• Gene id: 25966

Gene Summary

• Gene Symbol: C2CD2   Gene   UCSC   Ensembl
• Aliases: C21orf25, C21orf258, TMEM24L
• Gene name: C2 calcium dependent domain containing 2
• Alternate names: C2 domain-containing protein 2, TMEM24 related geme, transmembrane protein 24-like,
• Gene location: 21q22.3 (41954017: 41885109)     Exons: 17     NC_000021.9
• OMIM: 617581

Protein Summary

• Protein general information: Q9Y426  
  • Name: C2 domain containing protein 2 (Transmembrane protein 24 like)
  • Length: 696  
  • Mass: 75533
• Sequence:

  MAMARLGSWLGEAQWLALVSLFVAALATVGLYLAQWALARARPQPQRRAVEPGEGPRPGSDALLSWILTLGSWRS
  QWQAAWVTALNEEAERKGGPPFLSFEEDPRQQALELVVQEVSSVLRSAEEKVVVCHVVGQAIQFLVSETPALGAG
  CRLYDMRLSPFHLQLEFHMKEKREDLQISWSFISVPEMAVNIQPKALGEDQVAETSAMSDVLKDILKHLAGSASP
  SVVLITKPTTVKEAQNLQCAASTAQESCPPKPPRAHELKLLVRNIHVLLLSEPGASGHINAVCVVQLNDPVQRFS
  STLTKNTPDLMWEEEFTFELNAKSKELHLQISEAGRSSEGLLATATVPLDLFKKQPSGPQSFTLTSGSACGSSVL
  GSVTAEFSYMEPGELKSWPIPPPVPAAKIEKDRTVMPCGTVVTTVTAVKTKPRVDVGRASPLSSDSPVKTPIKVK
  VIEKDISVQAIACRSAPVSKTLSSSDTELLVLNGSDPVAEVAIRQLSESSKLKLKSPRKKSTIIISGISKTSLSQ
  DHDAALMQGYTASVDSTHQEDAPSHPERAAASAPPEEAESAQASLAPKPQEDELDSWDLEKEPQAAAWSSQVLLD
  PDGDELSESSMSVLEPGTAKKHKGGILRKGAKLFFRRRHQQKDPGMSQSHNDLVFLEQPEGSRRKGITLTRILNK
  KLLSRHRNKNTMNGAPVEPCT

• Structural information:
  • Protein Domains: (51..24-)
    (/note="SMP-LBD-)
    (/evidence="ECO:0000305-)
    (245..36-)
    (/note="C2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041"-)
  • Interpro: IPR000008  IPR035892  IPR039934  IPR040885  
  • Prosite: PS50004
  • STRING: ENSP00000369853
• Other Databases: GeneCards:  C2CD2  Malacards:  C2CD2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	HDA	cellular component
GO:0005829	cytosol	HDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq