Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23682
Gene name	RAB38, member RAS oncogene family
Gene symbol	RAB38
Synonyms (NCBI Gene)	NY-MEL-1rrGTPbp
Chromosome	11
Chromosome location	11q14.2

Show/Hide all (13)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022901	hsa-miR-124-3p	Microarray	18668037
MIRT032387	hsa-let-7b-5p	Proteomics	18668040
MIRT1283845	hsa-miR-633	CLIP-seq
MIRT2309423	hsa-miR-3064-3p	CLIP-seq
MIRT2309424	hsa-miR-4420	CLIP-seq
MIRT2309425	hsa-miR-4536	CLIP-seq
MIRT2309426	hsa-miR-4715-3p	CLIP-seq
MIRT2309427	hsa-miR-4768-5p	CLIP-seq
MIRT2309428	hsa-miR-9	CLIP-seq
MIRT2393336	hsa-miR-346	CLIP-seq
MIRT2393337	hsa-miR-3689d	CLIP-seq
MIRT2393338	hsa-miR-4527	CLIP-seq
MIRT2393339	hsa-miR-4802-5p	CLIP-seq

Show/Hide all (61)

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	NAS	10910072
GO:0005515	Function	Protein binding	IPI	22511774, 31552791, 32814053
GO:0005525	Function	GTP binding	IEA
GO:0005525	Function	GTP binding	NAS	10910072, 22511774
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	25767741
GO:0005764	Component	Lysosome	IDA	25767741
GO:0005769	Component	Early endosome	IDA	22511774
GO:0005769	Component	Early endosome	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005802	Component	Trans-Golgi network	IBA
GO:0005802	Component	Trans-Golgi network	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0006886	Process	Intracellular protein transport	IBA
GO:0007005	Process	Mitochondrion organization	IEA
GO:0007005	Process	Mitochondrion organization	IMP	25767741
GO:0007264	Process	Small GTPase-mediated signal transduction	NAS	10910072
GO:0012505	Component	Endomembrane system	IBA
GO:0015031	Process	Protein transport	IEA
GO:0015031	Process	Protein transport	NAS	10910072
GO:0016020	Component	Membrane	IDA	22511774
GO:0016020	Component	Membrane	IEA
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0030670	Component	Phagocytic vesicle membrane	IEA
GO:0030742	Function	GTP-dependent protein binding	IPI	22511774
GO:0031090	Component	Organelle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031905	Component	Early endosome lumen	IDA	22511774
GO:0031982	Component	Vesicle	IEA
GO:0032438	Process	Melanosome organization	IBA
GO:0033162	Component	Melanosome membrane	IDA	23084991
GO:0033162	Component	Melanosome membrane	IEA
GO:0033162	Component	Melanosome membrane	TAS
GO:0035612	Function	AP-2 adaptor complex binding	IDA	22511774
GO:0035646	Process	Endosome to melanosome transport	IMP	22511774
GO:0035650	Function	AP-1 adaptor complex binding	IPI	22511774
GO:0035651	Function	AP-3 adaptor complex binding	IPI	22511774
GO:0036461	Function	BLOC-2 complex binding	IPI	22511774
GO:0042470	Component	Melanosome	IBA
GO:0042470	Component	Melanosome	IDA	22511774
GO:0042470	Component	Melanosome	IEA
GO:0044233	Component	Mitochondria-associated endoplasmic reticulum membrane contact site	IDA	25767741
GO:0044297	Component	Cell body	IEA
GO:0045335	Component	Phagocytic vesicle	IDA	21255211
GO:0045335	Component	Phagocytic vesicle	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048023	Process	Positive regulation of melanin biosynthetic process	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0060155	Process	Platelet dense granule organization	IEA
GO:0072657	Process	Protein localization to membrane	IEA
GO:0072657	Process	Protein localization to membrane	IMP	22511774, 25767741
GO:0090383	Process	Phagosome acidification	IMP	21255211
GO:1903232	Process	Melanosome assembly	IDA	23084991
GO:1903232	Process	Melanosome assembly	IMP	22511774
GO:1904377	Process	Positive regulation of protein localization to cell periphery	IEA
GO:2001247	Process	Positive regulation of phosphatidylcholine biosynthetic process	IEA

MIM	HGNC	e!Ensembl
606281	9776	ENSG00000123892

P57729

Protein name

Ras-related protein Rab-38 (EC 3.6.5.2) (Melanoma antigen NY-MEL-1)

Protein function

The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to r

PDB

6HDU , 6S5H

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00071	Ras	11 → 179	Ras family	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in melanocytes.

Sequence

MQAPHKEHLYKLLVIGDLGVGKTSIIKRYVHQNFSSHYRATIGVDFALKVLHWDPETVVR
LQLWDIAGQERFGNMTRVYYREAMGAFIVFDVTRPATFEAVAKWKNDLDSKLSLPNGKPV
SVVLLANKCDQGKDVLMNNGLKMDQFCKEHGFVGWFETSAKENINIDEASRCLVKHILAN
ECDLMESIEPDVVKPHLTSTKVASCSGCAKS

Sequence length

211

Interactions

View interactions

	Reactome
			RAB geranylgeranylation RAB GEFs exchange GTP for GDP on RABs

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)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	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.
BENIGN NEOPLASM OF EYE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FRONTOTEMPORAL DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (33)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	30569114		★★★★★ ★☆☆☆☆ Found in Text Mining only
Albinism, Oculocutaneous	Oculocutaneous albinism	BEFREE	11917121, 17724166		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	30535713		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	30535713		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	26575290	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	Pubtator	24452533	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Choroideremia	Choroideremia	BEFREE	24358126		★★★★★ ★☆☆☆☆ Found in Text Mining only
Choroideremia	Choroideremia	Pubtator	24358126	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	26575290		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	26631737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	26631737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	26631737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	24943344		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Frontotemporal dementia	Frontotemporal dementia	GWASDB_DG	24943344		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Frontotemporal dementia	Frontotemporal dementia	GWASCAT_DG	24943344		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	24943344, 33637304	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	BEFREE	24026199		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	34209035	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	24026199		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hermanski-Pudlak Syndrome	Hermansky-Pudlak Syndrome	BEFREE	17724166, 19897744, 23426636, 24026199, 30837268, 31399401		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypopigmentation disorder	Hypopigmentation Disorder	BEFREE	17724166		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	33883344	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	30569114		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	30535713		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10910072, 30072397, 31452745		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	10910072, 30072397		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	16718472, 30072397	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30569114		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	31452745		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	30569114		★★★★★ ★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	29351916		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	Pubtator	19587696	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

RAB38 (RAB38, member RAS oncogene family)