• Gene id: 9854

Gene Summary

• Gene Symbol: C2CD2L   Gene   UCSC   Ensembl
• Aliases: DLNB23, TMEM24
• Gene name: C2CD2 like
• Alternate names: phospholipid transfer protein C2CD2L, C2 domain-containing protein 2-like, transmembrane protein 24,
• Gene location: 11q23.3 (119106751: 119118543)     Exons: 15     NC_000011.10

SNPs

rs3000811

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.227400755G>A
NC_000001.11   g.227400755G>C
NC_000001.10   g.227588456G>A
NC_000001.10   g.227588456G>C|SEQ=[G/A/C]|GENE=LINC01641

Protein Summary

• Protein general information: O14523  
  • Name: Phospholipid transfer protein C2CD2L (C2 domain containing protein 2 like) (C2CD2 like) (Transmembrane protein 24)
  • Length: 706  
  • Mass: 76181
• Sequence:

  MDPGWGQRDVGWAALLILFAASLLTVFAWLLQYARGLWLARARGDRGPGPALAGEPAGSLRELGVWRSLLRLRAT
  RAGAAEEPGVRGLLASLFAFKSFRENWQRAWVRALNEQACRNGSSIQIAFEEVPQLPPRASISHVTCVDQSEHTM
  VLRCQLSAEEVRFPVSVTQQSPAAVSMETYHVTLTLPPTQLEVNLEEIPGEGLLISWAFTDRPDLSLTVLPKLQA
  RERGEEQVELSTIEELIKDAIVSTQPAMMVNLRACSAPGGLVPSEKPPMMPQAQPAIPRPNRLFLRQLRASHLGN
  ELEGTEELCCVAELDNPMQQKWTKPARAGSEVEWTEDLALDLGPQSRELTLKVLRSSSCGDTELLGQATLPVGSP
  SRPLSRRQLCPLTPGPGKALGPAATMAVELHYEEGSPRNLGTPTSSTPRPSITPTKKIELDRTIMPDGTIVTTVT
  TVQSRPRIDGKLDSPSRSPSKVEVTEKTTTVLSESSGPSNTSHSSSRDSHLSNGLDPVAETAIRQLTEPSGRVAK
  KTPTKRSTLIISGVSKVPIAQDELALSLGYAASLEASVQDDAGTSGGPSSPPSDPPAMSPGPLDALSSPTSVQEA
  DETTRSDISERPSVDDIESETGSTGALETRSLKDHKVSFLRSGTKLIFRRRPRQKEAGLSQSHDDLSNATATPSV
  RKKAGSFSRRLIKRFSFKSKPKANGNPSPQL

• Structural information:
  • Protein Domains: (76..26-)
    (/note="SMP-LBD-)
    (/evidence="ECO:0000244|PDB:5TOD,-ECO:0000269|PubMed:28209843)
    (268..38-)
    (/note="C2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041"-)
  • Interpro: IPR039934  IPR040885  
  • Prosite: PS50004
  • PDB: 5TOD
  • PDBsum: 5TOD
  • STRING: ENSP00000338885
• Other Databases: GeneCards:  C2CD2L  Malacards:  C2CD2L

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008526	phosphatidylinositol transfer activity	IDA	molecular function
GO:0140268	endoplasmic reticulum-plasma membrane contact site	IDA	cellular component
GO:0035091	phosphatidylinositol binding	IDA	molecular function
GO:0098592	cytoplasmic side of apical plasma membrane	IDA	colocalizes with
GO:0032541	cortical endoplasmic reticulum	IDA	cellular component
GO:0035774	positive regulation of insulin secretion involved in cellular response to glucose stimulus	IMP	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0006869	lipid transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
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: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:0005515	protein binding	IPI	molecular function
GO:0043559	insulin binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0035774	positive regulation of insulin secretion involved in cellular response to glucose stimulus	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0015914	phospholipid transport	IEA	biological process
GO:0120009	intermembrane lipid transfer	IEA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881