Aliases for FAXDC2 Gene

Aliases for FAXDC2 Gene

  • Fatty Acid Hydroxylase Domain Containing 2 2 3 5
  • Fatty Acid Hydroxylase Domain-Containing Protein 2 3 4
  • C5orf4 3 4
  • Chromosome 5 Open Reading Frame 4 2
  • FLJ13758 2
  • FAXDC2 5

External Ids for FAXDC2 Gene

Previous HGNC Symbols for FAXDC2 Gene

  • C5orf4

Previous GeneCards Identifiers for FAXDC2 Gene

  • GC05M154198

Summaries for FAXDC2 Gene

GeneCards Summary for FAXDC2 Gene

FAXDC2 (Fatty Acid Hydroxylase Domain Containing 2) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and iron ion binding. An important paralog of this gene is MSMO1.

UniProtKB/Swiss-Prot Summary for FAXDC2 Gene

  • Promotes megakaryocyte differentiation by enhancing ERK phosphorylation and up-regulating RUNX1 expression.

Additional gene information for FAXDC2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FAXDC2 Gene

Genomics for FAXDC2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FAXDC2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J154856 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 -0.3 -334 6.3 HNRNPL CREB1 GATAD2A TEAD4 PRDM10 ZNF629 TFE3 RFX1 LEF1 IKZF1 CNOT8 FAXDC2 SAP30L-AS1 lnc-CNOT8-2 HE856236 RF00017-5030 GEMIN5
GH05J154849 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 605.3 +8.8 8768 2.9 GATAD2A PRDM10 TFE3 RFX1 ZNF692 JUND RXRB PATZ1 REST IRF2 FAXDC2 lnc-GEMIN5-1 CNOT8 piR-32286-002 LARP1
GH05J154700 Enhancer 1 Ensembl ENCODE 11.2 +157.6 157573 1.4 CREB1 TFE3 ZNF692 ZHX2 JUND FOXA1 PKNOX1 SP1 FOXJ2 FOXK2 CNOT8 FAXDC2 LARP1 lnc-FAXDC2-3 NONHSAG042010.2 RF00017-5028
GH05J154766 Enhancer 0.6 dbSUPER 16.2 +92.6 92593 3.8 IKZF1 POLR2A PKNOX1 ZNF24 NR2C1 ZNF600 ZNF341 NR2F2 MYNN NR2F1 CNOT8 FAXDC2 GEMIN5 MIR1303 LARP1 HAND1 RF00017-5028 piR-33330
GH05J154800 Enhancer 0.8 ENCODE dbSUPER 11.4 +58.5 58456 0.2 GATAD2A RXRB TEAD1 RBM22 SAP130 POLR2A SMAD4 BCL6 NFIL3 RARA CNOT8 FAXDC2 MIR1303 piR-33330 RF00017-5028 LARP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAXDC2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FAXDC2

Genomic Locations for FAXDC2 Gene

Genomic Locations for FAXDC2 Gene
chr5:154,817,018-154,859,252
(GRCh38/hg38)
Size:
42,235 bases
Orientation:
Minus strand
chr5:154,198,051-154,238,812
(GRCh37/hg19)
Size:
40,762 bases
Orientation:
Minus strand

Genomic View for FAXDC2 Gene

Genes around FAXDC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAXDC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAXDC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAXDC2 Gene

Proteins for FAXDC2 Gene

  • Protein details for FAXDC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96IV6-FXDC2_HUMAN
    Recommended name:
    Fatty acid hydroxylase domain-containing protein 2
    Protein Accession:
    Q96IV6
    Secondary Accessions:
    • B4DIE1
    • Q9BSX6
    • Q9H8C7

    Protein attributes for FAXDC2 Gene

    Size:
    333 amino acids
    Molecular mass:
    39002 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for FAXDC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAXDC2 Gene

Post-translational modifications for FAXDC2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FAXDC2 Gene

Domains & Families for FAXDC2 Gene

Gene Families for FAXDC2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for FAXDC2 Gene

InterPro:
Blocks:
  • Sterol desaturase
ProtoNet:

Suggested Antigen Peptide Sequences for FAXDC2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57989 (B4DIE1_HUMAN)
  • Putative tumor suppressor (Q9UHK3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96IV6

UniProtKB/Swiss-Prot:

FXDC2_HUMAN :
  • Belongs to the sterol desaturase family.
Family:
  • Belongs to the sterol desaturase family.
genes like me logo Genes that share domains with FAXDC2: view

Function for FAXDC2 Gene

Molecular function for FAXDC2 Gene

UniProtKB/Swiss-Prot Function:
Promotes megakaryocyte differentiation by enhancing ERK phosphorylation and up-regulating RUNX1 expression.
UniProtKB/Swiss-Prot Induction:
Up-regulated during 12-O-tetradecanoyl phorbol-acetate (TPA)-induced megakaryocytic differentiation of K562 cells.

Phenotypes From GWAS Catalog for FAXDC2 Gene

Gene Ontology (GO) - Molecular Function for FAXDC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000254 C-4 methylsterol oxidase activity IBA 21873635
GO:0005506 iron ion binding IEA --
GO:0016491 oxidoreductase activity IBA 21873635
genes like me logo Genes that share ontologies with FAXDC2: view

Phenotypes for FAXDC2 Gene

GenomeRNAi human phenotypes for FAXDC2:
genes like me logo Genes that share phenotypes with FAXDC2: view

Animal Model Products

CRISPR Products

miRNA for FAXDC2 Gene

miRTarBase miRNAs that target FAXDC2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAXDC2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAXDC2 Gene

Localization for FAXDC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAXDC2 Gene

Cytoplasm. Membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FAXDC2 gene
Compartment Confidence
endoplasmic reticulum 3
cytosol 2
mitochondrion 1
golgi apparatus 1
plasma membrane 0
extracellular 0
peroxisome 0
nucleus 0

Gene Ontology (GO) - Cellular Components for FAXDC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 27689744
GO:0005789 endoplasmic reticulum membrane IBA 21873635
GO:0016020 membrane IEA,IBA 21873635
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with FAXDC2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FAXDC2 Gene

Pathways & Interactions for FAXDC2 Gene

PathCards logo

SuperPathways for FAXDC2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for FAXDC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001934 positive regulation of protein phosphorylation IMP 27689744
GO:0008610 lipid biosynthetic process IEA --
GO:0016126 sterol biosynthetic process IBA 21873635
GO:0045654 positive regulation of megakaryocyte differentiation IMP 27689744
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with FAXDC2: view

No data available for Pathways by source and SIGNOR curated interactions for FAXDC2 Gene

Drugs & Compounds for FAXDC2 Gene

(6) Drugs for FAXDC2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Oxygen Approved, Vet_approved Pharma 0
Water Approved Pharma 0
NADH Approved Nutra 0
NAD Experimental Pharma Agonist, Full agonist, Activator 0
NADP Experimental Pharma 0

(4) Additional Compounds for FAXDC2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-beta-Hydroxy-4-beta-methyl-5-alpha-cholest-7-ene-4-alpha-carboxylate
  • 3-beta-Hydroxy-4-beta-methyl-5-alpha-cholest-7-ene-4-alpha-carboxylic acid
  • 3b-Hydroxy-4b-methyl-5a-cholest-7-ene-4a-carboxylic acid
  • 3beta-Hydroxy-4beta-methyl-5alpha-cholest-7-ene-4alpha-carboxylate
  • b-Hydroxy-4b-methyl-5a-cholest-7-ene-4a-carboxylate
  • beta-Hydroxy-4b-methyl-5a-cholest-7-ene-4a-carboxylate
4,4-Dimethyl-5a-cholesta-8,24-dien-3-b-ol
  • (3beta,5alpha)-4,4-Dimethylcholesta-8,24-dien-3-ol
  • 14-Demethyllanosterol
  • 4,4-Dimethyl-5 alpha -cholesta-8,24-dien-3 beta -ol
  • 4,4-Dimethyl-5-alpha-cholesta-(8,24)-dien-3-beta-ol
  • 4,4-Dimethyl-5-alpha-cholesta-8,24-dien-3-beta-ol
7448-02-4
4a-Carboxy-4b-methyl-5a-cholesta-8,24-dien-3b-ol
  • 4alpha-Carboxy-4beta-methyl-5alpha-cholesta-8,24-dien-3beta-ol
  • 4α-carboxy-4β-methyl-5α-cholesta-8,24-dien-3β-ol
Hydrogen Ion
  • H+
  • H(+)
  • Hydrogen cation
  • Hydron
  • Proton
genes like me logo Genes that share compounds with FAXDC2: view

Transcripts for FAXDC2 Gene

mRNA/cDNA for FAXDC2 Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAXDC2

Alternative Splicing Database (ASD) splice patterns (SP) for FAXDC2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d · 5e · 5f ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d ^ 9a · 9b · 9c · 9d · 9e · 9f ^ 10a · 10b · 10c ^
SP1: - - - - - - - -
SP2: - - - - - - -
SP3: - - - - - - - -
SP4: - - - - - - - - - - - -
SP5: - - -
SP6: - - - - -
SP7: - -
SP8: - - - - - - - - - - - - -
SP9: -
SP10: - - -
SP11: - - - - -
SP12: - - - - -
SP13: -
SP14:

ExUns: 11 ^ 12a · 12b · 12c ^ 13
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14: -

Relevant External Links for FAXDC2 Gene

GeneLoc Exon Structure for
FAXDC2

Expression for FAXDC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FAXDC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FAXDC2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FAXDC2

SOURCE GeneReport for Unigene cluster for FAXDC2 Gene:

Hs.519694

mRNA Expression by UniProt/SwissProt for FAXDC2 Gene:

Q96IV6-FXDC2_HUMAN
Tissue specificity: Down-regulated in primary acute myeloid leukemia (AML) patients.

Evidence on tissue expression from TISSUES for FAXDC2 Gene

  • Nervous system(4.9)
  • Skin(4.3)
  • Liver(2.5)
genes like me logo Genes that share expression patterns with FAXDC2: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAXDC2 Gene

Orthologs for FAXDC2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for FAXDC2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FAXDC2 30 31
  • 99.7 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FAXDC2 30 31
  • 90.89 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia FAXDC2 31
  • 83 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Faxdc2 30
  • 81.22 (n)
Oppossum
(Monodelphis domestica)
Mammalia FAXDC2 31
  • 80 (a)
OneToOne
Chicken
(Gallus gallus)
Aves C13H5ORF4 30
  • 67.37 (n)
FAXDC2 31
  • 64 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FAXDC2 31
  • 44 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100496051 30
  • 68.68 (n)
Zebrafish
(Danio rerio)
Actinopterygii faxdc2 30 31
  • 67.6 (n)
OneToOne
Dr.8390 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000091 30
  • 56.3 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG1998 30 31
  • 55.69 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea F49E12.9 30 31
  • 46.94 (n)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG25 31
  • 20 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.11249 31
  • 47 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.7976 30
Species where no ortholog for FAXDC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Mouse (Mus musculus)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for FAXDC2 Gene

ENSEMBL:
Gene Tree for FAXDC2 (if available)
TreeFam:
Gene Tree for FAXDC2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FAXDC2: view image

Paralogs for FAXDC2 Gene

Paralogs for FAXDC2 Gene

genes like me logo Genes that share paralogs with FAXDC2: view

Variants for FAXDC2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FAXDC2 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
rs17641488 - p.Arg133His

Additional dbSNP identifiers (rs#s) for FAXDC2 Gene

Structural Variations from Database of Genomic Variants (DGV) for FAXDC2 Gene

Variant ID Type Subtype PubMed ID
nsv830521 CNV gain 17160897

Variation tolerance for FAXDC2 Gene

Residual Variation Intolerance Score: 91.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.08; 60.91% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAXDC2 Gene

Human Gene Mutation Database (HGMD)
FAXDC2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAXDC2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAXDC2 Gene

Disorders for FAXDC2 Gene

No disorders were found for FAXDC2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FAXDC2 Gene

Publications for FAXDC2 Gene

  1. Novel function of FAXDC2 in megakaryopoiesis. (PMID: 27689744) Jin Q … Huang Z (Blood cancer journal 2016) 3 4
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. Transcription mapping of the 5q- syndrome critical region: cloning of two novel genes and sequencing, expression, and mapping of a further six novel cDNAs. (PMID: 10843801) Boultwood J … Wainscoat JS (Genomics 2000) 2 3
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for FAXDC2 Gene

Sources for FAXDC2 Gene