• Gene id: 55681

Gene Summary

• Gene Symbol: SCYL2   Gene   UCSC   Ensembl
• Aliases: AMCNACC, CVAK104
• Gene name: SCY1 like pseudokinase 2
• Alternate names: SCY1-like protein 2, SCY1-like 2, SCY1-like, kinase-like 2, coated vesicle-associated kinase of 104 kDa,
• Gene location: 12q23.1 (100267139: 100341723)     Exons: 20     NC_000012.12
• Gene summary(Entrez): The protein encoded by this gene associates with clathrin-coated complexes at the plasma membrane and with endocytic coated vesicles. The encoded protein phosphorylates the beta2 subunit of the plasma membrane adapter complex AP2 and interacts with clathr
• OMIM: 616365

Protein Summary

• Protein general information: Q6P3W7  
  • Name: SCY1 like protein 2 (Coated vesicle associated kinase of 104 kDa)
  • Length: 929  
  • Mass: 103709
• Sequence:

  MESMLNKLKSTVTKVTADVTSAVMGNPVTREFDVGRHIASGGNGLAWKIFNGTKKSTKQEVAVFVFDKKLIDKYQ
  KFEKDQIIDSLKRGVQQLTRLRHPRLLTVQHPLEESRDCLAFCTEPVFASLANVLGNWENLPSPISPDIKDYKLY
  DVETKYGLLQVSEGLSFLHSSVKMVHGNITPENIILNKSGAWKIMGFDFCVSSTNPSEQEPKFPCKEWDPNLPSL
  CLPNPEYLAPEYILSVSCETASDMYSLGTVMYAVFNKGKPIFEVNKQDIYKSFSRQLDQLSRLGSSSLTNIPEEV
  REHVKLLLNVTPTVRPDADQMTKIPFFDDVGAVTLQYFDTLFQRDNLQKSQFFKGLPKVLPKLPKRVIVQRILPC
  LTSEFVNPDMVPFVLPNVLLIAEECTKEEYVKLILPELGPVFKQQEPIQILLIFLQKMDLLLTKTPPDEIKNSVL
  PMVYRALEAPSIQIQELCLNIIPTFANLIDYPSMKNALIPRIKNACLQTSSLAVRVNSLVCLGKILEYLDKWFVL
  DDILPFLQQIPSKEPAVLMGILGIYKCTFTHKKLGITKEQLAGKVLPHLIPLSIENNLNLNQFNSFISVIKEMLN
  RLESEHKTKLEQLHIMQEQQKSLDIGNQMNVSEEMKVTNIGNQQIDKVFNNIGADLLTGSESENKEDGLQNKHKR
  ASLTLEEKQKLAKEQEQAQKLKSQQPLKPQVHTPVATVKQTKDLTDTLMDNMSSLTSLSVSTPKSSASSTFTSVP
  SMGIGMMFSTPTDNTKRNLTNGLNANMGFQTSGFNMPVNTNQNFYSSPSTVGVTKMTLGTPPTLPNFNALSVPPA
  GAKQTQQRPTDMSALNNLFGPQKPKVSMNQLSQQKPNQWLNQFVPPQGSPTMGSSVMGTQMNVIGQSAFGMQGNP
  FFNPQNFAQPPTTMTNSSSASNDLKDLFG

• Structural information:
  • Protein Domains: (32..32-)
    (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159"-)
  • Interpro: IPR011989  IPR016024  IPR011009  IPR000719  
  • Prosite: PS50011
  • STRING: ENSP00000354061
• Other Databases: GeneCards:  SCYL2  Malacards:  SCYL2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007420	brain development	ISS	biological process
GO:0004672	protein kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005102	signaling receptor binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008333	endosome to lysosome transport	IDA	biological process
GO:2000286	receptor internalization involved in canonical Wnt signaling pathway	IDA	biological process
GO:0002092	positive regulation of receptor internalization	IDA	biological process
GO:0090090	negative regulation of canonical Wnt signaling pathway	IDA	biological process
GO:2000370	positive regulation of clathrin-dependent endocytosis	IDA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0030136	clathrin-coated vesicle	IEA	cellular component
GO:0010008	endosome membrane	IEA	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			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq