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Aliases for RAB28 Gene

Aliases for RAB28 Gene

  • RAB28, Member RAS Oncogene Family 2 3 5
  • 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. GO annotations related to this gene include GTP binding and GDP binding.

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

Genomics for RAB28 Gene

Regulatory Elements for RAB28 Gene

Promoters for RAB28 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RAB28 on UCSC Golden Path with GeneCards custom track

Genomic Location for RAB28 Gene

Chromosome:
4
Start:
13,296,017 bp from pter
End:
13,484,365 bp from pter
Size:
188,349 bases
Orientation:
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:
    P51157-RAB28_HUMAN
    Recommended name:
    Ras-related protein Rab-28
    Protein Accession:
    P51157
    Secondary Accessions:
    • G8JLC5
    • Q8IYR8
    • Q8NI05

    Protein attributes for RAB28 Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for RAB28 Gene

Proteomics data for RAB28 Gene at MOPED

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

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

P51157

UniProtKB/Swiss-Prot:

RAB28_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 RAB28: view

Function for RAB28 Gene

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

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

COMPARTMENTS
Jensen Localization Image for RAB28 Gene COMPARTMENTS Subcellular localization image for RAB28 gene
Compartment Confidence
cytoskeleton 5
plasma membrane 4
cytosol 3
mitochondrion 1
nucleus 1

No data available for Gene Ontology (GO) - Cellular Components 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

Interacting Proteins for RAB28 Gene

Gene Ontology (GO) - Biological Process for RAB28 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0015031 protein transport IEA --
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:

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: -
SP4:

Relevant External Links for RAB28 Gene

GeneLoc Exon Structure for
RAB28
ECgene alternative splicing isoforms for
RAB28

Expression for RAB28 Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for RAB28 Gene



SOURCE GeneReport for Unigene cluster for RAB28 Gene Hs.656060

mRNA Expression by UniProt/SwissProt for RAB28 Gene

P51157-RAB28_HUMAN
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.
genes like me logo Genes that share expression patterns with RAB28: view

Protein tissue co-expression partners for RAB28 Gene

Primer Products

In Situ Assay Products

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
chimpanzee
(Pan troglodytes)
Mammalia RAB28 36
  • 100 (a)
OneToOne
RAB28 35
  • 99.66 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia RAB28 35
  • 95.78 (n)
  • 96.38 (a)
RAB28 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RAB28 36
  • 94 (a)
OneToOne
RAB28 35
  • 95.48 (n)
  • 96.38 (a)
mouse
(Mus musculus)
Mammalia Rab28 16
Rab28 36
  • 95 (a)
OneToOne
Rab28 35
  • 92.01 (n)
  • 95.48 (a)
oppossum
(Monodelphis domestica)
Mammalia RAB28 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RAB28 36
  • 66 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rab28 35
  • 92.61 (n)
  • 96.38 (a)
chicken
(Gallus gallus)
Aves RAB28 35
  • 83.56 (n)
  • 86.88 (a)
RAB28 36
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RAB28 36
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rab28 35
  • 78.88 (n)
  • 85.07 (a)
Str.15168 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3434 35
zebrafish
(Danio rerio)
Actinopterygii rab28 35
  • 73.91 (n)
  • 82.35 (a)
wufe49e06 35
worm
(Caenorhabditis elegans)
Secernentea rab-28 35
  • 50.84 (n)
  • 48.4 (a)
rab-28 36
  • 42 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 54 (a)
OneToOne
Species with no ortholog for RAB28:
  • 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

ENSEMBL:
Gene Tree for RAB28 (if available)
TreeFam:
Gene Tree for RAB28 (if available)

Paralogs for RAB28 Gene

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

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 Sequence Context AA Info Type
rs2184 -- 13,481,618(+) GACAG(A/G)AAAAA intron-variant
rs15412 -- 13,367,805(-) TTCTC(A/C/G/T)GGAGT intron-variant, utr-variant-3-prime
rs1125319 -- 13,373,292(+) AACAA(C/T)CTGGG intron-variant
rs1012428 -- 13,373,070(+) GCTTA(A/G)AAATG intron-variant
rs1135652 -- 13,367,745(-) CTTTC(A/C)CAAAT intron-variant, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv829866 CNV Loss 17160897
esv2665157 CNV Deletion 23128226
esv25888 CNV Loss 19812545

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)

Relevant External Links for RAB28 Gene

HapMap Linkage Disequilibrium report
RAB28
Human Gene Mutation Database (HGMD)
RAB28

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: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cone-rod dystrophy 18
  • cord18
retinitis pigmentosa
  • retinitis pigmentosa 1
cone-rod dystrophy
  • cone-rod dystrophy 5
mevalonic aciduria
  • mevalonate kinase deficiency
- elite association - COSMIC cancer census association via MalaCards
Search RAB28 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RAB28_HUMAN
  • 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. {ECO:0000269 PubMed:23746546}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for RAB28

Genetic Association Database (GAD)
RAB28
Human Genome Epidemiology (HuGE) Navigator
RAB28
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RAB28
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 H.-G. (Eur. J. Biochem. 1996) 2 3 4 23 67
  2. Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years. (PMID: 24347629) Shaffer J.R. … Marazita M.L. (G3 (Bethesda) 2014) 3
  3. New Mutations in the RAB28 Gene in 2 Spanish Families With Cone-Rod Dystrophy. (PMID: 25356532) Riveiro-A8lvarez R. … Allikmets R. (JAMA Ophthalmol 2014) 3
  4. Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. (PMID: 23746546) Roosing S. … den Hollander A.I. (Am. J. Hum. Genet. 2013) 3
  5. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie A.G. … Butte N.F. (PLoS ONE 2012) 3

Products for RAB28 Gene

Sources for RAB28 Gene

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