ANK3 ankyrin 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ANK3provided by HGNC
Official Full Name: ankyrin 3provided by HGNC
Primary source: HGNC:HGNC:494
See related: Ensembl:ENSG00000151150 MIM:600465; AllianceGenome:HGNC:494
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MRT37; ANKYRIN-G
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]
Expression: Broad expression in kidney (RPKM 10.0), brain (RPKM 9.0) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q21.2

Exon count:: 50

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (60026298..60733528, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (60881045..61590258, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (61786056..62493286, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants.
Title: The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants.
Effects of CACNA1C and ANK3 on cognitive function in patients with bipolar disorder.
Title: Effects of CACNA1C and ANK3 on cognitive function in patients with bipolar disorder.
ANK3 rs10994336 and ZNF804A rs7597593 polymorphisms: genetic interaction for emotional and behavioral symptoms of alcohol withdrawal syndrome.
Title: ANK3 rs10994336 and ZNF804A rs7597593 polymorphisms: genetic interaction for emotional and behavioral symptoms of alcohol withdrawal syndrome.
Dynamic interactions between E-cadherin and Ankyrin-G mediate epithelial cell polarity maintenance.
Title: Dynamic interactions between E-cadherin and Ankyrin-G mediate epithelial cell polarity maintenance.
Expression of ANK3 moderates the association between childhood trauma and affective traits in severe mental disorders.
Title: Expression of ANK3 moderates the association between childhood trauma and affective traits in severe mental disorders.
Mapping the expression of an ANK3 isoform associated with bipolar disorder in the human brain.
Title: Mapping the expression of an ANK3 isoform associated with bipolar disorder in the human brain.
ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants.
Title: ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants.
A linkage and exome study of multiplex families with bipolar disorder implicates rare coding variants of ANK3 and additional rare alleles at 10q11-q21.
Title: A linkage and exome study of multiplex families with bipolar disorder implicates rare coding variants of ANK3 and additional rare alleles at 10q11-q21.
Human ankyrins and their contribution to disease biology: An update.
Title: Human ankyrins and their contribution to disease biology: An update.
Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disorders.
Title: Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disorders.

Submit: New GeneRIF Correction See all GeneRIFs (86)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome MedGen: C3809672 OMIM: 615493 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome-wide association meta-analysis of plasma A&#x000ce;&#x000b2; peptides concentrations in the elderly. EBI GWAS Catalog EBI GWAS CatalogPubMed
Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. EBI GWAS Catalog EBI GWAS CatalogPubMed
Gene variants associated with schizophrenia in a Norwegian genome-wide study are replicated in a large European cohort. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies five new schizophrenia loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study meta-analysis of European and Asian-ancestry samples identifies three novel loci associated with bipolar disorder. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study reveals two new risk loci for bipolar disorder. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat upregulates the expression of ankyrin 3 (ANK3, ankyrin G) in human primary T cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-30886 (e-PCR)
- UniSTS:66562

ANK3_1373 (e-PCR)
- UniSTS:276995

ANK3_v442 (e-PCR)
- UniSTS:276995

RH15734 (e-PCR)
- UniSTS:46862

SHGC-12959 (e-PCR)
- UniSTS:10778

WI-15992 (e-PCR)
- UniSTS:77862

G32447 (e-PCR)
- UniSTS:117033

RH67964 (e-PCR)
- UniSTS:41002

G17407 (e-PCR)
- UniSTS:26448

SHGC-155440 (e-PCR)
- UniSTS:185199

G15868 (e-PCR)
- UniSTS:51313

G63028 (e-PCR)
- UniSTS:140153

SHGC-2729 (e-PCR)
- UniSTS:42873

RH36905 (e-PCR)
- UniSTS:87932

SHGC-105138 (e-PCR)
- UniSTS:182157

EST12B1 (e-PCR)
- UniSTS:263067

RH103881 (e-PCR)
- UniSTS:98206

RH15705 (e-PCR)
- UniSTS:64445

A009D23 (e-PCR)
- UniSTS:69059

SHGC-34120 (e-PCR)
- UniSTS:17862

RH64832 (e-PCR)
- UniSTS:5848

WI-11051 (e-PCR)
- UniSTS:25055

RH93542 (e-PCR)
- UniSTS:90872

ANK3 (e-PCR)
- UniSTS:509946

Ank3 (e-PCR), detects polymorphism
- UniSTS:509946

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cadherin binding	ISS Inferred from Sequence or Structural Similarity more info
enables cytoskeletal anchor activity	IBA Inferred from Biological aspect of Ancestor more info
enables cytoskeletal protein binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-macromolecule adaptor activity	ISS Inferred from Sequence or Structural Similarity more info
enables spectrin binding	IBA Inferred from Biological aspect of Ancestor more info
enables spectrin binding	ISS Inferred from Sequence or Structural Similarity more info
enables structural constituent of cytoskeleton	IMP Inferred from Mutant Phenotype more info	PubMed
enables transmembrane transporter binding	IBA Inferred from Biological aspect of Ancestor more info
enables transmembrane transporter binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in Golgi to plasma membrane protein transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in axonogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to magnesium ion	ISS Inferred from Sequence or Structural Similarity more info
involved_in cytoskeleton organization	IEA Inferred from Electronic Annotation more info
involved_in establishment of protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in magnesium ion homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in maintenance of protein location in plasma membrane	IGI Inferred from Genetic Interaction more info	PubMed
involved_in membrane assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in membrane assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in mitotic cytokinesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of delayed rectifier potassium channel activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuromuscular junction development	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuronal action potential	ISS Inferred from Sequence or Structural Similarity more info
involved_in plasma membrane organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cation channel activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cell communication by electrical coupling	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of homotypic cell-cell adhesion	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of membrane depolarization during cardiac muscle cell action potential	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of membrane potential	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of protein targeting to membrane	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of sodium ion transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of sodium ion transport	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in protein localization to axon	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein localization to plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization to plasma membrane	IGI Inferred from Genetic Interaction more info	PubMed
involved_in protein localization to plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of potassium ion transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in T-tubule	ISS Inferred from Sequence or Structural Similarity more info
located_in Z disc	ISS Inferred from Sequence or Structural Similarity more info
located_in axon initial segment	IDA Inferred from Direct Assay more info	PubMed
located_in axon initial segment	ISS Inferred from Sequence or Structural Similarity more info
located_in basal plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with bicellular tight junction	IDA Inferred from Direct Assay more info	PubMed
located_in cell surface	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in costamere	TAS Traceable Author Statement more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in dendrite	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum	TAS Traceable Author Statement more info	PubMed
located_in intercalated disc	ISS Inferred from Sequence or Structural Similarity more info
located_in lateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in lysosome	IEA Inferred from Electronic Annotation more info
located_in neuromuscular junction	ISS Inferred from Sequence or Structural Similarity more info
is_active_in neuron projection	IBA Inferred from Biological aspect of Ancestor more info
located_in neuron projection	ISS Inferred from Sequence or Structural Similarity more info
located_in node of Ranvier	ISS Inferred from Sequence or Structural Similarity more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in postsynaptic membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in sarcolemma	IDA Inferred from Direct Assay more info	PubMed
located_in sarcoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
located_in spectrin-associated cytoskeleton	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: ankyrin-3

Names: ankyrin 3, node of Ranvier (ankyrin G)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_029917.1 RefSeqGene

Range

348652..712229

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001149.4 → NP_001140.2 ankyrin-3 isoform 2

See identical proteins and their annotated locations for NP_001140.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) has multiple differences in the 5' UTR and coding sequence compared to variant 1, resulting in an isoform (2) which is considerably shorter and different compared to isoform 1.

Source sequence(s)

AC023904, AK092527, AL136710, AL592430, AW451432

Consensus CDS

CCDS7259.1

UniProtKB/TrEMBL

A8KA62

Related

ENSP00000347436.2, ENST00000355288.6

Conserved Domains (2) summary

smart00218
Location:116 → 220

ZU5; Domain present in ZO-1 and Unc5-like netrin receptors

cd08803
Location:609 → 692

Death_ank3; Death domain of Ankyrin-3
NM_001204403.2 → NP_001191332.1 ankyrin-3 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, initiates translation at an alternate start codon, and lacks an alternate in-frame exon compared to variant 1. The encoded protein (isoform 3) has a distinct N-terminus and is considerably shorter than isoform 1.

Source sequence(s)

AC022390, AC023904, AL359377, AW451432, BP245303, BX537917

Consensus CDS

CCDS55712.1

UniProtKB/Swiss-Prot

Q12955

Related

ENSP00000362933.2, ENST00000373827.6

Conserved Domains (7) summary

smart00218
Location:976 → 1080

ZU5; Domain present in ZO-1 and Unc5-like netrin receptors

cd08803
Location:1469 → 1552

Death_ank3; Death domain of Ankyrin-3

cd00204
Location:62 → 187

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

pfam12796
Location:72 → 158

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:625 → 678

Ank_4; Ankyrin repeats (many copies)

pfam13857
Location:743 → 797

Ank_5; Ankyrin repeats (many copies)

sd00045
Location:690 → 721

ANK; ANK repeat [structural motif]
NM_001204404.2 → NP_001191333.1 ankyrin-3 isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, initiates translation at an alternate start codon, and lacks an alternate in-frame exon compared to variant 1. The encoded protein (isoform 4) has a distinct N-terminus and is considerably shorter than isoform 1.

Source sequence(s)

AC023904, AK295661, AL359377, AL391707, AL592430, AW451432

Consensus CDS

CCDS55711.1

UniProtKB/Swiss-Prot

Q12955

Related

ENSP00000425236.1, ENST00000503366.6

Conserved Domains (7) summary

smart00218
Location:983 → 1087

ZU5; Domain present in ZO-1 and Unc5-like netrin receptors

cd08803
Location:1476 → 1559

Death_ank3; Death domain of Ankyrin-3

cd00204
Location:51 → 176

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

pfam12796
Location:61 → 147

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:614 → 667

Ank_4; Ankyrin repeats (many copies)

pfam13857
Location:732 → 786

Ank_5; Ankyrin repeats (many copies)

sd00045
Location:679 → 710

ANK; ANK repeat [structural motif]
NM_001320874.2 → NP_001307803.1 ankyrin-3 isoform 5

Status: REVIEWED

Description

Transcript Variant: This variant (5) contains one and lacks two alternate in-frame exons in its 3' coding region compared to variant 1. The encoded isoform (5) is shorter than isoform 1.

Source sequence(s)

AC023904, AL359377, AL592430, AW451432, BP202757, BP310397, DB237893

Related

ENSP00000423968.2, ENST00000467420.7

Conserved Domains (7) summary

smart00218
Location:982 → 1086

ZU5; Domain present in ZO-1 and Unc5-like netrin receptors

cd08803
Location:1475 → 1558

Death_ank3; Death domain of Ankyrin-3

cd00204
Location:68 → 193

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

pfam12796
Location:78 → 164

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:631 → 684

Ank_4; Ankyrin repeats (many copies)

pfam13857
Location:749 → 803

Ank_5; Ankyrin repeats (many copies)

sd00045
Location:696 → 727

ANK; ANK repeat [structural motif]
NM_020987.5 → NP_066267.2 ankyrin-3 isoform 1

See identical proteins and their annotated locations for NP_066267.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC023904, AL359377, AL592430, AW451432, BP202757, U13616

Consensus CDS

CCDS7258.1

UniProtKB/Swiss-Prot

B1AQT2, B4DIL1, E9PE32, Q12955, Q13484, Q5CZH9, Q5VXD5, Q7Z3G4, Q9H0P5

Related

ENSP00000280772.1, ENST00000280772.7

Conserved Domains (7) summary

smart00218
Location:982 → 1086

ZU5; Domain present in ZO-1 and Unc5-like netrin receptors

cd08803
Location:4088 → 4171

Death_ank3; Death domain of Ankyrin-3

cd00204
Location:68 → 193

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

pfam12796
Location:78 → 164

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:631 → 684

Ank_4; Ankyrin repeats (many copies)

pfam13857
Location:749 → 803

Ank_5; Ankyrin repeats (many copies)

sd00045
Location:696 → 727

ANK; ANK repeat [structural motif]