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Aliases for ANKRD44 Gene

Aliases for ANKRD44 Gene

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

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. An important paralog of this gene is ANKRD28.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for ANKRD44 Gene

Genomics for ANKRD44 Gene

GeneHancer (GH) Regulatory Elements for ANKRD44 Gene

Promoters and enhancers for ANKRD44 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
GH02J197301 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 676.9 +4.6 4550 10.8 HDGF PKNOX1 FOXA2 SMAD1 ARID4B SIN3A YY1 ZNF143 ATF7 RUNX3 ANKRD44 C2orf66 LOC101927596 LOC105373824 ANKRD44-IT1
GH02J197356 Promoter 0.7 EPDnew 650.2 -45.0 -45025 0.1 CTCF PRDM1 ANKRD44 GC02M197365 GC02P197313
GH02J197292 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 32.8 +15.5 15523 6.7 HDGF PKNOX1 STAT5A BMI1 BATF ZNF207 ATF7 ETV6 BCLAF1 IKZF2 ANKRD44 LOC101927596 COQ10B SF3B1 MOB4 ANKRD44-IT1 GC02P197265
GH02J197203 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 27.6 +99.9 99888 15.7 HDGF PKNOX1 FOXA2 SMAD1 IRF4 YY1 TCF12 ATF7 RUNX3 RXRA ANKRD44 ANKRD44-IT1 LOC105373824 MOB4 COQ10B SF3B1 MARS2 HSPD1 LOC105373826 LOC101927596
GH02J197157 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 19.1 +151.6 151589 3.5 HDGF ELF3 FOXA2 ZSCAN4 STAT5A RARA YY1 FOS IKZF2 RUNX3 ANKRD44 ANKRD44-IT1 LOC105373824 COQ10B SF3B1 GC02P197128 LOC101927596
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ANKRD44 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ANKRD44 gene promoter:

Genomic Locations for ANKRD44 Gene

Genomic Locations for ANKRD44 Gene
chr2:196,962,617-197,311,173
(GRCh38/hg38)
Size:
348,557 bases
Orientation:
Minus strand
chr2:197,831,741-198,175,897
(GRCh37/hg19)

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:
    Q8N8A2-ANR44_HUMAN
    Recommended name:
    Serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B
    Protein Accession:
    Q8N8A2
    Secondary Accessions:
    • Q53SL9
    • Q6P480
    • Q86VL5
    • Q8IZ72
    • Q9UFA4

    Protein attributes for ANKRD44 Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

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:

Graphical View of Domain Structure for InterPro Entry

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

No data available for 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 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

Clone Products

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

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 ANKRD44 gene
Compartment Confidence
nucleus 3
cytosol 3
mitochondrion 2
extracellular 1

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

SuperPathways for ANKRD44 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ANKRD44 Gene

None

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

Unigene Clusters for ANKRD44 Gene

Ankyrin repeat domain 44:
Representative Sequences:

Clone Products

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: - - - - - - -
SP3:
SP4: - - - - - -

ExUns: 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32
SP1:
SP2:
SP3:
SP4:

Relevant External Links for ANKRD44 Gene

GeneLoc Exon Structure for
ANKRD44
ECgene alternative splicing isoforms for
ANKRD44

Expression for ANKRD44 Gene

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

NURSA nuclear receptor signaling pathways regulating expression of ANKRD44 Gene:

ANKRD44

SOURCE GeneReport for Unigene cluster for ANKRD44 Gene:

Hs.432706
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 , Evidence on tissue expression from TISSUES 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
chimpanzee
(Pan troglodytes)
Mammalia ANKRD44 33
  • 99.73 (n)
dog
(Canis familiaris)
Mammalia ANKRD44 33
  • 93.33 (n)
cow
(Bos Taurus)
Mammalia ANKRD44 33
  • 92.06 (n)
rat
(Rattus norvegicus)
Mammalia Ankrd44 33
  • 89.36 (n)
mouse
(Mus musculus)
Mammalia Ankrd44 16 33
  • 89.33 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ANKRD44 34
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves ANKRD44 33
  • 82.36 (n)
zebrafish
(Danio rerio)
Actinopterygii ankrd44 33
  • 66.12 (n)
Species where no ortholog for ANKRD44 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)
  • 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 squirt (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

ENSEMBL:
Gene Tree for ANKRD44 (if available)
TreeFam:
Gene Tree for ANKRD44 (if available)
Aminode:
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:

  • ANR44_HUMAN
  • C9JY51_HUMAN
  • F5H682_HUMAN
  • F8WBW3_HUMAN
  • H7BXV4_HUMAN
  • H7C209_HUMAN
  • H7C3P1_HUMAN
  • H7C4A0_HUMAN
  • J3KN93_HUMAN
genes like me logo Genes that share paralogs with ANKRD44: view

Variants for ANKRD44 Gene

Sequence variations from dbSNP and Humsavar for ANKRD44 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000003559 -- 197,291,399(-) A/G/T intron_variant
rs1000005099 -- 197,073,567(-) C/T genic_downstream_transcript_variant, intron_variant
rs1000005430 -- 197,028,758(-) G/A genic_downstream_transcript_variant, intron_variant
rs1000014166 -- 197,248,016(-) C/G intron_variant
rs1000016250 -- 197,038,186(-) T/C genic_downstream_transcript_variant, intron_variant

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)
ANKRD44
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANKRD44

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANKRD44 Gene

Disorders for ANKRD44 Gene

Additional Disease Information for ANKRD44

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for ANKRD44 Gene.

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

Publications for ANKRD44 Gene

  1. 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 44 58
  2. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G … Wijmenga C (Gut 2009) 3 44 58
  3. Protein phosphatase 6 regulatory subunits composed of ankyrin repeat domains. (PMID: 18186651) Stefansson B … Brautigan DL (Biochemistry 2008) 3 4 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  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 58

Products for ANKRD44 Gene

Sources for ANKRD44 Gene

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