FLVCR2 FLVCR choline and putative heme transporter 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FLVCR2provided by HGNC
Official Full Name: FLVCR choline and putative heme transporter 2provided by HGNC
Primary source: HGNC:HGNC:20105
See related: Ensembl:ENSG00000119686 MIM:610865; AllianceGenome:HGNC:20105
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: CCT; EPV; PVHH; MFSD7C; SLC49A2; C14orf58; FLVCRL14q
Summary: This gene encodes a member of the major facilitator superfamily. The encoded transmembrane protein is a calcium transporter. Unlike the related protein feline leukemia virus subgroup C receptor 1, the protein encoded by this locus does not bind to feline leukemia virus subgroup C envelope protein. The encoded protein may play a role in development of brain vascular endothelial cells, as mutations at this locus have been associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome. Alternatively spliced transcript variants have been described.[provided by RefSeq, Aug 2010]
Expression: Broad expression in small intestine (RPKM 10.8), testis (RPKM 9.1) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q24.3

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (75578620..75648167)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (69787736..69857276)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (76044963..76114510)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

MFSD7c functions as a transporter of choline at the blood-brain barrier.
Title: MFSD7c functions as a transporter of choline at the blood-brain barrier.
Variability of non-lethal Fowler syndrome phenotype associated with FLVCR2 variants.
Title: Variability of non-lethal Fowler syndrome phenotype associated with FLVCR2 variants.
Expanding the clinical spectrum of Fowler syndrome: Three siblings with survival into adulthood and systematic review of the literature.
Title: Expanding the clinical spectrum of Fowler syndrome: Three siblings with survival into adulthood and systematic review of the literature.
MFSD7C switches mitochondrial ATP synthesis to thermogenesis in response to heme.
Title: MFSD7C switches mitochondrial ATP synthesis to thermogenesis in response to heme.
Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy
Title: Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy.
Mutations in FLVCR2 gene are responsible for Proliferative vasculopathy and Hydranencephaly-hydrocephaly syndrome. FLVCR2 transporter is gatekeeper for the controlled entry of calcium into cell, and involves the regulation of calcium metabolism.
Title: Genetics and molecular biology of brain calcification.
FLVCR2 mutation is associated with Hydranencephaly.
Title: Hydranencephaly in a newborn with a FLVCR2 mutation and prenatal exposure to cocaine.
High-throughput sequence data identified mutations and a large deletion in the FLVCR2 gene casuing lethal cerebral vasculopathy.
Title: High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy.
Results report the cellular function of FLVCR2 as an importer of heme.
Title: The Fowler syndrome-associated protein FLVCR2 is an importer of heme.
Direct sequencing of candidate genes within the target interval in chromosome 14q24.3 revealed five different germline mutations in FLVCR2 in five families with Fowler syndrome.
Title: Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome).

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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

Associated conditions

Description	Tests
Fowler syndrome MedGen: C1856972 OMIM: 225790 GeneReviews: Not available	Compare labs

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

GDB:434012 (e-PCR)
- UniSTS:157204

RH75673 (e-PCR)
- UniSTS:86302

D8S2279 (e-PCR)
- UniSTS:473907

L18426 (e-PCR)
- UniSTS:34648

SHGC-34049 (e-PCR)
- UniSTS:83362

RH91415 (e-PCR)
- UniSTS:86462

STS-T79170 (e-PCR)
- UniSTS:56817

A004T16 (e-PCR)
- UniSTS:41727

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables heme binding	IBA Inferred from Biological aspect of Ancestor more info
enables heme binding	IDA Inferred from Direct Assay more info	PubMed
enables heme transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables heme transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in heme export	IBA Inferred from Biological aspect of Ancestor more info
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: heme transporter FLVCR2

Names: FLVCR heme transporter 2; calcium-chelate transporter; feline leukemia virus subgroup C cellular receptor family member 2; feline leukemia virus subgroup C receptor-related protein 2

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_027694.1 RefSeqGene

Range

5024..74571

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001195283.2 → NP_001182212.1 heme transporter FLVCR2 isoform 2

See identical proteins and their annotated locations for NP_001182212.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.

Source sequence(s)

AK297002, AY260577, CR739521

Consensus CDS

CCDS55933.1

UniProtKB/Swiss-Prot

Q9UPI3

Related

ENSP00000443439.1, ENST00000539311.5

Conserved Domains (2) summary

cd06174
Location:19 → 283

MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...

pfam07690
Location:19 → 249

MFS_1; Major Facilitator Superfamily
NM_017791.3 → NP_060261.2 heme transporter FLVCR2 isoform 1

See identical proteins and their annotated locations for NP_060261.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AY260577, BC019087, CR739521, DA166212

Consensus CDS

CCDS9844.1

UniProtKB/Swiss-Prot

B7Z485, Q53ZT9, Q96JY3, Q9NX90, Q9UPI3

Related

ENSP00000238667.4, ENST00000238667.9

Conserved Domains (1) summary

cd06174
Location:88 → 488

MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...