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Aliases for ANKRD54 Gene

Aliases for ANKRD54 Gene

  • Ankyrin Repeat Domain 54 2 3 5
  • Lyn-Interacting Ankyrin Repeat Protein 2 3 4
  • LIAR 3 4
  • Ankyrin Repeat Domain-Containing Protein 54 3

External Ids for ANKRD54 Gene

Previous GeneCards Identifiers for ANKRD54 Gene

  • GC22M036556
  • GC22M038226
  • GC22M021193
  • GC22M038388
  • GC22M038510
  • GC22M038821
  • GC22M039958
  • GC22M040650
  • GC22M041098

Summaries for ANKRD54 Gene

GeneCards Summary for ANKRD54 Gene

ANKRD54 (Ankyrin Repeat Domain 54) is a Protein Coding gene. GO annotations related to this gene include protein complex binding and protein kinase regulator activity. An important paralog of this gene is ASB8.

UniProtKB/Swiss-Prot for ANKRD54 Gene

  • Plays an important role in regulating intracellular signaling events associated with erythroid terminal differentiation.

Additional gene information for ANKRD54 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 ANKRD54 Gene

Genomics for ANKRD54 Gene

Regulatory Elements for ANKRD54 Gene

Enhancers for ANKRD54 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
GH22H038174 1.8 FANTOM5 ENCODE dbSUPER 30.8 -329.5 -329482 8.7 MLX DMAP1 YBX1 YY1 SLC30A9 ZNF143 SP3 MCM3 NFYC MEF2D DDX17 MAFF ENSG00000228274 CSNK1E ANKRD54 CBY1 ENSG00000230912 PLA2G6 TMEM184B TRIOBP
GH22H037727 1.1 Ensembl ENCODE dbSUPER 29 +121.0 120972 2 CEBPB CEBPG ATF2 ATF3 CEBPA IKZF1 ATF7 PRDM10 PRDM1 ANKRD54 TRIOBP ENSG00000100101 LGALS1 PDXP LOC101927051 GCAT H1F0 GGA1 MIR659
GH22H038681 1.2 ENCODE 20.6 -832.8 -832775 1.9 HDGF PKNOX1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF207 ZNF143 ANKRD54 ENSG00000228274 TAB1 FAM227A SNORD83B DDX17 TRIOBP ENSG00000273076 JOSD1 TOMM22
GH22H037841 1.1 ENCODE 22 +5.8 5758 3.3 HDGF PKNOX1 ARNT ARID4B SIN3A ZNF2 YY1 SLC30A9 ZNF143 ZNF207 GGA1 ANKRD54 LL22NC01-81G9.3 PLA2G6 MIR658 PIR42346
GH22H037683 1.1 ENCODE 20.7 +163.6 163568 3.7 PKNOX1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF416 ENSG00000230912 CSNK1E DDX17 CBY1 TRIOBP ANKRD54 ENSG00000228274 LL22NC01-81G9.3 FAM227A EIF3L
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ANKRD54 on UCSC Golden Path with GeneCards custom track

Promoters for ANKRD54 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000146076 -73 2001 PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 ZNF143

Genomic Locations for ANKRD54 Gene

Genomic Locations for ANKRD54 Gene
18,474 bases
Minus strand

Genomic View for ANKRD54 Gene

Genes around ANKRD54 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANKRD54 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANKRD54 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANKRD54 Gene

Proteins for ANKRD54 Gene

  • Protein details for ANKRD54 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Ankyrin repeat domain-containing protein 54
    Protein Accession:
    Secondary Accessions:
    • Q6ZSB1
    • Q9UGV1

    Protein attributes for ANKRD54 Gene

    300 amino acids
    Molecular mass:
    32505 Da
    Quaternary structure:
    • Interacts (via ankyrin repeat region) with LYN (via SH3-domain) in an activation-independent status of LYN. Forms a multiprotein complex with LYN and HCLS1. Interacts with TSN2, VAV1, DBNL AND LASP1.

    Alternative splice isoforms for ANKRD54 Gene


neXtProt entry for ANKRD54 Gene

Post-translational modifications for ANKRD54 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ANKRD54 Gene

Domains & Families for ANKRD54 Gene

Gene Families for ANKRD54 Gene

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

Protein Domains for ANKRD54 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ANKRD54: view

No data available for UniProtKB/Swiss-Prot for ANKRD54 Gene

Function for ANKRD54 Gene

Molecular function for ANKRD54 Gene

UniProtKB/Swiss-Prot Function:
Plays an important role in regulating intracellular signaling events associated with erythroid terminal differentiation.

Phenotypes From GWAS Catalog for ANKRD54 Gene

Gene Ontology (GO) - Molecular Function for ANKRD54 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0019887 protein kinase regulator activity IEA --
GO:0032403 protein complex binding IEA --
genes like me logo Genes that share ontologies with ANKRD54: view

Phenotypes for ANKRD54 Gene

genes like me logo Genes that share phenotypes with ANKRD54: view

Animal Model Products

CRISPR Products

miRNA for ANKRD54 Gene

miRTarBase miRNAs that target ANKRD54

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ANKRD54 Gene

Localization for ANKRD54 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ANKRD54 Gene

Nucleus. Cytoplasm. Midbody. Note=Shuttles between nucleus and cytoplasm during the cell cycle. EPO stimulation induces nuclear accumulation (By similarity). {ECO:0000250}.

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 ANKRD54 gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for ANKRD54 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005737 cytoplasm ISS --
GO:0030496 midbody ISS --
genes like me logo Genes that share ontologies with ANKRD54: view

Pathways & Interactions for ANKRD54 Gene

SuperPathways for ANKRD54 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ANKRD54 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006913 nucleocytoplasmic transport IEA --
GO:0045648 positive regulation of erythrocyte differentiation ISS,IEA --
GO:0045859 regulation of protein kinase activity IEA --
GO:1902531 regulation of intracellular signal transduction ISS,IEA --
genes like me logo Genes that share ontologies with ANKRD54: view

No data available for Pathways by source and SIGNOR curated interactions for ANKRD54 Gene

Drugs & Compounds for ANKRD54 Gene

No Compound Related Data Available

Transcripts for ANKRD54 Gene

Unigene Clusters for ANKRD54 Gene

Ankyrin repeat domain 54:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ANKRD54 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10a · 10b · 10c · 10d
SP1: - - - -
SP2: - - - -
SP3: - - -
SP4: -
SP5: -
SP6: -
SP7: - - - -
SP8: - - - -

Relevant External Links for ANKRD54 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ANKRD54 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ANKRD54 Gene

Protein differential expression in normal tissues from HIPED for ANKRD54 Gene

This gene is overexpressed in Adrenal (40.4) and Bone (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ANKRD54 Gene

Protein tissue co-expression partners for ANKRD54 Gene

NURSA nuclear receptor signaling pathways regulating expression of ANKRD54 Gene:


SOURCE GeneReport for Unigene cluster for ANKRD54 Gene:


Evidence on tissue expression from TISSUES for ANKRD54 Gene

  • Nervous system(4.5)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with ANKRD54: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ANKRD54 Gene

Orthologs for ANKRD54 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ANKRD54 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ANKRD54 33 34
  • 97.23 (n)
(Canis familiaris)
Mammalia ANKRD54 33 34
  • 90.49 (n)
(Bos Taurus)
Mammalia ANKRD54 33 34
  • 88.73 (n)
(Mus musculus)
Mammalia Ankrd54 33 16 34
  • 86.51 (n)
(Rattus norvegicus)
Mammalia Ankrd54 33
  • 86.39 (n)
(Monodelphis domestica)
Mammalia -- 34
  • 79 (a)
-- 34
  • 62 (a)
(Ornithorhynchus anatinus)
Mammalia ANKRD54 34
  • 73 (a)
(Gallus gallus)
Aves ANKRD54 33 34
  • 77.5 (n)
(Anolis carolinensis)
Reptilia ANKRD54 34
  • 73 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ankrd54 33
  • 69.76 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.4216 33
(Danio rerio)
Actinopterygii ankrd54 33 34
  • 69.92 (n)
wufi33d09 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10527 33
fruit fly
(Drosophila melanogaster)
Insecta CG10809 34
  • 23 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NAS6 34
  • 18 (a)
Species where no ortholog for ANKRD54 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ANKRD54 Gene

Gene Tree for ANKRD54 (if available)
Gene Tree for ANKRD54 (if available)

Paralogs for ANKRD54 Gene

Variants for ANKRD54 Gene

Sequence variations from dbSNP and Humsavar for ANKRD54 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs1000087606 -- 37,839,400(+) TTTAT(G/T)TATTT intron-variant
rs1000220719 -- 37,841,891(+) ATAAA(-/T)TAAAT intron-variant
rs1000251975 -- 37,844,949(+) GATTT(G/T)CAGGC intron-variant, upstream-variant-2KB
rs1000372282 -- 37,838,959(+) AGCTG(-/C)CCCAA intron-variant
rs1000380440 -- 37,844,546(+) CCTTG(C/G)CTTTC intron-variant, nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for ANKRD54 Gene

Variant ID Type Subtype PubMed ID
nsv966109 CNV duplication 23825009
esv3893482 CNV gain 25118596
esv3647720 CNV loss 21293372
esv2758838 CNV loss 17122850
esv2666189 CNV deletion 23128226

Variation tolerance for ANKRD54 Gene

Residual Variation Intolerance Score: 73% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.78; 16.48% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ANKRD54 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANKRD54 Gene

Disorders for ANKRD54 Gene

Relevant External Links for ANKRD54

Genetic Association Database (GAD)
Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for ANKRD54 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ANKRD54 Gene

Publications for ANKRD54 Gene

  1. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 2 3 4 60
  2. Regulation of nucleocytoplasmic shuttling of Bruton's tyrosine kinase (Btk) through a novel SH3-dependent interaction with ankyrin repeat domain 54 (ANKRD54). (PMID: 22527282) Gustafsson MO … Nore BF (Molecular and cellular biology 2012) 2 3 60
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  4. 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 60
  5. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 3 4 60

Products for ANKRD54 Gene

Sources for ANKRD54 Gene

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