FOLR3 folate receptor gamma [Homo sapiens (human)] - Gene

Summary

Official Symbol: FOLR3provided by HGNC
Official Full Name: folate receptor gammaprovided by HGNC
Primary source: HGNC:HGNC:3795
See related: Ensembl:ENSG00000110203 MIM:602469; AllianceGenome:HGNC:3795
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FR-G; FRgamma; FR-gamma; gamma-hFR
Summary: This gene encodes a member of the folate receptor (FOLR) family of proteins, which have a high affinity for folic acid and for several reduced folic acid derivatives, and mediate delivery of 5-methyltetrahydrofolate to the interior of cells. Expression of this gene may be elevated in ovarian and primary peritoneal carcinoma. This gene is present in a gene cluster on chromosome 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Expression: Biased expression in bone marrow (RPKM 27.0), appendix (RPKM 4.9) and 3 other tissues See more
Orthologs: all
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Genomic context

Location:: 11q13.4

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (72135725..72139892)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (72062611..72066776)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (71846771..71850936)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

Blood FOLR3 methylation dysregulations and heterogeneity in non-small lung cancer highlight its strong associations with lung squamous carcinoma.
Title: Blood FOLR3 methylation dysregulations and heterogeneity in non-small lung cancer highlight its strong associations with lung squamous carcinoma.
Secreted folate receptor gamma drives fibrogenesis in metabolic dysfunction-associated steatohepatitis by amplifying TGFbeta signaling in hepatic stellate cells.
Title: Secreted folate receptor γ drives fibrogenesis in metabolic dysfunction-associated steatohepatitis by amplifying TGFβ signaling in hepatic stellate cells.
A Novel Immunomodulatory Mechanism by Which Vitamin D Influences Folate Receptor 3 Expression to Reduce COVID-19 Severity.
Title: A Novel Immunomodulatory Mechanism by Which Vitamin D Influences Folate Receptor 3 Expression to Reduce COVID-19 Severity.
A folate receptor 3 SNP promotes mitochondria-induced clonogenicity of CML leukemia cells: Implications for treatment free remission.
Title: A folate receptor 3 SNP promotes mitochondria-induced clonogenicity of CML leukemia cells: Implications for treatment free remission.
Plasma Homocysteine Concentration is Associated with the Expression Level of Folate Receptor 3.
Title: Plasma Homocysteine Concentration is Associated with the Expression Level of Folate Receptor 3.
We identified eight novel variants in SLC19A1 and twelve novel variants in FOLR1, FOLR2, and FOLR3. Pathogenic variants include c.1265delG in SLC19A1 resulting in an early stop codon, four large insertion deletion variants in FOLR3, and a stop_gain variant in FOLR3
Title: Mutations in folate transporter genes and risk for human myelomeningocele.
The rare alleles of specific single nucleotide polymorphisms within the FOLR1, FOLR2, and FOLR3 genes were statistically significant for association with meningomyelocele.
Title: Association of folate receptor (FOLR1, FOLR2, FOLR3) and reduced folate carrier (SLC19A1) genes with meningomyelocele.
Observational study of gene-disease association. (HuGE Navigator)
Title: Association of folate receptor (FOLR1, FOLR2, FOLR3) and reduced folate carrier (SLC19A1) genes with meningomyelocele.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Oral facial clefts and gene polymorphisms in metabolism of folate/one-carbon and vitamin A: a pathway-wide association study.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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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Markers

D11S4433 (e-PCR)
- UniSTS:33060

RH36121 (e-PCR)
- UniSTS:4959

NoName (e-PCR)
- UniSTS:490209

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables folic acid binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in folic acid transport	TAS Traceable Author Statement more info	PubMed
involved_in fusion of sperm to egg plasma membrane involved in single fertilization	IBA Inferred from Biological aspect of Ancestor more info
involved_in sperm-egg recognition	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in external side of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular region	TAS Traceable Author Statement more info
located_in extrinsic component of membrane	TAS Traceable Author Statement more info	PubMed
located_in membrane	TAS Traceable Author Statement more info	PubMed
located_in specific granule lumen	TAS Traceable Author Statement more info
located_in tertiary granule lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: folate receptor gamma

Names: folate receptor 3 (gamma)

NP_000795.2

EC 3.1.3.11

NP_001399199.1

EC 3.1.3.11

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.

Genomic

NG_032935.1 RefSeqGene

Range

5001..9168

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000804.4 → NP_000795.2 folate receptor gamma isoform 1 precursor

See identical proteins and their annotated locations for NP_000795.2

Status: REVIEWED

Description

Transcript Variant: This variant (1, coding) represents the allele encoded by the GRCh38 reference genome and encodes isoform 1.

Source sequence(s)

BC030285, CD368314, U08471

Consensus CDS

CCDS73344.1

UniProtKB/Swiss-Prot

A0A087WXH3, J3KQ90, P41439, Q05C14

Related

ENSP00000481114.1, ENST00000611028.3

Conserved Domains (1) summary

pfam03024
Location:36 → 211

Folate_rec; Folate receptor family
NM_001412270.1 → NP_001399199.1 folate receptor gamma isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2, coding) represents the allele encoded by the T2T-CHM13v2.0 genome assembly and encodes isoform 2.

Source sequence(s)

CP068267

RNA

NR_178088.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2, non-coding) uses the same exon combination as variant 2 but represents the allele present on the GRCh38 reference genome. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AP000812, KF459676

Related

ENST00000612844.4
NR_178089.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (1, non-coding) uses the same exon combination as variant (1, coding) but represents the allele present on the T2T-CHM13v2.0 genome assembly. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

CP068267