Seroatlas · Human Serome Atlas

FLVCR2

Choline/ethanolamine transporter FLVCR2

Also known as: C14orf58, CCT, FLJ20371, FLVC2_HUMAN, MFSD7C, SLC49A2

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9UPI3
Gene: FLVCR2
Ensembl: ENSG00000119686
Chromosome: 14
Canonical length: 526 aa
Protein class: Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

526 residues, UniProt reviewed canonical sequence.

>Q9UPI3|FLVCR2
     1  MVNEGPNQEE SDDTPVPESA LQADPSVSVH PSVSVHPSVS INPSVSVHPS SSAHPSALAQ
    61  PSGLAHPSSS GPEDLSVIKV SRRRWAVVLV FSCYSMCNSF QWIQYGSINN IFMHFYGVSA
   121  FAIDWLSMCY MLTYIPLLLP VAWLLEKFGL RTIALTGSAL NCLGAWVKLG SLKPHLFPVT
   181  VVGQLICSVA QVFILGMPSR IASVWFGANE VSTACSVAVF GNQLGIAIGF LVPPVLVPNI
   241  EDRDELAYHI SIMFYIIGGV ATLLLILVII VFKEKPKYPP SRAQSLSYAL TSPDASYLGS
   301  IARLFKNLNF VLLVITYGLN AGAFYALSTL LNRMVIWHYP GEEVNAGRIG LTIVIAGMLG
   361  AVISGIWLDR SKTYKETTLV VYIMTLVGMV VYTFTLNLGH LWVVFITAGT MGFFMTGYLP
   421  LGFEFAVELT YPESEGISSG LLNISAQVFG IIFTISQGQI IDNYGTKPGN IFLCVFLTLG
   481  AALTAFIKAD LRRQKANKET LENKLQEEEE ESNTSKVPTA VSEDHL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FLVCR2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Cell surface
Secreted: No
Transmembrane segments: 12
Mean surface accessibility (rSASA): 0.31
Highest tissue expression: 29 nTPM

Expression across tissuesHPA

Tissue

choroid plexus: 29 nTPM
small intestine: 23 nTPM
testis: 20 nTPM
liver: 19 nTPM
duodenum: 16 nTPM
lung: 15 nTPM

Single-cell type

retinal pigment epithelial cells: 371 nCPM
kupffer cells: 192 nCPM
choroid plexus epithelial cells: 140 nCPM
enterocytes: 119 nCPM
sertoli cells: 88 nCPM
renal collecting duct intercalated cells: 82 nCPM

Immune cell

intermediate monocyte: 15 nTPM
classical monocyte: 14 nTPM
non-classical monocyte: 12 nTPM
myeloid DC: 7.6 nTPM
total PBMC: 4.1 nTPM
T-reg: 1.6 nTPM

Brain region

choroid plexus: 31 nTPM
white matter: 9.3 nTPM
spinal cord: 8.8 nTPM
thalamus: 8.2 nTPM
medulla oblongata: 7.8 nTPM
pons: 5.7 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FLVCR2.

Disease | AllUniProt

Conditions FLVCR2 is implicated in, by any mechanism.

Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) MIM:225790

Disease | GeneticClinVar

21 pathogenic / likely-pathogenic of 273 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.93
gnomAD pLI: 0
gnomAD missense Z: 0.06
DepMap mean gene effect: 0
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of FLVCR2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads FLVCR2 as an antibody target. Whether an autoantibody or antibody against FLVCR2 could matter depends on whether native FLVCR2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

FLVCR2 is annotated at the cell surface, where native FLVCR2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label FLVCR2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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