FAXDC2 (fatty acid hydroxylase domain containing 2)

Gene

• Entrez ID: 10826
• Gene name: Fatty acid hydroxylase domain containing 2
• Gene symbol: FAXDC2
• Synonyms (NCBI Gene): C5orf4
• Chromosome: 5
• Chromosome location: 5q33.2

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022435	hsa-miR-124-3p	Microarray	18668037
MIRT030819	hsa-miR-21-5p	Microarray	18591254

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000254	Function	C-4 methylsterol oxidase activity	IBA
GO:0001934	Process	Positive regulation of protein phosphorylation	IMP	27689744
GO:0005506	Function	Iron ion binding	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005737	Component	Cytoplasm	IDA	27689744
GO:0005737	Component	Cytoplasm	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0008610	Process	Lipid biosynthetic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016126	Process	Sterol biosynthetic process	IBA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0045654	Process	Positive regulation of megakaryocyte differentiation	IMP	27689744

Other IDs

• MIM: 619853
• HGNC: 1334
• e!Ensembl: ENSG00000170271

Protein

• UniProt ID: Q96IV6
• Protein name: Fatty acid hydroxylase domain-containing protein 2
• Protein function: Promotes megakaryocyte differentiation by enhancing ERK phosphorylation and up-regulating RUNX1 expression.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04116	FA_hydroxylase	175 → 299	Fatty acid hydroxylase superfamily	Family

• Tissue specificity: TISSUE SPECIFICITY: Down-regulated in primary acute myeloid leukemia (AML) patients. {ECO:0000269|PubMed:27689744}.
• Sequence:

  MKGEAGHMLHNEKSKQEGHIWGSMRRTAFILGSGLLSFVAFWNSVTWHLQRFWGASGYFW
  QAQWERLLTTFEGKEWILFFIGAIQVPCLFFWSFNGLLLVVDTTGKPNFISRYRIQVGKN
  EPVDPVKLRQSIRTVLFNQCMISFPMVVFLYPFLKWWRDPCRRELPTFHWFLLELAIFTL
  IEEVLFYYSHRLLHHPTFYKKIHKKHHEWTAPIGVISLYAHPIEHAVSNMLPVIVGPLVM
  GSHLSSITMWFSLALIITTISHCGYHLPFLPSPEFHDYHHLKFNQCYGVLGVLDHLHGTD
  TMFKQTKAYERHVLLLGFTPLSESIPDSPKRME

• Sequence length: 333

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ARTHRITIS, JUVENILE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE CHRONIC POLYARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MONOARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAUCIARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Juvenile arthritis	Arthritis	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Juvenile psoriatic arthritis	Juvenile arthritis	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Juvenile-Onset Still Disease	Still Disease	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Negative	Seronegative polyarthritis	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Positive	Polyarthritis, Rheumatoid Factor Positive	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only