• Gene id: 4753

Gene Summary

• Gene Symbol: NELL2   Gene   UCSC   Ensembl
• Aliases: NRP2
• Gene name: neural EGFL like 2
• Alternate names: protein kinase C-binding protein NELL2, NEL-like protein 2, NEL-related protein 2, neural epidermal growth factor-like 2,
• Gene location: 12q12 (44921847: 44508274)     Exons: 26     NC_000012.12
• Gene summary(Entrez): The protein encoded by this gene is a glycoprotein containing several von Willebrand factor C domains and epidermal growth factor (EGF)-like domains. The encoded protein acts as a homotrimer and is found in the cytoplasm. Several variants encoding a few d
• OMIM: 187520

Protein Summary

• Protein general information: Q99435  
  • Name: Protein kinase C binding protein NELL2 (NEL like protein 2) (Nel related protein 2)
  • Length: 816  
  • Mass: 91346
• Sequence:

  MESRVLLRTFCLIFGLGAVWGLGVDPSLQIDVLTELELGESTTGVRQVPGLHNGTKAFLFQDTPRSIKASTATAE
  QFFQKLRNKHEFTILVTLKQTHLNSGVILSIHHLDHRYLELESSGHRNEVRLHYRSGSHRPHTEVFPYILADDKW
  HKLSLAISASHLILHIDCNKIYERVVEKPSTDLPLGTTFWLGQRNNAHGYFKGIMQDVQLLVMPQGFIAQCPDLN
  RTCPTCNDFHGLVQKIMELQDILAKTSAKLSRAEQRMNRLDQCYCERTCTMKGTTYREFESWIDGCKNCTCLNGT
  IQCETLICPNPDCPLKSALAYVDGKCCKECKSICQFQGRTYFEGERNTVYSSSGVCVLYECKDQTMKLVESSGCP
  ALDCPESHQITLSHSCCKVCKGYDFCSERHNCMENSICRNLNDRAVCSCRDGFRALREDNAYCEDIDECAEGRHY
  CRENTMCVNTPGSFMCICKTGYIRIDDYSCTEHDECITNQHNCDENALCFNTVGGHNCVCKPGYTGNGTTCKAFC
  KDGCRNGGACIAANVCACPQGFTGPSCETDIDECSDGFVQCDSRANCINLPGWYHCECRDGYHDNGMFSPSGESC
  EDIDECGTGRHSCANDTICFNLDGGYDCRCPHGKNCTGDCIHDGKVKHNGQIWVLENDRCSVCSCQNGFVMCRRM
  VCDCENPTVDLFCCPECDPRLSSQCLHQNGETLYNSGDTWVQNCQQCRCLQGEVDCWPLPCPDVECEFSILPENE
  CCPRCVTDPCQADTIRNDITKTCLDEMNVVRFTGSSWIKHGTECTLCQCKNGHICCSVDPQCLQEL

• Structural information:
  • Protein Domains: (64..22-)
    (/note="Laminin-G-like)
    (272..33-)
    (/note="VWFC-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00220-)
    (397..43-)
    (/note="EGF-like-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-)
    (440..48-)
    (/note="EGF-like-)
    (-)
  • Interpro: IPR013320  IPR001881  IPR013032  IPR000742  IPR000152   IPR018097  IPR009030  IPR001791  IPR001007  
  • Prosite: PS00010 PS00022 PS01186 PS50026 PS01187 PS01208 PS50184
  • DIP: 49927
  • STRING: ENSP00000416341
• Other Databases: GeneCards:  NELL2  Malacards:  NELL2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0008201	heparin binding	IBA	molecular function
GO:0005080	protein kinase C binding	IBA	molecular function
GO:0070050	neuron cellular homeostasis	ISS	biological process
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0008201	heparin binding	IBA	molecular function
GO:0005080	protein kinase C binding	IBA	molecular function
GO:0070050	neuron cellular homeostasis	ISS	biological process
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray