Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9364
Gene name Gene Name - the full gene name approved by the HGNC.
RAB28, member RAS oncogene family
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RAB28
Synonyms (NCBI Gene) Gene synonyms aliases
CORD18
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CORD18
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4p15.33
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs398123044 G>A,C,T Pathogenic Coding sequence variant, missense variant, stop gained, synonymous variant
rs751163782 A>C,G Pathogenic Missense variant, synonymous variant, intron variant, coding sequence variant
rs786200944 G>A,T Pathogenic Stop gained, coding sequence variant, missense variant
rs875989778 C>G Pathogenic Splice donor variant
rs1560141393 CT>- Likely-pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT004181 hsa-miR-197-3p Microarray 16822819
MIRT019946 hsa-miR-375 Microarray 20215506
MIRT1283148 hsa-miR-1270 CLIP-seq
MIRT1283149 hsa-miR-1279 CLIP-seq
MIRT1283150 hsa-miR-185 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003924 Function GTPase activity IBA 21873635
GO:0005515 Function Protein binding IPI 32296183
GO:0005525 Function GTP binding IDA 19026641
GO:0005737 Component Cytoplasm IEA
GO:0005886 Component Plasma membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
612994 9768 ENSG00000157869
Protein
UniProt ID P51157
Protein name Ras-related protein Rab-28 (EC 3.6.5.2)
Protein function The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes (PubMed:8647132). Rabs cycle between an inactive GDP-bound form and an active GTP-bound form
PDB 2HXS , 3E5H
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00071 Ras 14 179 Ras family Domain
Tissue specificity TISSUE SPECIFICITY: [Isoform S]: 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). {ECO:0000269|PubMed:23746546}.; TISSUE
Sequence
Sequence length 221
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Cone dystrophy Cone Dystrophy rs121918537, rs796051871, rs104893967, rs61750172, rs61750173, rs606231180, rs606231181, rs61755783, rs61749668, rs61753046, rs762426409, rs374805348, rs794727197, rs863224908, rs869320709
View all (28 more)
25356532, 23746546
Cone-rod dystrophy Cone-Rod Dystrophy 2, CONE-ROD DYSTROPHY 18, Cone rod dystrophy, Cone-Rod Dystrophies rs200691042, rs121908281, rs28940314, rs121434337, rs80338903, rs121909398, rs28937883, rs397515360, rs137853006, rs786205085, rs137853040, rs137853041, rs786205086, rs104894671, rs1568626209
View all (207 more)
23746546, 25356532, 27930654, 28388261
Macular dystrophy Macular dystrophy rs80338903, rs267606875, rs137853006, rs62635654, rs104893967, rs61755793, rs62625014, rs724159985, rs398122391, rs1800728, rs61755810, rs61755814, rs61748556, rs61751263, rs61751402
View all (42 more)
25356532, 23746546
Myopia Severe myopia rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805
View all (6 more)
Unknown
Disease term Disease name Evidence References Source
Cone Dystrophy cone-rod dystrophy GenCC
Associations from Text Mining
Disease Name Relationship Type References
Color Vision Defects Associate 33396523
Cone Rod Dystrophies Associate 25356532, 26153215, 32084271, 33396523
Myopia Associate 32084271
Periodontitis Associate 35179257
Photophobia Associate 33396523
Polydactyly Postaxial Associate 32084271
Refsum Disease Infantile Associate 34828430
Retinal Dystrophies Associate 32084271
Retinitis Associate 33396523
Vision Disorders Associate 33396523