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    ANKRD55 ankyrin repeat domain 55 [ Homo sapiens (human) ]

    Gene ID: 79722, updated on 17-Sep-2024

    Summary

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    Official Symbol
    ANKRD55provided by HGNC
    Official Full Name
    ankyrin repeat domain 55provided by HGNC
    Primary source
    HGNC:HGNC:25681
    See related
    Ensembl:ENSG00000164512 MIM:615189; AllianceGenome:HGNC:25681
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Expression
    Biased expression in testis (RPKM 1.8), lymph node (RPKM 0.8) and 10 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ANKRD55 in Genome Data Viewer
    Location:
    5q11.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (56099680..56233330, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (56928078..57060891, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (55395507..55529157, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA U13 Neighboring gene Sharpr-MPRA regulatory region 5314 Neighboring gene IL6ST divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22560 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22561 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16018 Neighboring gene uncharacterized LOC105378976 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:55369795-55370296 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22562 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:55375429-55376193 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:55378657-55379318 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22563 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:55385865-55386365 Neighboring gene Sharpr-MPRA regulatory region 6268 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:55418099-55418271 Neighboring gene uncharacterized LOC101928419 Neighboring gene RNA, U6 small nuclear 299, pseudogene Neighboring gene CRISPRi-FlowFISH-validated IL6ST regulatory element GRCh37_chr5:55444297-55444797 Neighboring gene ribosomal protein L17 pseudogene 22 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16019 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:55452705-55453500 Neighboring gene RNA, 5S ribosomal pseudogene 184 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:55455891-55456686 Neighboring gene Sharpr-MPRA regulatory region 5241 Neighboring gene C1GALT1 pseudogene 2 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:55535983-55537182 Neighboring gene NANOG hESC enhancer GRCh37_chr5:55553446-55553953 Neighboring gene RNA, 5S ribosomal pseudogene 185 Neighboring gene proteasome 26S subunit, ATPase 1 pseudogene 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Positive Association between ANKRD55 Polymorphism 7731626 and Dermatomyositis/Polymyositis with Interstitial Lung Disease in Chinese Han Population. Li L, et al. Biomed Res Int, 2017. PMID 28470010, Free PMC Article
    2. Novel Insights into the Multiple Sclerosis Risk Gene ANKRD55. Lopez de Lapuente A, et al. J Immunol, 2016 Jun 1. PMID 27183579
    3. Genome-wide significant association of ANKRD55 rs6859219 and multiple sclerosis risk. Lill CM, et al. J Med Genet, 2013 Mar. PMID 23315543
    4. Genomic Multiple Sclerosis Risk Variants Modulate the Expression of the ANKRD55-IL6ST Gene Region in Immature Dendritic Cells. Mena J, et al. Front Immunol, 2021. PMID 35111166, Free PMC Article
    5. Investigating the association of polymorphisms of ANKRD55 and MMEL1 with susceptibility to multiple sclerosis in Iranian population. Yazdanpanah M, et al. Int J Neurosci, 2022 Oct. PMID 33491520

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Investigating the association of polymorphisms of ANKRD55 and MMEL1 with susceptibility to multiple sclerosis in Iranian population.
      Title: Investigating the association of polymorphisms of ANKRD55 and MMEL1 with susceptibility to multiple sclerosis in Iranian population.
    2. Genomic Multiple Sclerosis Risk Variants Modulate the Expression of the ANKRD55-IL6ST Gene Region in Immature Dendritic Cells.
      Title: Genomic Multiple Sclerosis Risk Variants Modulate the Expression of the ANKRD55-IL6ST Gene Region in Immature Dendritic Cells.
    3. Molecular analysis of pediatric CNS-PNET revealed nosologic heterogeneity and potent diagnostic markers for CNS neuroblastoma with FOXR2-activation.
      Title: Molecular analysis of pediatric CNS-PNET revealed nosologic heterogeneity and potent diagnostic markers for CNS neuroblastoma with FOXR2-activation.
    4. Interactome of the Autoimmune Risk Protein ANKRD55.
      Title: Interactome of the Autoimmune Risk Protein ANKRD55.
    5. This is the first study to demonstrate a positive association between ANKRD55 polymorphism and dermatomyositis/polymyositis with interstitial lung disease (DM/PM)-ILD . A decreased frequency of rs7731626-A in DM-ILD and DM/PM-ILD patients suggests that the A variant may be protective against DM/PM-ILD.
      Title: Positive Association between ANKRD55 Polymorphism 7731626 and Dermatomyositis/Polymyositis with Interstitial Lung Disease in Chinese Han Population.
    6. The present study was conducted to shed light on the expression of ANKRD55 in the immune and nervous systems, to investigate the possible relationship of rs6859219 with ANKRD55 expression regulation, and to explore the relationship of ANKRD55 with Multiple Sclerosis.
      Title: Novel Insights into the Multiple Sclerosis Risk Gene ANKRD55.
    7. Performed a genome-wide significant association study of ANKRD55 rs6859219 and multiple sclerosis risk. Genotyped ANKRD55 rs6859219 in 5106 MS cases and 3740 healthy control subjects.
      Title: Genome-wide significant association of ANKRD55 rs6859219 and multiple sclerosis risk.
    8. ANKRD55 rs459193 and GRB14 rs13389219 associate with insulin resistance.
      Title: Type 2 diabetes risk alleles near BCAR1 and in ANK1 associate with decreased β-cell function whereas risk alleles near ANKRD55 and GRB14 associate with decreased insulin sensitivity in the Danish Inter99 cohort.
    9. ANKRD55 and DHCR7 are novel multiple sclerosis risk loci.
      Title: ANKRD55 and DHCR7 are novel multiple sclerosis risk loci.
    10. Observational study of gene-disease association. (HuGE Navigator)
      Title: Inherited genetic variant predisposes to aggressive but not indolent prostate cancer.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Biological, clinical and population relevance of 95 loci for blood lipids.
    EBI GWAS Catalog
    Genetics of rheumatoid arthritis contributes to biology and drug discovery.
    EBI GWAS Catalog
    Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
    EBI GWAS Catalog
    Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.
    EBI GWAS Catalog
    Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
    EBI GWAS Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ11795, MGC126013, MGC126014

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    ankyrin repeat domain-containing protein 55

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_024669.3 → NP_078945.2  ankyrin repeat domain-containing protein 55

      See identical proteins and their annotated locations for NP_078945.2

      Status: VALIDATED

      Source sequence(s)
      AK123389, AW269928, DA292581
      Consensus CDS
      CCDS34161.1
      UniProtKB/Swiss-Prot
      B3KVT8, Q3KP44, Q3KP45, Q9HAD3
      UniProtKB/TrEMBL
      D6RBD3
      Related
      ENSP00000342295.4, ENST00000341048.9
      Conserved Domains (3) summary
      cd00204
      Location:121 → 250
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam12796
      Location:199 → 295
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:60 → 91
      ANK; ANK repeat [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      56099680..56233330 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047417710.1 → XP_047273666.1  ankyrin repeat domain-containing protein 55 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      56928078..57060891 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054353459.1 → XP_054209434.1  ankyrin repeat domain-containing protein 55 isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001039935.1: Suppressed sequence

      Description
      NM_001039935.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3KP44.3 GenPept UniProtKB/Swiss-Prot:Q3KP44

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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