Aliases for RAB36 Gene

Aliases for RAB36 Gene

  • RAB36, Member RAS Oncogene Family 2 3 5
  • Ras-Related Protein Rab-36 3 4
  • Small GTP-Binding Protein Rab36 3

External Ids for RAB36 Gene

Previous GeneCards Identifiers for RAB36 Gene

  • GC22P020186
  • GC22P021812
  • GC22P023487
  • GC22P006455

Summaries for RAB36 Gene

GeneCards Summary for RAB36 Gene

RAB36 (RAB36, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB36 include Thrombocytopenia-Absent Radius Syndrome and Griscelli Syndrome, Type 3. Among its related pathways are Metabolism of proteins and Intra-Golgi traffic. Gene Ontology (GO) annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is RAB34.

UniProtKB/Swiss-Prot Summary for RAB36 Gene

  • Protein transport. Probably involved in vesicular traffic (By similarity).

Gene Wiki entry for RAB36 Gene

Additional gene information for RAB36 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RAB36 Gene

Genomics for RAB36 Gene

GeneHancer (GH) Regulatory Elements for RAB36 Gene

Promoters and enhancers for RAB36 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
GH22J023144 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +1.1 1088 3.9 ZNF217 EP300 SIN3A SP1 PHF8 FOS ZFX ZIC2 ZBTB10 ZBTB26 RSPH14 RAB36 BCR GNAZ HSALNG0134379
GH22J023145 Enhancer 0.3 ENCODE 500.7 -1.0 -977 0.2 ZNF121 RAB36 RSPH14 ENSG00000275635
GH22J023178 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.6 +38.3 38319 10.5 ZBTB40 EP300 CTCF TEAD4 ZFX ZIC2 GABPA ZBTB26 RELA MEF2C RSPH14 BCR NONHSAG033459.2-001 RAB36 RN7SL268P IGLV1-40 BCRP8 lnc-RSPH14-2 NONHSAG033459.2-002
GH22J023278 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 18.2 +135.7 135719 5.8 CTCF JUND FOS GABPA TARDBP REST RUNX1 RAD21 CTBP1 ZBTB7A RAB36 FBXW4P1 ZNF70 RSPH14 BCR piR-46870-002 NONHSAG033459.2-002 piR-50721-002
GH22J023240 Promoter/Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas dbSUPER 16.7 +98.1 98055 5.8 USF1 TEAD4 CTCF ZIC2 GABPA TRIM28 POLR2A RXRA CBFB USF2 FBXW4P1 RAB36 RSPH14 CABIN1 NONHSAG033459.2-002 BCR NONHSAG033459.2-001
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RAB36 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RAB36

Top Transcription factor binding sites by QIAGEN in the RAB36 gene promoter:
  • AML1a
  • c-Myb
  • Egr-1
  • Elk-1
  • ER-alpha
  • FOXJ2 (long isoform)
  • GCNF
  • GCNF-1
  • GCNF-2
  • TBP

Genomic Locations for RAB36 Gene

Genomic Locations for RAB36 Gene
chr22:23,145,326-23,169,285
(GRCh38/hg38)
Size:
23,960 bases
Orientation:
Plus strand
chr22:23,487,513-23,506,537
(GRCh37/hg19)
Size:
19,025 bases
Orientation:
Plus strand

Genomic View for RAB36 Gene

Genes around RAB36 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAB36 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAB36 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAB36 Gene

Proteins for RAB36 Gene

  • Protein details for RAB36 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95755-RAB36_HUMAN
    Recommended name:
    Ras-related protein Rab-36
    Protein Accession:
    O95755
    Secondary Accessions:
    • Q2M390
    • Q7Z4A9
    • Q9UHP5

    Protein attributes for RAB36 Gene

    Size:
    333 amino acids
    Molecular mass:
    36322 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for RAB36 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RAB36 Gene

Post-translational modifications for RAB36 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RAB36 Gene

Domains & Families for RAB36 Gene

Gene Families for RAB36 Gene

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

Protein Domains for RAB36 Gene

Blocks:
  • Ras small GTPase, Ras type
  • ADP-ribosylation factor
  • Transforming protein P21 RAS signature
  • Ras small GTPase, Rho type
  • GTP-binding nuclear protein Ran
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RAB36 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ51216, highly similar to Ras-related protein Rab-36 (B4DJF4_HUMAN)
  • Ras-related protein Rab-36 (RAB36_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O95755

UniProtKB/Swiss-Prot:

RAB36_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 RAB36: view

Function for RAB36 Gene

Molecular function for RAB36 Gene

UniProtKB/Swiss-Prot Function:
Protein transport. Probably involved in vesicular traffic (By similarity).
GENATLAS Biochemistry:
RAB6,Ras oncogene superfamily member,involved in vesicular trafficking associated with intra-Golgi transport in a region deleted in malignant rhabdoid tumors but not involved in tumorigenesis,potential contributor,like RAB6

Phenotypes From GWAS Catalog for RAB36 Gene

Gene Ontology (GO) - Molecular Function for RAB36 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity IEA,IBA 21873635
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with RAB36: view
genes like me logo Genes that share phenotypes with RAB36: view

Animal Models for RAB36 Gene

MGI Knock Outs for RAB36:
  • Rab36 Rab36<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

miRNA for RAB36 Gene

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RAB36 Gene

Localization for RAB36 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAB36 Gene

Golgi apparatus membrane; Lipid-anchor.

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 RAB36 gene
Compartment Confidence
golgi apparatus 5
cytosol 3
mitochondrion 2
endosome 2
plasma membrane 1
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1
lysosome 1
extracellular 0
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RAB36 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005794 Golgi apparatus TAS 9920784
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with RAB36: view

Pathways & Interactions for RAB36 Gene

genes like me logo Genes that share pathways with RAB36: view

Gene Ontology (GO) - Biological Process for RAB36 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IBA 21873635
GO:0015031 protein transport IEA --
GO:0032482 Rab protein signal transduction IBA 21873635
genes like me logo Genes that share ontologies with RAB36: view

No data available for SIGNOR curated interactions for RAB36 Gene

Drugs & Compounds for RAB36 Gene

No Compound Related Data Available

Transcripts for RAB36 Gene

mRNA/cDNA for RAB36 Gene

3 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RAB36 Gene

No ASD Table

Relevant External Links for RAB36 Gene

GeneLoc Exon Structure for
RAB36

Expression for RAB36 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RAB36 Gene

Protein differential expression in normal tissues from HIPED for RAB36 Gene

This gene is overexpressed in Retina (35.8) and Fetal ovary (25.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RAB36 Gene



Protein tissue co-expression partners for RAB36 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RAB36

SOURCE GeneReport for Unigene cluster for RAB36 Gene:

Hs.369557

mRNA Expression by UniProt/SwissProt for RAB36 Gene:

O95755-RAB36_HUMAN
Tissue specificity: Ubiquitously present in all tissues examined.
genes like me logo Genes that share expression patterns with RAB36: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for RAB36 Gene

Orthologs for RAB36 Gene

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

Orthologs for RAB36 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RAB36 31 30
  • 99.3 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RAB36 31 30
  • 86.89 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RAB36 31 30
  • 86.39 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rab36 30
  • 85.79 (n)
mouse
(Mus musculus)
Mammalia Rab36 17 31 30
  • 85.66 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RAB36 31
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves RAB36 31 30
  • 70.43 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rab36 30
  • 66.28 (n)
zebrafish
(Danio rerio)
Actinopterygii rab36 31 30
  • 63.16 (n)
OneToOne
Dr.15626 30
fruit fly
(Drosophila melanogaster)
Insecta RabX5 31 30
  • 55.17 (n)
OneToMany
CG7980 32
  • 52 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006035 30
  • 53.2 (n)
worm
(Caenorhabditis elegans)
Secernentea Y71H2AM.12 31
  • 36 (a)
ManyToMany
C56E6.2 31
  • 23 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YPT6 31
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 45 (a)
OneToMany
Species where no ortholog for RAB36 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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 RAB36 Gene

ENSEMBL:
Gene Tree for RAB36 (if available)
TreeFam:
Gene Tree for RAB36 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RAB36: view image

Paralogs for RAB36 Gene

genes like me logo Genes that share paralogs with RAB36: view

Variants for RAB36 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RAB36 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
rs5759612 - p.Asn308Asp
rs9624036 - p.Pro50Leu
rs9624038 - p.Glu320Lys

Additional dbSNP identifiers (rs#s) for RAB36 Gene

Structural Variations from Database of Genomic Variants (DGV) for RAB36 Gene

Variant ID Type Subtype PubMed ID
esv34158 CNV loss 18971310
esv3647392 CNV gain 21293372
esv3647394 CNV loss 21293372
esv3893457 CNV gain 25118596
nsv1061433 CNV gain+loss 25217958
nsv1066891 CNV gain 25217958
nsv521695 CNV loss 19592680
nsv588512 CNV loss 21841781
nsv7350 OTHER inversion 18451855

Variation tolerance for RAB36 Gene

Residual Variation Intolerance Score: 78.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.94; 49.13% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RAB36 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAB36

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAB36 Gene

Disorders for RAB36 Gene

MalaCards: The human disease database

(2) MalaCards diseases for RAB36 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search RAB36 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RAB36

genes like me logo Genes that share disorders with RAB36: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RAB36 Gene

Publications for RAB36 Gene

  1. Cloning and characterization of a novel Rab-family gene, Rab36, within the region at 22q11.2 that is homozygously deleted in malignant rhabdoid tumors. (PMID: 9920784) Mori T … Inazawa J (Biochemical and biophysical research communications 1999) 2 3 4 54
  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 54
  3. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 3 4 54
  4. Isolation of genes from the rhabdoid tumor deletion region in chromosome band 22q11.2. (PMID: 10607907) Zhou J … Biegel JA (Gene 2000) 3 4 54
  5. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 2 3 54

Products for RAB36 Gene

Sources for RAB36 Gene