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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
  • GC22M041500
  • GC22M041911

Summaries for ANKRD54 Gene

GeneCards Summary for ANKRD54 Gene

ANKRD54 (Ankyrin Repeat Domain 54) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include protein kinase regulator activity. An important paralog of this gene is ANKRD1.

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

GeneHancer (GH) Regulatory Elements for ANKRD54 Gene

Promoters and enhancers for ANKRD54 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
GH22J037841 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 672 +5.8 5758 3.3 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A ZNF2 YY1 SLC30A9 POLR2B ANKRD54 MIR658 GGA1 DDX17 LL22NC01-81G9.3 EIF3L PLA2G6 PIR42346
GH22J037847 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 +0.2 188 2.6 PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B E2F8 EIF3L GC22M042993 MIR659 PIR48437 ANKRD54 CSNK1E ENSG00000230912 DDX17 H1F0 GCAT
GH22J038174 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 30.8 -329.5 -329482 8.7 MLX DMAP1 YBX1 IRF4 YY1 SLC30A9 E2F8 ZNF143 MCM3 SP3 PLA2G6 DDX17 MAFF ENSG00000228274 PRDX3P1 CSNK1E ANKRD54 CBY1 ENSG00000230912 TRIOBP
GH22J037683 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 20.7 +163.6 163567 3.7 PKNOX1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 IRF4 YY1 NOL12 ENSG00000100101 ENSG00000230912 CSNK1E CBY1 TRIOBP ANKRD54 ENSG00000228274 DDX17 LL22NC01-81G9.3
GH22J038681 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 20.6 -832.8 -832775 1.9 FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC ZFP41 SSRP1 ENSG00000228274 TOMM22 ANKRD54 TAB1 DDX17 FAM227A SNORD83B TRIOBP PLA2G6 ENSG00000273076
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ANKRD54 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ANKRD54 gene promoter:

Genomic Locations for ANKRD54 Gene

Genomic Locations for ANKRD54 Gene
chr22:37,830,854-37,849,327
(GRCh38/hg38)
Size:
18,474 bases
Orientation:
Minus strand
chr22:38,226,862-38,245,334
(GRCh37/hg19)

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

HGNC:
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:0044877 protein-containing complex binding IEA --
genes like me logo Genes that share ontologies with ANKRD54: view
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ANKRD54

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

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 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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ANKRD54

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, 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

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 33
  • 97.23 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ANKRD54 34 33
  • 90.49 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ANKRD54 34 33
  • 88.73 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ankrd54 16 34 33
  • 86.51 (n)
rat
(Rattus norvegicus)
Mammalia Ankrd54 33
  • 86.39 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 79 (a)
OneToMany
-- 34
  • 62 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia ANKRD54 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves ANKRD54 34 33
  • 77.5 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ANKRD54 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ankrd54 33
  • 69.76 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.4216 33
zebrafish
(Danio rerio)
Actinopterygii ankrd54 34 33
  • 69.92 (n)
OneToOne
wufi33d09 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10527 33
fruit fly
(Drosophila melanogaster)
Insecta CG10809 34
  • 23 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NAS6 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ANKRD54: view image

Paralogs for ANKRD54 Gene

Paralogs for ANKRD54 Gene

(38) SIMAP similar genes for ANKRD54 Gene using alignment to 9 proteins:

  • ANR54_HUMAN
  • B5MCX7_HUMAN
  • C9JU48_HUMAN
  • C9JX82_HUMAN
  • D3YTC9_HUMAN
  • F8WB76_HUMAN
  • H7BZV9_HUMAN
  • H7C3L3_HUMAN
  • V9GYU2_HUMAN

Pseudogenes.org Pseudogenes for ANKRD54 Gene

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

Variants for ANKRD54 Gene

Sequence variations from dbSNP and Humsavar for ANKRD54 Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
rs1000087606 -- 37,839,400(-) T/G intron_variant
rs1000220719 -- 37,841,892(-) T/TT intron_variant
rs1000251975 -- 37,844,949(-) G/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000372282 -- 37,838,960(-) CCC/CCCC intron_variant
rs1000380440 -- 37,844,546(-) G/C 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, non_coding_transcript_variant, upstream_transcript_variant

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)

Additional Variant Information 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

Additional Disease Information for 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 JE … Dunham I (Genome biology 2004) 2 3 4 58
  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 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. 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
  5. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 3 4 58

Products for ANKRD54 Gene

Sources for ANKRD54 Gene

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