ANK3 - ankyrin 3 Gene

Also Known as MRT37; ANKYRIN-G

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 288

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables protein binding	IPI IPI: Inferred from physical interaction	15231748	GOA
enables structural constituent of cytoskeleton	IMP IMP: Inferred from mutant phenotype	17620337	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in Golgi to plasma membrane protein transport	IMP IMP: Inferred from mutant phenotype	17620337	GOA
involved in establishment of protein localization	IMP IMP: Inferred from mutant phenotype	15611082	GOA
involved in maintenance of protein location in plasma membrane	IGI IGI: Inferred from genetic interaction	17620337	GOA
involved in membrane assembly	IMP IMP: Inferred from mutant phenotype	14757759	GOA
involved in mitotic cytokinesis	IMP IMP: Inferred from mutant phenotype	14757759	GOA
involved in plasma membrane organization	IMP IMP: Inferred from mutant phenotype	17620337	GOA
involved in protein localization to plasma membrane	IGI IGI: Inferred from genetic interaction	18180363	GOA
involved in protein localization to plasma membrane	IMP IMP: Inferred from mutant phenotype	14757759	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in axon initial segment	IDA IDA: Inferred from direct assay	27356871	GOA
located in basal plasma membrane	IDA IDA: Inferred from direct assay	21223964	GOA
located in basolateral plasma membrane	IDA IDA: Inferred from direct assay	15611082	GOA
colocalizes with bicellular tight junction	IDA IDA: Inferred from direct assay	14757759	GOA
located in lateral plasma membrane	IDA IDA: Inferred from direct assay	14757759	GOA
located in sarcolemma	IDA IDA: Inferred from direct assay	21223964	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ANK3 Protein Structure

Ank_2

Ank

Ank_2

Ank_4

Ank_2

Ank

ZU5

Death

0
700
1400
2100
2800
3500
4377 a.a.

Protein Preferred Names	Protein Names
ankyrin-3	ankyrin 3, node of Ranvier (ankyrin G)

ANK3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	ANK3	Q12955	SMAD2	Homo sapiens	Q15796	Display Tech	20195357

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS00701	ANK3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19574	Ank3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26071	Ank3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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