2. Gene
  3. MTHFD2L - methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2 like Gene

MTHFD2L - methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2 like Gene

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

中文名称：亚甲基四氢叶酸脱氢酶 (依赖 NADP+) 2

种属: Homo sapiens

基因 ID: 441024 | 基因类型: protein coding

关于 MTHFD2L

Cytogenetic location: 4q13.3 Genomic coordinates (GRCh38): 4:74,114,560-74,303,099 (from NCBI)

This gene has 15 transcripts (splice variants), 197 orthologues and 3 paralogues. Low expression observed in reference dataset.

功能概要

预测具有亚甲基四氢叶酸环化水解酶活性；亚甲基四氢叶酸脱氢酶 (NAD+) 活性；和亚甲基四氢叶酸脱氢酶 (NADP+) 活性。预计参与四氢叶酸相互转化。预测位于线粒体基质中。预测在线粒体中活跃。 [由基因组资源联盟提供，2022 年 4 月]

Predicted to enable methenyltetrahydrofolate cyclohydrolase activity; methylenetetrahydrofolate dehydrogenase (NAD+) activity; and methylenetetrahydrofolate dehydrogenase (NADP+) activity. Predicted to be involved in tetrahydrofolate interconversion. Predicted to be located in mitochondrial matrix. Predicted to be active in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]

MTHFD2L 基因产物(7)

mRNA Protein Name
NM_001004346.4 NP_001004346.2 bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform 1
NM_001144978.3 NP_001138450.1 bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform 2
NM_001351310.2 NP_001338239.1 bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform 3
NM_001351311.2 NP_001338240.1 bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform 3
NM_001351314.2 NP_001338243.1 bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform 4
NM_001351329.2 NP_001338258.1 bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform 5
NM_001351331.2 NP_001338260.1 bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform 6
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
28514442 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

MTHFD2L 蛋白结构

THF_DHG_CYH

THF_DHG_CYH: Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain (53 - 169)

THF_DHG_CYH_C

THF_DHG_CYH_C: Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain (172 - 344)

  • 0
  • 100
  • 200
  • 300
  • 347 a.a.
蛋白主名 其他名称

bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial

MTHFD2-like

关联疾病

疾病名称 别名
Cutis Laxa, Autosomal Dominant 3

ADCL3

Autosomal Dominant Cutis Laxa 3

Cutis Laxa, Autosomal Dominant, 3
Cutis Laxa, Autosomal Dominant 1

Cutis Laxa, Autosomal Dominant

Autosomal Dominant Cutis Laxa

ADCL1

Adcl

Autosomal Dominant Cutis Laxa 1

Cutis Laxa, Autosomal Dominant, 1

Cutis Laxa, Autosomal Dominant, Type 1
Cutis Laxa, Autosomal Dominant 2

ADCL2

Autosomal Dominant Cutis Laxa 2

Cutis Laxa, Autosomal Dominant, 2

Cutis Laxa, Autosomal Dominant, Type 2
Glycine Encephalopathy

Non-Ketotic Hyperglycinemia

Nonketotic Hyperglycinemia

NKH

GCE

Hyperglycinemia, Nonketotic

Hyperglycinemia Nonketotic

Infantile Glycine Encephalopathy

Encephalopathy, Glycine

Glycine Synthase Deficiency

Nka

Neonatal Glycine Encephalopathy

Classic Glycine Encephalopathy

Neonatal Nkh

Neonatal Non-Ketotic Hyperglycinemia

Infantile Nkh

Infantile Non-Ketotic Hyperglycinemia

Non-Ketotic Hyperglycinaemia

Glycine Cleavage Deficiency

Nonketotic Hyperglycinaemia
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-155219 TH9028 Inhibitor / 否
HY-RS08777 MTHFD2L Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus MTHFD2L MGD MGI:1915871
Macaca mulatta MTHFD2L VGNC VGNC:100249
Rattus norvegicus MTHFD2L RGD RGD:1310879
Canis familiaris MTHFD2L VGNC VGNC:51777
Felis catus MTHFD2L VGNC VGNC:107350
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