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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. Among its related pathways are cholesterol biosynthesis I and Metabolism. GO annotations related to this gene include oxidoreductase activity and iron ion binding. An important paralog of this gene is MSMO1.

No data available for Entrez Gene 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

Regulatory Elements for FAXDC2 Gene

Enhancers for FAXDC2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around FAXDC2 on UCSC Golden Path with GeneCards custom track

Promoters for FAXDC2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FAXDC2 on UCSC Golden Path with GeneCards custom track

Genomic Location for FAXDC2 Gene

Chromosome:
5
Start:
154,817,034 bp from pter
End:
154,859,252 bp from pter
Size:
42,219 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

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 IEA --
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

Clone Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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.

Gene Ontology (GO) - Cellular Components for FAXDC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
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 COMPARTMENTS for FAXDC2 Gene

Pathways & Interactions for FAXDC2 Gene

SuperPathways for FAXDC2 Gene

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

Pathways by source for FAXDC2 Gene

2 KEGG pathways for FAXDC2 Gene

Interacting Proteins for FAXDC2 Gene

Gene Ontology (GO) - Biological Process for FAXDC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006633 fatty acid biosynthetic process IEA --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with FAXDC2: view

No data available for 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
NAD Pharma Full agonist, Agonist 0
NADH Nutra 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

Clone Products

Flow Cytometry 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 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
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 mRNA Expression by UniProt/SwissProt 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
dog
(Canis familiaris)
Mammalia FAXDC2 34
  • 90.89 (n)
  • 89.49 (a)
FAXDC2 35
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FAXDC2 34
  • 99.7 (n)
  • 99.4 (a)
FAXDC2 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Faxdc2 34
  • 81.22 (n)
  • 77.4 (a)
oppossum
(Monodelphis domestica)
Mammalia FAXDC2 35
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAXDC2 35
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves C13H5ORF4 34
  • 67.37 (n)
  • 63.96 (a)
FAXDC2 35
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAXDC2 35
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496051 34
  • 68.68 (n)
  • 66.77 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.8390 34
faxdc2 34
  • 67.6 (n)
  • 62.31 (a)
faxdc2 35
  • 62 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000091 34
  • 56.3 (n)
  • 47.62 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG1998 34
  • 55.69 (n)
  • 46.58 (a)
CG1998 35
  • 38 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F49E12.9 34
  • 46.94 (n)
  • 38.95 (a)
F49E12.9 35
  • 39 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG25 35
  • 20 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7976 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11249 35
  • 47 (a)
OneToOne
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 Sequence Context AA Info Type
rs17641488 - 154,823,561(+) CTGTG(C/T)GGATA nc-transcript-variant, reference, missense, utr-variant-5-prime
rs173883 -- 154,825,646(-) tgaga(C/T)ggagt intron-variant
rs185323 -- 154,832,960(-) AGTTG(C/T)TATAA intron-variant
rs255529 -- 154,836,741(+) CACCT(C/T)CCAAG intron-variant, upstream-variant-2KB
rs255530 -- 154,833,959(-) caggc(G/T)tggtg 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)

Relevant External Links 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

Relevant External Links for FAXDC2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (Nat. Genet. 2004) 3 4 65
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 65
  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 J.S. (Genomics 2000) 2 3 65
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 65
  5. The DNA sequence and comparative analysis of human chromosome 5. (PMID: 15372022) Schmutz J. … Rubin E.M. (Nature 2004) 4 65

Products for FAXDC2 Gene

Sources for FAXDC2 Gene

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