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Aliases for ERFE Gene

Aliases for ERFE Gene

  • Erythroferrone 2 3 3 5
  • Myonectin 2 3 4
  • Complement C1q Tumor Necrosis Factor-Related Protein 15 3 4
  • Family With Sequence Similarity 132, Member B 2 3
  • C1QTNF15 3 4
  • FAM132B 3 4
  • CTRP15 3 4
  • Protein FAM132B 3

External Ids for ERFE Gene

Previous HGNC Symbols for ERFE Gene

  • FAM132B

Summaries for ERFE Gene

GeneCards Summary for ERFE Gene

ERFE (Erythroferrone) is a Protein Coding gene. An important paralog of this gene is FAM132A.

UniProtKB/Swiss-Prot for ERFE Gene

  • Iron-regulatory hormone that acts as an erythroid regulator after hemorrhage: produced by erythroblasts following blood loss and mediates suppression of hepcidin (HAMP) expression in the liver, thereby promoting increased iron absorption and mobilization from stores. Promotes lipid uptake into adipocytes and hepatocytes via transcriptional up-regulation of genes involved in fatty acid uptake.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ERFE Gene

Genomics for ERFE Gene

Regulatory Elements for ERFE Gene

Enhancers for ERFE 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
GH02F238166 1.5 FANTOM5 Ensembl ENCODE 36.2 +11.2 11154 6.5 PKNOX1 NFRKB INSM2 FEZF1 ZNF366 SCRT2 FOS EGR2 CEBPB ZEB2 ERFE ILKAP UBE2F
GH02F238202 1 ENCODE 21.2 +44.4 44393 2.5 ZFP64 SIN3A DMAP1 ZNF48 GATA2 ZNF143 SP5 MXD4 ZNF592 KAT8 ERFE ENSG00000225057 LOC151174 SCLY ILKAP
GH02F238220 1.3 FANTOM5 Ensembl ENCODE 11.2 +62.1 62057 1.1 ELF3 DRAP1 TBP ZFP64 CEBPG ZNF48 POLR2A THAP11 HLF CEBPB ENSG00000225057 LOC151174 ERFE TRAF3IP1 RAMP1 PIR35803 PIR46867
GH02F238283 1.4 FANTOM5 ENCODE 10.3 +128.7 128676 8.0 HDGF PKNOX1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 LOC151174 TRAF3IP1 ENSG00000225057 RBM44 ERFE SCLY ENSG00000283635 PIR48935
GH02F238239 1.3 Ensembl ENCODE 11 +82.8 82808 5.0 PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF143 ZNF548 FOS ZNF263 ENSG00000225057 LOC151174 ILKAP TRAF3IP1 ERFE PER2 LOC105373961 ESPNL HES6 GC02M238273
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ERFE on UCSC Golden Path with GeneCards custom track

Promoters for ERFE Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001834256 218 1201 CTCF SAP130 UBTF RAD21 E2F1 CCNT2 ZSCAN29 E2F6 EZH2 ZBTB10

Genomic Location for ERFE Gene

Chromosome:
2
Start:
238,158,982 bp from pter
End:
238,168,900 bp from pter
Size:
9,919 bases
Orientation:
Plus strand

Genomic View for ERFE Gene

Genes around ERFE on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ERFE Gene

Proteins for ERFE Gene

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

    Protein Symbol:
    Q4G0M1-ERFE_HUMAN
    Recommended name:
    Erythroferrone
    Protein Accession:
    Q4G0M1
    Secondary Accessions:
    • W8S2M9

    Protein attributes for ERFE Gene

    Size:
    354 amino acids
    Molecular mass:
    37279 Da
    Quaternary structure:
    • Homodimer; disulfide-linked. May form heteromeric complexes with C1QTNF2 and FAM132A and, to a lesser extent, with C1QTNF5 and C1QTNF10.

neXtProt entry for ERFE Gene

Post-translational modifications for ERFE Gene

Other Protein References for ERFE Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ERFE Gene

Domains & Families for ERFE Gene

Gene Families for ERFE Gene

Protein Domains for ERFE Gene

Suggested Antigen Peptide Sequences for ERFE Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q4G0M1

UniProtKB/Swiss-Prot:

ERFE_HUMAN :
  • Contains 1 C1q domain.
  • Belongs to the adipolin/erythroferrone family.
Domain:
  • Contains 1 C1q domain.
Family:
  • Belongs to the adipolin/erythroferrone family.
genes like me logo Genes that share domains with ERFE: view

Function for ERFE Gene

Molecular function for ERFE Gene

UniProtKB/Swiss-Prot Function:
Iron-regulatory hormone that acts as an erythroid regulator after hemorrhage: produced by erythroblasts following blood loss and mediates suppression of hepcidin (HAMP) expression in the liver, thereby promoting increased iron absorption and mobilization from stores. Promotes lipid uptake into adipocytes and hepatocytes via transcriptional up-regulation of genes involved in fatty acid uptake.

Gene Ontology (GO) - Molecular Function for ERFE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005179 hormone activity ISS --
GO:0042803 protein homodimerization activity IEA --
genes like me logo Genes that share ontologies with ERFE: view
genes like me logo Genes that share phenotypes with ERFE: view

Animal Models for ERFE Gene

MGI Knock Outs for ERFE:

Animal Model Products

  • Taconic Biosciences Mouse Models for ERFE

miRNA for ERFE Gene

miRTarBase miRNAs that target ERFE

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

Localization for ERFE Gene

Subcellular locations from UniProtKB/Swiss-Prot for ERFE Gene

Secreted.

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 ERFE gene
Compartment Confidence
extracellular 5
mitochondrion 2
endoplasmic reticulum 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ERFE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region ISS --
GO:0005615 extracellular space IEA --
GO:0005623 cell IEA --
genes like me logo Genes that share ontologies with ERFE: view

Pathways & Interactions for ERFE Gene

No Data Available

Interacting Proteins for ERFE Gene

Selected Interacting proteins: Q4G0M1-ERFE_HUMAN for ERFE Gene via IID

Symbol External ID(s) Details
CLK1
TMEM25

Gene Ontology (GO) - Biological Process for ERFE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006879 cellular iron ion homeostasis IEA,ISS --
GO:0019217 regulation of fatty acid metabolic process IEA --
GO:2000193 positive regulation of fatty acid transport IEA --
genes like me logo Genes that share ontologies with ERFE: view

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

Transcripts for ERFE Gene

mRNA/cDNA for ERFE Gene

(2) REFSEQ mRNAs :
(7) Ensembl transcripts including schematic representations, and UCSC links where relevant :

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

No ASD Table

Relevant External Links for ERFE Gene

GeneLoc Exon Structure for
ERFE
ECgene alternative splicing isoforms for
ERFE

Expression for ERFE Gene

NURSA nuclear receptor signaling pathways regulating expression of ERFE Gene:

ERFE

SOURCE GeneReport for Unigene cluster for ERFE Gene:

Hs.24951
No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for ERFE Gene

Orthologs for ERFE Gene

This gene was present in the common ancestor of chordates.

Orthologs for ERFE Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM132B 34 35
  • 98.58 (n)
rat
(Rattus norvegicus)
Mammalia Fam132b 34
  • 82.07 (n)
mouse
(Mus musculus)
Mammalia Fam132b 34 16 35
  • 76.19 (n)
cow
(Bos Taurus)
Mammalia FAM132B 34 35
  • 75.82 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FAM132B 35
  • 61 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FAM132B 35
  • 58 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FAM132B 35
  • 51 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM132B 35
  • 39 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii FAM132B 35
  • 35 (a)
OneToOne
Species where no ortholog for ERFE was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ERFE Gene

ENSEMBL:
Gene Tree for ERFE (if available)
TreeFam:
Gene Tree for ERFE (if available)

Paralogs for ERFE Gene

Paralogs for ERFE Gene

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

Variants for ERFE Gene

Sequence variations from dbSNP and Humsavar for ERFE Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs10169341 -- 238,162,020(+) GGGGC(C/T)TGCAG intron-variant
rs10185688 -- 238,159,318(+) CTGCA(A/T)CGCCT intron-variant
rs10713163 -- 238,168,823(+) TTTCA(-/T)TTTTC utr-variant-3-prime
rs111241405 -- 238,164,165(+) CTCTC(G/T)CCGCC reference, missense
rs111428054 -- 238,168,831(+) TTCTC(A/T)GTGTG utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
dgv7348n54 CNV loss 21841781
nsv1000252 CNV loss 25217958
nsv1072085 CNV deletion 25765185
nsv1112782 CNV deletion 24896259
nsv1144925 CNV deletion 24896259
nsv460147 CNV loss 19166990
nsv470525 CNV loss 18288195
nsv508894 CNV insertion 20534489
nsv517412 CNV loss 19592680
nsv584760 CNV loss 21841781
nsv819507 CNV gain 19587683
nsv953215 CNV deletion 24416366

Variation tolerance for ERFE Gene

Gene Damage Index Score: 3.89; 59.13% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ERFE Gene

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

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

Disorders for ERFE Gene

Relevant External Links for ERFE

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ERFE
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ERFE

No disorders were found for ERFE Gene.

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

Publications for ERFE Gene

  1. Is erythroferrone finally the long sought-after systemic erythroid regulator of iron? (PMID: 26322167) Lawen A. (World J Biol Chem 2015) 2 3 64
  2. Myonectin (CTRP15), a novel myokine that links skeletal muscle to systemic lipid homeostasis. (PMID: 22351773) Seldin M.M. … Wong G.W. (J. Biol. Chem. 2012) 2 3 64
  3. Associations among Erythroferrone and Biomarkers of Erythropoiesis and Iron Metabolism, and Treatment with Long-Term Erythropoiesis-Stimulating Agents in Patients on Hemodialysis. (PMID: 26978524) Honda H. … Shibata T. (PLoS ONE 2016) 3 64
  4. SR protein kinases promote splicing of nonconsensus introns. (PMID: 26167880) Lipp J.J. … Guthrie C. (Nat. Struct. Mol. Biol. 2015) 3 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for ERFE Gene

Sources for ERFE Gene

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