PACSIN2 (protein kinase C and casein kinase substrate in neurons 2)

Gene

• Entrez ID: 11252
• Gene name: Protein kinase C and casein kinase substrate in neurons 2
• Gene symbol: PACSIN2
• Synonyms (NCBI Gene): SDPII
• Chromosome: 22
• Chromosome location: 22q13.2
• Summary: This gene is a member of the protein kinase C and casein kinase substrate in neurons family. The encoded protein is involved in linking the actin cytoskeleton with vesicle formation by regulating tubulin polymerization. Alternative splicing results in mul

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020597	hsa-miR-155-5p	Proteomics	18668040
MIRT041342	hsa-miR-193b-3p	CLASH	23622248
MIRT461118	hsa-miR-4433b-3p	PAR-CLIP	23592263
MIRT461117	hsa-miR-3681-5p	PAR-CLIP	23592263
MIRT461116	hsa-miR-6849-5p	PAR-CLIP	23592263
MIRT461115	hsa-miR-873-5p	PAR-CLIP	23592263
MIRT461114	hsa-miR-1286	PAR-CLIP	23592263
MIRT461113	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT461112	hsa-miR-6124	PAR-CLIP	23592263
MIRT461111	hsa-miR-3691-5p	PAR-CLIP	23592263
MIRT447675	hsa-miR-548av-3p	PAR-CLIP	22100165
MIRT447674	hsa-miR-548g-3p	PAR-CLIP	22100165
MIRT447673	hsa-miR-548u	PAR-CLIP	22100165
MIRT447671	hsa-miR-7161-5p	PAR-CLIP	22100165
MIRT447672	hsa-miR-8087	PAR-CLIP	22100165
MIRT447675	hsa-miR-548av-3p	PAR-CLIP	22100165
MIRT447674	hsa-miR-548g-3p	PAR-CLIP	22100165
MIRT447673	hsa-miR-548u	PAR-CLIP	22100165
MIRT447671	hsa-miR-7161-5p	PAR-CLIP	22100165
MIRT447672	hsa-miR-8087	PAR-CLIP	22100165
MIRT461118	hsa-miR-4433b-3p	PAR-CLIP	23592263
MIRT461117	hsa-miR-3681-5p	PAR-CLIP	23592263
MIRT461116	hsa-miR-6849-5p	PAR-CLIP	23592263
MIRT461115	hsa-miR-873-5p	PAR-CLIP	23592263
MIRT461114	hsa-miR-1286	PAR-CLIP	23592263
MIRT461113	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT461112	hsa-miR-6124	PAR-CLIP	23592263
MIRT461111	hsa-miR-3691-5p	PAR-CLIP	23592263
MIRT447675	hsa-miR-548av-3p	PAR-CLIP	22100165
MIRT447674	hsa-miR-548g-3p	PAR-CLIP	22100165
MIRT447673	hsa-miR-548u	PAR-CLIP	22100165
MIRT447671	hsa-miR-7161-5p	PAR-CLIP	22100165
MIRT447672	hsa-miR-8087	PAR-CLIP	22100165
MIRT447675	hsa-miR-548av-3p	PAR-CLIP	22100165
MIRT447674	hsa-miR-548g-3p	PAR-CLIP	22100165
MIRT447673	hsa-miR-548u	PAR-CLIP	22100165
MIRT447671	hsa-miR-7161-5p	PAR-CLIP	22100165
MIRT447672	hsa-miR-8087	PAR-CLIP	22100165
MIRT1210122	hsa-miR-1238	CLIP-seq
MIRT1210123	hsa-miR-3671	CLIP-seq
MIRT1210124	hsa-miR-4422	CLIP-seq
MIRT1210125	hsa-miR-4427	CLIP-seq
MIRT1210126	hsa-miR-4509	CLIP-seq
MIRT1210127	hsa-miR-4680-3p	CLIP-seq
MIRT1210128	hsa-miR-4744	CLIP-seq
MIRT1210129	hsa-miR-586	CLIP-seq
MIRT1210130	hsa-miR-4474-5p	CLIP-seq
MIRT1210131	hsa-miR-4714-5p	CLIP-seq
MIRT1210132	hsa-miR-4764-3p	CLIP-seq
MIRT1210133	hsa-miR-4778-3p	CLIP-seq
MIRT1210134	hsa-miR-618	CLIP-seq
MIRT1210135	hsa-miR-1471	CLIP-seq
MIRT1210136	hsa-miR-216a	CLIP-seq
MIRT1210137	hsa-miR-320a	CLIP-seq
MIRT1210138	hsa-miR-320b	CLIP-seq
MIRT1210139	hsa-miR-320c	CLIP-seq
MIRT1210140	hsa-miR-320d	CLIP-seq
MIRT1210141	hsa-miR-3679-3p	CLIP-seq
MIRT1210142	hsa-miR-4429	CLIP-seq
MIRT1210125	hsa-miR-4427	CLIP-seq
MIRT2060256	hsa-miR-128	CLIP-seq
MIRT2060257	hsa-miR-555	CLIP-seq
MIRT2288649	hsa-miR-329	CLIP-seq
MIRT2288650	hsa-miR-362-3p	CLIP-seq
MIRT2288651	hsa-miR-3941	CLIP-seq
MIRT2288652	hsa-miR-603	CLIP-seq
MIRT2288653	hsa-miR-1185	CLIP-seq
MIRT2288654	hsa-miR-3605-5p	CLIP-seq
MIRT2288655	hsa-miR-3679-5p	CLIP-seq
MIRT2392043	hsa-miR-1908	CLIP-seq
MIRT2392044	hsa-miR-3180	CLIP-seq
MIRT2392045	hsa-miR-3180-3p	CLIP-seq
MIRT2392046	hsa-miR-3184	CLIP-seq
MIRT2392047	hsa-miR-3196	CLIP-seq
MIRT2392048	hsa-miR-423-5p	CLIP-seq
MIRT2392049	hsa-miR-4706	CLIP-seq
MIRT2392050	hsa-miR-4728-5p	CLIP-seq
MIRT2392051	hsa-miR-4749-5p	CLIP-seq
MIRT2392052	hsa-miR-663	CLIP-seq
MIRT2442440	hsa-miR-1178	CLIP-seq
MIRT2442441	hsa-miR-1257	CLIP-seq
MIRT2442442	hsa-miR-3617	CLIP-seq
MIRT2442443	hsa-miR-4261	CLIP-seq
MIRT2442444	hsa-miR-4436b-5p	CLIP-seq
MIRT2442445	hsa-miR-451b	CLIP-seq
MIRT2442446	hsa-miR-4686	CLIP-seq
MIRT2442447	hsa-miR-4696	CLIP-seq
MIRT2442448	hsa-miR-641	CLIP-seq
MIRT2442449	hsa-miR-767-3p	CLIP-seq
MIRT2442450	hsa-miR-875-3p	CLIP-seq
MIRT2455796	hsa-miR-1179	CLIP-seq
MIRT2455797	hsa-miR-1276	CLIP-seq
MIRT2442440	hsa-miR-1178	CLIP-seq
MIRT2442441	hsa-miR-1257	CLIP-seq
MIRT2442443	hsa-miR-4261	CLIP-seq
MIRT2442449	hsa-miR-767-3p	CLIP-seq
MIRT2442450	hsa-miR-875-3p	CLIP-seq
MIRT2442440	hsa-miR-1178	CLIP-seq
MIRT2442442	hsa-miR-3617	CLIP-seq
MIRT2442443	hsa-miR-4261	CLIP-seq
MIRT2442444	hsa-miR-4436b-5p	CLIP-seq
MIRT2442445	hsa-miR-451b	CLIP-seq
MIRT2442446	hsa-miR-4686	CLIP-seq
MIRT2442447	hsa-miR-4696	CLIP-seq
MIRT2442448	hsa-miR-641	CLIP-seq
MIRT2442449	hsa-miR-767-3p	CLIP-seq
MIRT2442450	hsa-miR-875-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002042	Process	Cell migration involved in sprouting angiogenesis	IEA
GO:0002042	Process	Cell migration involved in sprouting angiogenesis	ISS
GO:0002042	Process	Cell migration involved in sprouting angiogenesis	ISS
GO:0005515	Function	Protein binding	IPI	16189514, 16318909, 16551695, 20936779, 21044950, 23596323, 25036101, 25416956, 31413325, 32296183, 33961781, 35271311
GO:0005543	Function	Phospholipid binding	IBA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	10431838
GO:0005768	Component	Endosome	IBA
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005901	Component	Caveola	IDA	21610094, 24013648
GO:0005901	Component	Caveola	IEA
GO:0005911	Component	Cell-cell junction	IEA
GO:0005912	Component	Adherens junction	IEA
GO:0005912	Component	Adherens junction	IEA
GO:0005912	Component	Adherens junction	ISS
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0005929	Component	Cilium	IDA
GO:0006897	Process	Endocytosis	IEA
GO:0007010	Process	Cytoskeleton organization	IBA
GO:0008092	Function	Cytoskeletal protein binding	IEA
GO:0008289	Function	Lipid binding	IEA
GO:0016020	Component	Membrane	IEA
GO:0016607	Component	Nuclear speck	IDA
GO:0030036	Process	Actin cytoskeleton organization	IEA
GO:0030036	Process	Actin cytoskeleton organization	TAS	10431838
GO:0030100	Process	Regulation of endocytosis	IBA
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0030674	Function	Protein-macromolecule adaptor activity	IEA
GO:0030674	Function	Protein-macromolecule adaptor activity	ISS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032587	Component	Ruffle membrane	IEA
GO:0034451	Component	Centriolar satellite	IDA
GO:0036010	Process	Protein localization to endosome	IMP	23596323
GO:0042802	Function	Identical protein binding	IPI	16189514, 20188097, 25416956, 31515488, 32296183
GO:0042995	Component	Cell projection	IEA
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0045806	Process	Negative regulation of endocytosis	IEA
GO:0048858	Process	Cell projection morphogenesis	IEA
GO:0048858	Process	Cell projection morphogenesis	ISS
GO:0050804	Process	Modulation of chemical synaptic transmission	IEA
GO:0055038	Component	Recycling endosome membrane	IDA	23596323
GO:0055038	Component	Recycling endosome membrane	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070161	Component	Anchoring junction	IEA
GO:0070300	Function	Phosphatidic acid binding	IDA	23596323
GO:0070836	Process	Caveola assembly	IEA
GO:0070836	Process	Caveola assembly	IMP	21610094
GO:0072584	Process	Caveolin-mediated endocytosis	IMP	21610094
GO:0097320	Process	Plasma membrane tubulation	IBA
GO:0097320	Process	Plasma membrane tubulation	IDA	23596323
GO:0097320	Process	Plasma membrane tubulation	IEA
GO:0097320	Process	Plasma membrane tubulation	ISS
GO:0098978	Component	Glutamatergic synapse	IEA

Other IDs

• MIM: 604960
• HGNC: 8571
• e!Ensembl: ENSG00000100266

Protein

• UniProt ID: Q9UNF0
• Protein name: Protein kinase C and casein kinase substrate in neurons protein 2 (Syndapin-2) (Syndapin-II) (SdpII)
• Protein function: Regulates the morphogenesis and endocytosis of caveolae (By similarity). Lipid-binding protein that is able to promote the tubulation of the phosphatidic acid-containing membranes it preferentially binds. Plays a role in intracellular vesicle-me
• PDB: 3ABH, 3ACO, 3HAJ, 3Q0K
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00611	FCH	23 → 99	Fes/CIP4, and EFC/F-BAR homology domain	Family
  PF00018	SH3_1	432 → 479	SH3 domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:11082044, ECO:0000269|PubMed:11179684}.
• Sequence:

  MSVTYDDSVGVEVSSDSFWEVGNYKRTVKRIDDGHRLCSDLMNCLHERARIEKAYAQQLT
  EWARRWRQLVEKGPQYGTVEKAWMAFMSEAERVSELHLEVKASLMNDDFEKIKNWQKEAF
  HKQMMGGFKETKEAEDGFRKAQKPWAKKLKEVEAAKKAHHAACKEEKLAISREANSKADP
  SLNPEQLKKLQDKIEKCKQDVLKTKEKYEKSLKELDQGTPQYMENMEQVFEQCQQFEEKR
  LRFFREVLLEVQKHLDLSNVAGYKAIYHDLEQSIRAADAVEDLRWFRANHGPGMAMNWPQ
  FEEWSADLNRTLSRREKKKATDGVTLTGINQTGDQSLPSKPSSTLNVPSNPAQSAQSQSS
  YNPFEDEDDTGSTVSEKDDTKAKNVSSYEKTQSYPTDWSDDESNNPFSSTDANGDSNPFD
  DDATSGTEVRVRALYDYEGQEHDELSFKAGDELTKMEDEDEQGWCKGRLDNGQVGLYPAN
  YVEAIQ

• Sequence length: 486

Pathways

Reactome:

Clathrin-mediated endocytosis

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ARTHRITIS, JUVENILE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE CHRONIC POLYARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MONOARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoepithelial tumor	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAUCIARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	27452984, 31792371		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	31792371		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	36672180	Associate	★☆☆☆☆ Found in Text Mining only
Blast Crisis	Blast crisis	Pubtator	35352878	Associate	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	36672180	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	29107716		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	27452984, 31792371		★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	36672180	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	32041280	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	28550045		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	22846425, 31792371	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	27452984, 31792371	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	31792371		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	31792371	Associate	★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Juvenile psoriatic arthritis	Juvenile arthritis	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Juvenile-Onset Still Disease	Still Disease	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	22846425		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	34684727	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	36672180	Associate	★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Negative	Seronegative polyarthritis	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Positive	Polyarthritis, Rheumatoid Factor Positive	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Stomatitis	Stomatitis	Pubtator	27452984	Associate	★☆☆☆☆ Found in Text Mining only