1. Gene
  2. FLVCR2 - FLVCR heme transporter 2 Gene

FLVCR2 - FLVCR heme transporter 2 Gene

Homo sapiens

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

Gene ID: 55640 | Gene type: protein coding

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

FLVCR2 Protein Structure

MFS_1

MFS_1: Major Facilitator Superfamily (94 - 453)

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  • 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

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