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

Gene ID: 253650, updated on 3-Apr-2024

Summary

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
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Genomic context

See ANKRD18A in Genome Data Viewer
Location:
9p13.1
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (38566151..38620596, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (38593354..38644798, complement)
105.20220307 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

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

EBI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General protein information

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_001331100.2NP_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
    Consensus CDS
    CCDS94409.1
    UniProtKB/Swiss-Prot
    A2A2Z9
    UniProtKB/TrEMBL
    A0A8V8TQR3
    Related
    ENSP00000515234.1, ENST00000703205.1
  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
    A2A2Z9, A7MD11, A8MVU5, Q5SY86, Q7Z468, Q8IVF6, Q8NA88
    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: 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_000009.12 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

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

    UniProtKB/Swiss-Prot
    A2A2Z9
    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_024447481.2XP_024303249.1  ankyrin repeat domain-containing protein 18A isoform X3

    UniProtKB/Swiss-Prot
    A2A2Z9
    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_024447480.2XP_024303248.1  ankyrin repeat domain-containing protein 18A isoform X2

    UniProtKB/Swiss-Prot
    A2A2Z9
    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_024447479.2XP_024303247.1  ankyrin repeat domain-containing protein 18A isoform X1

    UniProtKB/Swiss-Prot
    A2A2Z9
    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_011517839.4XP_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: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_017014576.3XP_016870065.1  ankyrin repeat domain-containing protein 18A isoform X5

    UniProtKB/Swiss-Prot
    A2A2Z9
    UniProtKB/TrEMBL
    A0A8V8TQR3
  7. XM_024447482.2XP_024303250.1  ankyrin repeat domain-containing protein 18A isoform X4

    UniProtKB/Swiss-Prot
    A2A2Z9
    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

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_054362605.1XP_054218580.1  ankyrin repeat domain-containing protein 18A isoform X3

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

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

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

    UniProtKB/Swiss-Prot
    A7MD11, A8MVU5, Q5SY86, Q7Z468, Q8IVF6, Q8NA88
  5. XM_054362607.1XP_054218582.1  ankyrin repeat domain-containing protein 18A isoform X5

    UniProtKB/TrEMBL
    A0A8V8TQR3
  6. XM_054362606.1XP_054218581.1  ankyrin repeat domain-containing protein 18A isoform X4