Property Summary

NCBI Gene PubMed Count 16
Grant Count 51
R01 Count 36
Funding $15,129,811.45
PubMed Score 96.23
PubTator Score 12.53

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (18)

Gene RIF (6)

PMID Text
25906927 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.
25677735 Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy
25131804 FLVCR2 mutation is associated with Hydranencephaly.
20823265 Results report the cellular function of FLVCR2 as an importer of heme.
20690116 High-throughput sequence data identified mutations and a large deletion in the FLVCR2 gene casuing lethal cerebral vasculopathy.
20206334 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.

AA Sequence

MVNEGPNQEESDDTPVPESALQADPSVSVHPSVSVHPSVSINPSVSVHPSSSAHPSALAQPSGLAHPSSS      1 - 70
GPEDLSVIKVSRRRWAVVLVFSCYSMCNSFQWIQYGSINNIFMHFYGVSAFAIDWLSMCYMLTYIPLLLP     71 - 140
VAWLLEKFGLRTIALTGSALNCLGAWVKLGSLKPHLFPVTVVGQLICSVAQVFILGMPSRIASVWFGANE    141 - 210
VSTACSVAVFGNQLGIAIGFLVPPVLVPNIEDRDELAYHISIMFYIIGGVATLLLILVIIVFKEKPKYPP    211 - 280
SRAQSLSYALTSPDASYLGSIARLFKNLNFVLLVITYGLNAGAFYALSTLLNRMVIWHYPGEEVNAGRIG    281 - 350
LTIVIAGMLGAVISGIWLDRSKTYKETTLVVYIMTLVGMVVYTFTLNLGHLWVVFITAGTMGFFMTGYLP    351 - 420
LGFEFAVELTYPESEGISSGLLNISAQVFGIIFTISQGQIIDNYGTKPGNIFLCVFLTLGAALTAFIKAD    421 - 490
LRRQKANKETLENKLQEEEEESNTSKVPTAVSEDHL                                      491 - 526
//

Text Mined References (17)

PMID Year Title
25906927 2015 Genetics and molecular biology of brain calcification.
25677735 2016 Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy.
25131804 2015 Hydranencephaly in a newborn with a FLVCR2 mutation and prenatal exposure to cocaine.
20967262 2010 Expression of conjoined genes: another mechanism for gene regulation in eukaryotes.
20823265 2010 The Fowler syndrome-associated protein FLVCR2 is an importer of heme.
20690116 2010 High-throughput sequencing of a 4.1?Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy.
20518025 2010 Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing.
20206334 2010 Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome).
16439531 2006 Comprehensive mapping of receptor-functioning domains in feline leukemia virus subgroup C receptor FLVCR1.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
More...