactions for RAB7A Gene

genes like me logo Genes that share pathways with RAB7A: view

Gene Ontology (GO) - Biological Process for RAB7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000045 autophagosome assembly IMP 19956673
GO:0006622 protein targeting to lysosome IMP 22115783
GO:0006629 lipid metabolic process IEA --
GO:0006810 transport IEA --
GO:0006897 endocytosis TAS 2115402
genes like me logo Genes that share ontologies with RAB7A: view

No data available for SIGNOR curated interactions for RAB7A Gene

Drugs & Compounds for RAB7A Gene

Products:

  1. Drug

(3) Drugs for RAB7A Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma Target 0

(9) Additional Compounds for RAB7A Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RAB7A: view

Transcripts for RAB7A Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for RAB7A Gene

(1) REFSEQ mRNAs :
(14) Additional mRNA sequences :
(1200) Selected AceView cDNA sequences:
(8) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for RAB7A Gene

RAB7A, member RAS oncogene family:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RAB7A Gene

No ASD Table

Relevant External Links for RAB7A Gene

GeneLoc Exon Structure for
RAB7A
ECgene alternative splicing isoforms for
RAB7A

Expression for RAB7A Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RAB7A Gene

mRNA expression in normal human tissues for RAB7A Gene
mRNA expression by BioGPS for RAB7A GenemRNA expression by GTEx for RAB7A Gene

mRNA differential expression in normal tissues according to GTEx for RAB7A Gene

This gene is overexpressed in Whole Blood (x4.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RAB7A Gene



Protein tissue co-expression partners for RAB7A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RAB7A Gene:

RAB7A

SOURCE GeneReport for Unigene cluster for RAB7A Gene:

Hs.744853

mRNA Expression by UniProt/SwissProt for RAB7A Gene:

P51149-RAB7A_HUMAN
Tissue specificity: Widely expressed; high expression found in skeletal muscle.

Evidence on tissue expression from TISSUES for RAB7A Gene

  • Nervous system(5)
  • Lung(4.9)
  • Liver(4.6)
  • Skin(4.6)
  • Kidney(4.4)
  • Intestine(4)
  • Blood(3.7)
  • Pancreas(3.4)
  • Eye(3.3)
  • Heart(3.3)
  • Muscle(3.1)
  • Spleen(2.8)
  • Lymph node(2.2)
  • Adrenal gland(2.1)
  • Bone marrow(2.1)
  • Stomach(2.1)
  • Thyroid gland(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RAB7A Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • lymphatic
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • head
Limb:
  • arm
  • digit
  • foot
  • forearm
  • hand
  • lower limb
  • nail
  • shin
  • thigh
  • toe
  • upper limb
General:
  • blood vessel
  • bone marrow
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with RAB7A: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein differential expression in normal tissues for RAB7A Gene

Orthologs for RAB7A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RAB7A Gene

Organism Taxonomy Gene Similarity Type Details
oppossum
(Monodelphis domestica)
 Mammalia RAB7A 35
  • 100 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia RAB7A 34 35
  • 99.84 (n)
dog
(Canis familiaris)
 Mammalia RAB7A 34 35
  • 95.01 (n)
rat
(Rattus norvegicus)
 Mammalia Rab7a 34
  • 91.95 (n)
mouse
(Mus musculus)
 Mammalia Rab7 34 16 35
  • 91.3 (n)
cow
(Bos Taurus)
 Mammalia RAB7A 34 35
  • 89.05 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia RAB7A 35
  • 81 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves RAB7A 34 35
  • 86.96 (n)
lizard
(Anolis carolinensis)
 Reptilia RAB7A 35
  • 100 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia rab7a 34
  • 83.57 (n)
Str.4511 34
zebrafish
(Danio rerio)
 Actinopterygii rab7 34 35
  • 81.48 (n)
zgc64058 34
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.3471 34
fruit fly
(Drosophila melanogaster)
 Insecta Rab7 35
  • 76 (a)
 OneToOne
worm
(Caenorhabditis elegans)
 Secernentea rab-7 35
  • 70 (a)
 OneToOne
A. gosspyii yeast
(Ashbya gossypii)
 Saccharomycetes AGOS_ACR003C 34
  • 63.88 (n)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes YPT7 34 35 37
  • 61.41 (n)
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0D01265g 34
  • 60.53 (n)
thale cress
(Arabidopsis thaliana)
 eudicotyledons RAB7B 34
  • 65.85 (n)
rice
(Oryza sativa)
 Liliopsida Os05g0516600 34
  • 67.49 (n)
Os.11710 34
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.7257 35
  • 76 (a)
 OneToOne
bread mold
(Neurospora crassa)
 Ascomycetes NCU03711 34
  • 70.96 (n)
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes ypt7 34
  • 61.58 (n)
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.5944 34
Species where no ortholog for RAB7A was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RAB7A Gene

ENSEMBL:
Gene Tree for RAB7A (if available)
TreeFam:
Gene Tree for RAB7A (if available)

Paralogs for RAB7A Gene

Paralogs for RAB7A Gene

(100) SIMAP similar genes for RAB7A Gene using alignment to 7 proteins:

Pseudogenes.org Pseudogenes for RAB7A Gene

genes like me logo Genes that share paralogs with RAB7A: view

Variants for RAB7A Gene

Sequence variations from dbSNP and Humsavar for RAB7A Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs121909078 Pathogenic, Charcot-Marie-Tooth disease 2B (CMT2B) [MIM:600882] 128,806,576(+) TTGAC(C/T)TCGAA reference, missense
rs121909079 Pathogenic, Charcot-Marie-Tooth disease 2B (CMT2B) [MIM:600882] 128,807,627(+) TCAAC(A/G)TGGAG reference, missense
rs121909080 Pathogenic, Charcot-Marie-Tooth disease 2B (CMT2B) [MIM:600882] 128,807,625(+) CATCA(A/C)CGTGG reference, missense
rs121909081 Pathogenic, Charcot-Marie-Tooth disease 2B (CMT2B) [MIM:600882] 128,807,614(+) GCCAA(C/G)GAGGC reference, missense
rs112000804 Likely benign 128,726,339(+) CCGGA(G/T)CCCCC utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for RAB7A Gene

Variant ID Type Subtype PubMed ID
esv2676268 CNV deletion 23128226
esv3562524 CNV deletion 23714750
esv3597725 CNV loss 21293372
nsv1127991 CNV deletion 24896259
nsv437853 CNV loss 16327808
nsv979876 CNV duplication 23825009

Variation tolerance for RAB7A Gene

Residual Variation Intolerance Score: 32.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.16; 3.50% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RAB7A Gene

Human Gene Mutation Database (HGMD)
RAB7A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAB7A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAB7A Gene

Disorders for RAB7A Gene

MalaCards: The human disease database

(11) MalaCards diseases for RAB7A Gene - From: ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
charcot-marie-tooth disease, type 2b
  • charcot-marie-tooth disease, axonal, type 2b
choroideremia
  • choroidal sclerosis
tabes dorsalis
  • posterior spinal sclerosis
charcot-marie-tooth disease
  • charcot marie tooth muscular atrophy
neuronal ceroid lipofuscinosis
  • hereditary ceroid lipofuscinosis
- elite association - COSMIC cancer census association via MalaCards
Search RAB7A in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RAB7A_HUMAN
  • Charcot-Marie-Tooth disease 2B (CMT2B) [MIM:600882]: A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. {ECO:0000269 PubMed:12545426, ECO:0000269 PubMed:15455439, ECO:0000269 PubMed:17060578, ECO:0000269 PubMed:20028791, ECO:0000269 PubMed:21151572}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for RAB7A

Genetic Association Database (GAD)
RAB7A
Human Genome Epidemiology (HuGE) Navigator
RAB7A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RAB7A
genes like me logo Genes that share disorders with RAB7A: view

No data available for Genatlas for RAB7A Gene

Publications for RAB7A Gene

  1. Cloning and mapping of human Rab7 and Rab9 cDNA sequences and identification of a Rab9 pseudogene. (PMID: 9126495) Davies J.P. … Ioannou Y.A. (Genomics 1997) 2 3 4 22 64
  2. Genes for hereditary sensory and autonomic neuropathies: a genotype- phenotype correlation. (PMID: 19651702) Rotthier A. … Timmerman V. (Brain 2009) 3 22 46 64
  3. A novel RAB7 mutation associated with ulcero-mutilating neuropathy. (PMID: 15455439) Houlden H. … Ginsberg L. (Ann. Neurol. 2004) 3 4 22 64
  4. Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy. (PMID: 12545426) Verhoeven K. … Timmerman V. (Am. J. Hum. Genet. 2003) 3 4 22 64
  5. Human VPS34 and p150 are Rab7 interacting partners. (PMID: 14617358) Stein M.P. … Wandinger-Ness A. (Traffic 2003) 3 4 22 64

Products for RAB7A Gene

  • Addgene plasmids for RAB7A

Sources for RAB7A Gene

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