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

    Gene ID: 253650, updated on 11-Jun-2021

    Summary

    Official Symbol
    ANKRD18Aprovided by HGNC
    Official Full Name
    ankyrin repeat domain 18Aprovided by HGNC
    Primary source
    HGNC:HGNC:23643
    See related
    Ensembl:ENSG00000180071
    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
    NEW
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    Genomic context

    See ANKRD18A in Genome Data Viewer
    Location:
    9p13.1
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (38566260..38620655, complement)
    105.20201022 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 sorting nexin 18 pseudogene 3 Neighboring gene family with sequence similarity 201 member A Neighboring gene tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    Phenotypes

    Associated conditions

    Description Tests
    Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette's Syndrome and OCD.
    GeneReviews: Not available

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ35740, FLJ40632, KIAA2015, MGC176674

    General protein information

    Preferred Names
    ankyrin repeat domain-containing protein 18A

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001331100.2NP_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
    2. NM_147195.4NP_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
      Q8IVF6
      Related
      ENSP00000382610.4, ENST00000399703.6
      Conserved Domains (6) summary
      cd00204
      Location:62187
      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:865969
      DUF3496; Domain of unknown function (DUF3496)
      pfam12796
      Location:72164
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:3888
      Ank_4; Ankyrin repeats (many copies)
      pfam14915
      Location:327617
      CCDC144C; CCDC144C protein coiled-coil region
      sd00045
      Location:6998
      ANK; ANK repeat [structural motif]

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

      Range
      38566260..38620655 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024447483.1XP_024303251.1  ankyrin repeat domain-containing protein 18A isoform X8

      Conserved Domains (6) summary
      cd00204
      Location:62187
      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:6998
      ANK; ANK repeat [structural motif]
      pfam12001
      Location:865969
      DUF3496; Domain of unknown function (DUF3496)
      pfam13637
      Location:3488
      Ank_4; Ankyrin repeats (many copies)
      pfam14915
      Location:327617
      CCDC144C; CCDC144C protein coiled-coil region
      cl25732
      Location:460907
      SMC_N; RecF/RecN/SMC N terminal domain
    2. XM_024447481.1XP_024303249.1  ankyrin repeat domain-containing protein 18A isoform X3

      Conserved Domains (6) summary
      cd00204
      Location:62187
      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:6998
      ANK; ANK repeat [structural motif]
      pfam12001
      Location:9281032
      DUF3496; Domain of unknown function (DUF3496)
      pfam13637
      Location:3488
      Ank_4; Ankyrin repeats (many copies)
      pfam14915
      Location:390680
      CCDC144C; CCDC144C protein coiled-coil region
      cl25732
      Location:523970
      SMC_N; RecF/RecN/SMC N terminal domain
    3. XM_024447480.1XP_024303248.1  ankyrin repeat domain-containing protein 18A isoform X2

      Conserved Domains (6) summary
      cd00204
      Location:62187
      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:6998
      ANK; ANK repeat [structural motif]
      pfam12001
      Location:9281032
      DUF3496; Domain of unknown function (DUF3496)
      pfam13637
      Location:3488
      Ank_4; Ankyrin repeats (many copies)
      pfam14915
      Location:390680
      CCDC144C; CCDC144C protein coiled-coil region
      cl25732
      Location:523970
      SMC_N; RecF/RecN/SMC N terminal domain
    4. XM_024447479.1XP_024303247.1  ankyrin repeat domain-containing protein 18A isoform X1

      Conserved Domains (6) summary
      cd00204
      Location:62187
      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:6998
      ANK; ANK repeat [structural motif]
      pfam12001
      Location:9281032
      DUF3496; Domain of unknown function (DUF3496)
      pfam13637
      Location:3488
      Ank_4; Ankyrin repeats (many copies)
      pfam14915
      Location:390680
      CCDC144C; CCDC144C protein coiled-coil region
      cl25732
      Location:523970
      SMC_N; RecF/RecN/SMC N terminal domain
    5. XM_011517839.3XP_011516141.1  ankyrin repeat domain-containing protein 18A isoform X6

      See identical proteins and their annotated locations for XP_011516141.1

      UniProtKB/Swiss-Prot
      Q8IVF6
      Conserved Domains (6) summary
      cd00204
      Location:62187
      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:865969
      DUF3496; Domain of unknown function (DUF3496)
      pfam12796
      Location:72164
      Ank_2; Ankyrin repeats (3 copies)
      pfam13637
      Location:3888
      Ank_4; Ankyrin repeats (many copies)
      pfam14915
      Location:327617
      CCDC144C; CCDC144C protein coiled-coil region
      sd00045
      Location:6998
      ANK; ANK repeat [structural motif]
    6. XM_017014576.2XP_016870065.1  ankyrin repeat domain-containing protein 18A isoform X5

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

      Conserved Domains (6) summary
      cd00204
      Location:62187
      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:6998
      ANK; ANK repeat [structural motif]
      pfam12001
      Location:9281032
      DUF3496; Domain of unknown function (DUF3496)
      pfam13637
      Location:3488
      Ank_4; Ankyrin repeats (many copies)
      pfam14915
      Location:390680
      CCDC144C; CCDC144C protein coiled-coil region
      cl25732
      Location:523970
      SMC_N; RecF/RecN/SMC N terminal domain
    8. XM_017014577.1XP_016870066.1  ankyrin repeat domain-containing protein 18A isoform X7

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