This gene encodes a member of a subfamily of RAS small guanosine triphosphate (GTP)-binding proteins that regulate membrane trafficking. The encoded protein may be involved in endosome-to-Golgi transport. [provided by RefSeq, Jan 2010] See more...

Aliases for RAB9B Gene

Aliases for RAB9B Gene

  • RAB9B, Member RAS Oncogene Family 2 3 5
  • RAB9L 2 3 4
  • Ras-Related Protein Rab-9B 3 4
  • Rab-9L 3 4
  • Ras-Associated Protein RAB9-Like 3
  • Ras-Associated Protein 9B 3
  • Rab-9-Like Protein 4
  • RAB9B 5

External Ids for RAB9B Gene

Previous GeneCards Identifiers for RAB9B Gene

  • GC0XM098381
  • GC0XM099989
  • GC0XM101064
  • GC0XM101849
  • GC0XM102883
  • GC0XM102966
  • GC0XM103077
  • GC0XM092733
  • GC0XM103822

Summaries for RAB9B Gene

Entrez Gene Summary for RAB9B Gene

  • This gene encodes a member of a subfamily of RAS small guanosine triphosphate (GTP)-binding proteins that regulate membrane trafficking. The encoded protein may be involved in endosome-to-Golgi transport. [provided by RefSeq, Jan 2010]

GeneCards Summary for RAB9B Gene

RAB9B (RAB9B, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB9B include Pelizaeus-Merzbacher Disease and Spastic Paraplegia 2, X-Linked. Among its related pathways are Retrograde transport at the Trans-Golgi-Network and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include GTP binding and GDP binding. An important paralog of this gene is RAB9A.

UniProtKB/Swiss-Prot Summary for RAB9B Gene

  • Involved in the transport of proteins between the endosomes and the trans Golgi network.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RAB9B Gene

Genomics for RAB9B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RAB9B 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
GH0XJ103917 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 254.4 -86.7 -86744 3.2 BCLAF1 ZNF654 ZNF341 CTCF ELF1 SP2 SMC3 GABPB1 SMARCA5 SIN3A RAB9B ENSG00000288597 HSALNG0139335-001 HSALNG0139335-002 TMSB15B TMSB15B-AS1 lnc-TMSB15B-1 H2BW2 H2BW3P SLC25A53
GH0XJ103831 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +0.3 257 1.6 ZNF341 SIN3A ZNF610 SP2 KLF16 ZNF189 CTCF NRF1 GLIS1 L3MBTL2 RAB9B H2BW3P HSALNG0139334 PLP1 ENSG00000288597
GH0XJ103828 Promoter/Enhancer 0.6 EPDnew ENCODE 250.7 +3.5 3549 1.2 NR2F2 RAB9B PLP1 HSALNG0139334 ENSG00000288597
GH0XJ104106 Enhancer 0.2 Ensembl 3.8 -273.9 -273944 0.4 FAM199X RAB9B ZCCHC18 LOC101060236 ENSG00000269226 SLC25A53
GH0XJ103845 Enhancer 0.8 Ensembl ENCODE 0.4 -14.1 -14144 2.8 ZNF654 NFIC REST CEBPB TRIM22 CTCF RAD21 SMC3 IKZF1 RB1 H2BW2 H2BW3P FAM199X RNA5SP511 RAB9B ENSG00000288597 HSALNG0139335-001 TMSB15B TMSB15B-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RAB9B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RAB9B

Top Transcription factor binding sites by QIAGEN in the RAB9B gene promoter:
  • aMEF-2
  • CREB
  • deltaCREB
  • Evi-1
  • MEF-2
  • MEF-2A
  • Meis-1
  • Meis-1a
  • Meis-1b
  • PPAR-alpha

Genomic Locations for RAB9B Gene

Latest Assembly
chrX:103,776,324-103,832,257
(GRCh38/hg38)
Size:
55,934 bases
Orientation:
Minus strand

Previous Assembly
chrX:103,031,252-103,087,187
(GRCh37/hg19 by Entrez Gene)
Size:
55,936 bases
Orientation:
Minus strand

chrX:103,077,252-103,087,158
(GRCh37/hg19 by Ensembl)
Size:
9,907 bases
Orientation:
Minus strand

Genomic View for RAB9B Gene

Genes around RAB9B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAB9B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAB9B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAB9B Gene

Proteins for RAB9B Gene

  • Protein details for RAB9B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NP90-RAB9B_HUMAN
    Recommended name:
    Ras-related protein Rab-9B
    Protein Accession:
    Q9NP90
    Secondary Accessions:
    • B2R8M0
    • Q52LX2

    Protein attributes for RAB9B Gene

    Size:
    201 amino acids
    Molecular mass:
    22719 Da
    Quaternary structure:
    • Interacts (GTP-bound form) with SGSM1; the GDP-bound form has much lower affinity for SGSM1 (PubMed:22637480). The GTP-bound form but not the GDP-bound form interacts with HPS4 and the BLOC-3 complex (heterodimer of HPS1 and HPS4) but does not interact with HPS1 alone (PubMed:20048159).

    Three dimensional structures from OCA and Proteopedia for RAB9B Gene

neXtProt entry for RAB9B Gene

Post-translational modifications for RAB9B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RAB9B Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for RAB9B
  • Boster Bio Antibodies for RAB9B
  • Santa Cruz Biotechnology (SCBT) Antibodies for RAB9B

No data available for DME Specific Peptides for RAB9B Gene

Domains & Families for RAB9B Gene

Gene Families for RAB9B Gene

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

Protein Domains for RAB9B Gene

InterPro:
Blocks:
  • Transforming protein P21 RAS signature

Suggested Antigen Peptide Sequences for RAB9B Gene

GenScript: Design optimal peptide antigens:
  • Rab-9-like protein (RAB9B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NP90

UniProtKB/Swiss-Prot:

RAB9B_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 RAB9B: view

Function for RAB9B Gene

Molecular function for RAB9B Gene

UniProtKB/Swiss-Prot Function:
Involved in the transport of proteins between the endosomes and the trans Golgi network.

Gene Ontology (GO) - Molecular Function for RAB9B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity IEA --
GO:0005515 protein binding IPI 19490898
GO:0005525 GTP binding IEA --
GO:0019003 GDP binding IDA 20937701
genes like me logo Genes that share ontologies with RAB9B: view
genes like me logo Genes that share phenotypes with RAB9B: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAB9B

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RAB9B Gene

Localization for RAB9B Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAB9B Gene

Cell membrane. Lipid-anchor. Cytoplasmic side. Cytoplasmic vesicle, phagosome. Cytoplasmic vesicle, phagosome membrane. Lipid-anchor. Cytoplasmic side. Note=Recruited to phagosomes containing S. aureus or M. tuberculosis.

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 RAB9B gene
Compartment Confidence
plasma membrane 4
endosome 4
cytosol 4
lysosome 3
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
golgi apparatus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for RAB9B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IBA 21873635
GO:0005770 late endosome IBA 21873635
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with RAB9B: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RAB9B Gene

Pathways & Interactions for RAB9B Gene

genes like me logo Genes that share pathways with RAB9B: view

Pathways by source for RAB9B Gene

1 Qiagen pathway for RAB9B Gene
  • Epithelial Tight Junctions

Gene Ontology (GO) - Biological Process for RAB9B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015031 protein transport IEA --
GO:0032482 Rab protein signal transduction IEA --
GO:0042147 retrograde transport, endosome to Golgi IBA 21873635
GO:0043312 neutrophil degranulation TAS --
genes like me logo Genes that share ontologies with RAB9B: view

No data available for SIGNOR curated interactions for RAB9B Gene

Drugs & Compounds for RAB9B Gene

No Compound Related Data Available

Transcripts for RAB9B Gene

mRNA/cDNA for RAB9B Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAB9B

Alternative Splicing Database (ASD) splice patterns (SP) for RAB9B Gene

No ASD Table

Relevant External Links for RAB9B Gene

GeneLoc Exon Structure for
RAB9B

Expression for RAB9B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RAB9B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RAB9B Gene

This gene is overexpressed in Brain (24.6), Frontal cortex (8.1), Fetal testis (7.9), and Fetal heart (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RAB9B Gene



Protein tissue co-expression partners for RAB9B Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RAB9B

SOURCE GeneReport for Unigene cluster for RAB9B Gene:

Hs.522736

mRNA Expression by UniProt/SwissProt for RAB9B Gene:

Q9NP90-RAB9B_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for RAB9B Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with RAB9B: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for RAB9B Gene

Orthologs for RAB9B Gene

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

Orthologs for RAB9B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RAB9B 29 30
  • 99.83 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RAB9B 30
  • 95 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia RAB9B 30
  • 95 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia RAB9B 29 30
  • 94.03 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RAB9B 29 30
  • 94.03 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Rab9b 29 16 30
  • 92.04 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rab9b 29
  • 91.54 (n)
Chicken
(Gallus gallus)
Aves RAB9B 29 30
  • 80.76 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RAB9B 30
  • 86 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rab9b 29
  • 74.46 (n)
Zebrafish
(Danio rerio)
Actinopterygii rab9b 29 30
  • 68.82 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1580 29
Fruit Fly
(Drosophila melanogaster)
Insecta Rab7 31
  • 57 (a)
Rab9 29 30
  • 56.63 (n)
OneToMany
CG9994 31
  • 54 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009846 29
  • 53.87 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YPT7 30
  • 46 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 58 (a)
OneToMany
Species where no ortholog for RAB9B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • 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)
  • Worm (Caenorhabditis elegans)

Evolution for RAB9B Gene

ENSEMBL:
Gene Tree for RAB9B (if available)
TreeFam:
Gene Tree for RAB9B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RAB9B: view image
Alliance of Genome Resources:
Additional Orthologs for RAB9B

Paralogs for RAB9B Gene

Pseudogenes.org Pseudogenes for RAB9B Gene

genes like me logo Genes that share paralogs with RAB9B: view

Variants for RAB9B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RAB9B Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
1001821 Uncertain Significance: Hereditary spastic paraplegia 2 103,788,475(-) G/A
NM_000533.5(PLP1):c.661G>A (p.Gly221Ser)
MISSENSE
1012883 Uncertain Significance: not provided 103,787,479(-) C/A
NM_000533.5(PLP1):c.454-319C>A
INTRON
1012884 Likely Benign: not provided 103,787,938(-) C/A
NM_000533.5(PLP1):c.594C>A (p.Gly198=)
SYNONYMOUS
1021972 Uncertain Significance: Hereditary spastic paraplegia 2 103,790,552(-) A/G
NM_000533.5(PLP1):c.788A>G (p.Tyr263Cys)
MISSENSE
1023623 Uncertain Significance: Hereditary spastic paraplegia 2 103,786,504(-) TTTC/T
NM_000533.5(PLP1):c.232TTC[2] (p.Phe80del)
INFRAME_DELETION

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RAB9B Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for RAB9B Gene

Variant ID Type Subtype PubMed ID
esv2758880 CNV gain 17122850

Variation tolerance for RAB9B Gene

Residual Variation Intolerance Score: 30% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.27; 5.94% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RAB9B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAB9B
Leiden Open Variation Database (LOVD)
RAB9B

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAB9B Gene

Disorders for RAB9B Gene

MalaCards: The human disease database

(6) MalaCards diseases for RAB9B Gene - From: CVR, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search RAB9B in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RAB9B

genes like me logo Genes that share disorders with RAB9B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RAB9B Gene

Publications for RAB9B Gene

  1. cDNA cloning of a new member of the Ras superfamily, RAB9-like, on the human chromosome Xq22.1-q22.3 region. (PMID: 11043518) Seki N … Saito T (Journal of human genetics 2000) 2 3 4
  2. RUTBC2 protein, a Rab9A effector and GTPase-activating protein for Rab36. (PMID: 22637480) Nottingham RM … Pfeffer SR (The Journal of biological chemistry 2012) 3 4
  3. Rab GTPases regulating phagosome maturation are differentially recruited to mycobacterial phagosomes. (PMID: 21255211) Seto S … Koide Y (Traffic (Copenhagen, Denmark) 2011) 3 4
  4. Assembly of the biogenesis of lysosome-related organelles complex-3 (BLOC-3) and its interaction with Rab9. (PMID: 20048159) Kloer DP … Bonifacino JS (The Journal of biological chemistry 2010) 3 4
  5. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4

Products for RAB9B Gene

Sources for RAB9B Gene