• Gene id: 10826

Gene Summary

• Gene Symbol: FAXDC2   Gene   UCSC   Ensembl
• Aliases: C5orf4
• Gene name: fatty acid hydroxylase domain containing 2
• Alternate names: fatty acid hydroxylase domain-containing protein 2,
• Gene location: 5q33.2 (154850682: 154817017)     Exons: 11     NC_000005.10
• OMIM: 615514

Protein Summary

• Protein general information: Q96IV6  
  • Name: Fatty acid hydroxylase domain containing protein 2
  • Length: 333  
  • Mass: 39002
  • Tissue specificity: Down-regulated in primary acute myeloid leukemia (AML) patients. {ECO
• Sequence:

  MKGEAGHMLHNEKSKQEGHIWGSMRRTAFILGSGLLSFVAFWNSVTWHLQRFWGASGYFWQAQWERLLTTFEGKE
  WILFFIGAIQVPCLFFWSFNGLLLVVDTTGKPNFISRYRIQVGKNEPVDPVKLRQSIRTVLFNQCMISFPMVVFL
  YPFLKWWRDPCRRELPTFHWFLLELAIFTLIEEVLFYYSHRLLHHPTFYKKIHKKHHEWTAPIGVISLYAHPIEH
  AVSNMLPVIVGPLVMGSHLSSITMWFSLALIITTISHCGYHLPFLPSPEFHDYHHLKFNQCYGVLGVLDHLHGTD
  TMFKQTKAYERHVLLLGFTPLSESIPDSPKRME

• Structural information:
  • Protein Domains: (176..29-)
    hydroxylase (/note="Fatty-acid)
    (/evidence="ECO:0000255"-)
  • Interpro: IPR006694  
  • STRING: ENSP00000320604
• Other Databases: GeneCards:  FAXDC2  Malacards:  FAXDC2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0000254	C-4 methylsterol oxidase activity	IBA	molecular function
GO:0016020	membrane	IBA	cellular component
GO:0016126	sterol biosynthetic process	IBA	biological process
GO:0016491	oxidoreductase activity	IBA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0001934	positive regulation of protein phosphorylation	IMP	biological process
GO:0045654	positive regulation of megakaryocyte differentiation	IMP	biological process
GO:0005506	iron ion binding	IEA	molecular function
GO:0008610	lipid biosynthetic process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005737	cytoplasm	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:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Male factor infertility	MIK: 29961538

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq