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Aliases for RAB28 Gene

Aliases for RAB28 Gene

  • RAB28, Member RAS Oncogene Family 2 3 5
  • Ras-Related Protein Rab-28 3
  • CORD18 3

External Ids for RAB28 Gene

Previous GeneCards Identifiers for RAB28 Gene

  • GC04M013212
  • GC04U900009
  • GC04M013057
  • GC04M013120
  • GC04M013045
  • GC04M013369
  • GC04M012707

Summaries for RAB28 Gene

Entrez Gene Summary for RAB28 Gene

  • This gene encodes a member of the Rab subfamily of Ras-related small GTPases. The encoded protein may be involved in regulating intracellular trafficking. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 9 and X. [provided by RefSeq, Apr 2009]

GeneCards Summary for RAB28 Gene

RAB28 (RAB28, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB28 include Cone-Rod Dystrophy 18 and Retinitis Pigmentosa. Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics. Gene Ontology (GO) annotations related to this gene include GTP binding and GDP binding.

Additional gene information for RAB28 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAB28 Gene

Genomics for RAB28 Gene

GeneHancer (GH) Regulatory Elements for RAB28 Gene

Promoters and enhancers for RAB28 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04I013482 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 554.8 +0.2 165 2.8 PKNOX1 ATF1 ARNT ARID4B SIN3A BRCA1 YY1 GLIS2 ZNF213 ZNF207 RAB28 LOC105374495 NKX3-2 BOD1L1 GC04P013478
GH04I013531 Enhancer 0.6 ENCODE 11 -47.1 -47067 0.3 ETV1 ETS1 MTA3 POLR2A VEZF1 GABPB1 POU5F1 CTBP2 ZFX EZH2 RAB28 GC04P013528 LINC01097
GH04I013445 Enhancer 0.6 Ensembl ENCODE 9.9 +38.2 38187 1.2 SP1 ZBTB33 RAB28 GC04M013456 GC04P013389
GH04I013542 Enhancer 0.3 ENCODE 10.4 -58.2 -58174 0 EZH2 RAB28 NKX3-2 LINC01097
GH04I013455 Enhancer 0.2 ENCODE 11.5 +28.7 28740 1.1 RAB28 NKX3-2 GC04M013456 GC04P013389
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RAB28 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RAB28 gene promoter:

Genomic Locations for RAB28 Gene

Genomic Locations for RAB28 Gene
188,349 bases
Minus strand

Genomic View for RAB28 Gene

Genes around RAB28 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAB28 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAB28 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAB28 Gene

Proteins for RAB28 Gene

  • Protein details for RAB28 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Ras-related protein Rab-28
    Protein Accession:
    Secondary Accessions:
    • G8JLC5
    • Q8IYR8
    • Q8NI05

    Protein attributes for RAB28 Gene

    221 amino acids
    Molecular mass:
    24841 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for RAB28 Gene

    Alternative splice isoforms for RAB28 Gene


neXtProt entry for RAB28 Gene

Post-translational modifications for RAB28 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RAB28 Gene

Domains & Families for RAB28 Gene

Gene Families for RAB28 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for RAB28 Gene

Suggested Antigen Peptide Sequences for RAB28 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the small GTPase superfamily. Rab family.
  • Belongs to the small GTPase superfamily. Rab family.
genes like me logo Genes that share domains with RAB28: view

Function for RAB28 Gene

Phenotypes From GWAS Catalog for RAB28 Gene

Gene Ontology (GO) - Molecular Function for RAB28 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IEA --
GO:0005525 GTP binding IDA,IEA 19026641
GO:0019003 GDP binding IDA 19026641
genes like me logo Genes that share ontologies with RAB28: view
genes like me logo Genes that share phenotypes with RAB28: view

Human Phenotype Ontology for RAB28 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for RAB28 Gene

miRTarBase miRNAs that target RAB28

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for RAB28 Gene

Localization for RAB28 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAB28 Gene

Cell membrane; Lipid-anchor; Cytoplasmic side. Cytoplasm, cytoskeleton, cilium basal body. Note=Expressed in the basal body and ciliary rootlet of the photoreceptors. {ECO:0000250}.

Subcellular locations from

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 RAB28 gene
Compartment Confidence
cytoskeleton 5
plasma membrane 4
cytosol 3
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for RAB28 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0035253 ciliary rootlet ISS --
genes like me logo Genes that share ontologies with RAB28: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RAB28 Gene

Pathways & Interactions for RAB28 Gene

genes like me logo Genes that share pathways with RAB28: view

Pathways by source for RAB28 Gene

1 Qiagen pathway for RAB28 Gene

Gene Ontology (GO) - Biological Process for RAB28 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:1901998 toxin transport IEA --
genes like me logo Genes that share ontologies with RAB28: view

No data available for SIGNOR curated interactions for RAB28 Gene

Drugs & Compounds for RAB28 Gene

No Compound Related Data Available

Transcripts for RAB28 Gene

Unigene Clusters for RAB28 Gene

RAB28, member RAS oncogene family:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RAB28 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b
SP1: - -
SP2: - - - -
SP3: -

Relevant External Links for RAB28 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for RAB28 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RAB28 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RAB28 Gene

This gene is overexpressed in Retina (23.4) and Ovary (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RAB28 Gene

Protein tissue co-expression partners for RAB28 Gene

NURSA nuclear receptor signaling pathways regulating expression of RAB28 Gene:


SOURCE GeneReport for Unigene cluster for RAB28 Gene:


mRNA Expression by UniProt/SwissProt for RAB28 Gene:

Tissue specificity: Isoform S is detected in most tissues investigated: cortex, liver, kidney, skeletal muscle, adipose tissue, testis, urothelium, lung, bone marrow and retinal pigment epithelium (RPE). Isoform L 2 is widely and abundantly expressed all tissues. Isoform 3 is highly expressed in heart, lung, bone marrow, retina, brain, and RPE.

Evidence on tissue expression from TISSUES for RAB28 Gene

  • Nervous system(4.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RAB28 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • lacrimal apparatus
  • pituitary gland
  • breast
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with RAB28: view

No data available for mRNA differential expression in normal tissues for RAB28 Gene

Orthologs for RAB28 Gene

This gene was present in the common ancestor of animals.

Orthologs for RAB28 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia RAB28 33 34
  • 99.66 (n)
(Bos Taurus)
Mammalia RAB28 33 34
  • 95.78 (n)
(Canis familiaris)
Mammalia RAB28 33 34
  • 95.48 (n)
(Rattus norvegicus)
Mammalia Rab28 33
  • 92.61 (n)
(Mus musculus)
Mammalia Rab28 33 16 34
  • 92.01 (n)
(Monodelphis domestica)
Mammalia RAB28 34
  • 84 (a)
(Ornithorhynchus anatinus)
Mammalia RAB28 34
  • 66 (a)
(Gallus gallus)
Aves RAB28 33 34
  • 83.56 (n)
(Anolis carolinensis)
Reptilia RAB28 34
  • 80 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia rab28 33
  • 78.88 (n)
Str.15168 33
(Danio rerio)
Actinopterygii rab28 33
  • 73.91 (n)
wufe49e06 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3434 33
(Caenorhabditis elegans)
Secernentea rab-28 33 34
  • 50.84 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 54 (a)
Species where no ortholog for RAB28 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • 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 RAB28 Gene

Gene Tree for RAB28 (if available)
Gene Tree for RAB28 (if available)

Paralogs for RAB28 Gene

No data available for Paralogs for RAB28 Gene

Variants for RAB28 Gene

Sequence variations from dbSNP and Humsavar for RAB28 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs398123044 pathogenic, Cone-rod dystrophy 18 13,381,577(-) G/A/C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant, stop_gained, synonymous_variant
rs751163782 pathogenic, Cone-rod dystrophy 18 13,369,888(-) A/C/G coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, missense_variant, non_coding_transcript_variant, synonymous_variant
rs786200944 pathogenic, Cone-rod dystrophy 18 13,376,553(-) G/A coding_sequence_variant, genic_downstream_transcript_variant, non_coding_transcript_variant, stop_gained
rs875989778 pathogenic, Cone-rod dystrophy 18 13,479,429(-) C/G splice_donor_variant
rs886042436 uncertain-significance, not specified 13,376,566(-) TTT/T coding_sequence_variant, frameshift, genic_downstream_transcript_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for RAB28 Gene

Variant ID Type Subtype PubMed ID
dgv8975n54 CNV loss 21841781
esv25888 CNV loss 19812545
esv2665157 CNV deletion 23128226
esv3399677 CNV insertion 20981092
esv3563442 CNV deletion 23714750
esv3599702 CNV loss 21293372
nsv1014473 CNV gain 25217958
nsv593750 CNV gain 21841781
nsv829866 CNV loss 17160897

Variation tolerance for RAB28 Gene

Residual Variation Intolerance Score: 32.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.05; 21.38% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RAB28 Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAB28 Gene

Disorders for RAB28 Gene

MalaCards: The human disease database

(4) MalaCards diseases for RAB28 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cone-rod dystrophy 18
  • cord18
retinitis pigmentosa
  • rp
griscelli syndrome
  • chédiak-higashi-like syndrome
cone-rod dystrophy 2
  • cord2
- elite association - COSMIC cancer census association via MalaCards
Search RAB28 in MalaCards View complete list of genes associated with diseases


  • Cone-rod dystrophy 18 (CORD18) [MIM:615374]: A form of cone-rod dystrophy, an inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. {ECO:0000269 PubMed:23746546}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for RAB28

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RAB28: view

No data available for Genatlas for RAB28 Gene

Publications for RAB28 Gene

  1. Alternative mRNA splicing of the novel GTPase Rab28 generates isoforms with different C-termini. (PMID: 8647132) Brauers A … Joost HG (European journal of biochemistry 1996) 2 3 4 22 58
  2. Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. (PMID: 23746546) Roosing S … den Hollander AI (American journal of human genetics 2013) 3 4 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. Large nucleotide-dependent conformational change in Rab28. (PMID: 19026641) Lee SH … Dominguez R (FEBS letters 2008) 3 4 58
  5. Towards complete sets of farnesylated and geranylgeranylated proteins. (PMID: 17411337) Maurer-Stroh S … Eisenhaber F (PLoS computational biology 2007) 3 4 58

Products for RAB28 Gene

Sources for RAB28 Gene

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