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Aliases for ANKRD33 Gene

Aliases for ANKRD33 Gene

  • Ankyrin Repeat Domain 33 2 3 5
  • Ankyrin Repeat Domain-Containing Protein 33 3 4
  • C12orf7 3 4
  • PANKY 3 4
  • Photoreceptor Ankyrin Repeat Protein 3
  • Chromosome 12 Open Reading Frame 7 2

External Ids for ANKRD33 Gene

Previous HGNC Symbols for ANKRD33 Gene

  • C12orf7

Previous GeneCards Identifiers for ANKRD33 Gene

  • GC12P050569
  • GC12P052281
  • GC12P049316

Summaries for ANKRD33 Gene

GeneCards Summary for ANKRD33 Gene

ANKRD33 (Ankyrin Repeat Domain 33) is a Protein Coding gene. An important paralog of this gene is ANKRD33B.

UniProtKB/Swiss-Prot for ANKRD33 Gene

  • Acts as a transcriptional repressor for CRX-activated photoreceptor gene regulation.

Additional gene information for ANKRD33 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANKRD33 Gene

Genomics for ANKRD33 Gene

GeneHancer (GH) Regulatory Elements for ANKRD33 Gene

Promoters and enhancers for ANKRD33 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
GH12J051884 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 650.7 -1.7 -1744 4.4 PKNOX1 FOXA2 ARNT ARID4B YY1 ZNF766 E2F8 FOS SP3 REST ANKRD33 HNRNPA3P10 TFCP2 NR4A1 KRT78 FIGNL2 GC12P051832 GC12P051835 GC12P051836 GC12P051837
GH12J051855 Enhancer 1.1 FANTOM5 Ensembl ENCODE 21.2 -31.9 -31861 1.3 SOX13 CEBPB SIN3A REST TEAD3 SP1 POLR2A ZFP36 PRDM10 KDM1A ANKRD33 SLC4A8 NR4A1 GRASP GALNT6 FIGNL2 GC12P051832 GC12P051835 GC12P051836 GC12P051837
GH12J051969 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11.4 +84.6 84633 5.2 PKNOX1 FOXA2 ARNT ZNF2 IRF4 YY1 ZNF766 E2F8 ZNF143 FOS NR4A1 HNRNPA3P10 GRASP ATG101 ACVR1B ACVRL1 ANKRD33 SMAGP GC12P051989
GH12J051975 Enhancer 1.3 Ensembl ENCODE dbSUPER 12 +89.1 89089 2.5 ATF1 FOXA2 ARID4B YY1 ATF7 NFKBIZ RXRA REST NFIL3 SMARCA4 ACVR1B GRASP NR4A1 ACVRL1 ANKRD33 ENSG00000260473 GC12P051989
GH12J052003 Enhancer 1.2 Ensembl ENCODE dbSUPER 10.7 +116.3 116330 1 CTCF IRF2 RB1 ARID4B ZNF195 ZNF48 RAD21 CC2D1A GLIS2 ARID2 ANKRD33 GRASP GC12M051995
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ANKRD33 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ANKRD33 gene promoter:

Genomic Locations for ANKRD33 Gene

Genomic Locations for ANKRD33 Gene
chr12:51,887,960-51,891,721
(GRCh38/hg38)
Size:
3,762 bases
Orientation:
Plus strand
chr12:52,281,744-52,285,505
(GRCh37/hg19)

Genomic View for ANKRD33 Gene

Genes around ANKRD33 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANKRD33 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANKRD33 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANKRD33 Gene

Proteins for ANKRD33 Gene

  • Protein details for ANKRD33 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z3H0-PANKY_HUMAN
    Recommended name:
    Photoreceptor ankyrin repeat protein
    Protein Accession:
    Q7Z3H0
    Secondary Accessions:
    • Q0VAA7
    • Q5K619
    • Q5K621
    • Q5K622
    • Q5K623
    • Q5K624
    • Q6ZUN0

    Protein attributes for ANKRD33 Gene

    Size:
    452 amino acids
    Molecular mass:
    49403 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAQ07991.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAQ07992.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for ANKRD33 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ANKRD33 Gene

Post-translational modifications for ANKRD33 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ANKRD33 Gene

No data available for DME Specific Peptides for ANKRD33 Gene

Domains & Families for ANKRD33 Gene

Gene Families for ANKRD33 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ANKRD33 Gene

Suggested Antigen Peptide Sequences for ANKRD33 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ANKRD33: view

No data available for UniProtKB/Swiss-Prot for ANKRD33 Gene

Function for ANKRD33 Gene

Molecular function for ANKRD33 Gene

UniProtKB/Swiss-Prot Function:
Acts as a transcriptional repressor for CRX-activated photoreceptor gene regulation.

Phenotypes From GWAS Catalog for ANKRD33 Gene

Gene Ontology (GO) - Molecular Function for ANKRD33 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with ANKRD33: view
genes like me logo Genes that share phenotypes with ANKRD33: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ANKRD33 Gene

Localization for ANKRD33 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ANKRD33 Gene

Cytoplasm, cytosol. Nucleus.

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 ANKRD33 gene
Compartment Confidence
nucleus 4
cytosol 4
plasma membrane 1
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ANKRD33 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with ANKRD33: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ANKRD33 Gene

Pathways & Interactions for ANKRD33 Gene

SuperPathways for ANKRD33 Gene

No Data Available

Interacting Proteins for ANKRD33 Gene

Gene Ontology (GO) - Biological Process for ANKRD33 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IBA --
GO:0035914 skeletal muscle cell differentiation IEA --
GO:2000678 negative regulation of transcription regulatory region DNA binding IBA --
genes like me logo Genes that share ontologies with ANKRD33: view

No data available for Pathways by source and SIGNOR curated interactions for ANKRD33 Gene

Drugs & Compounds for ANKRD33 Gene

No Compound Related Data Available

Transcripts for ANKRD33 Gene

Unigene Clusters for ANKRD33 Gene

Ankyrin repeat domain 33:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ANKRD33 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b
SP1: - - -
SP2: - -
SP3: - - - -
SP4: - - - - -
SP5:
SP6:

Relevant External Links for ANKRD33 Gene

GeneLoc Exon Structure for
ANKRD33
ECgene alternative splicing isoforms for
ANKRD33

Expression for ANKRD33 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ANKRD33 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ANKRD33 Gene

This gene is overexpressed in Pituitary (x6.9).

Protein differential expression in normal tissues from HIPED for ANKRD33 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ANKRD33 Gene



Protein tissue co-expression partners for ANKRD33 Gene

NURSA nuclear receptor signaling pathways regulating expression of ANKRD33 Gene:

ANKRD33

SOURCE GeneReport for Unigene cluster for ANKRD33 Gene:

Hs.433492

Evidence on tissue expression from TISSUES for ANKRD33 Gene

  • Eye(4)
genes like me logo Genes that share expression patterns with ANKRD33: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ANKRD33 Gene

Orthologs for ANKRD33 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ANKRD33 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ANKRD33 34 33
  • 99.34 (n)
OneToOne
cow
(Bos Taurus)
Mammalia LOC787340 33
  • 84.31 (n)
ANKRD33 34
  • 75 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ANKRD33 34 33
  • 82.29 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ankrd33 16 34 33
  • 79.08 (n)
chicken
(Gallus gallus)
Aves ANKRD33 33
  • 58.31 (n)
lizard
(Anolis carolinensis)
Reptilia ANKRD33 34
  • 37 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii LOC569518 33
  • 49.11 (n)
ankrd33ab 34
  • 32 (a)
OneToMany
ankrd33aa 34
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 21 (a)
OneToMany
Species where no ortholog for ANKRD33 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ANKRD33 Gene

ENSEMBL:
Gene Tree for ANKRD33 (if available)
TreeFam:
Gene Tree for ANKRD33 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ANKRD33: view image

Paralogs for ANKRD33 Gene

Paralogs for ANKRD33 Gene

(1) SIMAP similar genes for ANKRD33 Gene using alignment to 3 proteins:

  • ANR33_HUMAN
  • F8VTQ6_HUMAN
  • Q0VAA8_HUMAN
genes like me logo Genes that share paralogs with ANKRD33: view

Variants for ANKRD33 Gene

Sequence variations from dbSNP and Humsavar for ANKRD33 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000360520 -- 51,888,853(+) C/T intron_variant
rs1000699138 -- 51,887,605(+) G/A upstream_transcript_variant
rs1001367417 -- 51,889,958(+) C/A intron_variant
rs1001375659 -- 51,891,980(+) A/G downstream_transcript_variant
rs1001462321 -- 51,889,658(+) C/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ANKRD33 Gene

Variant ID Type Subtype PubMed ID
dgv1500n100 CNV gain 25217958
esv2761739 CNV gain 21179565
nsv558895 CNV loss 21841781
nsv826373 CNV gain 20364138

Variation tolerance for ANKRD33 Gene

Residual Variation Intolerance Score: 90.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.68; 97.30% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ANKRD33 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANKRD33

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANKRD33 Gene

Disorders for ANKRD33 Gene

Additional Disease Information for ANKRD33

No disorders were found for ANKRD33 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ANKRD33 Gene

Publications for ANKRD33 Gene

  1. Panky, a novel photoreceptor-specific ankyrin repeat protein, is a transcriptional cofactor that suppresses CRX-regulated photoreceptor genes. (PMID: 20026326) Sanuki R … Furukawa T (FEBS letters 2010) 2 3 58
  2. The finished DNA sequence of human chromosome 12. (PMID: 16541075) Scherer SE … Baylor College of Medicine Human Genome Sequencing Center Sequence Production Team (Nature 2006) 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. Genome-wide pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia. (PMID: 21107309) McClay JL … van den Oord EJ (Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology 2011) 3 58
  5. The full-ORF clone resource of the German cDNA Consortium. (PMID: 17974005) Bechtel S … Schupp I (BMC genomics 2007) 4 58

Products for ANKRD33 Gene

Sources for ANKRD33 Gene

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