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Aliases for RAB9A Gene
Aliases for RAB9A Gene
External Ids for RAB9A Gene
- HGNC: 9792
- NCBI Entrez Gene: 9367
- Ensembl: ENSG00000123595
- OMIM®: 300284
- UniProtKB/Swiss-Prot: P51151
Previous HGNC Symbols for RAB9A Gene
- RAB9
Previous GeneCards Identifiers for RAB9A Gene
- GC0XP012946
- GC0XP012527
- GC0XP013068
- GC0XP013466
- GC0XP013617
- GC0XP011465
Summaries for RAB9A Gene
GeneCards Summary for RAB9A Gene
RAB9A (RAB9A, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB9A include Simpson-Golabi-Behmel Syndrome, Type 2. Among its related pathways are wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF) 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 RAB9B.
UniProtKB/Swiss-Prot Summary for RAB9A Gene
-
Involved in the transport of proteins between the endosomes and the trans Golgi network. Involved in the recruitment of SGSM2 to melanosomes and is required for the proper trafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 to melanosomes in melanocytes.
Additional gene information for RAB9A Gene
- HGNC (9792)
- NCBI Entrez Gene (9367)
- Ensembl (ENSG00000123595)
- OMIM® (300284)
- UniProtKB/Swiss-Prot (P51151)
- Open Targets Platform(ENSG00000123595)
- Search for RAB9A at DataMed
- Search for RAB9A at HumanCyc
No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RAB9A Gene
Genomics for RAB9A Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for RAB9A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around RAB9A on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RAB9A
- Top Transcription factor binding sites by QIAGEN in the RAB9A gene promoter:
-
- AML1a
- AP-1
- AREB6
- Bach1
- c-Fos
- c-Jun
- FosB
- Fra-1
- LCR-F1
- Sp1
Genomic Locations for RAB9A Gene
Latest Assembly
- chrX:13,689,128-13,710,504
- (GRCh38/hg38)
- Size:
- 21,377 bases
- Orientation:
- Plus strand
Previous Assembly
- chrX:13,707,247-13,728,623
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 21,377 bases
- Orientation:
- Plus strand
- chrX:13,707,244-13,728,625
- (GRCh37/hg19 by Ensembl)
- Size:
- 21,382 bases
- Orientation:
- Plus strand
Genomic View for RAB9A Gene
Genes around RAB9A on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- Xp22.2 by HGNC
- Xp22.2 by Entrez Gene
- Xp22.2 by Ensembl
RAB9A Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for RAB9A Gene
Proteins for RAB9A Gene
-
Protein details for RAB9A Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P51151-RAB9A_HUMAN
- Recommended name:
- Ras-related protein Rab-9A
- Protein Accession:
- P51151
- A8K390
- Q6ICN1
Protein attributes for RAB9A Gene
- Size:
- 201 amino acids
- Molecular mass:
- 22838 Da
- Quaternary structure:
-
- Interacts (preferentially in its GTP-bound form) with GCC2 (via its GRIP domain) (PubMed:18243103, PubMed:16885419). Interacts (GTP-bound form) with SGSM1; the GDP-bound form has much lower affinity for SGSM1 (PubMed:22637480). Interacts with SGSM2 (PubMed:21808068). The GTP-bound form but not the GDP-bound form interacts with HPS4 and BLOC-3 complex (heterodimer of HPS1 and HPS4) but does not interact with HPS1 alone (PubMed:20048159).
Protein Expression for RAB9A Gene
Post-translational modifications for RAB9A Gene
Other Protein References for RAB9A Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- G Biosciences Immunotag™ Rab9 Antibody
-
Custom Antibody ServicesOriGene Antibodies for RAB9A
- Novus Biologicals Antibodies for RAB9A
-
Abcam antibodies for RAB9A
- Invitrogen Antibodies for RAB9A (AFLGC-Rab9a)
-
Biorbyt antibodies for RAB9A
-
Custom Antibody ServicesProSci Antibodies for RAB9A
-
Santa Cruz Biotechnology (SCBT) Antibodies for RAB9A
- Sino Biological Antibodies for RAB9A
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for RAB9A
- Origene Custom Protein Services for RAB9A
- antibodies-online: Show 8 available RAB9A Proteins ranked by validation data
- Compare Top RAB9A Proteins
-
Quality Products:
-
Abcam proteins for RAB9A
Assay products for research
No data available for DME Specific Peptides for RAB9A Gene
Domains & Families for RAB9A Gene
Gene Families for RAB9A Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for RAB9A Gene
- InterPro:
- Blocks:
-
- Transforming protein P21 RAS signature
- ProtoNet:
Suggested Antigen Peptide Sequences for RAB9A Gene
- GenScript: Design optimal peptide antigens:
-
- Ras-related protein Rab-9A (RAB9A_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P51151- Family:
-
- Belongs to the small GTPase superfamily. Rab family.
Function for RAB9A Gene
Molecular function for RAB9A Gene
- UniProtKB/Swiss-Prot Function:
- Involved in the transport of proteins between the endosomes and the trans Golgi network. Involved in the recruitment of SGSM2 to melanosomes and is required for the proper trafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 to melanosomes in melanocytes.
Phenotypes From GWAS Catalog for RAB9A Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0003924 | GTPase activity | TAS,IDA | 15263003 |
| GO:0005515 | protein binding | IPI | 15471887 |
| GO:0005525 | GTP binding | IDA | 15263003 |
| GO:0019003 | GDP binding | IDA | 15263003 |
Phenotypes for RAB9A Gene
- MGI mutant phenotypes for RAB9A:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for RAB9A:
-
- Decreased hepcidin::fluc mRNA expression
- no effect
- Decreased vaccinia virus (VACV) infection
- Increased shRNA abundance (Z-score > 2)
- Dynamic nuclei (hole, folded or small irregular)
- Decreased human papilloma virus 16 (HPV16) pseudovirus infection
- Resistant to vaccinia virus (VACV-A4L) infection
- Decreased viability with paclitaxel
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Negative genetic interaction between PTTG1-/- and PTTG1+/+
- Decreased shRNA abundance (Z-score < -2)
- Increased viability with MLN4924 (a NAE inhibitor)
- Elongated cells
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for RAB9A - Starting at $85 >
- * RAB9A CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for RAB9A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RAB9A
-
Santa Cruz Biotechnology (SCBT) CRISPR for RAB9A
miRNA for RAB9A Gene
- miRTarBase miRNAs that target RAB9A
-
- hsa-miR-6513-5p (MIRT521466)
- hsa-miR-5089-5p (MIRT521467)
- hsa-miR-6728-5p (MIRT521468)
- hsa-miR-769-3p (MIRT521469)
- hsa-miR-450b-3p (MIRT521470)
- hsa-miR-6811-5p (MIRT521471)
- hsa-miR-6511b-5p (MIRT521472)
- hsa-miR-6807-5p (MIRT521473)
- hsa-miR-3147 (MIRT521474)
- hsa-miR-4425 (MIRT521475)
- hsa-miR-548t-5p (MIRT521476)
- hsa-miR-548az-5p (MIRT521477)
- hsa-miR-4497 (MIRT661728)
- hsa-miR-4284 (MIRT661729)
- hsa-miR-4772-3p (MIRT661730)
- hsa-miR-4638-5p (MIRT661731)
- hsa-miR-1307-3p (MIRT661732)
- hsa-miR-6741-3p (MIRT661733)
- hsa-miR-6890-3p (MIRT661734)
- hsa-miR-1289 (MIRT783410)
- hsa-miR-129-5p (MIRT783579)
- hsa-miR-1304-5p (MIRT783720)
- hsa-miR-3140-3p (MIRT784644)
- hsa-miR-3198 (MIRT784825)
- hsa-miR-4294 (MIRT785633)
- hsa-miR-4309 (MIRT785698)
- hsa-miR-6134 (MIRT788090)
- hsa-miR-6880-5p (MIRT789283)
- hsa-miR-7854-3p (MIRT789596)
- hsa-miR-8055 (MIRT789719)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RAB9A
- Browse OriGene Inhibitory RNA Products For RAB9A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAB9A
Clone products for research
- Applied Biological Materials (abm): Clones for RAB9A - Starting at $45 >
- * RAB9A as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for RAB9A
- Sino Biological Human cDNA Clone for RAB9A
- Addgene plasmids for RAB9A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RAB9A
Cell Lines for research
-
Horizon Cell Lines for RAB9A
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RAB9A Gene
Localization for RAB9A Gene
Subcellular locations from UniProtKB/Swiss-Prot for RAB9A Gene
- Cell membrane. Lipid-anchor. Cytoplasmic side. Endoplasmic reticulum membrane. Golgi apparatus membrane. Late endosome. Cytoplasmic vesicle, phagosome membrane. Lipid-anchor. Cytoplasmic side. Cytoplasmic vesicle, phagosome. Cytoplasmic vesicle membrane. Melanosome. Note=Colocalizes with OSBPL1A at the late endosome (PubMed:16176980). Recruited to phagosomes containing S.aureus or M.tuberculosis (PubMed:21255211). {ECO:0000269 PubMed:16176980, ECO:0000269 PubMed:21255211}.
| Compartment | Confidence |
|---|---|
| endosome | 5 |
| cytosol | 5 |
| lysosome | 5 |
| plasma membrane | 4 |
| extracellular | 4 |
| golgi apparatus | 4 |
| nucleus | 3 |
| mitochondrion | 2 |
| endoplasmic reticulum | 2 |
| cytoskeleton | 1 |
| peroxisome | 1 |
- Cytosol (1)
- Nucleoplasm (1)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | IEA | -- |
| GO:0005764 | lysosome | IDA | 15078902 |
| GO:0005768 | endosome | IEA | -- |
| GO:0005770 | late endosome | IDA | 15078902 |
| GO:0005783 | endoplasmic reticulum | IEA | -- |
Pathways & Interactions for RAB9A Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Vesicle-mediated transport | ||
| 2 | Metabolism of proteins | ||
| 3 | wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF) |
wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)
.33
|
Transport Clathrin-coated vesicle cycle
.32
|
| 4 | Cytoskeletal Signaling | ||
| 5 | Measles |
.35
|
|
Pathways by source for RAB9A Gene
1 Sino Biological pathway for RAB9A Gene
8 Reactome pathways for RAB9A Gene
2 KEGG pathways for RAB9A Gene
4 GeneGo (Thomson Reuters) pathways for RAB9A Gene
- Cholesterol and Sphingolipids transport / Distribution to the intracellular membrane compartments (normal and CF)
- Transport Clathrin-coated vesicle cycle
- wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)
- wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF)
1 Qiagen pathway for RAB9A Gene
- Epithelial Tight Junctions
1 Cell Signaling Technology pathway for RAB9A Gene
Interacting Proteins for RAB9A Gene
Selected Interacting proteins:
P51151-RAB9A_HUMAN
ENSP00000420127
for RAB9A Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for RAB9A
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0015031 | protein transport | IEA | -- |
| GO:0032482 | Rab protein signal transduction | IEA | -- |
| GO:0032880 | regulation of protein localization | IMP | 18787122 |
| GO:0042147 | retrograde transport, endosome to Golgi | IBA | 21873635 |
| GO:0045921 | positive regulation of exocytosis | IMP | 19966785 |
Drugs & Compounds for RAB9A Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Guanosine diphosphate | Experimental | Pharma | Target | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Transcripts for RAB9A Gene
mRNA/cDNA for RAB9A Gene
- 2 REFSEQ mRNAs :
- 7 NCBI additional mRNA sequence :
- 3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000243325 393 nts (view in UCSC)
- ENST00000464506 2034 nts (view in UCSC)
- ENST00000618931 737 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for RAB9A - Starting at $85 >
- * RAB9A CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for RAB9A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RAB9A
-
Santa Cruz Biotechnology (SCBT) CRISPR for RAB9A
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RAB9A
- Browse OriGene Inhibitory RNA Products For RAB9A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAB9A
Clone products for research
- Applied Biological Materials (abm): Clones for RAB9A - Starting at $45 >
- * RAB9A as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for RAB9A
- Sino Biological Human cDNA Clone for RAB9A
- Addgene plasmids for RAB9A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RAB9A
Relevant External Links for RAB9A Gene
- GeneLoc Exon Structure for
- RAB9A
Expression for RAB9A Gene
This gene is overexpressed in Peripheral blood mononuclear cells (10.4) and Bone (9.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RAB9A Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RAB9A
SOURCE GeneReport for Unigene cluster for RAB9A Gene:
Hs.495704Evidence on tissue expression from TISSUES for RAB9A Gene
- Nervous system(4.7)
- Liver(4.3)
- Muscle(4.3)
- Kidney(2.3)
- Skin(2.3)
Primer products for research
-
OriGene qPCR primer pairs for RAB9A
-
OriGene qPCR primer pairs and template standards for RAB9A
Gene Expression Assays for research
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RAB9A Gene
Orthologs for RAB9A Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | RAB9A 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | RAB9A 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Dog (Canis familiaris) |
Mammalia | RAB9A 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Rab9a 30 |
|
||
| Cow (Bos Taurus) |
Mammalia | RAB9A 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Rab9 30 17 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | RAB9A 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | RAB9A 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | rab9a 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.17219 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | rab9a 30 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG9994 32 |
|
|
|
| Rab7 32 |
|
|
|||
| Rab9 31 |
|
OneToMany | |||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | YPT7 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
- Species where no ortholog for RAB9A was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- 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)
- 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)
- 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)
- Worm (Caenorhabditis elegans)
Evolution for RAB9A Gene
- ENSEMBL:
- Gene Tree for RAB9A (if available)
- TreeFam:
- Gene Tree for RAB9A (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for RAB9A: view image
Paralogs for RAB9A Gene
Paralogs for RAB9A Gene
- RAB9B 5
- RAB7A 5
- RAB7B 5
- RAB26 5
- RASEF 5
- RAB11B 5
- RAB27A 5
- RAB27B 5
- RAB8B 5
- RAB11A 5
- RAB39B 5
- RAB30 5
- ENSG00000285641 5
- RAB13 5
- RAB2B 5
- RAB2A 5
- RAB14 5
- RAB8A 5
- RAB33A 5
- RAB43 5
- RAB39A 5
- RAB37 5
- RAB25 5
- RAB5A 5
- RAB10 5
- RAB1A 5
- RAB15 5
- RAB23 5
- RAB1B 5
- RAB5B 5
- RAB5C 5
- RAB35 5
- RAB42 5
- RAB4B 5
- RAB4B-EGLN2 5
- RAB33B 5
- RAB4A 5
- RABL2B 5
- RAB21 5
- RAB19 5
- RAB3C 5
- RAB22A 5
- RABL2A 5
- RAB3B 5
- RAB20 5
- RAB18 5
- RAB12 5
- RAB31 5
- RAB3D 5
- RAB3A 5
- RAB32 5
- RAB38 5
- RAB29 5
- RAB36 5
- RAB40C 5
- RAB6A 5
- RAB6B 5
- RAB40B 5
- RAB17 5
- IFT27 5
- RAB28 5
- RAB41 5
- RAB40AL 5
- RAB40A 5
- ENSG00000267261 5
- RAB24 5
- RAB44 5
- RAB6D 5
- DNAJC27 5
- RAB6C 5
- RAB34 5
(86) SIMAP similar genes for RAB9A Gene using alignment to 1 proteins:
- RAB9A_HUMAN
- RAB9B
- RANP1
- RAB8B
- DKFZp686J07132
- RAB7A
- RAB23
- RAB15
- RAP2B
- RAB41
- RAB1B
- DKFZp547A0616
- RAB11B
- RAB7B
- RAB4A
- RAB11A
- RAB30
- RAB21
- RAP2C
- RAP2A
- RABL2B
- RAB43
- RAB2A
- RAB1C
- RAB8A
- RAB25
- RAB14
- MRAS
- RABL2A
- RAB19
- RAP1B
- RAB39A
- RAB17
- RAB5C
- RAP1A
- RALA
- RIT2
- RAB4B
- RAB39B
- RAB2B
- LOC51277
- HRAS
- DKFZp313C1541
- RAB32
- RAB13
- RAB27A
- RRAS2
- RALB
- RAB5B
- RAB1A
- KRAS
- RAB7L1
- NRAS
- RAB37
- RAB6A
- RAN
- RAB31
- RAB22A
- RAB10
- RAB6B
- RAB6C
- RRAS
- RIT1
- RAB3C
- RAB3B
- RAB35
- RAB3A
- RAB5A
- RAB26
- RASEF
- RAB40C
- RAB34
- RAB33B
- RAB38
- RAB12
- RAB33A
- RAB28
- RAB27B
- RAB44
- RAB40A
- RAB24
- RAB3D
- RAB18
- DIRAS1
- RHOD
- RASD2
- RAC3
Pseudogenes.org Pseudogenes for RAB9A Gene
Variants for RAB9A Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RAB9A Gene
| SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs143297516 | Benign: not provided | 13,709,340(+) |
A/T NM_004251.5(RAB9A):c.594A>T (p.Ser198=) |
SYNONYMOUS | |
| rs201466174 | Likely Benign: not provided | 13,709,181(+) |
C/T NM_004251.5(RAB9A):c.435C>T (p.Asn145=) |
SYNONYMOUS |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv2224e212 | CNV | loss | 25503493 |
| dgv2225e212 | CNV | gain | 25503493 |
| esv3576776 | CNV | gain | 25503493 |
| nsv528634 | CNV | gain | 19592680 |
Residual Variation Intolerance Score:
30.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.03;
0.66% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for RAB9A Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- RAB9A
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAB9A Gene
Disorders for RAB9A Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| simpson-golabi-behmel syndrome, type 2 |
|
|
Search RAB9A in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for RAB9A
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for RAB9A Gene
Publications for RAB9A Gene
- Cloning and mapping of human Rab7 and Rab9 cDNA sequences and identification of a Rab9 pseudogene. (PMID: 9126495) Davies JP … Ioannou YA (Genomics 1997) 2 3 4 23
- 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
- RUTBC1 protein, a Rab9A effector that activates GTP hydrolysis by Rab32 and Rab33B proteins. (PMID: 21808068) Nottingham RM … Pfeffer SR (The Journal of biological chemistry 2011) 3 4
- Rab GTPases regulating phagosome maturation are differentially recruited to mycobacterial phagosomes. (PMID: 21255211) Seto S … Koide Y (Traffic (Copenhagen, Denmark) 2011) 3 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
ExternalLinks
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Sources for RAB9A Gene
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