ERFE

erythroferrone, the group of C1q and TNF related

Basic information

Region (hg38): 2:238158970-238168900

Previous symbols: [ "FAM132B" ]

Links

ENSG00000178752 ∙ NCBI:151176 ∙ OMIM:615099 ∙ HGNC:26727 ∙ Uniprot:Q4G0M1 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ERFE gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ERFE gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	0	0	0

Variants in ERFE

This is a list of pathogenic ClinVar variants found in the ERFE region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
2-238162738-C-T			Likely benign (Dec 01, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ERFE	protein_coding	protein_coding	ENST00000546354	8	9919

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00252	0.797	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.666	86	105	0.817	0.00000638	2166
Missense in Polyphen		38	48.226	0.78796		713
Synonymous	1.40	36	48.4	0.744	0.00000328	794
Loss of Function	1.04	5	8.21	0.609	4.05e-7	150

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: 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. {ECO:0000250|UniProtKB:Q6PGN1}.

Haploinsufficiency Scores

• ghis: 0.393

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Erfe
• Phenotype: liver/biliary system phenotype; hematopoietic system phenotype; homeostasis/metabolism phenotype

Gene ontology

• Biological process: cellular iron ion homeostasis;regulation of signaling receptor activity;regulation of fatty acid metabolic process;positive regulation of fatty acid transport
• Cellular component: extracellular region;extracellular space;cell
• Molecular function: hormone activity;protein homodimerization activity