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    ANKRD18A ankyrin repeat domain 18A [ Homo sapiens (human) ]

    Gene ID: 253650, updated on 10-Oct-2024

    Summary

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    Official Symbol
    ANKRD18Aprovided by HGNC
    Official Full Name
    ankyrin repeat domain 18Aprovided by HGNC
    Primary source
    HGNC:HGNC:23643
    See related
    Ensembl:ENSG00000180071 MIM:620259; AllianceGenome:HGNC:23643
    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 bone marrow (RPKM 5.3), testis (RPKM 4.1) and 7 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ANKRD18A in Genome Data Viewer
    Location:
    9p13.1
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (38566151..38620596, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (38593354..38644798, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (38571361..38620593, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene Putative SIPAR-like protein C9orf51 Neighboring gene cytochrome P450 family 4 subfamily F member 33, pseudogene Neighboring gene family with sequence similarity 95 member C Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:38568859-38569528 Neighboring gene sorting nexin 18 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28417 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28418 Neighboring gene family with sequence similarity 201 member A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:38642561-38643062 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:38643063-38643562 Neighboring gene tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta pseudogene 1

    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. ANKRD18A as a novel epigenetic regulation gene in lung cancer. Liu WB, et al. Biochem Biophys Res Commun, 2012 Dec 14. PMID 23131552
    2. Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD. Yu D, et al. Am J Psychiatry, 2015 Jan. PMID 25158072, Free PMC Article
    3. Proteomic and biochemical analysis of 14-3-3-binding proteins during C2-ceramide-induced apoptosis. Pozuelo-Rubio M. FEBS J, 2010 Aug. PMID 20618440
    4. E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins. Khanna R, et al. FEBS J, 2018 Jun. PMID 29676528
    5. Protein interaction landscapes revealed by advanced in vivo cross-linking-mass spectrometry. Wheat A, et al. Proc Natl Acad Sci U S A, 2021 Aug 10. PMID 34349018, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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
    Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette's Syndrome and OCD.
    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

    • FLJ35740, FLJ40632, KIAA2015, MGC176674

    General protein information

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    Preferred Names
    ankyrin repeat domain-containing protein 18A

    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_001331100.2 → NP_001318029.1  ankyrin repeat domain-containing protein 18A isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL591543
      Consensus CDS
      CCDS94409.1
      UniProtKB/Swiss-Prot
      A2A2Z9
      UniProtKB/TrEMBL
      A0A8V8TQR3
      Related
      ENSP00000515234.1, ENST00000703205.1

    2. NM_147195.4 → NP_671728.2  ankyrin repeat domain-containing protein 18A isoform 2

      See identical proteins and their annotated locations for NP_671728.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks two in-frame exons compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AB095935, AL591543, BC056266
      Consensus CDS
      CCDS55311.1
      UniProtKB/Swiss-Prot
      A2A2Z9, A7MD11, A8MVU5, Q5SY86, Q7Z468, Q8IVF6, Q8NA88
      Related
      ENSP00000382610.4, ENST00000399703.6
      Conserved Domains (6) summary
      cd00204
      Location:62 → 187
      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 ...
      pfam12001
      Location:865 → 969
      DUF3496; Domain of unknown function (DUF3496)
      pfam12796
      Location:72 → 164
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:38 → 88
      Ank_4; Ankyrin repeats (many copies)
      pfam14915
      Location:327 → 617
      CCDC144C; CCDC144C protein coiled-coil region
      sd00045
      Location:69 → 98
      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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      38566151..38620596 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024447483.2 → XP_024303251.1  ankyrin repeat domain-containing protein 18A isoform X7

      UniProtKB/Swiss-Prot
      A2A2Z9
      Conserved Domains (6) summary
      cd00204
      Location:62 → 187
      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 ...
      sd00045
      Location:69 → 98
      ANK; ANK repeat [structural motif]
      pfam12001
      Location:865 → 969
      DUF3496; Domain of unknown function (DUF3496)
      pfam13637
      Location:34 → 88
      Ank_4; Ankyrin repeats (many copies)
      pfam14915
      Location:327 → 617
      CCDC144C; CCDC144C protein coiled-coil region
      cl25732
      Location:460 → 907
      SMC_N; RecF/RecN/SMC N terminal domain

    2. XM_024447481.2 → XP_024303249.1  ankyrin repeat domain-containing protein 18A isoform X3

      UniProtKB/Swiss-Prot
      A2A2Z9
      Conserved Domains (6) summary
      cd00204
      Location:62 → 187
      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 ...
      sd00045
      Location:69 → 98
      ANK; ANK repeat [structural motif]
      pfam12001
      Location:928 → 1032
      DUF3496; Domain of unknown function (DUF3496)
      pfam13637
      Location:34 → 88
      Ank_4; Ankyrin repeats (many copies)
      pfam14915
      Location:390 → 680
      CCDC144C; CCDC144C protein coiled-coil region
      cl25732
      Location:523 → 970
      SMC_N; RecF/RecN/SMC N terminal domain

    3. XM_024447480.2 → XP_024303248.1  ankyrin repeat domain-containing protein 18A isoform X2

      UniProtKB/Swiss-Prot
      A2A2Z9
      Conserved Domains (6) summary
      cd00204
      Location:62 → 187
      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 ...
      sd00045
      Location:69 → 98
      ANK; ANK repeat [structural motif]
      pfam12001
      Location:928 → 1032
      DUF3496; Domain of unknown function (DUF3496)
      pfam13637
      Location:34 → 88
      Ank_4; Ankyrin repeats (many copies)
      pfam14915
      Location:390 → 680
      CCDC144C; CCDC144C protein coiled-coil region
      cl25732
      Location:523 → 970
      SMC_N; RecF/RecN/SMC N terminal domain

    4. XM_024447479.2 → XP_024303247.1  ankyrin repeat domain-containing protein 18A isoform X1

      UniProtKB/Swiss-Prot
      A2A2Z9
      Conserved Domains (6) summary
      cd00204
      Location:62 → 187
      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 ...
      sd00045
      Location:69 → 98
      ANK; ANK repeat [structural motif]
      pfam12001
      Location:928 → 1032
      DUF3496; Domain of unknown function (DUF3496)
      pfam13637
      Location:34 → 88
      Ank_4; Ankyrin repeats (many copies)
      pfam14915
      Location:390 → 680
      CCDC144C; CCDC144C protein coiled-coil region
      cl25732
      Location:523 → 970
      SMC_N; RecF/RecN/SMC N terminal domain

    5. XM_011517839.4 → XP_011516141.1  ankyrin repeat domain-containing protein 18A isoform X6

      See identical proteins and their annotated locations for XP_011516141.1

      UniProtKB/Swiss-Prot
      A2A2Z9, A7MD11, A8MVU5, Q5SY86, Q7Z468, Q8IVF6, Q8NA88
      Conserved Domains (6) summary
      cd00204
      Location:62 → 187
      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 ...
      pfam12001
      Location:865 → 969
      DUF3496; Domain of unknown function (DUF3496)
      pfam12796
      Location:72 → 164
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:38 → 88
      Ank_4; Ankyrin repeats (many copies)
      pfam14915
      Location:327 → 617
      CCDC144C; CCDC144C protein coiled-coil region
      sd00045
      Location:69 → 98
      ANK; ANK repeat [structural motif]

    6. XM_017014576.3 → XP_016870065.1  ankyrin repeat domain-containing protein 18A isoform X5

      UniProtKB/Swiss-Prot
      A2A2Z9
      UniProtKB/TrEMBL
      A0A8V8TQR3

    7. XM_024447482.2 → XP_024303250.1  ankyrin repeat domain-containing protein 18A isoform X4

      UniProtKB/Swiss-Prot
      A2A2Z9
      Conserved Domains (6) summary
      cd00204
      Location:62 → 187
      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 ...
      sd00045
      Location:69 → 98
      ANK; ANK repeat [structural motif]
      pfam12001
      Location:928 → 1032
      DUF3496; Domain of unknown function (DUF3496)
      pfam13637
      Location:34 → 88
      Ank_4; Ankyrin repeats (many copies)
      pfam14915
      Location:390 → 680
      CCDC144C; CCDC144C protein coiled-coil region
      cl25732
      Location:523 → 970
      SMC_N; RecF/RecN/SMC N terminal domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      38593354..38644798 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054362605.1 → XP_054218580.1  ankyrin repeat domain-containing protein 18A isoform X3

    2. XM_054362604.1 → XP_054218579.1  ankyrin repeat domain-containing protein 18A isoform X2

    3. XM_054362603.1 → XP_054218578.1  ankyrin repeat domain-containing protein 18A isoform X1

    4. XM_054362608.1 → XP_054218583.1  ankyrin repeat domain-containing protein 18A isoform X6

      UniProtKB/Swiss-Prot
      A7MD11, A8MVU5, Q5SY86, Q7Z468, Q8IVF6, Q8NA88

    5. XM_054362607.1 → XP_054218582.1  ankyrin repeat domain-containing protein 18A isoform X5

      UniProtKB/TrEMBL
      A0A8V8TQR3

    6. XM_054362606.1 → XP_054218581.1  ankyrin repeat domain-containing protein 18A isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IVF6.3 GenPept UniProtKB/Swiss-Prot:Q8IVF6

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