FLVCR2 - FLVCR heme transporter 2 Gene

中文名称：FLVCR 血红素转运体 2

种属: Homo sapiens

同用名: CCT; EPV; PVHH; MFSD7C; SLC49A2; C14orf58; FLVCRL14q

基因 ID: 55640 | 基因类型: protein coding

关于 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.

功能概要

该基因编码主要促进子超家族的成员。编码的跨膜蛋白是一种钙转运蛋白。与相关蛋白猫白血病病毒亚组 C 受体 1 不同，该位点编码的蛋白质不与猫白血病病毒亚组 C 包膜蛋白结合。编码的蛋白质可能在脑血管内皮细胞的发育中发挥作用，因为该位点的突变与增殖性血管病和脑积水-脑积水综合征有关。已经描述了选择性剪接的转录本变体。[RefSeq 提供，2010 年 8 月]

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 基因产物(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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables choline transmembrane transporter activity	IDA IDA: 通过直接分析推断	38302740	GOA
enables ethanolamine transmembrane transporter activity	IDA IDA: 通过直接分析推断	38778100	GOA
enables heme binding	IDA IDA: 通过直接分析推断	20823265	GOA
enables heme transmembrane transporter activity	IDA IDA: 通过直接分析推断	20823265	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in choline transport	IDA IDA: 通过直接分析推断	38302740	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in endoplasmic reticulum membrane	IDA IDA: 通过直接分析推断	32973183	GOA
located in mitochondrial membrane	IDA IDA: 通过直接分析推断	32973183	GOA
is active in plasma membrane	IDA IDA: 通过直接分析推断	38302740	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

FLVCR2 蛋白结构

MFS_1

0
100
200
300
400
526 a.a.

蛋白主名

其他名称

feline leukemia virus subgroup C receptor-related protein 2

calcium-chelate transporter

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS04998	FLVCR2 Human Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS21132	Flvcr2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS27650	Flvcr2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 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

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

粤ICP备2021105330号-3

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

FLVCR2 - FLVCR heme transporter 2 Gene

关于 FLVCR2

功能概要

FLVCR2 基因产物(2)

FLVCR2 蛋白结构

关联疾病

直系同源

热门区域

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FLVCR2 - FLVCR heme transporter 2 Gene

关于 FLVCR2

功能概要

FLVCR2 基因产物(2)

FLVCR2 蛋白结构

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z