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Aliases for FAXDC2 Gene

Aliases for FAXDC2 Gene

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

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.

Additional gene information for FAXDC2 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAXDC2 Gene

Genomics for FAXDC2 Gene

GeneHancer (GH) Regulatory Elements for FAXDC2 Gene

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
GH05I154856 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 550.8 -0.4 -437 6.2 MLX FEZF1 DMAP1 YY1 E2F8 ZNF143 SP3 SSRP1 ZNF610 GLIS1 CNOT8 FAXDC2 SAP30L-AS1 GEMIN5
GH05I154849 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 555.3 +8.5 8544 2.4 ARID4B ZNF2 YY1 ATF7 RXRA NFYC REST MIER2 PPARG ZNF592 FAXDC2 CNOT8 MIR378H
GH05I154782 Enhancer 1.1 Ensembl ENCODE dbSUPER 11.3 +75.5 75451 2.8 PKNOX1 USF1 ZNF223 EBF1 ZIC2 POLR2A SCRT2 PRDM10 HLF USF2 GC05M154784 CNOT8 LARP1 FAXDC2 MIR1303 GC05P154730
GH05I154769 Enhancer 1 Ensembl ENCODE dbSUPER 10.8 +88.6 88566 2.9 MEIS2 SREBF1 OSR2 POLR2A IKZF1 PRDM10 ZBTB33 ZNF600 RCOR1 CHD2 CNOT8 LARP1 FAXDC2 GC05M154784 GC05P154730
GH05I154700 Enhancer 0.9 ENCODE 11.2 +157.7 157697 1.2 PKNOX1 FOXA2 NFIB ARID4B SIN3A ZNF48 RFX5 ETS1 YY1 RCOR1 CNOT8 FAXDC2 LARP1 GC05M154703 GC05P154691
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FAXDC2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for FAXDC2 Gene

Genomic Locations for FAXDC2 Gene
chr5:154,817,034-154,859,252
(GRCh38/hg38)
Size:
42,219 bases
Orientation:
Minus strand
chr5:154,198,051-154,238,812
(GRCh37/hg19)

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

No Post-translational modifications

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:
ProtoNet:

Suggested Antigen Peptide Sequences for FAXDC2 Gene

GenScript: Design optimal peptide antigens:

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

Gene Ontology (GO) - Molecular Function for FAXDC2 Gene

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

Animal Model Products

CRISPR Products

miRNA for FAXDC2 Gene

miRTarBase miRNAs that target FAXDC2

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Phenotypes , 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

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
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for FAXDC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane IBA --
GO:0016020 membrane IEA --
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

SuperPathways for FAXDC2 Gene

No Data Available

Interacting Proteins for FAXDC2 Gene

Gene Ontology (GO) - Biological Process for FAXDC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IBA --
GO:0008610 lipid biosynthetic process IEA --
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

(4) 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 Pharma Full agonist, Agonist 0

(6) 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
  • 4a-Carboxy-4b-methyl-5a-cholesta-8,24-dien-3b-ol
  • 4alpha-carboxy-4beta-methyl-5alpha-cholesta-8,24-dien-3beta-ol
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
NADP
  • Adenine-nicotinamide dinucleotide phosphate
  • b-NADP
  • b-Nicotinamide adenine dinucleotide phosphate
  • b-TPN
  • beta-NADP
53-59-8
genes like me logo Genes that share compounds with FAXDC2: view

Transcripts for FAXDC2 Gene

Unigene Clusters for FAXDC2 Gene

Fatty acid hydroxylase domain containing 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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
ECgene alternative splicing isoforms for
FAXDC2

Expression for FAXDC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for FAXDC2 Gene



NURSA nuclear receptor signaling pathways regulating expression of FAXDC2 Gene:

FAXDC2

SOURCE GeneReport for Unigene cluster for FAXDC2 Gene:

Hs.519694

Evidence on tissue expression from TISSUES for FAXDC2 Gene

  • Nervous system(4.9)
  • Skin(4.2)
  • Liver(2)
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 , mRNA Expression by UniProt/SwissProt 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 33 34
  • 99.7 (n)
dog
(Canis familiaris)
Mammalia FAXDC2 33 34
  • 90.89 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FAXDC2 34
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Faxdc2 33
  • 81.22 (n)
oppossum
(Monodelphis domestica)
Mammalia FAXDC2 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves C13H5ORF4 33
  • 67.37 (n)
FAXDC2 34
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAXDC2 34
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496051 33
  • 68.68 (n)
zebrafish
(Danio rerio)
Actinopterygii faxdc2 33 34
  • 67.6 (n)
Dr.8390 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000091 33
  • 56.3 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG1998 33 34
  • 55.69 (n)
worm
(Caenorhabditis elegans)
Secernentea F49E12.9 33 34
  • 46.94 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG25 34
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11249 34
  • 47 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7976 33
Species where no ortholog for FAXDC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)

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 from dbSNP and Humsavar for FAXDC2 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000156060 -- 154,833,934(-) C/T intron_variant
rs1000207924 -- 154,842,447(-) A/C genic_upstream_transcript_variant, intron_variant
rs1000207946 -- 154,833,627(-) T/G intron_variant
rs1000235983 -- 154,845,140(-) C/A genic_upstream_transcript_variant, intron_variant
rs1000288502 -- 154,844,829(-) G/C genic_upstream_transcript_variant, intron_variant

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

Additional Disease Information for FAXDC2

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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  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 58
  3. 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 58
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 58
  5. The DNA sequence and comparative analysis of human chromosome 5. (PMID: 15372022) Schmutz J … Rubin EM (Nature 2004) 4 58

Products for FAXDC2 Gene

Sources for FAXDC2 Gene

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