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 4
  • 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 Meckel Syndrome, Type 1.

UniProtKB/Swiss-Prot Summary for ANKMY2 Gene

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

Additional gene information for ANKMY2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ANKMY2 Gene

Genomics for ANKMY2 Gene

GeneHancer (GH) Regulatory Elements for ANKMY2 Gene

Promoters and enhancers for ANKMY2 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
GH07J016643 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 750.6 -0.9 -943 5.8 SP1 SREBF1 SIX5 RBPJ SMARCE1 POLR2A NR2F6 CREB1 MYC NFYC BZW2 ANKMY2 piR-55985-185
GH07J016666 Enhancer 1.3 Ensembl ENCODE dbSUPER 11.9 -23.5 -23470 5 ZBTB40 GATA3 ZBTB6 SMARCE1 POLR2A ZNF217 HLF L3MBTL2 DACH1 TEAD4 BZW2 MEOX2 ANKMY2 TSPAN13 AHR piR-55985-185 RF00017-6060
GH07J017132 Enhancer 0.8 Ensembl 19.6 -487.2 -487184 0.8 BCL6B SP7 PKNOX1 ZNF639 ZSCAN4 ZEB2 ZNF629 ZNF501 ZNF692 ATF7 ANKMY2 SNX13 AHR piR-31534-610 piR-47211-599 ENSG00000237773
GH07J016739 Enhancer 1.1 Ensembl ENCODE 10 -96.8 -96784 7.2 ZBTB40 ZBTB6 SMARCE1 CC2D1A L3MBTL2 DACH1 TEAD4 ZKSCAN8 GTF2F1 SP1 BZW2 AGR2 ANKMY2 TSPAN13 RF00017-6061 piR-56038-011
GH07J016620 Enhancer 0.9 Ensembl ENCODE dbSUPER 11.8 +25.5 25516 0.6 ZNF133 CREM ZBED1 IKZF2 PKNOX1 POLR2A FOS JUNB BATF ATF2 ANKMY2 BZW2 piR-45651-003 LOC105375169
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ANKMY2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ANKMY2 gene promoter:
  • AP-1
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1a
  • MRF-2
  • USF-1
  • USF-1:USF-2
  • USF1
  • USF2

Genomic Locations for ANKMY2 Gene

Genomic Locations for ANKMY2 Gene
chr7:16,599,776-16,645,817
(GRCh38/hg38)
Size:
46,042 bases
Orientation:
Minus strand
chr7:16,639,401-16,685,442
(GRCh37/hg19)
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

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

Gene Families for ANKMY2 Gene

Suggested Antigen Peptide Sequences for ANKMY2 Gene

GenScript: Design optimal peptide antigens:
  • Ankyrin repeat and MYND domain-containing protein 2 (ANKY2_HUMAN)
genes like me logo Genes that share domains with ANKMY2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ANKMY2 Gene

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.

Phenotypes From GWAS Catalog for ANKMY2 Gene

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

Clone 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 3
cytoskeleton 2
nucleus 2
extracellular 1
mitochondrion 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

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

PathCards logo

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

mRNA/cDNA for ANKMY2 Gene

CRISPR Products

Clone 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

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

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 33 32
  • 99.55 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ANKMY2 33 32
  • 92.52 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ANKMY2 33 32
  • 91.53 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ankmy2 17 33 32
  • 84.92 (n)
rat
(Rattus norvegicus)
Mammalia Ankmy2 32
  • 83.97 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ANKMY2 33
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ANKMY2 33
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves ANKMY2 33 32
  • 77.2 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ANKMY2 33
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ankmy2 32
  • 73.83 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.26108 32
zebrafish
(Danio rerio)
Actinopterygii ankmy2a 33 32
  • 70.9 (n)
OneToMany
ankmy2b 33
  • 58 (a)
OneToMany
wufi46e08 32
fruit fly
(Drosophila melanogaster)
Insecta CG8003 33 32
  • 50.91 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004933 32
  • 49.71 (n)
worm
(Caenorhabditis elegans)
Secernentea daf-25 33 32
  • 46.67 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ANKMY2: view image

Paralogs for ANKMY2 Gene

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

  • ANKY2_HUMAN
  • F8WB95_HUMAN
  • G3V0G5_HUMAN
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 Variation AA Info Type
rs944599231 uncertain-significance, Severe Myopia 16,627,108(-) T/A coding_sequence_variant, missense_variant
rs1000026781 -- 16,644,385(-) A/C intron_variant
rs1000084607 -- 16,601,783(-) C/A intron_variant
rs1000105163 -- 16,621,583(-) T/C intron_variant
rs1000136470 -- 16,612,750(-) T/C 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)

Additional Variant Information 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

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

Disorder Aliases PubMed IDs
meckel syndrome, type 1
  • mks1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for 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 KI (The Journal of biological chemistry 2014) 2 3 56
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56
  3. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer SW … Tsui LC (Science (New York, N.Y.) 2003) 3 4 56
  4. An AP-MS- and BioID-compatible MAC-tag enables comprehensive mapping of protein interactions and subcellular localizations. (PMID: 29568061) Liu X … Varjosalo M (Nature communications 2018) 3 56
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 56

Products for ANKMY2 Gene

Sources for ANKMY2 Gene