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ANKRD18B ankyrin repeat domain 18B [ Homo sapiens (human) ]

Gene ID: 441459, updated on 5-May-2024

Summary

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Official Symbol
ANKRD18Bprovided by HGNC
Official Full Name
ankyrin repeat domain 18Bprovided by HGNC
Primary source
HGNC:HGNC:23644
See related
Ensembl:ENSG00000230453 MIM:618930; AllianceGenome:HGNC:23644
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
Also known as
bA255A11.3; bA255A11.5
Expression
Biased expression in testis (RPKM 1.7), skin (RPKM 0.7) and 6 other tissues See more
Orthologs
all
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Genomic context

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Location:
9p13.3
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (33524251..33575442)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (33542752..33593966)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (33524249..33575440)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene SUGT1 pseudogene 1 Neighboring gene vomeronasal 1 receptor 47 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28298 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28299 Neighboring gene MPRA-validated peak7218 silencer Neighboring gene melanoma antigen pseudogene Neighboring gene sorting nexin 18 pseudogene 7 Neighboring gene cytochrome P450 family 4 subfamily F member 26, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:33586601-33587218 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:33600012-33600952

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. Epigenetic regulation of ANKRD18B in lung cancer. Liu WB, et al. Mol Carcinog, 2015 Apr. PMID 24249358
  2. Regulation of ETAA1-mediated ATR activation couples DNA replication fidelity and genome stability. Achuthankutty D, et al. J Cell Biol, 2019 Dec 2. PMID 31615875, Free PMC Article
  3. High-throughput analyses of hnRNP H1 dissects its multi-functional aspect. Uren PJ, et al. RNA Biol, 2016. PMID 26760575, Free PMC Article
  4. VIRMA mediates preferential m(6)A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. Yue Y, et al. Cell Discov, 2018. PMID 29507755, Free PMC Article
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

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

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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Homology

General protein information

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Preferred Names
ankyrin repeat domain-containing protein 18B

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_001353432.2 → NP_001340361.1  ankyrin repeat domain-containing protein 18B isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AL139008, BC009440, BF103989, DB512460, DW421358, DW441346
    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:873 → 977
    DUF3496; Domain of unknown function (DUF3496)
    pfam13637
    Location:34 → 88
    Ank_4; Ankyrin repeats (many copies)
    pfam14915
    Location:335 → 625
    CCDC144C; CCDC144C protein coiled-coil region
    cl25732
    Location:468 → 918
    SMC_N; RecF/RecN/SMC N terminal domain

  2. NM_001393611.1 → NP_001380540.1  ankyrin repeat domain-containing protein 18B isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL139008
    Consensus CDS
    CCDS94397.1
    UniProtKB/Swiss-Prot
    A2A2Z9
    UniProtKB/TrEMBL
    A0A8I5KZ96
    Related
    ENSP00000510683.1, ENST00000684830.1
    Conserved Domains (4) summary
    COG0419
    Location:401 → 993
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    COG0666
    Location:62 → 225
    ANKYR; Ankyrin repeat [Signal transduction mechanisms]
    sd00045
    Location:69 → 98
    ANK; ANK repeat [structural motif]
    pfam13637
    Location:34 → 88
    Ank_4; Ankyrin repeats (many copies)

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
    33524251..33575442
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    33542752..33593966
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001013728.1: Suppressed sequence

    Description
    NM_001013728.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

  2. NM_001244752.1: Suppressed sequence

    Description
    NM_001244752.1: This RefSeq was removed 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
A2A2Z9.1 GenPept UniProtKB/Swiss-Prot:A2A2Z9

Gene LinkOut

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