1. Gene
  2. TPH2 - tryptophan hydroxylase 2 Gene

TPH2 - tryptophan hydroxylase 2 Gene

中文名称:色氨酸羟化酶 2

种属: Homo sapiens

同用名: NTPH; ADHD7

基因 ID: 121278 | 基因类型: protein coding

关于 TPH2

Cytogenetic location: 12q21.1 Genomic coordinates (GRCh38): 12:71,938,845-72,032,440 (from NCBI)

This gene has 6 transcripts (splice variants), 199 orthologues, 3 paralogues and is associated with 2 phenotypes. Low expression observed in reference dataset.

功能概要

该基因编码依赖蝶呤的芳香酸羟化酶家族的一个成员。编码的蛋白质催化血清素生物合成的第一步和限速步骤,血清素是一种重要的激素和神经递质。该基因的突变可能与双相情感障碍和重度抑郁症等精神疾病有关。[RefSeq 提供,2016 年 2 月]

This gene encodes a member of the pterin-dependent aromatic acid hydroxylase family. The encoded protein catalyzes the first and rate limiting step in the biosynthesis of serotonin, an important hormone and neurotransmitter. Mutations in this gene may be associated with psychiatric diseases such as bipolar affective disorder and major depression. [provided by RefSeq, Feb 2016]

TPH2 基因产物(1)

mRNA Protein Name
NM_173353.4 NP_775489.2 tryptophan 5-hydroxylase 2
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 tryptophan 5-monooxygenase activity IDA
IDA: 通过直接分析推断
37608910 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

TPH2 蛋白结构

ACT

ACT: ACT domain (65 - 114)

Biopterin_H

Biopterin_H: Biopterin-dependent aromatic amino acid hydroxylase (152 - 483)

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

tryptophan 5-hydroxylase 2

neuronal tryptophan hydroxylase

关联疾病

疾病名称 别名
Major Depressive Disorder

Seasonal Affective Disorder

Unipolar Depression

Depression

MDD

Depressive Disorder

Unipolar Depression, Susceptibility To

Major Depressive Disorder 1

Major Depressive Disorder, Response To Citalopram Therapy In

Major Depressive Disorder 2

Winter Depression

Single Major Depressive Episode

Sad

Clinical Depression

Major Depression

Depressive Syndrome

Major Depressive Disorder And Accelerated Response To Antidepressant Drug Treatment

Seasonal Affective Disorder, Susceptibility To

Recurrent Major Depression

Affective Disorder, Seasonal

Depression In A Seasonal Pattern

Depression

Seasonal

Major Depressive Disorder With A Seasonal Pattern

Seasonal Depression

Seasonal Mood Disorder

Mental Depression

Recurrent Major Depressive Episodes

Major Affective Disorder 1

Bipolar Affective Disorder

MAFD1

Manic-Depressive Psychosis

Md1

Bpad

Manic-Depressive Psychosis, Autosomal

Bipolar Affective Disorder, Susceptibility To

Bipolar Disorder

Personality Disorder

Personality Disorders

Character Disorder

Personality

Specific Personality Disorders

Enduring Personality Change After Psychiatric Illness

Attention Deficit-Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder

ADHD

Attention Deficit Disorder

Attention Deficit-Hyperactivity Disorder, Susceptibility To

Attention Deficit Disorder With Hyperactivity

Hyperkinetic Disorder

Hyperactivity Of Childhood

Attention-Deficit/Hyperactivity Disorder

Add

Addh

Attention Deficit

Attention Deficit Disorder Of Childhood With Hyperactivity

Attention Deficit Disorder With Hyperactivity Syndrome

Hyperkinetic Syndrome

Attention-Deficit Hyperactivity Disorder

Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type

Disturbance Of Activity And Attention

Disorder Of Activity And Attention

Adhd - [Attention Deficit Hyperactivity Disorder]

Hyperkinetic Disorders

Disorder Of Activity And Attention With Hyperkinesia

Attention Deficit Syndrome With Hyperactivity

Panic Disorder

Panic Anxiety Syndrome

Panic

Panic Disorder 1

Episodic Paroxysmal Anxiety Disorder

Obsessive-Compulsive Disorder

OCD

Obsessive-Compulsive Disorder, Susceptibility To

Anancastic Neurosis

Obsessive Compulsive Disorder

Anankastic Neurosis

Obsessive-Compulsive Neurosis

Obsessive Compulsive Behavior

Anxiety

Anxiety Disorder

Anxiety Disorders

Anxiety State

Anxieties

Anxiety Neurosis

Sudden Infant Death Syndrome

SIDS

Sudden Infant Death Syndrome, Susceptibility To

Cot Death

Crib Death

Sudden Death Of Nonspecific Cause In Infancy

Sudden Infant Death

Death, Sudden, Syndrome, Infant

Borderline Personality Disorder
Bipolar Disorder

Bipolar Depression

Manic Disorder

Depression, Bipolar

Bipolar Disorder Manic Phase

Depressive-Manic Psych.

Manic Bipolar Affective Disorder

Manic Bipolar I Disorder

Manic Depression

Manic Depressive Disorder

Mixed Bipolar Disorder

Bipolar Affective Disorder

Bipolar Affective Psychosis

Bipolar Spectrum Disorder

Manic Depressive Illness

Depression Bipolar

Bipolar Disorder, Mixed

Major Affective Disorder

Major Affective Disorder 1

Major Affective Disorder 2

Mood Disorder

Mood Disorders

Episodic Mood Disorder

Hypertryptophanemia

HYPTRP

Hypertryptophanemia, Familial

Familial Hypertryptophanemia

Alcohol Dependence

Alcoholism

Alcohol Dependence, Susceptibility To

Alcohol Dependence, Protection Against

Aerodigestive Tract Cancer, Squamous Cell, Alcohol-Related, Protection Against

Alcoholism, Susceptibility To

Alcoholic Intoxication, Chronic

Pharyngeal Neoplasms

Chronic Alcoholism

Dipsomania

Alcohol Addiction

Ethanol Dependence

Chronic Ethanolism

Chronic Alcoholic Disease Nos

Alcoholic Disease Nos

Alcoholic

Schizophrenia 3

SCZD3

Schizophrenia Susceptibility Locus, Chromosome 6-Related

Schizophrenia 3 With Or Without An Affective Disorder

Mouth Disease

Mouth Diseases

Mouth Disorders

Prader-Willi Syndrome

Prader-Labhart-Willi Syndrome

PWS

Willi-Prader Syndrome

Prader-Willi Syndrome Due To Translocation

Prader-Willi Syndrome Due To Imprinting Mutation

Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15

Prader Willi Syndrome

Upd(15)Mat

Mental Depression

Depression

Depressive Disorder

Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

Endogenous Depression

Clinical Depression

Unipolar Depression

Depressive Disorder

Psychotic Disorder

Psychotic Disorders

Mental Or Behavioural Disorder

Psychotic

Mental Disorders

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

直系同源

种属 基因名 来源 基因 ID
Felis catus TPH2 VGNC VGNC:66474
Bos taurus TPH2 VGNC VGNC:56230
Macaca mulatta TPH2 VGNC VGNC:79270
Mus musculus TPH2 MGD MGI:2651811
Rattus norvegicus TPH2 RGD RGD:631332
Canis familiaris TPH2 VGNC VGNC:47739
Others TPH2 NCBI