1. Gene
  2. ANK3 - ankyrin 3 Gene

ANK3 - ankyrin 3 Gene

中文名称:锚蛋白 3

种属: Homo sapiens

同用名: MRT37; ANKYRIN-G

基因 ID: 288 | 基因类型: protein coding

关于 ANK3

Cytogenetic location: 10q21.2 Genomic coordinates (GRCh38): 10:60,026,298-60,733,528 (from NCBI)

This gene has 32 transcripts (splice variants), 241 orthologues, 3 paralogues and is associated with 2 phenotypes. Broad expression in kidney (RPKM 10.0), brain (RPKM 9.0) and 23 other tissues.

功能概要

锚蛋白是一个蛋白质家族,被认为将完整的膜蛋白与底层的血影蛋白-肌动蛋白细胞骨架联系起来,并在细胞运动、激活、增殖、接触和维持专门的膜结构域等活动中发挥关键作用。对各种靶蛋白具有不同亲和力的锚蛋白的多种亚型以组织特异性、发育调节的方式表达。大多数锚蛋白通常由三个结构域组成:包含多个锚蛋白重复序列的氨基末端域;具有高度保守的血影蛋白结合域的中心区域;和一个羧基末端调节结构域,它是最不保守的并且容易发生变异。锚蛋白 3 是一种免疫学上不同于锚蛋白 1 和 2 的基因产物,最初发现于中枢和周围神经系统中神经元的轴突起始段和朗飞叶节点。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供,2011 年 2 月]

Ankyrins are a family of proteins that are believed to link the integral membrane proteins to the underlying spectrin-actin Cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact, and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 3 is an immunologically distinct gene product from ankyrins 1 and 2, and was originally found at the axonal initial segment and nodes of Ranvier of neurons in the central and peripheral nervous systems. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]

ANK3 基因产物(5)

mRNA Protein Name
NM_001149.4 NP_001140.2 ankyrin-3 isoform 2
NM_001204403.2 NP_001191332.1 ankyrin-3 isoform 3
NM_001204404.2 NP_001191333.1 ankyrin-3 isoform 4
NM_001320874.2 NP_001307803.1 ankyrin-3 isoform 5
NM_020987.5 NP_066267.2 ankyrin-3 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 protein binding IPI
IPI: 通过物理相互作用推断
15231748 GOA
enables structural constituent of cytoskeleton IMP
IMP: 通过突变表型推断
17620337 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in Golgi to plasma membrane protein transport IMP
IMP: 通过突变表型推断
17620337 GOA
involved in establishment of protein localization IMP
IMP: 通过突变表型推断
15611082 GOA
involved in maintenance of protein location in plasma membrane IGI
IGI: 通过遗传相互作用推断
17620337 GOA
involved in membrane assembly IMP
IMP: 通过突变表型推断
14757759 GOA
involved in mitotic cytokinesis IMP
IMP: 通过突变表型推断
14757759 GOA
involved in plasma membrane organization IMP
IMP: 通过突变表型推断
17620337 GOA
involved in protein localization to plasma membrane IGI
IGI: 通过遗传相互作用推断
18180363 GOA
involved in protein localization to plasma membrane IMP
IMP: 通过突变表型推断
14757759 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in axon initial segment IDA
IDA: 通过直接分析推断
27356871 GOA
located in basal plasma membrane IDA
IDA: 通过直接分析推断
21223964 GOA
located in basolateral plasma membrane IDA
IDA: 通过直接分析推断
15611082 GOA
colocalizes with bicellular tight junction IDA
IDA: 通过直接分析推断
14757759 GOA
located in lateral plasma membrane IDA
IDA: 通过直接分析推断
14757759 GOA
located in sarcolemma IDA
IDA: 通过直接分析推断
21223964 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

ANK3 蛋白结构

Ank_2

Ank_2: Ankyrin repeats (3 copies) (48 - 136)

Ank

Ank: Ankyrin repeat (139 - 167)

Ank

Ank: Ankyrin repeat (172 - 195)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (240 - 327)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (338 - 427)

Ank_4

Ank_4: Ankyrin repeats (many copies) (433 - 486)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (493 - 560)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (569 - 659)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (669 - 759)

Ank

Ank: Ankyrin repeat (762 - 793)

ZU5

ZU5: ZU5 domain (982 - 1085)

Death

Death: Death domain (4094 - 4171)

  • 0
  • 700
  • 1400
  • 2100
  • 2800
  • 3500
  • 4377 a.a.
蛋白主名 其他名称

ankyrin-3

ankyrin 3, node of Ranvier (ankyrin G)

ANK3 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
ANK3 Q12955 SMAD2 Homo sapiens Q15796
Display Tech
20195357
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
Intellectual Developmental Disorder, Autosomal Recessive 37

MRT37

Mental Retardation, Autosomal Recessive 37

Autosomal Recessive Intellectual Developmental Disorder 37

Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome

Mental Retardation, Autosomal Recessive, Type 37

Neuroma
Sleep Disorder

Sleep Disorders

Non-Organic Sleep Disorder

Brugada Syndrome

Sudden Unexpected Nocturnal Death Syndrome

Sudden Unexplained Nocturnal Death Syndrome

Bangungut

Brugada Type Idiopathic Ventricular Fibrillation

Pokkuri Death Syndrome

Sunds

Idiopathic Ventricular Fibrillation, Brugada Type

Sudden Unexplained Death

Dream Disease

Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome

Sudden Unexplained Death Syndrome

Suds

Sunds - [Sudden Unexplained Nocturnal Death Syndrome]

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Deafness, Autosomal Recessive 51

DFNB51

Autosomal Recessive Nonsyndromic Deafness 51

Autosomal Recessive Deafness 51

Cardiac Arrhythmia, Ankyrin-B-Related

Long Qt Syndrome 4

Ankyrin-B Syndrome

LQT4

Ankyrin-B-Related Cardiac Arrhythmia

Sick Sinus Syndrome With Bradycardia

Arrhythmia, Cardiac, Ankyrin B-Related

Hutchinson-Gilford Progeria Syndrome

Progeria

HGPS

Hutchinson-Gilford Syndrome

Hutchinson-Gilford Progeria

Hutchinson Gilford Syndrome

Hutchinson Gilford Progeria Syndrome

Hutchinson-Gilford Disease

Progeria Of Childhood

Hutchinson-Gilford-Progeria Syndrome

Non-Syndromic X-Linked Intellectual Disability 99

Mrx99

X-Linked Mental Retardation 99

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

Bipolar I Disorder

Manic Depression Nos

Manic-Depressive Illness

Bipolar Disorder Nos

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

Schizophrenia 19

SCZD19

Schizophrenia 19 With Or Without An Affective Disorder

Schizophrenia 19, Susceptibility To

{Schizophrenia 19, Susceptibility To}

Cyclothymic Disorder

Cyclothymia

Cycloid Personality

Cyclothymic Personality

Affective Personality Disorder

Cyclothymic Personality Disorder

Cycloid Personality Disorder

Mood Disorder

Mood Disorders

Episodic Mood Disorder

Cardiomyopathy, Dilated, 1e

Left Ventricular Noncompaction 9

Left Ventricular Noncompaction 5

Dilated Cardiomyopathy 1e

Dilated Cardiomyopathy 1s

CMD1E

Cdcd2

Cardiomyopathy, Dilated, 1y

CMD1Y

Cardiomyopathy, Dilated, 1s

CMD1S

Dilated Cardiomyopathy 1y

Dilated Cardiomyopathy With Conduction Defect 2

Dilated Cardiomyopathy With Conduction Disorder And Arrhythmia

Cardiomyopathy, Dilated, With Conduction Disorder And Arrhythmia

Cardiomyopathy, Dilated, With Conduction Defect 2

Cardiomyopathy Dilated With Conduction Defect Type 2

Cardiomyopathy, Dilated 1e

Cardiomyopathy, Dilated 1s

Cardiomyopathy, Dilated 1y

Left Ventricular Non-Compaction 5

LVNC5

Left Ventricular Non-Compaction 9

LVNC9

Cardiomyopathy, Dilated, Type 1e

Cardiomyopathy, Dilated, Type 1s

Cardiomyopathy, Dilated, Type 1y

Stereotypic Movement Disorder

Stereotypy Habit Disorder

Stereotyped Repetitive Movements

Stereotyped Disorder

Stereotypes Nos

Stereotype Habit Disorder

Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

Generalized Epilepsy With Febrile Seizures Plus

Gefs+

Genetic Epilepsy With Febrile Seizures Plus

Generalized Epilepsy With Febrile Seizures-Plus

Genetic Epilepsy With Febrile Seizures-Plus

Epilepsy, Generalized, With Febrile Seizures Plus

Hereditary Spherocytosis

Congenital Spherocytic Hemolytic Anemia

Spherocytic Anemia

Congenital Spherocytosis

Spherocytosis, Type 1

Minkowski Chauffard Syndrome

Hs

Minkowski-Chauffard Disease

Minkowski-Chauffard Syndrome

Spherocytosis Hereditary

Spherocytosis, Hereditary

Anemia, Hereditary Spherocytic Hemolytic

Psychotic Disorder

Psychotic Disorders

Mental Or Behavioural Disorder

Psychotic

Mental Disorders

Long Qt Syndrome

Romano-Ward Syndrome

Long Q-T Syndrome

Lqt

Qt Syndrome, Long

Congenital Long Qt Syndrome

Familial Long Qt Syndrome

Long Qt Syndrome 1

Romano-Ward Syndrome

LQT1

Ward-Romano Syndrome

Rws

Ventricular Fibrillation With Prolonged Qt Interval

Wrs

Long Qt Syndrome 1, Acquired, Susceptibility To

Long Qt Syndrome 1, Acquired

Romano-Ward Long Qt Syndrome

Long Qt Syndrome Type 1

Long Qt Syndrome-1

Acquired Susceptibility To Long Qt Syndrome 1

Qt Syndrome, Long, Type 1

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

West Syndrome

Infantile Spasms

Infantile Spasms Syndrome

Infantile Spasm

X-Linked Infantile Spasm Syndrome

X-Linked Infantile Spasms

Epileptic Encephalopathy, Early Infantile, 1

Is

Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg

West'S Syndrome

Spasms, Infantile

Is -[Infantile Spasm]

Salaam Spasm

Salaam Tic

Chromosome 22q11.2 Deletion Syndrome, Distal

22q11.2 Deletion Syndrome

Autosomal Dominant Opitz G/Bbb Syndrome

Catch22

Cayler Cardiofacial Syndrome

Conotruncal Anomaly Face Syndrome

Digeorge Syndrome

Sedlackova Syndrome

Shprintzen Syndrome

Velocardiofacial Syndrome

22q11.2 Distal Deletion Syndrome

Distal 22q11.2 Microdeletion Syndrome

22q11.2ds

Vcfs

Velo-Cardio-Facial Syndrome

Distal Chromosome 22q11.2 Deletion Syndrome

Chromosome 22q11.2 Deletion Syndrome Distal

Chromosome 22q11.2 Deletion Syndrome

Deletion 22q11.2 Syndrome

22q11ds

Catch 22

Digeorge Sequence

Microdeletion 22q11.2

Monosomy 22q11

Takao Syndrome

Distal Del(22)(Q11.2)

Distal Monosomy 22q11.2

Catch 22 Syndrome

Chromosome Deletion Syndrome 22q11.2, Distal

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression

Early Infantile Epileptic Encephalopathy With Suppression Bursts

Eiee

Early Infantile Epileptic Encephalopathy With Suppression-Bursts

Ohtahara Syndrome

Encephalopathy, Epileptic, Early Infantile

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
Canis familiaris ANK3 VGNC VGNC:37867
Macaca mulatta ANK3 VGNC VGNC:100293
Bos taurus ANK3 VGNC VGNC:55032
Rattus norvegicus ANK3 RGD RGD:620157
Mus musculus ANK3 MGD MGI:88026
Others ANK3 NCBI