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RAB7A Gene(Protein Coding)

RAB7A, Member RAS Oncogene Family

GCID:
GC03P128727
GIFtS:
58
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, Axonal, Type 2B and Vici Syndrome. Among its related pathways are Mitophagy - animal and wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF). Gene Ontology (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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for RAB7A Gene

Promoters and enhancers for RAB7A Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH03I128725 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 557.9 +0.7 715 3.3 HDGF PKNOX1 CLOCK FOXA2 MLX ARNT ARID4B SIN3A DMAP1 YY1 RAB7A GC03P128729 PIR34016 ENSG00000250796 LOC653712 ACAD9
GH03I128877 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 7.7 +153.4 153430 3.6 CLOCK MLX DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 ACAD9 PIR50406 ENSG00000244932 RPL32P3 ISY1 H1FX LOC653712 H1FX-AS1 MBD4 RPS15AP16
GH03I129178 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 5.6 +456.4 456422 8.4 PKNOX1 SMAD1 FOXA2 MLX ZFP64 ARID4B NEUROD1 SIN3A FEZF1 DMAP1 CNBP LOC105374101 ENSG00000244932 RPL32P3 ISY1 MBD4 RPS15AP16 H1FX H1FX-AS1 COPG1
GH03I128845 Enhancer 1.5 FANTOM5 Ensembl ENCODE 7.8 +119.9 119897 2 HDGF ATF1 FOXA2 ARID4B SIN3A ZNF48 GLIS2 ZNF143 ATF7 RUNX3 GC03M128907 GC03M128926 GC03M128927 GC03M128929 GC03P129745 GC03P129750 GC03P129758 GC03P129761 GC03P129777 GC03P129778
GH03I128812 Enhancer 0.9 Ensembl ENCODE dbSUPER 12 +88.2 88176 3.7 ZFHX2 ESRRA EGR1 NR2F2 SPI1 EGR2 LOC653712 ACAD9 RAB7A ENSG00000250796 ENSG00000207130 PIR59714 RPS15AP16
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RAB7A on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for RAB7A Gene

Genomic Locations for RAB7A Gene
chr3:128,726,122-128,814,798
(GRCh38/hg38)
Size:
88,677 bases
Orientation:
Plus strand
chr3:128,444,965-128,533,641
(GRCh37/hg19)

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:

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  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). Interacts with PLEKHM1 (via N- and C-terminus) (By similarity).
    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 isoforms=32, isoforms=38, Lys126, isoforms=146, and Lys191

Other Protein References for RAB7A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RAB7A Gene

Domains & Families for RAB7A Gene

Gene Families for RAB7A Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

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

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  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
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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).

Phenotypes From GWAS Catalog for RAB7A Gene

Gene Ontology (GO) - Molecular Function for RAB7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity IEA,IDA 18272684
GO:0005515 protein binding IPI 14617358
GO:0005525 GTP binding IDA,IEA 18272684
GO:0019003 GDP binding IEA,IDA 18272684
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

Clone Products

  • Addgene plasmids for RAB7A

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 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Lysosomes (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RAB7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000421 autophagosome membrane IEA --
GO:0005737 cytoplasm IEA --
GO:0005764 colocalizes_with lysosome IEA,IDA 18272684
GO:0005765 lysosomal membrane TAS --
GO:0005768 endosome IEA --
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

(4) 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

(8) 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

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

Clone Products

  • Addgene plasmids for RAB7A

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)
  • Heart(3.3)
  • Eye(3.2)
  • 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 34
  • 100 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia RAB7A 33 34
  • 99.84 (n)
dog
(Canis familiaris)
 Mammalia RAB7A 33 34
  • 95.01 (n)
rat
(Rattus norvegicus)
 Mammalia Rab7a 33
  • 91.95 (n)
mouse
(Mus musculus)
 Mammalia Rab7 33 16 34
  • 91.3 (n)
cow
(Bos Taurus)
 Mammalia RAB7A 33 34
  • 89.05 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia RAB7A 34
  • 81 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves RAB7A 33 34
  • 86.96 (n)
lizard
(Anolis carolinensis)
 Reptilia RAB7A 34
  • 100 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia rab7a 33
  • 83.57 (n)
Str.4511 33
zebrafish
(Danio rerio)
 Actinopterygii rab7 33 34
  • 81.48 (n)
zgc64058 33
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.3471 33
fruit fly
(Drosophila melanogaster)
 Insecta Rab7 34
  • 76 (a)
 OneToOne
worm
(Caenorhabditis elegans)
 Secernentea rab-7 34
  • 70 (a)
 OneToOne
A. gosspyii yeast
(Ashbya gossypii)
 Saccharomycetes AGOS_ACR003C 33
  • 63.88 (n)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes YPT7 33 34 36
  • 61.41 (n)
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0D01265g 33
  • 60.53 (n)
thale cress
(Arabidopsis thaliana)
 eudicotyledons RAB7B 33
  • 65.85 (n)
rice
(Oryza sativa)
 Liliopsida Os05g0516600 33
  • 67.49 (n)
Os.11710 33
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.7257 34
  • 76 (a)
 OneToOne
bread mold
(Neurospora crassa)
 Ascomycetes NCU03711 33
  • 70.96 (n)
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes ypt7 33
  • 61.58 (n)
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.5944 33
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 Variation AA Info Type
rs1005830626 uncertain-significance, Charcot-Marie-Tooth, Type 2 128,726,350(+) A/G 5_prime_UTR_variant
rs112000804 benign, likely-benign, not specified, Charcot-Marie-Tooth, Type 2 128,726,339(+) G/T 5_prime_UTR_variant
rs11549750 likely-benign, Charcot-Marie-Tooth, Type 2 128,813,611(+) A/G 3_prime_UTR_variant
rs11549756 uncertain-significance, Charcot-Marie-Tooth, Type 2 128,806,468(+) C/G/T coding_sequence_variant, missense_variant
rs121909078 pathogenic, not-provided, Charcot-Marie-Tooth disease, axonal, type 2b, not provided, Charcot-Marie-Tooth disease 2B (CMT2B) [MIM:600882] 128,806,576(+) C/T coding_sequence_variant, missense_variant

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)

Additional Variant Information 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: HGMD, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
charcot-marie-tooth disease, axonal, type 2b
  • cmt2b
vici syndrome
  • vicis
charcot-marie-tooth disease
  • peroneal muscular atrophy
choroideremia
  • choroidal sclerosis
yunis-varon syndrome
  • yvs
- 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.

Additional Disease Information for RAB7A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 JP … Ioannou YA (Genomics 1997) 2 3 4 22 58
  2. Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation. (PMID: 19651702) Rotthier A … Timmerman V (Brain : a journal of neurology 2009) 3 22 44 58
  3. A novel RAB7 mutation associated with ulcero-mutilating neuropathy. (PMID: 15455439) Houlden H … Ginsberg L (Annals of neurology 2004) 3 4 22 58
  4. Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy. (PMID: 12545426) Verhoeven K … Timmerman V (American journal of human genetics 2003) 3 4 22 58
  5. Human VPS34 and p150 are Rab7 interacting partners. (PMID: 14617358) Stein MP … Wandinger-Ness A (Traffic (Copenhagen, Denmark) 2003) 3 4 22 58

Products for RAB7A Gene

  • Addgene plasmids for RAB7A

Sources for RAB7A Gene

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