• Gene id: 57537

Gene Summary

• Gene Symbol: SORCS2   Gene   UCSC   Ensembl
• Gene name: sortilin related VPS10 domain containing receptor 2
• Alternate names: VPS10 domain-containing receptor SorCS2, VPS10 domain receptor protein,
• Gene location: 4p16.1 (7192537: 7742827)     Exons: 29     NC_000004.12
• Gene summary(Entrez): This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many e
• OMIM: 606284

Protein Summary

• Protein general information: Q96PQ0  
  • Name: VPS10 domain containing receptor SorCS2 [Cleaved into: SorCS2 122 kDa chain; SorCS2 104 kDa chain; SorCS2 18 kDa chain]
  • Length: 1159  
  • Mass: 128152
  • Tissue specificity: Detected on neurons in the caudate region (PubMed
• Sequence:

  MAHRGPSRASKGPGPTARAPSPGAPPPPRSPRSRPLLLLLLLLGACGAAGRSPEPGRLGPHAQLTRVPRSPPAGR
  AEPGGGEDRQARGTEPGAPGPSPGPAPGPGEDGAPAAGYRRWERAAPLAGVASRAQVSLISTSFVLKGDATHNQA
  MVHWTGENSSVILILTKYYHADMGKVLESSLWRSSDFGTSYTKLTLQPGVTTVIDNFYICPTNKRKVILVSSSLS
  DRDQSLFLSADEGATFQKQPIPFFVETLIFHPKEEDKVLAYTKESKLYVSSDLGKKWTLLQERVTKDHVFWSVSG
  VDADPDLVHVEAQDLGGDFRYVTCAIHNCSEKMLTAPFAGPIDHGSLTVQDDYIFFKATSANQTKYYVSYRRNEF
  VLMKLPKYALPKDLQIISTDESQVFVAVQEWYQMDTYNLYQSDPRGVRYALVLQDVRSSRQAEESVLIDILEVRG
  VKGVFLANQKIDGKVMTLITYNKGRDWDYLRPPSMDMNGKPTNCKPPDCHLHLHLRWADNPYVSGTVHTKDTAPG
  LIMGAGNLGSQLVEYKEEMYITSDCGHTWRQVFEEEHHILYLDHGGVIVAIKDTSIPLKILKFSVDEGLTWSTHN
  FTSTSVFVDGLLSEPGDETLVMTVFGHISFRSDWELVKVDFRPSFSRQCGEEDYSSWELSNLQGDRCIMGQQRSF
  RKRKSTSWCIKGRSFTSALTSRVCECRDSDFLCDYGFERSSSSESSTNKCSANFWFNPLSPPDDCALGQTYTSSL
  GYRKVVSNVCEGGVDMQQSQVQLQCPLTPPRGLQVSIQGEAVAVRPGEDVLFVVRQEQGDVLTTKYQVDLGDGFK
  AMYVNLTLTGEPIRHRYESPGIYRVSVRAENTAGHDEAVLFVQVNSPLQALYLEVVPVIGLNQEVNLTAVLLPLN
  PNLTVFYWWIGHSLQPLLSLDNSVTTRFSDTGDVRVTVQAACGNSVLQDSRVLRVLDQFQVMPLQFSKELDAYNP
  NTPEWREDVGLVVTRLLSKETSVPQELLVTVVKPGLPTLADLYVLLPPPRPTRKRSLSSDKRLAAIQQVLNAQKI
  SFLLRGGVRVLVALRDTGTGAEQLGGGGGYWAVVVLFVIGLFAAGAFILYKFKRKRPGRTVYAQMHNEKEQEMTS
  PVSHSEDVQGAVQGNHSGVVLSINSREMHSYLVS

• Structural information:
  • Protein Domains: (786..87-)
    (/note="PKD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00151"-)
  • Interpro: IPR013783  IPR022409  IPR000601  IPR035986  IPR031777   IPR031778  IPR006581  IPR015943  
  • Prosite: PS50093
  • PDB: 1WGO
  • PDBsum: 1WGO
  • STRING: ENSP00000422185
• Other Databases: GeneCards:  SORCS2  Malacards:  SORCS2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016021	integral component of membrane	IBA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0055038	recycling endosome membrane	IEA	cellular component
GO:0031901	early endosome membrane	IEA	cellular component
GO:0060292	long-term synaptic depression	IEA	biological process
GO:0014069	postsynaptic density	IEA	cellular component
GO:0006886	intracellular protein transport	IEA	biological process
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0030659	cytoplasmic vesicle membrane	IEA	cellular component
GO:0098839	postsynaptic density membrane	IEA	cellular component
GO:0031901	early endosome membrane	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0055038	recycling endosome membrane	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0043204	perikaryon	IEA	cellular component
GO:0043197	dendritic spine	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	NAS	cellular component
GO:0008188	neuropeptide receptor activity	NAS	molecular function
GO:0007218	neuropeptide signaling pathway	NAS	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray