Aliases for ANKRD44 Gene

Aliases for ANKRD44 Gene

  • Ankyrin Repeat Domain 44 2 3 5
  • PP6-ARS-B 2 3 4
  • Serine/Threonine-Protein Phosphatase 6 Regulatory Ankyrin Repeat Subunit B 3 4
  • Serine/Threonine-Protein Phosphatase 6 Regulatory Subunit ARS-B 3 4
  • Ankyrin Repeat Domain-Containing Protein 44 3 4
  • Protein Phosphatase 6 Ankyrin Repeat Subunit B 2
  • ANKRD44 5

External Ids for ANKRD44 Gene

Previous GeneCards Identifiers for ANKRD44 Gene

  • GC02M197657
  • GC02M197539
  • GC02M197567
  • GC02M197832
  • GC02M189712

Summaries for ANKRD44 Gene

GeneCards Summary for ANKRD44 Gene

ANKRD44 (Ankyrin Repeat Domain 44) is a Protein Coding gene. Diseases associated with ANKRD44 include Blepharoconjunctivitis and Glass Syndrome. An important paralog of this gene is ANKRD28.

UniProtKB/Swiss-Prot Summary for ANKRD44 Gene

  • Putative regulatory subunit of protein phosphatase 6 (PP6) that may be involved in the recognition of phosphoprotein substrates.

Additional gene information for ANKRD44 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ANKRD44 Gene

Genomics for ANKRD44 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ANKRD44 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ANKRD44 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ANKRD44

Top Transcription factor binding sites by QIAGEN in the ANKRD44 gene promoter:
  • aMEF-2
  • FOXC1
  • HNF-1
  • HNF-1A
  • Ik-1
  • MEF-2A
  • POU6F1 (c2)
  • S8
  • SRF
  • SRF (504 AA)

Genomic Locations for ANKRD44 Gene

Genomic Locations for ANKRD44 Gene
348,557 bases
Minus strand
344,157 bases
Minus strand

Genomic View for ANKRD44 Gene

Genes around ANKRD44 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANKRD44 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANKRD44 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANKRD44 Gene

Proteins for ANKRD44 Gene

  • Protein details for ANKRD44 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B
    Protein Accession:
    Secondary Accessions:
    • Q53SL9
    • Q6P480
    • Q86VL5
    • Q8IZ72
    • Q9UFA4

    Protein attributes for ANKRD44 Gene

    993 amino acids
    Molecular mass:
    107603 Da
    Quaternary structure:
    • Protein phosphatase 6 (PP6) holoenzyme is proposed to be a heterotrimeric complex formed by the catalytic subunit, a SAPS domain-containing subunit (PP6R) and an ankyrin repeat-domain containing regulatory subunit (ARS). Interacts with PPP6R1.

    Alternative splice isoforms for ANKRD44 Gene


neXtProt entry for ANKRD44 Gene

Post-translational modifications for ANKRD44 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ANKRD44 Gene

Domains & Families for ANKRD44 Gene

Gene Families for ANKRD44 Gene

Protein Domains for ANKRD44 Gene

Suggested Antigen Peptide Sequences for ANKRD44 Gene

GenScript: Design optimal peptide antigens:
  • Ankyrin repeat domain-containing protein 44 (ANR44_HUMAN)
genes like me logo Genes that share domains with ANKRD44: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ANKRD44 Gene

Function for ANKRD44 Gene

Molecular function for ANKRD44 Gene

UniProtKB/Swiss-Prot Function:
Putative regulatory subunit of protein phosphatase 6 (PP6) that may be involved in the recognition of phosphoprotein substrates.

Phenotypes From GWAS Catalog for ANKRD44 Gene

Gene Ontology (GO) - Molecular Function for ANKRD44 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 16555005
genes like me logo Genes that share ontologies with ANKRD44: view

Phenotypes for ANKRD44 Gene

genes like me logo Genes that share phenotypes with ANKRD44: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ANKRD44

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ANKRD44 Gene

Localization for ANKRD44 Gene

Subcellular locations from

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 ANKRD44 gene
Compartment Confidence
nucleus 3
cytosol 3
mitochondrion 2
extracellular 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nuclear speckles (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for ANKRD44 Gene

Pathways & Interactions for ANKRD44 Gene

PathCards logo

SuperPathways for ANKRD44 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ANKRD44 Gene


No data available for Pathways by source and SIGNOR curated interactions for ANKRD44 Gene

Drugs & Compounds for ANKRD44 Gene

No Compound Related Data Available

Transcripts for ANKRD44 Gene

mRNA/cDNA for ANKRD44 Gene

9 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ANKRD44

Alternative Splicing Database (ASD) splice patterns (SP) for ANKRD44 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23 ^
SP1: - -
SP2: - - - - - - -
SP4: - - - - - -

ExUns: 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32

Relevant External Links for ANKRD44 Gene

GeneLoc Exon Structure for

Expression for ANKRD44 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ANKRD44 Gene

mRNA differential expression in normal tissues according to GTEx for ANKRD44 Gene

This gene is overexpressed in Whole Blood (x6.3).

Protein differential expression in normal tissues from HIPED for ANKRD44 Gene

This gene is overexpressed in Lymph node (19.4), Peripheral blood mononuclear cells (12.5), and CD8 Tcells (9.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ANKRD44 Gene

Protein tissue co-expression partners for ANKRD44 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ANKRD44

SOURCE GeneReport for Unigene cluster for ANKRD44 Gene:


Evidence on tissue expression from TISSUES for ANKRD44 Gene

  • Nervous system(2.1)
genes like me logo Genes that share expression patterns with ANKRD44: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ANKRD44 Gene

Orthologs for ANKRD44 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ANKRD44 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ANKRD44 30
  • 99.73 (n)
(Canis familiaris)
Mammalia ANKRD44 30
  • 93.33 (n)
(Bos Taurus)
Mammalia ANKRD44 30
  • 92.06 (n)
(Rattus norvegicus)
Mammalia Ankrd44 30
  • 89.36 (n)
(Mus musculus)
Mammalia Ankrd44 30 17
  • 89.33 (n)
(Ornithorhynchus anatinus)
Mammalia ANKRD44 31
  • 66 (a)
(Gallus gallus)
Aves ANKRD44 30
  • 82.36 (n)
(Danio rerio)
Actinopterygii ankrd44 30
  • 66.12 (n)
Species where no ortholog for ANKRD44 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • 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 Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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 ANKRD44 Gene

Gene Tree for ANKRD44 (if available)
Gene Tree for ANKRD44 (if available)
Evolutionary constrained regions (ECRs) for ANKRD44: view image

Paralogs for ANKRD44 Gene

Paralogs for ANKRD44 Gene

(59) SIMAP similar genes for ANKRD44 Gene using alignment to 9 proteins:

  • C9JY51_HUMAN
  • F5H682_HUMAN
  • H7C209_HUMAN
  • H7C3P1_HUMAN
  • H7C4A0_HUMAN
  • J3KN93_HUMAN
genes like me logo Genes that share paralogs with ANKRD44: view

Variants for ANKRD44 Gene

Additional dbSNP identifiers (rs#s) for ANKRD44 Gene

Structural Variations from Database of Genomic Variants (DGV) for ANKRD44 Gene

Variant ID Type Subtype PubMed ID
dgv4149n100 CNV gain 25217958
esv22536 CNV loss 19812545
esv23521 CNV gain 19812545
esv2674646 CNV deletion 23128226
esv2721337 CNV deletion 23290073
esv3366688 CNV insertion 20981092
esv3575323 CNV gain 25503493
esv3593899 CNV loss 21293372
esv3593902 CNV loss 21293372
esv3593904 CNV loss 21293372
esv3593905 CNV loss 21293372
nsv1002666 CNV gain 25217958
nsv1071646 CNV deletion 25765185
nsv1123421 CNV deletion 24896259
nsv1126573 CNV deletion 24896259
nsv1144921 CNV deletion 24896259
nsv215425 CNV deletion 16902084
nsv460015 CNV gain 19166990
nsv474293 CNV novel sequence insertion 20440878
nsv526549 CNV loss 19592680
nsv584154 CNV loss 21841781
nsv584155 CNV gain 21841781
nsv834505 CNV loss 17160897
nsv954815 CNV duplication 24416366
nsv961545 CNV duplication 23825009

Variation tolerance for ANKRD44 Gene

Residual Variation Intolerance Score: 16.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.80; 58.32% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ANKRD44 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ANKRD44 Gene

Disorders for ANKRD44 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ANKRD44 Gene - From: DISEASES

Disorder Aliases PubMed IDs
glass syndrome
  • glass
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ANKRD44

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ANKRD44: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ANKRD44 Gene

Publications for ANKRD44 Gene

  1. Protein phosphatase 6 regulatory subunits composed of ankyrin repeat domains. (PMID: 18186651) Stefansson B … Brautigan DL (Biochemistry 2008) 2 3 4
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  3. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G … Wijmenga C (Gut 2009) 3 41
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. 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

Products for ANKRD44 Gene

Sources for ANKRD44 Gene