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ANKMY2 Gene(Protein Coding)

Ankyrin Repeat And MYND Domain Containing 2

GCID:
GC07M016599
GIFtS:
46
Genes Participants
UDN Logo

Aliases for ANKMY2 Gene

Aliases for ANKMY2 Gene

  • Ankyrin Repeat And MYND Domain Containing 2 2 3 5
  • Ankyrin Repeat And MYND Domain-Containing Protein 2 3
  • 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 , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANKMY2 Gene

Genomics for ANKMY2 Gene

Products:

  1. Regulatory Element

Regulatory Elements for ANKMY2 Gene

Enhancers for ANKMY2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G016666 1.5 Ensembl ENCODE dbSUPER 11.9 -23.1 -23061 4.2 ARNT SIN3A ZNF766 FOS KLF13 DEK ZHX2 ZNF592 ZNF579 MEF2D BZW2 ANKMY2 TSPAN13 ENSG00000235837
GH07G016620 1.1 ENCODE dbSUPER 11.8 +25.5 25507 0.2 HDAC1 LEF1 PKNOX1 NFRKB ETV1 ZNF133 ZNF644 ARID3A CBX5 FOS BZW2 ANKMY2 LOC105375169
GH07G016739 1.3 Ensembl ENCODE 9.6 -94.8 -94773 2.1 HDGF PKNOX1 ATF1 CREB3L1 ARNT E2F7 FEZF1 TCF12 ZNF766 CBX5 AGR2 BZW2 ANKMY2 GC07M016725 TSPAN13
GH07G016563 0.8 Ensembl ENCODE 10.5 +82.2 82174 0.9 IRF2 RFX1 NR2F6 BMI1 IRF1 PRDM1 BZW2 ANKMY2 GC07P016564 SOSTDC1
GH07G016660 1.5 Ensembl ENCODE dbSUPER 5.3 -15.7 -15717 2.9 FOXA2 ATF1 DMAP1 FOS KLF13 JUNB REST ZNF592 MEF2D CREB3 BZW2 ANKMY2 ENSG00000235837
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000208810 -83 3001 PKNOX1 ARNT AGO1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1

Transcription factor binding sites by QIAGEN in the ANKMY2 gene promoter:

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 Structure • Gene Density

RefSeq DNA sequence for ANKMY2 Gene

Proteins for ANKMY2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for ANKMY2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ANKMY2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ANKMY2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ANKMY2 Gene

Domains & Families for ANKMY2 Gene

Gene Families for ANKMY2 Gene

HGNC:

Protein Domains for ANKMY2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ANKMY2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

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

Function for ANKMY2 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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
GO:0019899 enzyme binding IEA --
GO:0046872 metal ion binding IEA --
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

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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
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 ANKMY2 gene
Compartment Confidence
cytosol 4
cytoskeleton 3
extracellular 2
nucleus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ANKMY2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005929 cilium IEA --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with ANKMY2: view

Pathways & Interactions for ANKMY2 Gene

SuperPathways for ANKMY2 Gene

PathCards logo More details on SuperPathways for ANKMY2
No Data Available

Gene Ontology (GO) - Biological Process for ANKMY2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008589 regulation of smoothened signaling pathway IBA --
genes like me logo Genes that share ontologies with ANKMY2: view

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

Drugs & Compounds for ANKMY2 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for ANKMY2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for ANKMY2 Gene

(2) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(146) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ANKMY2 Gene

Ankyrin repeat and MYND domain containing 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ANKMY2 Gene

mRNA expression in normal human tissues for ANKMY2 Gene
mRNA expression by BioGPS for ANKMY2 GenemRNA expression by GTEx 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



Protein tissue co-expression partners for ANKMY2 Gene

NURSA nuclear receptor signaling pathways regulating expression of ANKMY2 Gene:

ANKMY2

SOURCE GeneReport for Unigene cluster for ANKMY2 Gene:

Hs.157378

Evidence on tissue expression from TISSUES for ANKMY2 Gene

  • Nervous system(4.7)
  • Intestine(4.2)
genes like me logo Genes that share expression patterns with ANKMY2: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
 Mammalia ANKMY2 34 35
  • 99.55 (n)
dog
(Canis familiaris)
 Mammalia ANKMY2 34 35
  • 92.52 (n)
cow
(Bos Taurus)
 Mammalia ANKMY2 34 35
  • 91.53 (n)
mouse
(Mus musculus)
 Mammalia Ankmy2 34 16 35
  • 84.92 (n)
rat
(Rattus norvegicus)
 Mammalia Ankmy2 34
  • 83.97 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia ANKMY2 35
  • 78 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia ANKMY2 35
  • 66 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves ANKMY2 34 35
  • 77.2 (n)
lizard
(Anolis carolinensis)
 Reptilia ANKMY2 35
  • 72 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia ankmy2 34
  • 73.83 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.26108 34
zebrafish
(Danio rerio)
 Actinopterygii ankmy2a 34 35
  • 70.9 (n)
ankmy2b 35
  • 58 (a)
 OneToMany
wufi46e08 34
fruit fly
(Drosophila melanogaster)
 Insecta CG8003 34 35
  • 50.91 (n)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP004933 34
  • 49.71 (n)
worm
(Caenorhabditis elegans)
 Secernentea daf-25 34 35
  • 46.67 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 40 (a)
 OneToOne
Species where no ortholog for ANKMY2 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)
  • 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
rs1000026781 -- 16,644,385(+) TCATC(A/C)GCACC intron-variant, upstream-variant-2KB
rs1000084607 -- 16,601,783(+) CCAAT(A/C)TGATA intron-variant
rs1000105163 -- 16,621,583(+) AAGGA(C/T)ATTTA intron-variant
rs1000136470 -- 16,612,750(+) GCTTA(C/T)TGAAA intron-variant
rs1000144388 -- 16,621,280(+) GAACC(A/C)ATTAA intron-variant

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

Variant ID Type Subtype PubMed ID
dgv6289n100 CNV gain 25217958
esv2174786 CNV deletion 18987734
esv2657728 CNV deletion 23128226
esv2734056 CNV deletion 23290073
esv3612402 CNV loss 21293372
nsv1028125 CNV gain 25217958
nsv1142662 CNV deletion 24896259
nsv522819 CNV loss 19592680
nsv830912 CNV gain 17160897

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 and GeneCards

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 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  3. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer S.W. … Tsui L.-C. (Science 2003) 3 4 64
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3 64

Products for ANKMY2 Gene

Sources for ANKMY2 Gene

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