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Aliases for ERFE Gene

Aliases for ERFE Gene

  • Erythroferrone 2 3 4 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 C1QTNF12.

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.

Additional gene information for ERFE Gene

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

Genomics for ERFE Gene

GeneHancer (GH) Regulatory Elements for ERFE Gene

Promoters and enhancers for ERFE 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
GH02J238158 Promoter/Enhancer 1.7 EPDnew Ensembl dbSUPER 606.1 +0.3 331 1.4 ZNF148 ZBTB8A PRDM10 CTCF ZNF740 ZFX GATAD2B ZSCAN29 POLR2A REST ERFE ILKAP
GH02J238164 Promoter/Enhancer 1.4 EPDnew Ensembl dbSUPER 600.4 +5.0 5031 0.4 EZH2 RNF2 ERFE ILKAP
GH02J238160 Promoter/Enhancer 1.1 Ensembl dbSUPER 600.7 +1.3 1331 0.2 CC2D1A RAD21 NR2F1 GABPB1 ZNF654 HIC1 ARID4B CTCF BCL11B ETV4 ERFE ILKAP
GH02J238202 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 35 +44.1 44136 3 CC2D1A ELF3 ZFX ZNF148 NKRF POLR2A MLLT1 ZNF687 TFE3 NCOA6 ILKAP ERFE ENSG00000225057 LINC02610 SCLY
GH02J238166 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 36.3 +11.2 11165 6.5 ZSCAN21 SP7 SP1 MZF1 POLR2A PKNOX1 IKZF1 ZBTB8A ZNF600 PRDM10 ERFE ILKAP UBE2F
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ERFE on UCSC Golden Path with GeneCards custom track

Genomic Locations for ERFE Gene

Genomic Locations for ERFE Gene
chr2:238,158,970-238,168,900
(GRCh38/hg38)
Size:
9,931 bases
Orientation:
Plus strand
chr2:239,067,623-239,077,541
(GRCh37/hg19)
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 C1QTNF12 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

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

Protein Domains for ERFE Gene

Suggested Antigen Peptide Sequences for ERFE Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM132B (F132B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q4G0M1

UniProtKB/Swiss-Prot:

ERFE_HUMAN :
  • Belongs to the adipolin/erythroferrone family.
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.

Phenotypes From GWAS Catalog for ERFE Gene

Gene Ontology (GO) - Molecular Function for ERFE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005179 hormone activity ISS --
GO:0005515 protein binding IEA --
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

CRISPR Products

miRNA for ERFE Gene

miRTarBase miRNAs that target ERFE

Clone Products

  • Applied Biological Materials (abm): Clones for ERFE - Now 50% OFF >
  • * ERFE as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * ERFE tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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 4
mitochondrion 1
cytosol 1
endoplasmic reticulum 0
lysosome 0
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
  • Microtubule organizing center (2)
See all subcellular structures

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 IBA,IEA 21873635
GO:0005623 cell IEA --
genes like me logo Genes that share ontologies with ERFE: view

Pathways & Interactions for ERFE Gene

PathCards logo

SuperPathways for ERFE Gene

No Data Available

Interacting Proteins for ERFE Gene

STRING Interaction Network Preview (showing top 2 STRING interactants - click image to see details)
https://version11.string-db.org/api/image/network?species=9606&limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000442304%0d9606.ENSP00000315635%0d9606.ENSP00000243077%0d
Selected Interacting proteins: Q4G0M1-ERFE_HUMAN ENSP00000442304 for ERFE Gene via IID STRING

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:0007165 signal transduction IEA --
GO:0010469 regulation of signaling receptor activity IEA --
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

Drugs & Compounds for ERFE Gene

No Compound Related Data Available

Transcripts for ERFE Gene

mRNA/cDNA for ERFE Gene

(2) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(7) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for ERFE - Now 50% OFF >
  • * ERFE as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * ERFE tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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

Evidence on tissue expression from TISSUES for ERFE Gene

  • Liver(4.3)
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 , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 35 34
  • 98.58 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fam132b 34
  • 82.07 (n)
mouse
(Mus musculus)
Mammalia Fam132b 35 34
  • 76.19 (n)
OneToOne
Erfe 17
cow
(Bos Taurus)
Mammalia FAM132B 35 34
  • 75.82 (n)
OneToOne
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)
Aminode:
Evolutionary constrained regions (ECRs) for ERFE: view image

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 Variation AA Info Type
rs1000219574 -- 238,159,858(+) A/AA intron_variant
rs1000943062 -- 238,160,066(+) T/A/C intron_variant
rs1001015721 -- 238,165,050(+) C/T intron_variant
rs1001164802 -- 238,164,453(+) C/T intron_variant
rs1001201740 -- 238,158,582(+) G/C upstream_transcript_variant

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)

Additional Variant Information for ERFE Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for ERFE Gene

Additional Disease Information for 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 journal of biological chemistry 2015) 2 3 58
  2. Myonectin (CTRP15), a novel myokine that links skeletal muscle to systemic lipid homeostasis. (PMID: 22351773) Seldin MM … Wong GW (The Journal of biological chemistry 2012) 2 3 58
  3. [The role of erythroferrone in iron metabolism: From experimental results to pathogenesis]. (PMID: 28666715) Vallet N … Club du Globule Rouge et du Fer (La Revue de medecine interne 2018) 3 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. 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 58

Products for ERFE Gene

Sources for ERFE Gene

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