• Gene id: 388125

Gene Summary

• Gene Symbol: C2CD4B   Gene   UCSC   Ensembl
• Aliases: FAM148B, NLF2
• Gene name: C2 calcium dependent domain containing 4B
• Alternate names: C2 calcium-dependent domain-containing protein 4B, family with sequence similarity 148, member B, nuclear localized factor 2,
• Gene location: 15q22.2 (118136123: 118145583)     Exons: 4     NC_000012.12
• OMIM: 610344

Protein Summary

• Protein general information: A6NLJ0  
  • Name: C2 calcium dependent domain containing protein 4B (Nuclear localized factor 2) (Protein FAM148B)
  • Length: 364  
  • Mass: 38769
  • Tissue specificity: Specifically expressed in endothelial cells. {ECO
• Sequence:

  MRLLEKLCSSAAGSSAPKPAFAKVLTPNRIPEFCIPPRLPAPCTLESPIRAAAVPRRCAAESDLWPRAADEDAGR
  TDWDPRSQAALSLPHLPRVRTTYGFCALLESPHTRRKESLLLGGPPAPRPRAHSCGGGGGPDAPLGTLCGPRGPG
  PATPAAPGGPRLPQDALAAGPRRCRLLRVPDGLLSRALRAGRSRRLARVRSVSSGNEDEERRAGSESPARAPSSS
  PLSSRAPLPERLEAKGTVALGRAGDALRLAAEYCPGTRRLRLRLLRAESLFGGAPGPRAVRCRLSLVLRPPGTAR
  WQCSAVVGRSRKASFDQDFCFDGLSEDEVRRLAVRVKARDEGRGRDRGRLLGQGELSLGALLLL

• Structural information:
  • Protein Domains: (248..36-)
    (/note="C2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041"-)
  • Interpro: IPR039208  IPR035892  
  • Prosite: PS50004
  • STRING: ENSP00000369755
• Other Databases: GeneCards:  C2CD4B  Malacards:  C2CD4B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0002675	positive regulation of acute inflammatory response	IDA	biological process
GO:0030155	regulation of cell adhesion	IDA	biological process
GO:0002528	regulation of vascular permeability involved in acute inflammatory response	IDA	biological process
GO:0005634	nucleus	NAS	cellular component

Diseases

Associated diseases	References
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)