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Aliases for RAB12 Gene

Aliases for RAB12 Gene

  • RAB12, Member RAS Oncogene Family 2 3 5

External Ids for RAB12 Gene

Summaries for RAB12 Gene

GeneCards Summary for RAB12 Gene

RAB12 (RAB12, Member RAS Oncogene Family) is a Protein Coding gene. GO annotations related to this gene include GTP binding and GDP binding. An important paralog of this gene is RAB37.

UniProtKB/Swiss-Prot for RAB12 Gene

  • The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. That Rab may play a role in protein transport from recycling endosomes to lysosomes regulating, for instance, the degradation of the transferrin receptor. Involved in autophagy (By similarity).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAB12 Gene

Genomics for RAB12 Gene

Regulatory Elements for RAB12 Gene

Promoters for RAB12 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RAB12 on UCSC Golden Path with GeneCards custom track

Genomic Location for RAB12 Gene

Chromosome:
18
Start:
8,609,445 bp from pter
End:
8,639,383 bp from pter
Size:
29,939 bases
Orientation:
Plus strand

Genomic View for RAB12 Gene

Genes around RAB12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAB12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAB12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAB12 Gene

Proteins for RAB12 Gene

  • Protein details for RAB12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6IQ22-RAB12_HUMAN
    Recommended name:
    Ras-related protein Rab-12
    Protein Accession:
    Q6IQ22
    Secondary Accessions:
    • A6NEF5
    • Q4KMQ3

    Protein attributes for RAB12 Gene

    Size:
    244 amino acids
    Molecular mass:
    27248 Da
    Quaternary structure:
    • Interacts with RABIF and OPTN.
    SequenceCaution:
    • Sequence=AAH71600.2; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305}; Sequence=AAH98407.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305}; Sequence=BC050338; Type=Frameshift; Positions=195; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RAB12 Gene

neXtProt entry for RAB12 Gene

Proteomics data for RAB12 Gene at MOPED

Post-translational modifications for RAB12 Gene

  • Ubiquitination at Lys 172
  • Modification sites at PhosphoSitePlus

Other Protein References for RAB12 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RAB12 Gene

Domains & Families for RAB12 Gene

Gene Families for RAB12 Gene

Protein Domains for RAB12 Gene

Suggested Antigen Peptide Sequences for RAB12 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6IQ22

UniProtKB/Swiss-Prot:

RAB12_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 RAB12: view

Function for RAB12 Gene

Molecular function for RAB12 Gene

UniProtKB/Swiss-Prot EnzymeRegulation:
Rab activation is generally mediated by a guanine exchange factor (GEF), while inactivation through hydrolysis of bound GTP is catalyzed by a GTPase activating protein (GAP) (By similarity). That Rab is activated by DENND3, a guanine exchange factor.
UniProtKB/Swiss-Prot Function:
The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. That Rab may play a role in protein transport from recycling endosomes to lysosomes regulating, for instance, the degradation of the transferrin receptor. Involved in autophagy (By similarity).
genes like me logo Genes that share phenotypes with RAB12: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RAB12 Gene

Localization for RAB12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAB12 Gene

Recycling endosome membrane; Lipid-anchor; Cytoplasmic side. Lysosome membrane; Lipid-anchor; Cytoplasmic side. Golgi apparatus membrane. Cytoplasmic vesicle, autophagosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RAB12 Gene COMPARTMENTS Subcellular localization image for RAB12 gene
Compartment Confidence
lysosome 5
vacuole 5
endosome 4
cytosol 3
golgi apparatus 3
nucleus 2
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for RAB12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031410 cytoplasmic vesicle IEA --
GO:0055038 recycling endosome membrane IEA,ISS --
genes like me logo Genes that share ontologies with RAB12: view

Pathways & Interactions for RAB12 Gene

SuperPathways for RAB12 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RAB12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006914 autophagy IEA --
GO:0007264 small GTPase mediated signal transduction IEA --
GO:0008333 endosome to lysosome transport IEA,ISS --
GO:0016239 positive regulation of macroautophagy IEA --
genes like me logo Genes that share ontologies with RAB12: view

No data available for Pathways by source and SIGNOR curated interactions for RAB12 Gene

Drugs & Compounds for RAB12 Gene

No Compound Related Data Available

Transcripts for RAB12 Gene

mRNA/cDNA for RAB12 Gene

Unigene Clusters for RAB12 Gene

RAB12, member RAS oncogene family:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RAB12 Gene

No ASD Table

Relevant External Links for RAB12 Gene

GeneLoc Exon Structure for
RAB12
ECgene alternative splicing isoforms for
RAB12

Expression for RAB12 Gene

mRNA expression in normal human tissues for RAB12 Gene

mRNA differential expression in normal tissues according to GTEx for RAB12 Gene

This gene is overexpressed in Muscle - Skeletal (x5.9).

Protein differential expression in normal tissues from HIPED for RAB12 Gene

This gene is overexpressed in Brain (17.1) and Breast (15.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for RAB12 Gene



SOURCE GeneReport for Unigene cluster for RAB12 Gene Hs.270074

genes like me logo Genes that share expression patterns with RAB12: view

Protein tissue co-expression partners for RAB12 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for RAB12 Gene

Orthologs for RAB12 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for RAB12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RAB12 35
  • 99.59 (n)
  • 100 (a)
RAB12 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RAB12 36
  • 98 (a)
OneToOne
RAB12 35
  • 91.39 (n)
  • 97.13 (a)
dog
(Canis familiaris)
Mammalia RAB12 35
  • 94.44 (n)
  • 100 (a)
RAB12 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rab12 16
Rab12 35
  • 89.3 (n)
  • 95.06 (a)
Rab12 36
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RAB12 36
  • 70 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rab12 35
  • 89.03 (n)
  • 95.06 (a)
chicken
(Gallus gallus)
Aves RAB12 35
  • 87.02 (n)
  • 93.44 (a)
RAB12 36
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RAB12 36
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rab12 35
  • 83.33 (n)
  • 95.09 (a)
Str.12902 35
zebrafish
(Danio rerio)
Actinopterygii rab12 36
  • 85 (a)
OneToOne
Dr.15011 35
rab12 35
  • 75.23 (n)
  • 85.78 (a)
worm
(Caenorhabditis elegans)
Secernentea K02E10.1 36
  • 32 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YPT1 36
  • 42 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 37 (a)
OneToOne
Species with no ortholog for RAB12:
  • A. gosspyii yeast (Ashbya gossypii)
  • 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)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RAB12 Gene

ENSEMBL:
Gene Tree for RAB12 (if available)
TreeFam:
Gene Tree for RAB12 (if available)

Paralogs for RAB12 Gene

genes like me logo Genes that share paralogs with RAB12: view

Variants for RAB12 Gene

Sequence variations from dbSNP and Humsavar for RAB12 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs182680 -- 8,621,432(+) TAGAT(A/G)TGGTA intron-variant
rs321656 -- 8,620,507(+) TGTGT(C/G)CTGGG intron-variant
rs321657 -- 8,620,325(+) CCAGA(A/C/G)TAATT intron-variant
rs321659 -- 8,614,881(-) TTTgg(C/T)tgggg intron-variant
rs321662 -- 8,638,475(-) ACTGG(A/G)GTAAT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for RAB12 Gene

Variant ID Type Subtype PubMed ID
nsv2200 CNV Loss 18451855
esv2716756 CNV Deletion 23290073
esv5209 CNV Deletion 18987735
esv2716757 CNV Deletion 23290073
esv2656851 CNV Deletion 23128226
esv1001194 CNV Deletion 20482838

Variation tolerance for RAB12 Gene

Residual Variation Intolerance Score: 44.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.63; 13.58% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RAB12 Gene

HapMap Linkage Disequilibrium report
RAB12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAB12 Gene

Disorders for RAB12 Gene

Relevant External Links for RAB12

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RAB12

No disorders were found for RAB12 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RAB12 Gene

Publications for RAB12 Gene

  1. Family-wide characterization of the DENN domain Rab GDP-GTP exchange factors. (PMID: 20937701) Yoshimura S. … Barr F.A. (J. Cell Biol. 2010) 3 4 67
  2. Rab12 localizes to Shiga toxin-induced plasma membrane invaginations and controls toxin transport. (PMID: 24703428) Rydell G.E. … Johannes L. (Traffic 2014) 3
  3. M98K-OPTN induces transferrin receptor degradation and RAB12-mediated autophagic death in retinal ganglion cells. (PMID: 23357852) Sirohi K. … Swarup G. (Autophagy 2013) 3
  4. Pericentrosomal targeting of Rab6 secretory vesicles by Bicaudal-D-related protein 1 (BICDR-1) regulates neuritogenesis. (PMID: 20360680) Schlager M.A. … Hoogenraad C.C. (EMBO J. 2010) 3
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3

Products for RAB12 Gene

Sources for RAB12 Gene

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