Aliases for GFOD2 Gene

Aliases for GFOD2 Gene

  • Glucose-Fructose Oxidoreductase Domain Containing 2 2 3 5
  • Glucose-Fructose Oxidoreductase Domain-Containing Protein 2 3 4
  • EC 1.-.-.- 4

External Ids for GFOD2 Gene

Previous GeneCards Identifiers for GFOD2 Gene

  • GC16M066266
  • GC16M067708
  • GC16M053581

Summaries for GFOD2 Gene

GeneCards Summary for GFOD2 Gene

GFOD2 (Glucose-Fructose Oxidoreductase Domain Containing 2) is a Protein Coding gene. Diseases associated with GFOD2 include Maple Syrup Urine Disease. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity. An important paralog of this gene is GFOD1.

UniProtKB/Swiss-Prot Summary for GFOD2 Gene

Additional gene information for GFOD2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GFOD2 Gene

Genomics for GFOD2 Gene

GeneHancer (GH) Regulatory Elements for GFOD2 Gene

Promoters and enhancers for GFOD2 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
GH16J067718 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 505.4 +0.3 296 3.3 RXRA ZBTB40 EP300 SIN3A NRF1 USF1 POLR2G SP1 GTF2E2 PHF8 GFOD2 lnc-C16orf86-2 ENKD1 RANBP10 TSNAXIP1 ACD PARD6A TMEM208 EDC4 DUS2
GH16J067684 Enhancer 1 Ensembl ENCODE dbSUPER 21.1 +32.1 32069 8.6 NR2F2 FOXA2 ZNF384 JUND FOXA1 CEBPG ZNF146 PAX5 RAD21 RXRA lnc-ENKD1-2 GFOD2 RANBP10 ACD PARD6A ENSG00000237718 PRMT7 CARMIL2 TSNAXIP1 HSD11B2
GH16J067769 Enhancer 1 Ensembl ENCODE 16.1 -52.9 -52931 5.8 MYC FOXA2 NR2F2 CEBPG MAX ZBTB33 NFE2 JUND TAL1 MNT RANBP10 DUS2 GFOD2 TSNAXIP1 THAP11 CENPT ACD PARD6A EDC4 CARMIL2
GH16J067760 Enhancer 0.9 FANTOM5 Ensembl ENCODE 13.6 -41.2 -41234 1.6 NR2F2 JUND RAD21 RXRA MAX HNF4A REST KLF1 GATA1 SP1 RANBP10 GFOD2 TSNAXIP1 LCAT SLC12A4 EDC4 CARMIL2 ENSG00000237718 DUS2 CTCF
GH16J067672 Enhancer 1.1 Ensembl ENCODE dbSUPER 10.5 +45.5 45521 3.1 ZNF217 CTCF GABPA RFX1 REST RAD21 TRIM22 ZBTB26 SMC3 NR2F2 piR-39149 PRMT7 GFOD2 HSD11B2 piR-43769
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GFOD2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GFOD2

Top Transcription factor binding sites by QIAGEN in the GFOD2 gene promoter:
  • AP-2gamma
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • Hand1
  • POU2F1
  • POU2F1a

Genomic Locations for GFOD2 Gene

Genomic Locations for GFOD2 Gene
chr16:67,674,531-67,719,370
(GRCh38/hg38)
Size:
44,840 bases
Orientation:
Minus strand
chr16:67,708,434-67,753,324
(GRCh37/hg19)
Size:
44,891 bases
Orientation:
Minus strand

Genomic View for GFOD2 Gene

Genes around GFOD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GFOD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GFOD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GFOD2 Gene

Proteins for GFOD2 Gene

  • Protein details for GFOD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3B7J2-GFOD2_HUMAN
    Recommended name:
    Glucose-fructose oxidoreductase domain-containing protein 2
    Protein Accession:
    Q3B7J2
    Secondary Accessions:
    • Q69YL9
    • Q6UXX6
    • Q7L648
    • Q8TE86
    • Q9BQ07
    • R4GNG5

    Protein attributes for GFOD2 Gene

    Size:
    385 amino acids
    Molecular mass:
    42255 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAQ88536.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for GFOD2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GFOD2 Gene

Post-translational modifications for GFOD2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GFOD2 Gene

Domains & Families for GFOD2 Gene

Gene Families for GFOD2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for GFOD2 Gene

Blocks:
  • Oxidoreductase, N-terminal
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GFOD2 Gene

GenScript: Design optimal peptide antigens:
  • Glucose-fructose oxidoreductase domain-containing protein 2 (GFOD2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q3B7J2

UniProtKB/Swiss-Prot:

GFOD2_HUMAN :
  • Belongs to the Gfo/Idh/MocA family.
Family:
  • Belongs to the Gfo/Idh/MocA family.
genes like me logo Genes that share domains with GFOD2: view

Function for GFOD2 Gene

Molecular function for GFOD2 Gene

UniProtKB/Swiss-Prot Function:
Promotes matrix assembly.

Enzyme Numbers (IUBMB) for GFOD2 Gene

Phenotypes From GWAS Catalog for GFOD2 Gene

Gene Ontology (GO) - Molecular Function for GFOD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with GFOD2: view
genes like me logo Genes that share phenotypes with GFOD2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for GFOD2

CRISPR Products

miRNA for GFOD2 Gene

miRTarBase miRNAs that target GFOD2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GFOD2

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GFOD2 Gene

Localization for GFOD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GFOD2 Gene

Secreted, extracellular space, extracellular matrix.

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 GFOD2 gene
Compartment Confidence
extracellular 3
nucleus 2
cytosol 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GFOD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031012 extracellular matrix IBA 21873635
genes like me logo Genes that share ontologies with GFOD2: view

Pathways & Interactions for GFOD2 Gene

PathCards logo

SuperPathways for GFOD2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for GFOD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030198 extracellular matrix organization IBA 21873635
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with GFOD2: view

No data available for Pathways by source and SIGNOR curated interactions for GFOD2 Gene

Drugs & Compounds for GFOD2 Gene

No Compound Related Data Available

Transcripts for GFOD2 Gene

mRNA/cDNA for GFOD2 Gene

2 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
7 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 GFOD2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GFOD2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b · 4c
SP1: - -
SP2: - - -
SP3: - - - -
SP4:
SP5: -

Relevant External Links for GFOD2 Gene

GeneLoc Exon Structure for
GFOD2

Expression for GFOD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GFOD2 Gene

Protein differential expression in normal tissues from HIPED for GFOD2 Gene

This gene is overexpressed in Placenta (33.8), Plasma (26.1), and Peripheral blood mononuclear cells (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GFOD2 Gene



Protein tissue co-expression partners for GFOD2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GFOD2

SOURCE GeneReport for Unigene cluster for GFOD2 Gene:

Hs.307084

Evidence on tissue expression from TISSUES for GFOD2 Gene

  • Lung(4.2)
  • Skin(4.2)
  • Nervous system(3.8)
genes like me logo Genes that share expression patterns with GFOD2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GFOD2 Gene

Orthologs for GFOD2 Gene

This gene was present in the common ancestor of animals.

Orthologs for GFOD2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GFOD2 31 30
  • 99.13 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GFOD2 31 30
  • 91 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GFOD2 31 30
  • 90.22 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gfod2 30
  • 87.53 (n)
mouse
(Mus musculus)
Mammalia Gfod2 17 31 30
  • 87.45 (n)
oppossum
(Monodelphis domestica)
Mammalia GFOD2 31
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GFOD2 31
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves GFOD2 31 30
  • 78.21 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GFOD2 31
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gfod2 30
  • 68.67 (n)
Str.15899 30
African clawed frog
(Xenopus laevis)
Amphibia MGC53910 30
zebrafish
(Danio rerio)
Actinopterygii gfod2 31 30
  • 63.43 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG17712 31
  • 45 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.291 31
  • 37 (a)
OneToMany
Species where no ortholog for GFOD2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for GFOD2 Gene

ENSEMBL:
Gene Tree for GFOD2 (if available)
TreeFam:
Gene Tree for GFOD2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GFOD2: view image

Paralogs for GFOD2 Gene

Paralogs for GFOD2 Gene

(1) SIMAP similar genes for GFOD2 Gene using alignment to 2 proteins:

  • GFOD2_HUMAN
  • R4GNG5_HUMAN

Pseudogenes.org Pseudogenes for GFOD2 Gene

genes like me logo Genes that share paralogs with GFOD2: view

Variants for GFOD2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GFOD2 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
rs11539687 - p.Gly231Val

Additional dbSNP identifiers (rs#s) for GFOD2 Gene

Structural Variations from Database of Genomic Variants (DGV) for GFOD2 Gene

Variant ID Type Subtype PubMed ID
nsv1842 CNV insertion 18451855
nsv475320 CNV novel sequence insertion 20440878
nsv479975 CNV novel sequence insertion 20440878
nsv522852 CNV gain 19592680
nsv524363 CNV loss 19592680
nsv952046 CNV deletion 24416366

Variation tolerance for GFOD2 Gene

Residual Variation Intolerance Score: 13% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.06; 21.68% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GFOD2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GFOD2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GFOD2 Gene

Disorders for GFOD2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GFOD2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
maple syrup urine disease
  • dihydrolipoamide dehydrogenase deficiency
- elite association - COSMIC cancer census association via MalaCards
Search GFOD2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GFOD2

genes like me logo Genes that share disorders with GFOD2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GFOD2 Gene

Publications for GFOD2 Gene

  1. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 2 3 4 54
  2. Genetic variants influencing circulating lipid levels and risk of coronary artery disease. (PMID: 20864672) Waterworth DM … Sandhu MS (Arteriosclerosis, thrombosis, and vascular biology 2010) 3 41 54
  3. 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 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54

Products for GFOD2 Gene

Sources for GFOD2 Gene