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

Gene ID: 79722, updated on 5-Mar-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
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Genomic context

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Location:
5q11.2
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (56099680..56233330, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (56928078..57060891, complement)
105.20220307 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
  • 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_2023_10

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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