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

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	134829
Gene name Gene Name - the full gene name approved by the HGNC.	Clavesin 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CLVS2
Synonyms (NCBI Gene) Gene synonyms aliases	C6orf212, C6orf213, RLBP1L2, bA160A10.4
Chromosome Chromosome number	6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	6q22.31
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a protein that belongs to the SEC14/CRAL-TRIO family of proteins. A similar protein in rat is thought to function in the endosomal pathway between early endosomes and mature lysosomes. [provided by RefSeq, Aug 2013]

Show/Hide all(58)

miRTarBase ID	miRNA	Experiments	Reference
MIRT518665	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT518664	hsa-miR-5003-3p	HITS-CLIP	21572407
MIRT518663	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT707560	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT518662	hsa-miR-1257	HITS-CLIP	21572407
MIRT518661	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT518660	hsa-miR-6818-5p	HITS-CLIP	21572407
MIRT707559	hsa-miR-552-5p	HITS-CLIP	21572407
MIRT564190	hsa-miR-548aj-5p	PAR-CLIP	20371350
MIRT564189	hsa-miR-548f-5p	PAR-CLIP	20371350
MIRT564188	hsa-miR-548g-5p	PAR-CLIP	20371350
MIRT564187	hsa-miR-548x-5p	PAR-CLIP	20371350
MIRT564186	hsa-miR-1468-3p	PAR-CLIP	20371350
MIRT564185	hsa-miR-19a-3p	PAR-CLIP	20371350
MIRT564184	hsa-miR-19b-3p	PAR-CLIP	20371350
MIRT564183	hsa-miR-548aw	PAR-CLIP	20371350
MIRT564182	hsa-miR-568	PAR-CLIP	20371350
MIRT518665	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT518664	hsa-miR-5003-3p	PAR-CLIP	23446348
MIRT518663	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT518662	hsa-miR-1257	PAR-CLIP	23446348
MIRT518661	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT518660	hsa-miR-6818-5p	PAR-CLIP	23446348
MIRT442388	hsa-miR-3921	PAR-CLIP	22100165
MIRT442387	hsa-miR-4653-5p	PAR-CLIP	22100165
MIRT442386	hsa-miR-4682	PAR-CLIP	22100165
MIRT442385	hsa-miR-6780a-3p	PAR-CLIP	22100165
MIRT442384	hsa-miR-6807-5p	PAR-CLIP	22100165
MIRT442382	hsa-miR-8055	PAR-CLIP	22100165
MIRT518665	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT518664	hsa-miR-5003-3p	HITS-CLIP	21572407
MIRT518663	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT707560	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT518662	hsa-miR-1257	HITS-CLIP	21572407
MIRT518661	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT518660	hsa-miR-6818-5p	HITS-CLIP	21572407
MIRT707559	hsa-miR-552-5p	HITS-CLIP	21572407
MIRT564190	hsa-miR-548aj-5p	PAR-CLIP	20371350
MIRT564189	hsa-miR-548f-5p	PAR-CLIP	20371350
MIRT564188	hsa-miR-548g-5p	PAR-CLIP	20371350
MIRT564187	hsa-miR-548x-5p	PAR-CLIP	20371350
MIRT564186	hsa-miR-1468-3p	PAR-CLIP	20371350
MIRT564185	hsa-miR-19a-3p	PAR-CLIP	20371350
MIRT564184	hsa-miR-19b-3p	PAR-CLIP	20371350
MIRT564183	hsa-miR-548aw	PAR-CLIP	20371350
MIRT564182	hsa-miR-568	PAR-CLIP	20371350
MIRT518665	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT518664	hsa-miR-5003-3p	PAR-CLIP	23446348
MIRT518663	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT518662	hsa-miR-1257	PAR-CLIP	23446348
MIRT518661	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT518660	hsa-miR-6818-5p	PAR-CLIP	23446348
MIRT442388	hsa-miR-3921	PAR-CLIP	22100165
MIRT442387	hsa-miR-4653-5p	PAR-CLIP	22100165
MIRT442386	hsa-miR-4682	PAR-CLIP	22100165
MIRT442385	hsa-miR-6780a-3p	PAR-CLIP	22100165
MIRT442384	hsa-miR-6807-5p	PAR-CLIP	22100165
MIRT442382	hsa-miR-8055	PAR-CLIP	22100165

Show/Hide all(13)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005768	Component	Endosome	IBA	21873635
GO:0005768	Component	Endosome	IDA	19651769
GO:0005802	Component	Trans-Golgi network	IBA	21873635
GO:0005802	Component	Trans-Golgi network	ISS
GO:0007040	Process	Lysosome organization	IBA	21873635
GO:0007040	Process	Lysosome organization	ISS
GO:0030136	Component	Clathrin-coated vesicle	IBA	21873635
GO:0030136	Component	Clathrin-coated vesicle	ISS
GO:0031901	Component	Early endosome membrane	IEA
GO:0032588	Component	Trans-Golgi network membrane	TAS
GO:0080025	Function	Phosphatidylinositol-3,5-bisphosphate binding	IDA	19651769
GO:1902936	Function	Phosphatidylinositol bisphosphate binding	IBA	21873635

MIM	HGNC	e!Ensembl
616945	23046	ENSG00000146352

Protein

UniProt ID

Q5SYC1

Protein name

Clavesin-2 (Retinaldehyde-binding protein 1-like 2) (clathrin vesicle-associated Sec14 protein 2)

Protein function

Required for normal morphology of late endosomes and/or lysosomes in neurons (By similarity). Binds phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03765	CRAL_TRIO_N	3 → 74	CRAL/TRIO, N-terminal domain	Domain
PF00650	CRAL_TRIO	98 → 252	CRAL/TRIO domain	Domain

Sequence

MTHLQAGLSPETLEKARLELNENPDTLHQDIQEVRDMVITRPDIGFLRTDDAFILRFLRA
RKFHHFEAFRLLAQYFEYRQQNLDMFKSFKATDPGIKQALKDGFPGGLANLDHYGRKILV
LFAANWDQSRYTLVDILRAILLSLEAMIEDPELQVNGFVLIIDWSNFTFKQASKLTPSML
RLAIEGLQDSFPARFGGIHFVNQPWYIHALYTVIRPFLKEKTRKRIFLHGNNLNSLHQLI
HPEILPSEFGGMLPPYDMGTWARTLLDHEYDDDSEYNVDSYSMPVKEVEKELSPKSMKRS
QSVVDPTVLKRMDKNEEENMQPLLSLD

Sequence length

327

Interactions

View interactions

	Reactome
			Lysosome Vesicle Biogenesis

Show/Hide Causal Diseases (1)

Disease term	Disease name	dbSNP ID	References
Causal
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346 View all (12 more)	24482440

Show/Hide Text Mining Associations (1)

Disease Name	Relationship Type	References
Associations from Text Mining
Graves Ophthalmopathy	Associate	38130930

CLVS2 (clavesin 2)