ERFE erythroferrone [Homo sapiens (human)] - Gene

Summary

Official Symbol: ERFEprovided by HGNC
Official Full Name: erythroferroneprovided by HGNC
Primary source: HGNC:HGNC:26727
See related: Ensembl:ENSG00000178752 MIM:615099; AllianceGenome:HGNC:26727
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CTRP15; FAM132B; C1QTNF15
Summary: Predicted to enable hormone activity. Predicted to be involved in several processes, including negative regulation of gluconeogenesis; negative regulation of osteoblast differentiation; and positive regulation of signal transduction. Predicted to act upstream of or within positive regulation of fatty acid transport and regulation of fatty acid metabolic process. Predicted to be located in extracellular region. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in thyroid (RPKM 10.6), testis (RPKM 4.5) and 4 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q37.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (238158970..238168890)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (238648711..238658631)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (239067611..239077531)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Characterization of erythroferrone oligomerization and its impact on BMP antagonism.
Title: Characterization of erythroferrone oligomerization and its impact on BMP antagonism.
Characterization of erythroferrone structural domains relevant to its iron-regulatory function.
Title: Characterization of erythroferrone structural domains relevant to its iron-regulatory function.
Placental Erythroferrone and Erythropoietin mRNA Expression is not Associated with Maternal or Neonatal Iron Status in Adolescents Carrying Singletons and Adult Women Carrying Multiples.
Title: Placental Erythroferrone and Erythropoietin mRNA Expression is not Associated with Maternal or Neonatal Iron Status in Adolescents Carrying Singletons and Adult Women Carrying Multiples.
In Silico Pan-Cancer Analysis Reveals Prognostic Role of the Erythroferrone (ERFE) Gene in Human Malignancies.
Title: In Silico Pan-Cancer Analysis Reveals Prognostic Role of the Erythroferrone (ERFE) Gene in Human Malignancies.
Plasma Complement C1q/tumor necrosis factor-related protein 15 concentration is associated with polycystic ovary syndrome.
Title: Plasma Complement C1q/tumor necrosis factor-related protein 15 concentration is associated with polycystic ovary syndrome.
Serum erythroferrone levels during the first month of life in premature infants.
Title: Serum erythroferrone levels during the first month of life in premature infants.
Higher serum level of CTRP15 in patients with coronary artery disease is associated with disease severity, body mass index and insulin resistance.
Title: Higher serum level of CTRP15 in patients with coronary artery disease is associated with disease severity, body mass index and insulin resistance.
Umbilical Cord Erythroferrone Is Inversely Associated with Hepcidin, but Does Not Capture the Most Variability in Iron Status of Neonates Born to Teens Carrying Singletons and Women Carrying Multiples.
Title: Umbilical Cord Erythroferrone Is Inversely Associated with Hepcidin, but Does Not Capture the Most Variability in Iron Status of Neonates Born to Teens Carrying Singletons and Women Carrying Multiples.
The impacts of C1q/TNF-related protein-15 and adiponectin on Interleukin-6 and tumor necrosis factor-alpha in primary macrophages of patients with coronary artery diseases.
Title: The impacts of C1q/TNF-related protein-15 and adiponectin on Interleukin-6 and tumor necrosis factor-α in primary macrophages of patients with coronary artery diseases.
Differentiating iron-loading anemias using a newly developed and analytically validated ELISA for human serum erythroferrone.
Title: Differentiating iron-loading anemias using a newly developed and analytically validated ELISA for human serum erythroferrone.

Submit: New GeneRIF Correction See all GeneRIFs (27)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables hormone activity	IBA Inferred from Biological aspect of Ancestor more info
enables hormone activity	ISS Inferred from Sequence or Structural Similarity more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in establishment of localization in cell	IEA Inferred from Electronic Annotation more info
involved_in fatty acid transport	IEA Inferred from Electronic Annotation more info
involved_in intracellular iron ion homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of autophagy	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of gluconeogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of osteoblast differentiation	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of negative regulation of osteoclast differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of D-glucose import	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of fatty acid transport	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of insulin receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of fatty acid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular region	ISS Inferred from Sequence or Structural Similarity more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: erythroferrone

Names: complement C1q tumor necrosis factor-related protein 15; family with sequence similarity 132, member B; myonectin; protein FAM132B

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001291832.2 → NP_001278761.1 erythroferrone precursor

See identical proteins and their annotated locations for NP_001278761.1

Status: VALIDATED

Source sequence(s)

AC016757, AI362696, BC047423, H05276, KF984314

Consensus CDS

CCDS77548.1

UniProtKB/Swiss-Prot

Q4G0M1, W8S2M9

Related

ENSP00000442304.1, ENST00000546354.6

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

238158970..238168890

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

238648711..238658631

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_152521.1: Suppressed sequence

Description

NM_152521.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.