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	83930
Gene name	STARD3 N-terminal like
Gene symbol	STARD3NL
Synonyms (NCBI Gene)	MENTHO
Chromosome	7
Chromosome location	7p14.1
Summary	This gene encodes a late-endosomal protein that contains a conserved MENTAL (MLN64 N-terminal) domain. The encoded protein binds cholesterol molecules and may play a role in endosomal cholesterol transport through interactions with metastatic lymph node p

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Show/Hide all (159)

miRTarBase ID	miRNA	Experiments	Reference
MIRT650967	hsa-miR-3127-3p	HITS-CLIP	19536157
MIRT650966	hsa-miR-6756-3p	HITS-CLIP	19536157
MIRT650965	hsa-miR-6832-3p	HITS-CLIP	19536157
MIRT650963	hsa-miR-6826-3p	HITS-CLIP	19536157
MIRT650962	hsa-miR-6875-3p	HITS-CLIP	19536157
MIRT650961	hsa-miR-4659a-3p	HITS-CLIP	19536157
MIRT650960	hsa-miR-4659b-3p	HITS-CLIP	19536157
MIRT650973	hsa-miR-8087	HITS-CLIP	23824327
MIRT650972	hsa-miR-3120-3p	HITS-CLIP	23824327
MIRT650971	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT650970	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT650969	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT650968	hsa-miR-2053	HITS-CLIP	23824327
MIRT650967	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT650966	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT650965	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT650964	hsa-miR-630	HITS-CLIP	23824327
MIRT650963	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT650962	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT650961	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT650960	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT650959	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT650958	hsa-miR-507	HITS-CLIP	23824327
MIRT650957	hsa-miR-557	HITS-CLIP	23824327
MIRT650956	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT553945	hsa-miR-548a-3p	PAR-CLIP	21572407
MIRT553944	hsa-miR-548ar-3p	PAR-CLIP	21572407
MIRT553943	hsa-miR-548az-3p	PAR-CLIP	21572407
MIRT553942	hsa-miR-548e-3p	PAR-CLIP	21572407
MIRT553941	hsa-miR-548f-3p	PAR-CLIP	21572407
MIRT553940	hsa-miR-5582-3p	PAR-CLIP	21572407
MIRT553939	hsa-miR-548g-3p	PAR-CLIP	21572407
MIRT103742	hsa-miR-1276	PAR-CLIP	21572407
MIRT103744	hsa-miR-4424	PAR-CLIP	21572407
MIRT103749	hsa-miR-5589-3p	PAR-CLIP	21572407
MIRT553938	hsa-miR-6076	PAR-CLIP	21572407
MIRT553937	hsa-miR-6797-3p	PAR-CLIP	21572407
MIRT258400	hsa-miR-520d-5p	PAR-CLIP	21572407
MIRT258399	hsa-miR-524-5p	PAR-CLIP	21572407
MIRT258398	hsa-let-7c-3p	PAR-CLIP	21572407
MIRT650967	hsa-miR-3127-3p	HITS-CLIP	19536157
MIRT650966	hsa-miR-6756-3p	HITS-CLIP	19536157
MIRT650965	hsa-miR-6832-3p	HITS-CLIP	19536157
MIRT650963	hsa-miR-6826-3p	HITS-CLIP	19536157
MIRT650962	hsa-miR-6875-3p	HITS-CLIP	19536157
MIRT650961	hsa-miR-4659a-3p	HITS-CLIP	19536157
MIRT650960	hsa-miR-4659b-3p	HITS-CLIP	19536157
MIRT650973	hsa-miR-8087	HITS-CLIP	23824327
MIRT650972	hsa-miR-3120-3p	HITS-CLIP	23824327
MIRT650971	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT650970	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT650969	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT650968	hsa-miR-2053	HITS-CLIP	23824327
MIRT650967	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT650966	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT650965	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT650964	hsa-miR-630	HITS-CLIP	23824327
MIRT650963	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT650962	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT650961	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT650960	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT650959	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT650958	hsa-miR-507	HITS-CLIP	23824327
MIRT650957	hsa-miR-557	HITS-CLIP	23824327
MIRT650956	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT553945	hsa-miR-548a-3p	PAR-CLIP	21572407
MIRT553944	hsa-miR-548ar-3p	PAR-CLIP	21572407
MIRT553943	hsa-miR-548az-3p	PAR-CLIP	21572407
MIRT553942	hsa-miR-548e-3p	PAR-CLIP	21572407
MIRT553941	hsa-miR-548f-3p	PAR-CLIP	21572407
MIRT553940	hsa-miR-5582-3p	PAR-CLIP	21572407
MIRT553939	hsa-miR-548g-3p	PAR-CLIP	21572407
MIRT103742	hsa-miR-1276	PAR-CLIP	21572407
MIRT103744	hsa-miR-4424	PAR-CLIP	21572407
MIRT103749	hsa-miR-5589-3p	PAR-CLIP	21572407
MIRT553938	hsa-miR-6076	PAR-CLIP	21572407
MIRT553937	hsa-miR-6797-3p	PAR-CLIP	21572407
MIRT258400	hsa-miR-520d-5p	PAR-CLIP	21572407
MIRT258399	hsa-miR-524-5p	PAR-CLIP	21572407
MIRT258398	hsa-let-7c-3p	PAR-CLIP	21572407
MIRT1395309	hsa-miR-3201	CLIP-seq
MIRT1395310	hsa-miR-4519	CLIP-seq
MIRT1395311	hsa-miR-4530	CLIP-seq
MIRT1395312	hsa-miR-4791	CLIP-seq
MIRT1395313	hsa-miR-489	CLIP-seq
MIRT1395314	hsa-miR-490-5p	CLIP-seq
MIRT1395315	hsa-miR-548e	CLIP-seq
MIRT1395316	hsa-miR-548f	CLIP-seq
MIRT1395317	hsa-miR-548g	CLIP-seq
MIRT1395318	hsa-miR-556-3p	CLIP-seq
MIRT2118568	hsa-miR-1264	CLIP-seq
MIRT2118569	hsa-miR-1294	CLIP-seq
MIRT2118570	hsa-miR-4270	CLIP-seq
MIRT2118571	hsa-miR-4316	CLIP-seq
MIRT2118572	hsa-miR-4441	CLIP-seq
MIRT2118573	hsa-miR-4477a	CLIP-seq
MIRT2118574	hsa-miR-4677-3p	CLIP-seq
MIRT2118575	hsa-miR-4679	CLIP-seq
MIRT2118576	hsa-miR-4693-5p	CLIP-seq
MIRT2340842	hsa-miR-23a	CLIP-seq
MIRT2340843	hsa-miR-23b	CLIP-seq
MIRT2340844	hsa-miR-23c	CLIP-seq
MIRT2340845	hsa-miR-24	CLIP-seq
MIRT2340846	hsa-miR-3155	CLIP-seq
MIRT2340847	hsa-miR-3155b	CLIP-seq
MIRT2340848	hsa-miR-323-3p	CLIP-seq
MIRT2340849	hsa-miR-3605-5p	CLIP-seq
MIRT2340850	hsa-miR-412	CLIP-seq
MIRT2340851	hsa-miR-4264	CLIP-seq
MIRT2340852	hsa-miR-4420	CLIP-seq
MIRT2340853	hsa-miR-4514	CLIP-seq
MIRT2340854	hsa-miR-4691-3p	CLIP-seq
MIRT2340855	hsa-miR-4692	CLIP-seq
MIRT2340856	hsa-miR-4709-3p	CLIP-seq
MIRT2340857	hsa-miR-4724-3p	CLIP-seq
MIRT2340858	hsa-miR-4742-5p	CLIP-seq
MIRT2340859	hsa-miR-484	CLIP-seq
MIRT2340860	hsa-miR-495	CLIP-seq
MIRT2340861	hsa-miR-5096	CLIP-seq
MIRT1395315	hsa-miR-548e	CLIP-seq
MIRT1395316	hsa-miR-548f	CLIP-seq
MIRT1395317	hsa-miR-548g	CLIP-seq
MIRT2340862	hsa-miR-548n	CLIP-seq
MIRT1395318	hsa-miR-556-3p	CLIP-seq
MIRT2340863	hsa-miR-622	CLIP-seq
MIRT2340864	hsa-miR-634	CLIP-seq
MIRT2340865	hsa-miR-940	CLIP-seq
MIRT2634549	hsa-miR-1257	CLIP-seq
MIRT2118568	hsa-miR-1264	CLIP-seq
MIRT2634550	hsa-miR-203	CLIP-seq
MIRT2634551	hsa-miR-219-2-3p	CLIP-seq
MIRT2634552	hsa-miR-2964a-3p	CLIP-seq
MIRT2634553	hsa-miR-3613-3p	CLIP-seq
MIRT2634554	hsa-miR-3682-5p	CLIP-seq
MIRT2340850	hsa-miR-412	CLIP-seq
MIRT2118573	hsa-miR-4477a	CLIP-seq
MIRT2118574	hsa-miR-4677-3p	CLIP-seq
MIRT2118575	hsa-miR-4679	CLIP-seq
MIRT2634555	hsa-miR-4778-5p	CLIP-seq
MIRT2634556	hsa-miR-494	CLIP-seq
MIRT2634557	hsa-miR-548m	CLIP-seq
MIRT2634558	hsa-miR-548t	CLIP-seq
MIRT2634559	hsa-miR-656	CLIP-seq
MIRT2634549	hsa-miR-1257	CLIP-seq
MIRT2118568	hsa-miR-1264	CLIP-seq
MIRT2634550	hsa-miR-203	CLIP-seq
MIRT2634551	hsa-miR-219-2-3p	CLIP-seq
MIRT2634552	hsa-miR-2964a-3p	CLIP-seq
MIRT2634553	hsa-miR-3613-3p	CLIP-seq
MIRT2634554	hsa-miR-3682-5p	CLIP-seq
MIRT2340850	hsa-miR-412	CLIP-seq
MIRT2118573	hsa-miR-4477a	CLIP-seq
MIRT2118574	hsa-miR-4677-3p	CLIP-seq
MIRT2118575	hsa-miR-4679	CLIP-seq
MIRT2634555	hsa-miR-4778-5p	CLIP-seq
MIRT2634556	hsa-miR-494	CLIP-seq
MIRT2634557	hsa-miR-548m	CLIP-seq
MIRT2634558	hsa-miR-548t	CLIP-seq
MIRT2634559	hsa-miR-656	CLIP-seq

Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	15718238, 24105263, 29858488, 32296183, 33961781
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005768	Component	Endosome	IDA	29858488
GO:0005768	Component	Endosome	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	24105263
GO:0005829	Component	Cytosol	TAS
GO:0015485	Function	Cholesterol binding	IBA
GO:0015485	Function	Cholesterol binding	IDA	15718238
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0030301	Process	Cholesterol transport	IBA
GO:0031902	Component	Late endosome membrane	IBA
GO:0031902	Component	Late endosome membrane	IDA	24105263
GO:0031902	Component	Late endosome membrane	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	15718238
GO:0044232	Component	Organelle membrane contact site	IDA	24105263, 29858488
GO:0099044	Process	Vesicle tethering to endoplasmic reticulum	IBA
GO:0099044	Process	Vesicle tethering to endoplasmic reticulum	IDA	24105263
GO:0140284	Component	Endoplasmic reticulum-endosome membrane contact site	IBA
GO:0140284	Component	Endoplasmic reticulum-endosome membrane contact site	IDA	24105263

MIM	HGNC	e!Ensembl
611759	19169	ENSG00000010270

O95772

Protein name

STARD3 N-terminal-like protein (MLN64 N-terminal domain homolog)

Protein function

Tethering protein that creates contact site between the endoplasmic reticulum and late endosomes: localizes to late endosome membranes and contacts the endoplasmic reticulum via interaction with VAPA and VAPB (PubMed:24105263). {ECO:0000269|PubM

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10457	MENTAL	49 → 214	Cholesterol-capturing domain	Domain

Sequence

MNHLPEDMENALTGSQSSHASLRNIHSINPTQLMARIESYEGREKKGISDVRRTFCLFVT
FDLLFVTLLWIIELNVNGGIENTLEKEVMQYDYYSSYFDIFLLAVFRFKVLILAYAVCRL
RHWWAIALTTAVTSAFLLAKVILSKLFSQGAFGYVLPIISFILAWIETWFLDFKVLPQEA
EEENRLLIVQDASERAALIPGGLSDGQFYSPPESEAGSEEAEEKQDSEKPLLEL

Sequence length

234

Interactions

View interactions

	Reactome
			Pregnenolone biosynthesis

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 (7)

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.
BONE DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE FRACTURE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUPUYTREN CONTRACTURE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FRONTOTEMPORAL DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (2)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Pseudomonas Infections	Associate	31047110	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Associate	34129933	★★★★★ ★☆☆☆☆ Found in Text Mining only

STARD3NL (STARD3 N-terminal like)