2. Gene
  3. SHMT2 - serine hydroxymethyltransferase 2 Gene

SHMT2 - serine hydroxymethyltransferase 2 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品

中文名称：丝氨酸羟甲基转移酶 2

种属: Homo sapiens

同用名: GLYA; SHMT; mSHMT; NEDCASB; HEL-S-51e

基因 ID: 6472 | 基因类型: protein coding

关于 SHMT2

Cytogenetic location: 12q13.3 Genomic coordinates (GRCh38): 12:57,229,711-57,234,935 (from NCBI)

This gene has 35 transcripts (splice variants), 245 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in liver (RPKM 35.4), lymph node (RPKM 21.8) and 25 other tissues.

功能概要

该基因编码一种磷酸吡哆醛依赖性酶的线粒体形式，该酶催化丝氨酸和四氢叶酸生成甘氨酸和 5,10-亚甲基四氢叶酸的可逆反应。编码产物主要负责甘氨酸的合成。编码蛋白的活性被认为是细胞内甘氨酸的主要来源。编码这种酶的细胞溶质形式的基因位于 17 号染色体上。可变剪接导致多个转录变体。[RefSeq 提供，2009 年 10 月]

This gene encodes the mitochondrial form of a pyridoxal phosphate-dependent Enzyme that catalyzes the reversible reaction of serine and tetrahydrofolate to glycine and 5,10-methylene tetrahydrofolate. The encoded product is primarily responsible for glycine synthesis. The activity of the encoded protein has been suggested to be the primary source of intracellular glycine. The gene which encodes the cytosolic form of this Enzyme is located on chromosome 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

SHMT2 基因产物(5)

mRNA Protein Name
NM_001166356.2 NP_001159828.1 serine hydroxymethyltransferase, mitochondrial isoform 2 precursor
NM_001166357.1 NP_001159829.1 serine hydroxymethyltransferase, mitochondrial isoform 3
NM_001166358.2 NP_001159830.1 serine hydroxymethyltransferase, mitochondrial isoform 3
NM_001166359.1 NP_001159831.1 serine hydroxymethyltransferase, mitochondrial isoform 3
NM_005412.6 NP_005403.2 serine hydroxymethyltransferase, mitochondrial isoform 1 precursor

SHMT2 蛋白结构

SHMT

SHMT: Serine hydroxymethyltransferase (49 - 448)

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

serine hydroxymethyltransferase, mitochondrial

GLY A+

SHMT2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
SHMT2 P34897 CMTM5 Homo sapiens Q96DZ9-2
Y2H Array
26871637
种属内
SHMT2 P34897 CMTM5 Homo sapiens Q96DZ9-2
Validated Y2H
26871637
种属内
SHMT2 P34897 CMTM5 Homo sapiens Q96DZ9-2
Y2H Prey Pooling
26871637
种属内
SHMT2 P34897 CMTM5 Homo sapiens Q96DZ9
Validated Y2H
25416956
种属内
SHMT2 P34897 CAB39 Homo sapiens Q9Y376
Validated Y2H
32296183
种属内
SHMT2 P34897 CAB39 Homo sapiens Q9Y376
Y2H Array
32296183
种属内
SHMT2 P34897 CAB39 Homo sapiens Q9Y376
Y2H Prey Pooling
32296183
种属内
SHMT2 P34897 ARL6IP1 Homo sapiens Q15041
Y2H Array
26871637
种属内
SHMT2 P34897 ARL6IP1 Homo sapiens Q15041
Y2H Array
25416956
种属内
SHMT2 P34897 ARL6IP1 Homo sapiens Q15041
Validated Y2H
25416956
种属内
SHMT2 P34897 ARL6IP1 Homo sapiens Q15041
Validated Y2H
26871637
种属内
SHMT2 P34897 BRCC3 Homo sapiens P46736
Anti Tag CoIP
33961781
种属内
SHMT2 P34897 ARL6IP1 Homo sapiens Q15041
Y2H Prey Pooling
26871637
种属内
SHMT2 P34897 BABAM2 Homo sapiens Q9NXR7
Anti Tag CoIP
33961781
种属内
SHMT2 P34897 BRCC3 Homo sapiens P46736
Lumier
37398436
种属内
SHMT2 P34897 MAL2 Homo sapiens Q969L2
Y2H Prey Pooling
26871637
种属内
SHMT2 P34897 MAL2 Homo sapiens Q969L2
Validated Y2H
26871637
种属内
SHMT2 P34897 MAL2 Homo sapiens Q969L2
Y2H Array
26871637
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities

NEDCASB
Campylobacteriosis

Campylobacter Infections

Campylobacter Infection

Enteric Campylobacteriosis
Serine Deficiency
Neural Tube Defects

Spina Bifida

Neural Tube Defect

NTD

Neural Tube Defects, Susceptibility To

Spinal Dysraphism

Spina Bifida, Susceptibility To

Rachischisis

Cleft Spine

Open Spine

Hydrocele Spinalis

Neural Tube Defect Nos

Sb - [Spina Bifida]

Spinal Hernia Nos

Spinal Fissure Nos
Spastic Paraparesis
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
Polymicrogyria

Pmg
Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy

Cardiomyopathy, Hypertrophic

Cardiomyopathy Hypertrophic Obstructive

Cardiomyopathy, Hypertrophic, Familial

Idiopathic Myocardial Hypertrophy

Idiopathic Hypertrophic Cardiomyopathy

Obstructive Idiopathic Hypertrophic Cardiomyopathy

Obstructive Cardiomyopathy

Idiopathic Hypertrophic Subaortic Stenosis

Muscular Subaortic Stenosis

Hypertrophic Obstructive Subaortic Stenosis
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
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 (4)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-129226 SHMT-IN-2 Inhibitor 99.50% 否
HY-134978 (Rac)-SHIN2 Inhibitor 99.40% 否
HY-148545 SHMT-IN-3 Inhibitor / 否
HY-RS12877 SHMT2 Human Pre-designed siRNA Set A Pre-designed Sets / 否
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