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
  • RAB12 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. Among its related pathways are RAB GEFs exchange GTP for GDP on RABs and Metabolism of proteins. 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 Summary 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 , Rfam classification and piRNA Summary for RAB12 Gene

Genomics for RAB12 Gene

GeneHancer (GH) Regulatory Elements Pubs

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 CraniofacialAtlas 604.8 +0.1 144 4.1 SP1 ZNF512 LEF1 IKZF1 KDM1A CTCF POLR2A BACH1 ETV6 LARP7 RAB12 lnc-MTCL1-4 MTCL1
GH18J008085 Promoter 0.3 EPDnew 600 -523.7 -523659 0.1 RAB12 RF00994-424 piR-45012-243 PTPRM
GH18J009100 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 1.8 +496.0 495966 8.8 ARHGAP35 CREB1 PRDM10 ZNF629 REST TFE3 LEF1 POLR2A ZNF692 JUND NDUFV2 lnc-ANKRD12-2 ANKRD12 TWSG1 ENSG00000263847 ENSG00000266708 PPP4R1 RAB12 ENSG00000265257 NDUFV2-AS1-001
GH18J008711 Enhancer 0.9 Ensembl ENCODE dbSUPER 5.1 +105.8 105772 7.2 ZNF341 TCF7L2 EGR1 ZXDB YY1 ATF2 ZFP91 CHAMP1 ZNF143 ZBTB33 piR-60146-060 RAB12 ENSG00000252319 MTCL1 NDUFV2
GH18J008643 Enhancer 0.2 FANTOM5 15.7 +34.1 34148 0.3 HSALNG0119877 RAB12 ANKRD12 piR-59297-293 MTCL1
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RAB12

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
chr18:8,609,428-8,639,383
(GRCh38/hg38)
Size:
29,956 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 (PubMed:21194374). Interacts with OPTN (By similarity). Interacts with LRRK2; interaction facilitates phosphorylation of Ser-106 (PubMed:26824392). Interacts with GDI1, GDI2, CHM and CHML; these interactions are disrupted by phosphorylation on Ser-106 (PubMed:26824392, PubMed:29125462). Interacts with RILPL1 and RILPL2; these interactions are dependent on phosphorylation of Ser-106 (PubMed:26824392, PubMed:29125462).
    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; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RAB12 Gene

neXtProt entry for RAB12 Gene

Post-translational modifications for RAB12 Gene

  • Phosphorylation of Ser-106 in the switch II region by LRRK2 prevents the association of RAB regulatory proteins, including CHM, CHML and RAB GDP dissociation inhibitors GDI1 and GDI2.
  • Ubiquitination at Lys172
  • 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 --
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

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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
plasma membrane 4
endosome 4
lysosome 4
golgi apparatus 4
nucleus 2
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1

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 IEA --
GO:0005764 lysosome ISS --
GO:0005765 lysosomal membrane IEA --
GO:0005768 endosome IBA 21873635
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 --
GO:0006904 vesicle docking involved in exocytosis IBA 21873635
GO:0006914 autophagy IEA --
GO:0008333 endosome to lysosome transport IEA,ISS --
GO:0009306 protein secretion IBA 21873635
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 :
4 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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

Expression for RAB12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RAB12

SOURCE GeneReport for Unigene cluster for RAB12 Gene:

Hs.270074

Evidence on tissue expression from TISSUES for RAB12 Gene

  • Nervous system(2.8)
  • Muscle(2.8)
  • Heart(2.6)
  • Kidney(2.3)
  • Liver(2.2)
  • Skin(2.2)
  • Spleen(2.2)
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 30 31
  • 99.59 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RAB12 30 31
  • 94.44 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RAB12 30 31
  • 91.39 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Rab12 30 17 31
  • 89.3 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rab12 30
  • 89.03 (n)
Oppossum
(Monodelphis domestica)
Mammalia RAB12 31
  • 70 (a)
OneToOne
Chicken
(Gallus gallus)
Aves RAB12 30 31
  • 87.02 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RAB12 31
  • 89 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rab12 30
  • 83.33 (n)
Str.12902 30
Zebrafish
(Danio rerio)
Actinopterygii rab12 30 31
  • 75.23 (n)
OneToOne
Dr.15011 30
Worm
(Caenorhabditis elegans)
Secernentea K02E10.1 31
  • 32 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YPT1 31
  • 42 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 37 (a)
OneToOne
Species where no ortholog for RAB12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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

Additional dbSNP identifiers (rs#s) for RAB12 Gene

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

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RAB12 Gene

Disorders for RAB12 Gene

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. Phosphoproteomics reveals that Parkinson's disease kinase LRRK2 regulates a subset of Rab GTPases. (PMID: 26824392) Steger M … Mann M (eLife 2016) 3 4
  2. 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
  3. 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
  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
  5. 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

Products for RAB12 Gene

Sources for RAB12 Gene