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Aliases for RAB12 Gene

Aliases for RAB12 Gene

  • RAB12, Member RAS Oncogene Family 2 3 5
  • Ras-Related Protein Rab-12 3 4
  • Putative Ras-Related Protein Rab-12 3

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. Among its related pathways are Vesicle-mediated transport and RAB geranylgeranylation. Gene Ontology (GO) annotations related to this gene include GTP binding and GDP binding. An important paralog of this gene is RAB3C.

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).

Additional gene information for RAB12 Gene

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

Genomics for RAB12 Gene

GeneHancer (GH) Regulatory Elements for RAB12 Gene

Promoters and enhancers for RAB12 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
GH18J008607 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 604.8 +0.1 135 4.1 SP1 ELF3 ZFX ZNF148 NKRF MLLT1 ZNF687 SP7 TRIM24 POLR2A RAB12 ENSG00000266708
GH18J008085 Promoter 0.5 EPDnew 600 -523.7 -523668 0.1 RAB12 ENSG00000273368 ENSG00000199856 GC18M007966 PTPRM
GH18J008717 Enhancer 0.9 Ensembl ENCODE dbSUPER 5.1 +107.7 107664 3 SP1 TCF7L2 ZNF341 ZXDB ATF2 ZNF143 EGR2 RAB12 ENSG00000252319 GACAT2 MTCL1
GH18J009100 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 1.8 +496.5 496457 9.8 ZFX ELF3 MNT ZNF148 NKRF MLLT1 ZNF121 RERE POLR2A ZNF687 NDUFV2 ANKRD12 TWSG1 ENSG00000263847 ENSG00000266708 PPP4R1 RAB12 ENSG00000265257
GH18J008629 Enhancer 0.3 Ensembl 13.3 +20.3 20264 0.2 PRDM4 RAB12 ENSG00000266708
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RAB12 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RAB12 gene promoter:
  • c-Ets-1
  • CUTL1
  • E47
  • Egr-1
  • Egr-3
  • FOXJ2
  • FOXJ2 (long isoform)
  • POU2F1
  • RORalpha1
  • STAT3

Genomic Locations for RAB12 Gene

Genomic Locations for RAB12 Gene
chr18:8,609,437-8,639,383
(GRCh38/hg38)
Size:
29,947 bases
Orientation:
Plus strand
chr18:8,609,443-8,639,380
(GRCh37/hg19)
Size:
29,938 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

Post-translational modifications for RAB12 Gene

  • Ubiquitination at posLast=172172
  • 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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RAB12 Gene

Suggested Antigen Peptide Sequences for RAB12 Gene

GenScript: Design optimal peptide antigens:
  • Ras-related protein Rab-12 (RAB12_HUMAN)

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 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).
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.

Phenotypes From GWAS Catalog for RAB12 Gene

Gene Ontology (GO) - Molecular Function for RAB12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity IBA 21873635
GO:0005515 protein binding IPI 26824392
GO:0005525 GTP binding IEA --
GO:0019003 GDP binding IDA 20937701
genes like me logo Genes that share ontologies with RAB12: view
genes like me logo Genes that share phenotypes with RAB12: view

Animal Model Products

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for RAB12 - Now 50% OFF >
  • * RAB12 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * RAB12 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
  • Addgene plasmids for RAB12

No data available for Enzyme Numbers (IUBMB) , 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
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 RAB12 gene
Compartment Confidence
cytosol 5
endosome 4
lysosome 4
endoplasmic reticulum 3
golgi apparatus 3
cytoskeleton 1
nucleus 1
extracellular 0
mitochondrion 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RAB12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IBA 21873635
GO:0005764 lysosome ISS --
GO:0005765 lysosomal membrane IEA --
GO:0005768 endosome IEA --
GO:0005776 autophagosome IEA --
genes like me logo Genes that share ontologies with RAB12: view

Pathways & Interactions for RAB12 Gene

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

Gene Ontology (GO) - Biological Process for RAB12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IBA 21873635
GO:0006888 ER to Golgi vesicle-mediated transport IBA 21873635
GO:0006914 autophagy IEA --
GO:0008333 endosome to lysosome transport ISS,IEA --
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with RAB12: view

No data available for 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

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(53) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Unigene Clusters for RAB12 Gene

RAB12, member RAS oncogene family:
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for RAB12 - Now 50% OFF >
  • * RAB12 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * RAB12 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
  • Addgene plasmids for RAB12

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for RAB12 Gene



Protein tissue co-expression partners for RAB12 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RAB12 Gene:

RAB12

SOURCE GeneReport for Unigene cluster for RAB12 Gene:

Hs.270074

Evidence on tissue expression from TISSUES for RAB12 Gene

  • Muscle(2.3)
  • Nervous system(2.3)
  • Heart(2)
genes like me logo Genes that share expression patterns with RAB12: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34
  • 99.59 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RAB12 35 34
  • 94.44 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RAB12 35 34
  • 91.39 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Rab12 17 35 34
  • 89.3 (n)
rat
(Rattus norvegicus)
Mammalia Rab12 34
  • 89.03 (n)
oppossum
(Monodelphis domestica)
Mammalia RAB12 35
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves RAB12 35 34
  • 87.02 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RAB12 35
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rab12 34
  • 83.33 (n)
Str.12902 34
zebrafish
(Danio rerio)
Actinopterygii rab12 35 34
  • 75.23 (n)
OneToOne
Dr.15011 34
worm
(Caenorhabditis elegans)
Secernentea K02E10.1 35
  • 32 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YPT1 35
  • 42 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 37 (a)
OneToOne
Species where no ortholog for RAB12 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for RAB12: view image

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 Variation AA Info Type
rs1000127084 -- 8,611,333(+) T/C genic_upstream_transcript_variant, intron_variant
rs1000149600 -- 8,620,136(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000197630 -- 8,609,212(+) A/G upstream_transcript_variant
rs1000548695 -- 8,629,539(+) G/A/T intron_variant, non_coding_transcript_variant
rs1000657917 -- 8,636,226(+) A/G genic_downstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
esv1001194 CNV deletion 20482838
esv2656851 CNV deletion 23128226
esv2716756 CNV deletion 23290073
esv2716757 CNV deletion 23290073
esv3555019 CNV deletion 23714750
esv5209 CNV loss 18987735
nsv1118779 CNV deletion 24896259
nsv2200 CNV deletion 18451855
nsv576426 CNV gain 21841781

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)

Additional Variant Information for RAB12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAB12
Human Gene Mutation Database (HGMD)
RAB12

SNP Genotyping and Copy Number Assay Products

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

Disorders for RAB12 Gene

Additional Disease Information for 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 FA (The Journal of cell biology 2010) 3 4 58
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  3. A PH-like domain of the Rab12 guanine nucleotide exchange factor DENND3 binds actin and is required for autophagy. (PMID: 29352104) Xu J … Gehring K (The Journal of biological chemistry 2018) 3 58
  4. The HIV-1 Tat protein recruits a ubiquitin ligase to reorganize the 7SK snRNP for transcriptional activation. (PMID: 29845934) Faust TB … Frankel AD (eLife 2018) 3 58
  5. Regulation of DENND3, the exchange factor for the small GTPase Rab12 through an intramolecular interaction. (PMID: 28249939) Xu J … McPherson PS (The Journal of biological chemistry 2017) 3 58

Products for RAB12 Gene

Sources for RAB12 Gene

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