2. Gene
  3. MFSD2A - MFSD2 lysolipid transporter A, lysophospholipid Gene

MFSD2A - MFSD2 lysolipid transporter A, lysophospholipid Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：MFSD2 溶血脂质转运蛋白 A，溶血磷脂

种属: Homo sapiens

同用名: NLS1; MFSD2; MCPH15; SLC59A1; HsMFSD2A; NEDMISBA

基因 ID: 84879 | 基因类型: protein coding

关于 MFSD2A

Cytogenetic location: 1p34.2 Genomic coordinates (GRCh38): 1:39,955,145-39,969,956 (from NCBI)

This gene has 10 transcripts (splice variants), 283 orthologues, 2 paralogues and is associated with 3 phenotypes. Broad expression in testis (RPKM 27.5), lung (RPKM 23.6) and 14 other tissues.

功能概要

该基因编码的蛋白质是一种跨膜蛋白和钠依赖性溶血磷脂酰胆碱转运蛋白。编码的蛋白质参与血脑屏障的建立，是大脑生长和功能所必需的。该基因的缺陷是进行性小头畸形综合征的原因。[RefSeq 提供，2017 年 3 月]

The protein encoded by this gene is a transmembrane protein and sodium-dependent lysophosphatidylcholine transporter. The encoded protein is involved in the establishment of the blood-brain barrier and is required for brain growth and function. Defects in this gene are a cause of a progressive microcephaly syndrome. [provided by RefSeq, Mar 2017]

MFSD2A 基因产物(7)

mRNA Protein Name
NM_001136493.3 NP_001129965.1 sodium-dependent lysophosphatidylcholine symporter 1 isoform 1
NM_001287808.2 NP_001274737.1 sodium-dependent lysophosphatidylcholine symporter 1 isoform 3
NM_001287809.2 NP_001274738.1 sodium-dependent lysophosphatidylcholine symporter 1 isoform 4
NM_001349821.2 NP_001336750.1 sodium-dependent lysophosphatidylcholine symporter 1 isoform 6
NM_001349822.2 NP_001336751.1 sodium-dependent lysophosphatidylcholine symporter 1 isoform 7
NM_001349823.2 NP_001336752.1 sodium-dependent lysophosphatidylcholine symporter 1 isoform 8
NM_032793.5 NP_116182.2 sodium-dependent lysophosphatidylcholine symporter 1 isoform 2
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 long-chain fatty acid transmembrane transporter activity IMP
IMP: 通过突变表型推断
26005865 GOA
enables lysophospholipid:sodium symporter activity IDA
IDA: 通过直接分析推断
24828044 GOA
enables oleate transmembrane transporter activity IMP
IMP: 通过突变表型推断
26005865 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within brain development IMP
IMP: 通过突变表型推断
26005865 GOA
acts upstream of cognition IMP
IMP: 通过突变表型推断
26005868 GOA
involved in fatty acid transport IMP
IMP: 通过突变表型推断
26005865 GOA
involved in lipid transport across blood-brain barrier IMP
IMP: 通过突变表型推断
26005865 GOA
involved in lysophospholipid translocation IMP
IMP: 通过突变表型推断
26005865 GOA
involved in lysophospholipid transport IDA
IDA: 通过直接分析推断
24828044 GOA
involved in lysophospholipid transport IMP
IMP: 通过突变表型推断
26005868 GOA
acts upstream of regulation of phosphatidylcholine metabolic process IMP
IMP: 通过突变表型推断
26005868 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in plasma membrane IDA
IDA: 通过直接分析推断
26005865 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

MFSD2A 蛋白结构

MFS_2

MFS_2: MFS/sugar transport protein (46 - 509)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 543 a.a.
蛋白主名 其他名称

sodium-dependent lysophosphatidylcholine symporter 1

major facilitator superfamily domain containing 2A

关联疾病

疾病名称 别名
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities

Microcephaly 15, Primary, Autosomal Recessive

NEDMISBA

Mcph15

Primary Autosomal Recessive Microcephaly 15

Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Abnormalities
Febrile Seizures

Febrile Seizure

Febrile Convulsions

Seizures Febrile
Cryptorchidism, Unilateral Or Bilateral

Cryptorchidism

Undescended Testicle

Undescended Testis

Cryptorchism

Undescended Testicles

CRYPTO

Impaired Testicular Descent

Cryptosporidiosis

Retained Testis

Unilateral Cryptorchidism

Unilateral Undescended Testis

Nondescent Unilateral Testicle

Unilateral Cryptorchism

Ectopic Testis, Unilateral

Bilateral Cryptorchidism

Bilateral Cryptorchism

Bilateral Nondescent Testicle

Bilateral Undescended Testes

Bilateral Ectopic Testes
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
Primary Autosomal Recessive Microcephaly

Autosomal Recessive Primary Microcephaly

Mcph

True Microcephaly

Microcephalia Vera

Microcephaly Vera

Microcephaly Primary Hereditary

Microcephaly, Primary, Autosomal Recessive

Primary Microcephaly
Microcephaly 16, Primary, Autosomal Recessive

MCPH16

Primary Autosomal Recessive Microcephaly 16
Microcephaly 13, Primary, Autosomal Recessive

MCPH13

Primary Autosomal Recessive Microcephaly 13

Microcephaly, Type 13, Primary, Autosomal Recessive
Primary Microcephaly

True Microcephaly

Microcephaly, Primary
Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder
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

相关产品

Pre-clinical Phase
生物活性分子 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-171264 Mfsd2a Mouse Pre-designed siRNA Set A Pre-designed Sets ≥90.0% 否
HY-RS08391 MFSD2A Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus MFSD2A RGD RGD:1310174
Felis catus MFSD2A VGNC VGNC:63479
Mus musculus MFSD2A MGD MGI:1923824
Canis familiaris MFSD2A VGNC VGNC:43200
Bos taurus MFSD2A VGNC VGNC:31435
Macaca mulatta MFSD2A VGNC VGNC:74585
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