• Gene id: 11252

Gene Summary

• Gene Symbol: PACSIN2   Gene   UCSC   Ensembl
• Aliases: SDPII
• Gene name: protein kinase C and casein kinase substrate in neurons 2
• Alternate names: protein kinase C and casein kinase substrate in neurons protein 2, cytoplasmic phosphoprotein PACSIN2, syndapin-2, syndapin-II, syndapin2,
• Gene location: 22q13.2 (43015175: 42869765)     Exons: 15     NC_000022.11
• Gene summary(Entrez): 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
• OMIM: 604960

Protein Summary

• Protein general information: Q9UNF0  
  • Name: Protein kinase C and casein kinase substrate in neurons protein 2 (Syndapin 2) (Syndapin II) (SdpII)
  • Length: 486  
  • Mass: 55739
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MSVTYDDSVGVEVSSDSFWEVGNYKRTVKRIDDGHRLCSDLMNCLHERARIEKAYAQQLTEWARRWRQLVEKGPQ
  YGTVEKAWMAFMSEAERVSELHLEVKASLMNDDFEKIKNWQKEAFHKQMMGGFKETKEAEDGFRKAQKPWAKKLK
  EVEAAKKAHHAACKEEKLAISREANSKADPSLNPEQLKKLQDKIEKCKQDVLKTKEKYEKSLKELDQGTPQYMEN
  MEQVFEQCQQFEEKRLRFFREVLLEVQKHLDLSNVAGYKAIYHDLEQSIRAADAVEDLRWFRANHGPGMAMNWPQ
  FEEWSADLNRTLSRREKKKATDGVTLTGINQTGDQSLPSKPSSTLNVPSNPAQSAQSQSSYNPFEDEDDTGSTVS
  EKDDTKAKNVSSYEKTQSYPTDWSDDESNNPFSSTDANGDSNPFDDDATSGTEVRVRALYDYEGQEHDELSFKAG
  DELTKMEDEDEQGWCKGRLDNGQVGLYPANYVEAIQ

• Structural information:
  • Protein Domains: (11..28-)
    (/note="F-BAR-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01077-)
    (426..48-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192"-)
  • Interpro: IPR027267  IPR031160  IPR001060  IPR035743  IPR028521   IPR037453  IPR036028  IPR001452  
  • Prosite: PS51741 PS50002
  • CDD: cd07679 cd11998
  • PDB: 3ABH 3ACO 3HAJ 3Q0K
  • PDBsum: 3ABH 3ACO 3HAJ 3Q0K
  • STRING: ENSP00000263246
• Other Databases: GeneCards:  PACSIN2  Malacards:  PACSIN2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0097320	plasma membrane tubulation	IBA	biological process
GO:0030100	regulation of endocytosis	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0005856	cytoskeleton	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0005543	phospholipid binding	IBA	molecular function
GO:0008092	cytoskeletal protein binding	IBA	molecular function
GO:0007010	cytoskeleton organization	IBA	biological process
GO:0005768	endosome	IBA	cellular component
GO:0055038	recycling endosome membrane	IDA	cellular component
GO:0005901	caveola	IDA	cellular component
GO:0097320	plasma membrane tubulation	IDA	biological process
GO:0070300	phosphatidic acid binding	IDA	molecular function
GO:0072584	caveolin-mediated endocytosis	IMP	biological process
GO:0048858	cell projection morphogenesis	ISS	biological process
GO:0019898	extrinsic component of membrane	ISS	cellular component
GO:0097320	plasma membrane tubulation	ISS	biological process
GO:0070836	caveola assembly	IMP	biological process
GO:0036010	protein localization to endosome	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030036	actin cytoskeleton organization	IEA	biological process
GO:0070836	caveola assembly	IEA	biological process
GO:0097320	plasma membrane tubulation	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006897	endocytosis	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005215	transporter activity	TAS	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0030036	actin cytoskeleton organization	TAS	biological process
GO:0005901	caveola	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0061024	membrane organization	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0050804	modulation of chemical synaptic transmission	IEA	biological process
GO:0097320	plasma membrane tubulation	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0005901	caveola	IEA	cellular component
GO:0005911	cell-cell junction	IEA	cellular component
GO:0008092	cytoskeletal protein binding	IEA	molecular function
GO:0008289	lipid binding	IEA	molecular function
GO:0019898	extrinsic component of membrane	IEA	cellular component
GO:0045806	negative regulation of endocytosis	IEA	biological process
GO:0048858	cell projection morphogenesis	IEA	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0045296	cadherin binding	HDA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005769	early endosome	IEA	cellular component
GO:0030659	cytoplasmic vesicle membrane	IEA	cellular component
GO:0032587	ruffle membrane	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0005901	caveola	IEA	cellular component
GO:0055038	recycling endosome membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005925	focal adhesion	HDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq