Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ANK3 Gene

Aliases for ANK3 Gene

  • Ankyrin 3 2 3 5
  • Ankyrin 3, Node Of Ranvier (Ankyrin G) 2 3
  • Ankyrin-G 2 4
  • Ankyrin-3, Node Of Ranvier 2
  • ANKYRIN-G 3
  • Ankyrin-3 3
  • MRT37 3
  • ANK-3 4

External Ids for ANK3 Gene

Previous GeneCards Identifiers for ANK3 Gene

  • GC10M060584
  • GC10M060813
  • GC10M061680
  • GC10M061132
  • GC10M061458
  • GC10M061788
  • GC10M055775

Summaries for ANK3 Gene

Entrez Gene Summary for ANK3 Gene

  • 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]

GeneCards Summary for ANK3 Gene

ANK3 (Ankyrin 3) is a Protein Coding gene. Diseases associated with ANK3 include Mental Retardation, Autosomal Recessive 37 and Neuroma. Among its related pathways are Transport to the Golgi and subsequent modification and Developmental Biology. Gene Ontology (GO) annotations related to this gene include structural constituent of cytoskeleton and protein binding, bridging. An important paralog of this gene is ANK2.

UniProtKB/Swiss-Prot for ANK3 Gene

  • In skeletal muscle, required for costamere localization of DMD and betaDAG1 (By similarity). Membrane-cytoskeleton linker. May participate in the maintenance/targeting of ion channels and cell adhesion molecules at the nodes of Ranvier and axonal initial segments. Regulates KCNA1 channel activity in function of dietary Mg(2+) levels, and thereby contributes to the regulation of renal Mg(2+) reabsorption (PubMed:23903368).

  • Isoform 5: May be part of a Golgi-specific membrane cytoskeleton in association with beta-spectrin.

Gene Wiki entry for ANK3 Gene

Additional gene information for ANK3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANK3 Gene

Genomics for ANK3 Gene

GeneHancer (GH) Regulatory Elements for ANK3 Gene

Promoters and enhancers for ANK3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J060731 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 675.2 +0.9 914 2.9 RB1 SIN3A KLF14 BATF ZNF2 ZEB1 ZNF335 GLIS2 RUNX3 SMARCA5 ANK3 CDK1 LOC105378320
GH10J060136 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 655.3 +593.7 593675 6.8 PKNOX1 ATF1 FOXA2 NEUROD1 SIN3A YY1 ARID2 FOS ATF7 SP3 ANK3 ENSG00000282121 GC10P060129
GH10J060389 Promoter/Enhancer 0.9 EPDnew dbSUPER 650.1 +343.7 343689 0.1 POLR2A PRDM10 EZH2 ANK3 GC10M060434 GC10P060264
GH10J060735 Enhancer 0.5 ENCODE dbSUPER 650.7 -1.9 -1892 0.2 REST ANK3 LOC105378320 CDK1
GH10J060734 Enhancer 0.2 dbSUPER 650.7 -1.3 -1286 0.4 ANK3 LOC105378320 CDK1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ANK3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ANK3 gene promoter:
  • AREB6
  • C/EBPalpha
  • STAT3
  • SRY
  • CUTL1
  • C/EBPbeta
  • RORalpha2
  • FOXC1
  • Sox9

Genomic Locations for ANK3 Gene

Genomic Locations for ANK3 Gene
chr10:60,026,298-60,733,526
(GRCh38/hg38)
Size:
707,229 bases
Orientation:
Minus strand
chr10:61,786,056-62,493,284
(GRCh37/hg19)
Size:
707,229 bases
Orientation:
Minus strand

Genomic View for ANK3 Gene

Genes around ANK3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANK3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANK3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANK3 Gene

Proteins for ANK3 Gene

  • Protein details for ANK3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q12955-ANK3_HUMAN
    Recommended name:
    Ankyrin-3
    Protein Accession:
    Q12955
    Secondary Accessions:
    • B1AQT2
    • B4DIL1
    • E9PE32
    • Q13484
    • Q5CZH9
    • Q5VXD5
    • Q7Z3G4
    • Q9H0P5

    Protein attributes for ANK3 Gene

    Size:
    4377 amino acids
    Molecular mass:
    480410 Da
    Quaternary structure:
    • Directly interacts with DMD and betaDAG1. This interaction does not interfere with binding between DMD and betaDAG1. It is also required for DMD and betaDAG1 retention at costameres (By similarity). Interacts (via N-terminal ANK repeats) with SCHIP1 isoform 5 (via C-terminus); this interaction is required for the localization at axon initial segments (AISs) and nodes of Ranvier (NRs) (By similarity). May be a constituent of a NFASC/NRCAM/ankyrin G complex. Interacts with RHBG (PubMed:15611082). Interacts with PLEC and FLNC (PubMed:21223964). Interacts with KCNA1; this inhibits channel activity (PubMed:23903368). Interacts (via ANK repeats) with IQCJ-SCHIP1; required for IQCJ-SCHIP1 localization at axon initial segments (AIS) and nodes of Ranvier (PubMed:25950943). Interacts with SCHIP1 (PubMed:25950943).

    Three dimensional structures from OCA and Proteopedia for ANK3 Gene

    Alternative splice isoforms for ANK3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ANK3 Gene

Post-translational modifications for ANK3 Gene

  • Ubiquitination at Lys4338
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ANK3 Gene

Domains & Families for ANK3 Gene

Gene Families for ANK3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

Q12955

UniProtKB/Swiss-Prot:

ANK3_HUMAN :
  • The tandem configuration of the two ZU5 and the UPA domains forms a structural supramodule termed ZZU. ZU5-1 mediates interaction with beta-spectrin, and the ZU5-1/UPA interface is required for ankyrins function other than binding to spectrin (By similarity).
Domain:
  • The tandem configuration of the two ZU5 and the UPA domains forms a structural supramodule termed ZZU. ZU5-1 mediates interaction with beta-spectrin, and the ZU5-1/UPA interface is required for ankyrins function other than binding to spectrin (By similarity).
genes like me logo Genes that share domains with ANK3: view

Function for ANK3 Gene

Molecular function for ANK3 Gene

UniProtKB/Swiss-Prot Function:
In skeletal muscle, required for costamere localization of DMD and betaDAG1 (By similarity). Membrane-cytoskeleton linker. May participate in the maintenance/targeting of ion channels and cell adhesion molecules at the nodes of Ranvier and axonal initial segments. Regulates KCNA1 channel activity in function of dietary Mg(2+) levels, and thereby contributes to the regulation of renal Mg(2+) reabsorption (PubMed:23903368).
UniProtKB/Swiss-Prot Function:
Isoform 5: May be part of a Golgi-specific membrane cytoskeleton in association with beta-spectrin.
GENATLAS Biochemistry:
ankyrin 3,non erythrocytic,intermediate filament associated protein (IFAP,type III),expressed in the axonal initial segment and Ranvier nodes in the central and peripheral nervous system

Phenotypes From GWAS Catalog for ANK3 Gene

Gene Ontology (GO) - Molecular Function for ANK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005200 structural constituent of cytoskeleton IMP 17620337
GO:0005515 protein binding IPI,IEA 15231748
GO:0008092 cytoskeletal protein binding ISS 21223964
GO:0030507 spectrin binding ISS,IBA --
GO:0030674 protein binding, bridging ISS --
genes like me logo Genes that share ontologies with ANK3: view
genes like me logo Genes that share phenotypes with ANK3: view

Human Phenotype Ontology for ANK3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ANK3 Gene

MGI Knock Outs for ANK3:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ANK3 Gene

Localization for ANK3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ANK3 Gene

Cytoplasm, cytoskeleton. Cell projection, axon. Cell membrane, sarcolemma. Cell junction, synapse, postsynaptic cell membrane. Lysosome. Note=In skeletal muscle, localized at costameres and neuromuscular junctions. In macrophages, associated with lysosomes. {ECO:0000250}.
Isoform 5: Cytoplasm, cytoskeleton. Golgi apparatus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ANK3 gene
Compartment Confidence
plasma membrane 5
cytosol 5
cytoskeleton 4
endoplasmic reticulum 4
golgi apparatus 4
nucleus 3
lysosome 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ANK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005764 lysosome IEA --
GO:0005783 endoplasmic reticulum TAS 8666667
GO:0005794 Golgi apparatus TAS,IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with ANK3: view

Pathways & Interactions for ANK3 Gene

genes like me logo Genes that share pathways with ANK3: view

Gene Ontology (GO) - Biological Process for ANK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000281 mitotic cytokinesis IMP 14757759
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0007009 plasma membrane organization IMP 17620337
GO:0007016 cytoskeletal anchoring at plasma membrane TAS 7836469
GO:0007165 signal transduction IEA --
genes like me logo Genes that share ontologies with ANK3: view

No data available for SIGNOR curated interactions for ANK3 Gene

Drugs & Compounds for ANK3 Gene

(1) Drugs for ANK3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for ANK3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ANK3: view

Transcripts for ANK3 Gene

Unigene Clusters for ANK3 Gene

Ankyrin 3, node of Ranvier (ankyrin G):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ANK3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23 ^
SP1: - - - - - -
SP2: - - - -
SP3: - -
SP4:
SP5:
SP6:
SP7: - - -
SP8:
SP9:
SP10: -
SP11:
SP12:
SP13:

ExUns: 24a · 24b ^ 25 ^ 26 ^ 27a · 27b ^ 28 ^ 29 ^ 30 ^ 31a · 31b ^ 32 ^ 33 ^ 34a · 34b ^ 35 ^ 36a · 36b ^ 37 ^ 38a · 38b · 38c ^ 39 ^ 40a · 40b · 40c ^
SP1: - -
SP2: - - - -
SP3: -
SP4: - -
SP5:
SP6:
SP7:
SP8:
SP9: - - -
SP10:
SP11:
SP12:
SP13:

ExUns: 41 ^ 42a · 42b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for ANK3 Gene

GeneLoc Exon Structure for
ANK3
ECgene alternative splicing isoforms for
ANK3

Expression for ANK3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ANK3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ANK3 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x6.6) and Brain - Cerebellum (x5.3).

Protein differential expression in normal tissues from HIPED for ANK3 Gene

This gene is overexpressed in Brain (20.5), Frontal cortex (10.2), Salivary gland (9.8), and Nasal epithelium (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ANK3 Gene



Protein tissue co-expression partners for ANK3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ANK3 Gene:

ANK3

SOURCE GeneReport for Unigene cluster for ANK3 Gene:

Hs.499725

mRNA Expression by UniProt/SwissProt for ANK3 Gene:

Q12955-ANK3_HUMAN
Tissue specificity: Expressed in brain, neurons, muscles and other tissues.

Evidence on tissue expression from TISSUES for ANK3 Gene

  • Nervous system(4.9)
  • Kidney(4.5)
  • Liver(4.3)
  • Heart(2.9)
  • Eye(2.8)
  • Muscle(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ANK3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • ear
  • head
  • mouth
  • pharynx
Thorax:
  • heart
General:
  • blood vessel
  • spinal cord
genes like me logo Genes that share expression patterns with ANK3: view

Orthologs for ANK3 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ANK3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ANK3 34 33
  • 99.65 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ANK3 34
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ANK3 34 33
  • 92.48 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ank3 16 34 33
  • 86.27 (n)
oppossum
(Monodelphis domestica)
Mammalia ANK3 34
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ank3 33
  • 85.77 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 14 (a)
ManyToMany
chicken
(Gallus gallus)
Aves ANK3 33
  • 80.36 (n)
CHANK3 34
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ANK3 34
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ank3 33
  • 71.94 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.12223 33
zebrafish
(Danio rerio)
Actinopterygii ank3b 34 33
  • 65.93 (n)
OneToMany
ank3a 34
  • 63 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009937 33
  • 57.91 (n)
fruit fly
(Drosophila melanogaster)
Insecta Ank 34 33
  • 57.26 (n)
ManyToMany
mask 35
  • 34 (a)
Ank2 34
  • 12 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea unc-44 34
  • 20 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SPT23 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 59 (a)
OneToMany
Species where no ortholog for ANK3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ANK3 Gene

ENSEMBL:
Gene Tree for ANK3 (if available)
TreeFam:
Gene Tree for ANK3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ANK3: view image

Paralogs for ANK3 Gene

Paralogs for ANK3 Gene

(29) SIMAP similar genes for ANK3 Gene using alignment to 13 proteins:

  • ANK3_HUMAN
  • A8KA62_HUMAN
  • B1AQT1_HUMAN
  • D6RBY7_HUMAN
  • D6RF31_HUMAN
  • D6RFK6_HUMAN
  • D6RHY3_HUMAN
  • H0Y3A4_HUMAN
  • H0Y8Z4_HUMAN
  • H0Y951_HUMAN
  • H0Y9E9_HUMAN
  • H0YA66_HUMAN
  • H0YAH5_HUMAN
genes like me logo Genes that share paralogs with ANK3: view

Variants for ANK3 Gene

Sequence variations from dbSNP and Humsavar for ANK3 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1060499742 likely-pathogenic, Abnormality of brain morphology 60,071,229(-) G/A coding_sequence_variant, intron_variant, missense_variant
rs114937210 likely-benign, not specified, not provided 60,278,806(-) T/C coding_sequence_variant, genic_upstream_transcript_variant, missense_variant
rs140463162 likely-benign, not specified, not provided 60,073,926(-) C/T coding_sequence_variant, intron_variant, missense_variant
rs34796699 benign, conflicting-interpretations-of-pathogenicity, not specified 60,196,629(-) AAAAAAAAAAAA/AAAAAAAAAA/AAAAAAAAAAA/AAAAAAAAAAAAA/AAAAAAAAAAAAAA/AAAAAAAAAAAAAAA/AAAAAAAAAAAAAAAA genic_upstream_transcript_variant, intron_variant
rs375050420 uncertain-significance, Autistic disorder of childhood onset 60,076,176(-) A/C coding_sequence_variant, intron_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for ANK3 Gene

Variant ID Type Subtype PubMed ID
nsv948032 CNV duplication 23825009
nsv948031 CNV duplication 23825009
nsv8679 CNV loss 18304495
nsv825406 CNV loss 20364138
nsv551177 CNV loss 21841781
nsv551176 CNV loss 21841781
nsv528497 CNV loss 19592680
nsv527065 CNV loss 19592680
nsv525521 CNV loss 19592680
nsv471796 CNV loss 16327809
nsv1161967 CNV duplication 26073780
nsv1142094 CNV tandem duplication 24896259
nsv1134018 CNV deletion 24896259
nsv1134017 CNV deletion 24896259
nsv1122531 CNV deletion 24896259
nsv1113303 CNV deletion 24896259
esv3623473 CNV loss 21293372
esv3623472 CNV gain 21293372
esv3623470 CNV loss 21293372
esv3623467 CNV loss 21293372
esv3623466 CNV gain 21293372
esv3578935 CNV loss 25503493
esv3431053 CNV insertion 20981092
esv3411444 CNV insertion 20981092
esv3397031 CNV insertion 20981092
esv3355948 CNV insertion 20981092
esv3335023 CNV duplication 20981092
esv3309604 CNV mobile element insertion 20981092
esv3304676 CNV mobile element insertion 20981092
esv3304056 CNV mobile element insertion 20981092
esv275322 CNV loss 21479260
esv2662232 CNV deletion 23128226
esv2660339 CNV deletion 23128226
esv25700 CNV loss 19812545
esv1506468 CNV insertion 17803354
esv1484659 CNV insertion 17803354
esv1037467 CNV insertion 17803354
esv1003254 CNV deletion 20482838
dgv463n106 CNV insertion 24896259

Variation tolerance for ANK3 Gene

Residual Variation Intolerance Score: 0.0723% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.18; 90.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ANK3 Gene

Human Gene Mutation Database (HGMD)
ANK3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANK3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANK3 Gene

Disorders for ANK3 Gene

MalaCards: The human disease database

(9) MalaCards diseases for ANK3 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, autosomal recessive 37
  • mrt37
neuroma
plexiform neurofibroma
  • neurofibroma plexiform
hutchinson-gilford progeria syndrome
  • hgps
sleep disorder
  • non-organic sleep disorder
- elite association - COSMIC cancer census association via MalaCards
Search ANK3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ANK3_HUMAN
  • Note=Genetic variations in ANK3 may be associated with autism spectrum disorders susceptibility. {ECO:0000269 PubMed:22865819}.
  • Mental retardation, autosomal recessive 37 (MRT37) [MIM:615493]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT37 patients manifest delayed global development with speech delay, hypotonia, spasticity, and a sleep disorder. Severe behavioral abnormalities include aggression, hyperactivity, and grinding of the teeth. Note=The disease is caused by mutations affecting the gene represented in this entry. A homozygous deletion in ANK3 predicted to result in frameshift and premature truncation, has been shown to be the cause of moderate intellectual disability, an ADHD-like phenotype and behavioral problems in a consanguineous family (PubMed:23390136). {ECO:0000269 PubMed:23390136}.

Additional Disease Information for ANK3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ANK3: view

No data available for Genatlas for ANK3 Gene

Publications for ANK3 Gene

  1. Two variants in Ankyrin 3 (ANK3) are independent genetic risk factors for bipolar disorder. (PMID: 19088739) Schulze TG … McMahon FJ (Molecular psychiatry 2009) 3 22 44 58
  2. Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. (PMID: 18711365) Ferreira MA … Wellcome Trust Case Control Consortium (Nature genetics 2008) 3 22 44 58
  3. Crystal structure of human Ankyrin G death domain. (PMID: 25307106) Liu Y … Wang JH (Proteins 2014) 3 4 58
  4. Genome-wide association study meta-analysis of European and Asian-ancestry samples identifies three novel loci associated with bipolar disorder. (PMID: 22182935) Chen DT … Strauss J (Molecular psychiatry 2013) 3 44 58
  5. Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders. (PMID: 23390136) Iqbal Z … Rooms L (Human molecular genetics 2013) 3 4 58

Products for ANK3 Gene

Sources for ANK3 Gene

Content
Loading form....