CLVS2 (clavesin 2)

Gene

• Entrez ID: 134829
• Gene name: Clavesin 2
• Gene symbol: CLVS2
• Synonyms: C6orf212, C6orf213, RLBP1L2, bA160A10.4
• Chromosome: 6
• Chromosome location: 6q22.31
• Summary: 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]

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 616945
• HGNC: 23046
• e!Ensembl: 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

Pathways

Reactome:

Lysosome Vesicle Biogenesis

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	24482440