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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

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 ANKRD23.

UniProtKB/Swiss-Prot for ANKRD54 Gene

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

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
GH22G037727 1.2 Ensembl ENCODE dbSUPER 29 +121.0 120972 2.0 CTCF ZSCAN4 KLF17 CEBPB CEBPG MNT ATF2 ATF3 POLR2A IKZF1 ANKRD54 TRIOBP ENSG00000100101 LGALS1 PDXP LOC101927051 H1F0 GCAT GGA1 MIR659
GH22G037841 1.1 ENCODE 22 +5.8 5758 3.3 HDGF PKNOX1 CREB3L1 ARNT ARID4B SIN3A ZNF2 YY1 SLC30A9 ZNF766 ANKRD54 PIR42346 MIR658
GH22G037886 1.3 ENCODE dbSUPER 18.6 -38.4 -38434 2.3 FOXA2 PKNOX1 MLX ARID4B SIN3A FEZF1 ZNF48 ZNF121 ELK1 FOS GALR3 ANKRD54 MIR659 EIF3L GCAT H1F0 POLR2F SOX10 GC22P037892 ENSG00000279738
GH22G037801 1.7 FANTOM5 ENCODE dbSUPER 12.3 +43.8 43798 7.3 MLX CREB3L1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC GCAT H1F0 GALR3 ANKRD54 MIR659 EIF3L PRDX3P1 JOSD1 C1QTNF6 CSNK1E
GH22G036859 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.8 +987.7 987678 4.2 HDGF PKNOX1 ARNT SIN3A GLI4 YBX1 TCF12 GATA2 ZNF143 ZNF207 PVALB CSF2RB NCF4 ANKRD54 RPS15AP38 CYTH4 RAC2 NCF4-AS1
- 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 CREB3L1 ARNT WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1

Genomic Location for ANKRD54 Gene

Chromosome:
22
Start:
37,830,854 bp from pter
End:
37,849,327 bp from pter
Size:
18,474 bases
Orientation:
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:
    Q6NXT1-ANR54_HUMAN
    Recommended name:
    Ankyrin repeat domain-containing protein 54
    Protein Accession:
    Q6NXT1
    Secondary Accessions:
    • Q6ZSB1
    • Q9UGV1

    Protein attributes for ANKRD54 Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

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

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.

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

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 ANKRD54 gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 1

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 IEA,ISS --
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: - - - -
SP9:

Relevant External Links for ANKRD54 Gene

GeneLoc Exon Structure for
ANKRD54
ECgene alternative splicing isoforms for
ANKRD54

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:

ANKRD54

SOURCE GeneReport for Unigene cluster for ANKRD54 Gene:

Hs.135259

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
chimpanzee
(Pan troglodytes)
Mammalia ANKRD54 34 35
  • 97.23 (n)
dog
(Canis familiaris)
Mammalia ANKRD54 34 35
  • 90.49 (n)
cow
(Bos Taurus)
Mammalia ANKRD54 34 35
  • 88.73 (n)
mouse
(Mus musculus)
Mammalia Ankrd54 34 16 35
  • 86.51 (n)
rat
(Rattus norvegicus)
Mammalia Ankrd54 34
  • 86.39 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 79 (a)
OneToMany
-- 35
  • 62 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia ANKRD54 35
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves ANKRD54 34 35
  • 77.5 (n)
lizard
(Anolis carolinensis)
Reptilia ANKRD54 35
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ankrd54 34
  • 69.76 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.4216 34
zebrafish
(Danio rerio)
Actinopterygii ankrd54 34 35
  • 69.92 (n)
wufi33d09 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10527 34
fruit fly
(Drosophila melanogaster)
Insecta CG10809 35
  • 23 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NAS6 35
  • 18 (a)
OneToMany
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

ENSEMBL:
Gene Tree for ANKRD54 (if available)
TreeFam:
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
esv2666189 CNV deletion 23128226
esv2758838 CNV loss 17122850
esv3647720 CNV loss 21293372
esv3893482 CNV gain 25118596
nsv966109 CNV duplication 23825009

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
ANKRD54

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)
ANKRD54
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ANKRD54

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 J.E. … Dunham I. (Genome Biol. 2004) 2 3 4 64
  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 M.O. … Nore B.F. (Mol. Cell. Biol. 2012) 2 3 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I. … Wright H. (Nature 1999) 3 4 64

Products for ANKRD54 Gene

Sources for ANKRD54 Gene

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