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Aliases for ANKMY2 Gene

Aliases for ANKMY2 Gene

  • Ankyrin Repeat And MYND Domain Containing 2 2 3 5
  • ZMYND20 3

External Ids for ANKMY2 Gene

Previous GeneCards Identifiers for ANKMY2 Gene

  • GC07M016384
  • GC07M016412
  • GC07M016606
  • GC07M016639
  • GC07M016526

Summaries for ANKMY2 Gene

GeneCards Summary for ANKMY2 Gene

ANKMY2 (Ankyrin Repeat And MYND Domain Containing 2) is a Protein Coding gene. Diseases associated with ANKMY2 include acrofacial dysostosis 1, nager type and meckel syndrome 1.

UniProtKB/Swiss-Prot for ANKMY2 Gene

  • May be involved in the trafficking of signaling proteins to the cilia.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANKMY2 Gene

Genomics for ANKMY2 Gene

Regulatory Elements for ANKMY2 Gene

Enhancers for ANKMY2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ANKMY2 on UCSC Golden Path with GeneCards custom track

Promoters for ANKMY2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ANKMY2 on UCSC Golden Path with GeneCards custom track

Genomic Location for ANKMY2 Gene

Chromosome:
7
Start:
16,599,776 bp from pter
End:
16,645,817 bp from pter
Size:
46,042 bases
Orientation:
Minus strand

Genomic View for ANKMY2 Gene

Genes around ANKMY2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANKMY2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANKMY2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANKMY2 Gene

Proteins for ANKMY2 Gene

  • Protein details for ANKMY2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IV38-ANKY2_HUMAN
    Recommended name:
    Ankyrin repeat and MYND domain-containing protein 2
    Protein Accession:
    Q8IV38
    Secondary Accessions:
    • A4D124
    • Q659G1
    • Q96BL3

    Protein attributes for ANKMY2 Gene

    Size:
    441 amino acids
    Molecular mass:
    49299 Da
    Quaternary structure:
    • Interacts with the retinal-specific guanylyl cyclase GC1.

neXtProt entry for ANKMY2 Gene

Proteomics data for ANKMY2 Gene at MOPED

Post-translational modifications for ANKMY2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ANKMY2 Gene

No data available for DME Specific Peptides for ANKMY2 Gene

Domains & Families for ANKMY2 Gene

Protein Domains for ANKMY2 Gene

Suggested Antigen Peptide Sequences for ANKMY2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IV38

UniProtKB/Swiss-Prot:

ANKY2_HUMAN :
  • Contains 3 ANK repeats.
Similarity:
  • Contains 3 ANK repeats.
  • Contains 1 MYND-type zinc finger.
genes like me logo Genes that share domains with ANKMY2: view

Function for ANKMY2 Gene

Molecular function for ANKMY2 Gene

UniProtKB/Swiss-Prot Function:
May be involved in the trafficking of signaling proteins to the cilia.

Gene Ontology (GO) - Molecular Function for ANKMY2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21044950
genes like me logo Genes that share ontologies with ANKMY2: view
genes like me logo Genes that share phenotypes with ANKMY2: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ANKMY2 Gene

Localization for ANKMY2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ANKMY2 Gene

Cell projection, cilium.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ANKMY2 Gene COMPARTMENTS Subcellular localization image for ANKMY2 gene
Compartment Confidence
cytosol 4
cytoskeleton 3
extracellular 2
nucleus 2
mitochondrion 1

No data available for Gene Ontology (GO) - Cellular Components for ANKMY2 Gene

Pathways & Interactions for ANKMY2 Gene

SuperPathways for ANKMY2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ANKMY2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for ANKMY2 Gene

Drugs & Compounds for ANKMY2 Gene

No Compound Related Data Available

Transcripts for ANKMY2 Gene

Unigene Clusters for ANKMY2 Gene

Ankyrin repeat and MYND domain containing 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ANKMY2 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13
SP1: - - - -
SP2: - - - - -
SP3: - -
SP4:
SP5: -
SP6: -

Relevant External Links for ANKMY2 Gene

GeneLoc Exon Structure for
ANKMY2
ECgene alternative splicing isoforms for
ANKMY2

Expression for ANKMY2 Gene

mRNA expression in normal human tissues for ANKMY2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ANKMY2 Gene

This gene is overexpressed in Plasma (12.9), Fetal Brain (7.9), and Peripheral blood mononuclear cells (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ANKMY2 Gene



SOURCE GeneReport for Unigene cluster for ANKMY2 Gene Hs.157378

genes like me logo Genes that share expression patterns with ANKMY2: view

Protein tissue co-expression partners for ANKMY2 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ANKMY2 Gene

Orthologs for ANKMY2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ANKMY2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ANKMY2 35
  • 91.53 (n)
  • 93.42 (a)
ANKMY2 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ANKMY2 35
  • 92.52 (n)
  • 94.1 (a)
ANKMY2 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ankmy2 35
  • 84.92 (n)
  • 88.86 (a)
Ankmy2 16
Ankmy2 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ANKMY2 35
  • 99.55 (n)
  • 99.32 (a)
ANKMY2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ankmy2 35
  • 83.97 (n)
  • 87.79 (a)
oppossum
(Monodelphis domestica)
Mammalia ANKMY2 36
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ANKMY2 36
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves ANKMY2 35
  • 77.2 (n)
  • 82.59 (a)
ANKMY2 36
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ANKMY2 36
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ankmy2 35
  • 73.83 (n)
  • 75.5 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.26108 35
zebrafish
(Danio rerio)
Actinopterygii ankmy2a 35
  • 70.9 (n)
  • 76.72 (a)
wufi46e08 35
ankmy2a 36
  • 70 (a)
OneToMany
ankmy2b 36
  • 58 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004933 35
  • 49.71 (n)
  • 42.44 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG8003 35
  • 50.91 (n)
  • 42.35 (a)
CG8003 36
  • 37 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea daf-25 35
  • 46.67 (n)
  • 34.63 (a)
daf-25 36
  • 30 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 40 (a)
OneToOne
Species with no ortholog for ANKMY2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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 ANKMY2 Gene

ENSEMBL:
Gene Tree for ANKMY2 (if available)
TreeFam:
Gene Tree for ANKMY2 (if available)

Paralogs for ANKMY2 Gene

(3) SIMAP similar genes for ANKMY2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with ANKMY2: view

No data available for Paralogs for ANKMY2 Gene

Variants for ANKMY2 Gene

Sequence variations from dbSNP and Humsavar for ANKMY2 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs818325 -- 16,642,912(-) TGTAC(C/T)TAAAA intron-variant
rs818326 -- 16,642,353(+) TTTCA(A/G)TTTCC intron-variant
rs6949109 -- 16,643,393(+) TTTCT(C/T)ATATC intron-variant
rs6949300 -- 16,643,592(+) AATAA(A/C)TGCAC intron-variant
rs1044983 -- 16,600,675(-) TGTTA(C/T)ACCTG utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for ANKMY2 Gene

Variant ID Type Subtype PubMed ID
nsv830912 CNV Gain 17160897
nsv887758 CNV Gain 21882294
nsv522819 CNV Loss 19592680
nsv887759 CNV Gain 21882294
esv2734056 CNV Deletion 23290073
esv2174786 CNV Deletion 18987734
esv2657728 CNV Deletion 23128226

Variation tolerance for ANKMY2 Gene

Residual Variation Intolerance Score: 71.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.15; 61.54% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ANKMY2 Gene

HapMap Linkage Disequilibrium report
ANKMY2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANKMY2 Gene

Disorders for ANKMY2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ANKMY2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
acrofacial dysostosis 1, nager type
  • nager acrofacial dysostosis
meckel syndrome 1
  • meckel syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ANKMY2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ANKMY2
genes like me logo Genes that share disorders with ANKMY2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ANKMY2 Gene

Publications for ANKMY2 Gene

  1. Role of the ANKMY2-FKBP38 axis in regulation of the Sonic hedgehog (Shh) signaling pathway. (PMID: 25077969) Saita S. … Nakayama K.I. (J. Biol. Chem. 2014) 2 3 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  5. A quantitative chaperone interaction network reveals the architecture of cellular protein homeostasis pathways. (PMID: 25036637) Taipale M. … Lindquist S. (Cell 2014) 3

Products for ANKMY2 Gene

Sources for ANKMY2 Gene

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