Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	9364
Gene name	RAB28, member RAS oncogene family
Gene symbol	RAB28
Synonyms (NCBI Gene)	CORD18
Chromosome	4
Chromosome location	4p15.33
Summary	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

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

85 Show/Hide all (85)

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
MIRT1283151	hsa-miR-3614-3p	CLIP-seq
MIRT1283152	hsa-miR-3680	CLIP-seq
MIRT1283153	hsa-miR-4306	CLIP-seq
MIRT1283154	hsa-miR-432	CLIP-seq
MIRT1283155	hsa-miR-4438	CLIP-seq
MIRT1283156	hsa-miR-4477a	CLIP-seq
MIRT1283157	hsa-miR-450b-5p	CLIP-seq
MIRT1283158	hsa-miR-4531	CLIP-seq
MIRT1283159	hsa-miR-4644	CLIP-seq
MIRT1283160	hsa-miR-4798-3p	CLIP-seq
MIRT1283161	hsa-miR-498	CLIP-seq
MIRT1283162	hsa-miR-507	CLIP-seq
MIRT1283163	hsa-miR-5095	CLIP-seq
MIRT1283164	hsa-miR-557	CLIP-seq
MIRT1283165	hsa-miR-620	CLIP-seq
MIRT1283166	hsa-miR-890	CLIP-seq
MIRT1283167	hsa-miR-935	CLIP-seq
MIRT2083931	hsa-miR-186	CLIP-seq
MIRT2083931	hsa-miR-186	CLIP-seq
MIRT2309227	hsa-miR-3179	CLIP-seq
MIRT2309228	hsa-miR-4257	CLIP-seq
MIRT2309229	hsa-miR-4325	CLIP-seq
MIRT2309230	hsa-miR-4436b-3p	CLIP-seq
MIRT2309231	hsa-miR-4714-5p	CLIP-seq
MIRT1283162	hsa-miR-507	CLIP-seq
MIRT2309232	hsa-miR-520d-5p	CLIP-seq
MIRT2309233	hsa-miR-524-5p	CLIP-seq
MIRT1283164	hsa-miR-557	CLIP-seq
MIRT2432396	hsa-miR-1207-3p	CLIP-seq
MIRT2432397	hsa-miR-361-5p	CLIP-seq
MIRT2432398	hsa-miR-4711-5p	CLIP-seq
MIRT2432399	hsa-miR-4729	CLIP-seq
MIRT1283148	hsa-miR-1270	CLIP-seq
MIRT1283149	hsa-miR-1279	CLIP-seq
MIRT1283150	hsa-miR-185	CLIP-seq
MIRT2605943	hsa-miR-302f	CLIP-seq
MIRT2605944	hsa-miR-3064-5p	CLIP-seq
MIRT2605945	hsa-miR-3682-3p	CLIP-seq
MIRT2605946	hsa-miR-3688-5p	CLIP-seq
MIRT2605947	hsa-miR-4282	CLIP-seq
MIRT1283153	hsa-miR-4306	CLIP-seq
MIRT1283154	hsa-miR-432	CLIP-seq
MIRT1283155	hsa-miR-4438	CLIP-seq
MIRT2605948	hsa-miR-4470	CLIP-seq
MIRT1283156	hsa-miR-4477a	CLIP-seq
MIRT2605949	hsa-miR-4502	CLIP-seq
MIRT1283158	hsa-miR-4531	CLIP-seq
MIRT1283159	hsa-miR-4644	CLIP-seq
MIRT2605950	hsa-miR-4668-3p	CLIP-seq
MIRT1283161	hsa-miR-498	CLIP-seq
MIRT2605951	hsa-miR-499-3p	CLIP-seq
MIRT2605952	hsa-miR-499a-3p	CLIP-seq
MIRT1283163	hsa-miR-5095	CLIP-seq
MIRT2309232	hsa-miR-520d-5p	CLIP-seq
MIRT2309233	hsa-miR-524-5p	CLIP-seq
MIRT1283165	hsa-miR-620	CLIP-seq
MIRT1283166	hsa-miR-890	CLIP-seq
MIRT1283148	hsa-miR-1270	CLIP-seq
MIRT1283149	hsa-miR-1279	CLIP-seq
MIRT1283150	hsa-miR-185	CLIP-seq
MIRT2605943	hsa-miR-302f	CLIP-seq
MIRT2605944	hsa-miR-3064-5p	CLIP-seq
MIRT2605945	hsa-miR-3682-3p	CLIP-seq
MIRT2605946	hsa-miR-3688-5p	CLIP-seq
MIRT2605947	hsa-miR-4282	CLIP-seq
MIRT1283153	hsa-miR-4306	CLIP-seq
MIRT1283154	hsa-miR-432	CLIP-seq
MIRT1283155	hsa-miR-4438	CLIP-seq
MIRT2605948	hsa-miR-4470	CLIP-seq
MIRT1283156	hsa-miR-4477a	CLIP-seq
MIRT2605949	hsa-miR-4502	CLIP-seq
MIRT1283158	hsa-miR-4531	CLIP-seq
MIRT1283159	hsa-miR-4644	CLIP-seq
MIRT2605950	hsa-miR-4668-3p	CLIP-seq
MIRT1283161	hsa-miR-498	CLIP-seq
MIRT2605951	hsa-miR-499-3p	CLIP-seq
MIRT2605952	hsa-miR-499a-3p	CLIP-seq
MIRT1283163	hsa-miR-5095	CLIP-seq
MIRT1283165	hsa-miR-620	CLIP-seq
MIRT1283166	hsa-miR-890	CLIP-seq

21 Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003924	Function	GTPase activity	IBA
GO:0003924	Function	GTPase activity	IEA
GO:0003924	Function	GTPase activity	TAS	8647132
GO:0003925	Function	G protein activity	IDA	8647132
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005525	Function	GTP binding	IDA	19026641
GO:0005525	Function	GTP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0006886	Process	Intracellular protein transport	IBA
GO:0012505	Component	Endomembrane system	IBA
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019003	Function	GDP binding	IDA	19026641, 20937701
GO:0035253	Component	Ciliary rootlet	ISS
GO:0036064	Component	Ciliary basal body	ISS
GO:0042995	Component	Cell projection	IEA
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
612994	9768	ENSG00000157869

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

MSDSEEESQDRQLKIVVLGDGASGKTSLTTCFAQETFGKQYKQTIGLDFFLRRITLPGNL
NVTLQIWDIGGQTIGGKMLDKYIYGAQGVLLVYDITNYQSFENLEDWYTVVKKVSEESET
QPLVALVGNKIDLEHMRTIKPEKHLRFCQENGFSSHFVSAKTGDSVFLCFQKVAAEILGI
KLNKAEIEQSQRVVKADIVNYNQEPMSRTVNPPRSSMCAVQ

Sequence length

221

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cone dystrophy	Likely pathogenic	rs2474592669	RCV003324671	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone-rod dystrophy	Pathogenic	rs398123044	RCV002267723	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone-rod dystrophy 18	Likely pathogenic; Pathogenic	rs751163782, rs875989778, rs1560141393, rs786200944, rs398123044	RCV000211107 RCV000211098 RCV000761340 RCV000054527 RCV000054528	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinal dystrophy	Pathogenic; Likely pathogenic	rs786200944, rs1328767121	RCV004814992 RCV001074875	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (8)
CARCINOMA, BASAL CELL	—	CTD	36428691	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE ROD DYSTROPHY	—	Orphanet	23746546	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE-ROD DYSTROPHIES	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Uncertain significance	ClinVar Disgenet	—	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
RAB28-related disorder	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RAB28-related retinopathy	—	ClinGen	ClinGen report	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis pigmentosa	Uncertain significance	ClinVar Disgenet	—	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
RETINITIS PIGMENTOSA 1	—	CTD	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (20)
Color Vision Defects	Color vision deficiency	Pubtator	33396523	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cone Dystrophy	Cone Dystrophy	CLINVAR_DG	23746546, 25356532		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone rod dystrophy	Cone-rod dystrophy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophies	Cone-rod dystrophy	BEFREE	23746546, 25356532, 27930654		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophies	Cone-rod dystrophy	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophies	Cone-rod dystrophy	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE-ROD DYSTROPHY 18	Cone-rod dystrophy	CLINVAR_DG	23746546, 25356532		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CONE-ROD DYSTROPHY 18	Cone-rod dystrophy	CLINGEN_DG	23746546, 25356532, 27930654, 28388261		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CONE-ROD DYSTROPHY 18	Cone-rod dystrophy	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CONE-ROD DYSTROPHY 18	Cone-rod dystrophy	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cone-Rod Dystrophy 2	Cone-rod dystrophy	ORPHANET_DG	23746546		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	23746546, 25356532, 26153215, 27930654		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular dystrophy	Macular dystrophy	CLINVAR_DG	23746546, 25356532		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	32084271	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	35179257	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly Postaxial	Polydactyly	Pubtator	32084271	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	BEFREE	23746546, 25356532, 27930654		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	33396523	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
PITPNM3	2	["Cone dystrophy","Cone-rod dystrophy"]	[]	7	["Disgenet (Retinitis pigmentosa)","Disgenet (Cone dystrophy)","Orphanet (Cone-rod dystrophy)","Disgenet (Cone-rod dystrophy)","CTD (Cone-rod dystrophy)","ClinVar (Cone-rod dystrophy)","HPO (Cone-rod dystrophy)"]
CDHR1	3	["Optic atrophy","Cone dystrophy","Cone-rod dystrophy"]	[]	9	["Disgenet (Optic atrophy)","Disgenet (Retinitis pigmentosa)","Disgenet (Cone dystrophy)","Orphanet (Cone-rod dystrophy)","Disgenet (Cone-rod dystrophy)","CTD (Cone-rod dystrophy)","ClinVar (Cone-rod dystrophy)","HPO (Cone-rod dystrophy)","GenCC (Cone-rod dystrophy)"]
CACNA2D4	3	["Optic atrophy","Cone dystrophy","Cone-rod dystrophy"]	[]	5	["Disgenet (Optic atrophy)","Disgenet (Retinitis pigmentosa)","Disgenet (Cone dystrophy)","Orphanet (Cone-rod dystrophy)","Disgenet (Cone-rod dystrophy)"]
SEMA4A	2	["Optic atrophy","Cone-rod dystrophy"]	[]	7	["Disgenet (Optic atrophy)","Disgenet (Retinitis pigmentosa)","Orphanet (Cone-rod dystrophy)","Disgenet (Cone-rod dystrophy)","CTD (Cone-rod dystrophy)","ClinVar (Cone-rod dystrophy)","HPO (Cone-rod dystrophy)"]
RPGRIP1	3	["Optic atrophy","Cone dystrophy","Cone-rod dystrophy"]	[]	9	["Disgenet (Optic atrophy)","Disgenet (Retinitis pigmentosa)","Disgenet (Cone dystrophy)","Orphanet (Cone-rod dystrophy)","Disgenet (Cone-rod dystrophy)","CTD (Cone-rod dystrophy)","ClinVar (Cone-rod dystrophy)","HPO (Cone-rod dystrophy)","GenCC (Cone-rod dystrophy)"]

RAB28 (RAB28, member RAS oncogene family)

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