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FLVCR2 - FLVCR heme transporter 2 Gene

Also Known as CCT; EPV; PVHH; MFSD7C; SLC49A2; C14orf58; FLVCRL14q

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55640

About FLVCR2

Cytogenetic location: 14q24.3 Genomic coordinates (GRCh38): 14:75,578,620-75,648,167 (from NCBI)

This gene has 13 transcripts (splice variants), 322 orthologues, 4 paralogues and is associated with 3 phenotypes. Broad expression in small intestine (RPKM 10.8), testis (RPKM 9.1) and 21 other tissues.

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]

FLVCR2 Products (2)

mRNA	Protein	Name
NM_001195283.2	NP_001182212.1	feline leukemia virus subgroup C receptor-related protein 2 isoform 2
NM_017791.3	NP_060261.2	feline leukemia virus subgroup C receptor-related protein 2 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables choline transmembrane transporter activity	IDA IDA: Inferred from direct assay	38302740	GOA
enables ethanolamine transmembrane transporter activity	IDA IDA: Inferred from direct assay	38778100	GOA
enables heme binding	IDA IDA: Inferred from direct assay	20823265	GOA
enables heme transmembrane transporter activity	IDA IDA: Inferred from direct assay	20823265	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in choline transport	IDA IDA: Inferred from direct assay	38302740	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	32973183	GOA
located in mitochondrial membrane	IDA IDA: Inferred from direct assay	32973183	GOA
is active in plasma membrane	IDA IDA: Inferred from direct assay	38302740	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FLVCR2 Protein Structure

MFS_1

0
100
200
300
400
500
526 a.a.

Protein Preferred Names	Protein Names
feline leukemia virus subgroup C receptor-related protein 2	calcium-chelate transporter

Related Diseases

Diseases	Alias
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Fowler Syndrome Encephaloclastic Proliferative Vasculopathy Hydrocephaly/Hydranencephaly Due To Cerebral Vasculopathy PVHH Epv Cerebral Proliferative Glomeruloid Vasculopathy Hydranencephaly, Fowler Type Proliferative Vasculopathy And Hydranencephaly/Hydrocephaly Fowler'S Syndrome Fowler Christmas Chapple Syndrome Fowler Vasculopathy Polycystic Ovaries Urethral Sphincter Dysfunction Voiding Dysfunction And Polycystic Ovaries Fowler Vasculopaty Hydranencephaly Fowler Type Pgv Polycystic Ovaries-Urethral Sphincter Dysfunction Syndrome
Hydranencephaly	Hydroanencephaly
Leukemia	Leukemias Leukaemia, Unspecified, Without Mention Of Remission Aleukemic Leukaemia Chronic Leukaemia Subacute Leukaemia Leukaemia Disorder Leukaemia Nos
Lissencephaly 5	LIS5 Cobblestone Lissencephaly Without Muscular Or Ocular Involvement Cobblestone Lissencephaly Without Muscular Or Eye Involvement Lissencephaly Type 2 Without Muscular Or Eye Involvement Lissencephaly Type 2 Without Muscular Or Ocular Involvement Lissencephaly, Type 5
Alkuraya-Kucinskas Syndrome	ALKKUCS Kiaa1109-Related Early Lethal Congenital Brain Malformations-Arthrogryposis Syndrome Arthrogryposis
Trombiculiasis
Folate Malabsorption, Hereditary	Hereditary Folate Malabsorption Congenital Defect Of Folate Absorption Congenital Folate Malabsorption Folic Acid Transport Defect HFM
Multiple Pterygium Syndrome, Escobar Variant	Multiple Pterygium Syndrome Pterygium Escobar Syndrome EVMPS Pterygium Syndrome Autosomal Recessive Multiple Pterygium Syndrome Pterygium Colli Syndrome Pterygium Universale Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome Escobar Variant Multiple Pterygium Syndrome Multiple Pterygium Syndrome, Nonlethal Type Surfer'S Eye Multiple Pterygium Syndrome Escobar Type Multiple Pterygium Syndrome Nonlethal Type Familial Pterygium Syndrome Pterygium Colli Multiple Pterygium Syndrome, Non-Lethal Type Nonlethal Type Multiple Pterygium Syndrome Pterygium Syndrome, Multiple, Escobar Type Pterygium Of Eye Web Eye
Lipoma Of Colon	Colonic Lipoma Colon Lipoma
Large Intestine Lipoma	Lipoma Of Large Intestine Colorectal Lipoma
Poland Syndrome	Poland Anomaly Poland Sequence Poland Syndactyly Poland'S Syndrome Poland'S Anomaly Poland'S Syndactyly Acro-Pectoro-Renal Field Defect Brachydactyly, Absent Pectoral Muscles And Agenesis/Hypoplasia Of Kidneys Unilateral Defect Of Pectoralis Muscle And Syndactyly Of The Hand Unilateral Defect Of Pectoralis Major And Syndactyly Of The Hand
Brain Small Vessel Disease 1	Col4a1-Related Brain Small Vessel Disease With Hemorrhage Col4a1-Related Familial Vascular Leukoencephalopathy Col4a1-Related Retinal Arteriolar Tortuosity-Infantile Hemiparesis-Autosomal Dominant Leukoencephalopathy Syndrome Autosomal Dominant Retinal Arteriolar Tortuosity, Infantile Hemiparesis, And Leukencephalopathy Brain Small Vessel Disease With Axenfeld-Riegar Anomaly Brain Small Vessel Disease With Hemorrhage Brain Small Vessel Disease With Or Without Ocular Anomalies Bsvd1 Infantile Hemiparesis Leukoencephalopathy With Axenfeld-Riegar Anomaly
Anencephaly	Aprosencephaly Anencephalus Congenital Absence Of Brain Absence Of A Large Part Of The Brain And The Skull Anencephalia Anencephalic Monster Brain Absence Brain Agenesis Brain Aplasia Absent Brain Anencephalic Congenital Absence Of Cerebrum Congenital Hemicrania Incomplete Anencephaly
Deficiency Anemia	Anemia Deficiency Anemias Anaemia
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04998	FLVCR2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21132	Flvcr2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27650	Flvcr2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	FLVCR2	VGNC	VGNC:80971
Macaca mulatta	FLVCR2	VGNC	VGNC:82538
Rattus norvegicus	FLVCR2	RGD	RGD:735098
Canis familiaris	FLVCR2	VGNC	VGNC:56060
Mus musculus	FLVCR2	MGD	MGI:2384974
Others	FLVCR2	NCBI