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    ANKRD30BL ankyrin repeat domain 30B like [ Homo sapiens (human) ]

    Gene ID: 554226, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ANKRD30BLprovided by HGNC
    Official Full Name
    ankyrin repeat domain 30B likeprovided by HGNC
    Primary source
    HGNC:HGNC:35167
    See related
    Ensembl:ENSG00000163046 AllianceGenome:HGNC:35167
    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
    ANKRD30BP3; NCRNA00164
    Expression
    Restricted expression toward testis (RPKM 7.1) See more
    Orthologs
    all
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    Genomic context

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    See ANKRD30BL in Genome Data Viewer
    Location:
    2q21.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (132147591..132258033, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (132583202..132693619, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (132905164..133015606, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene zinc finger domain containing pseudogene Neighboring gene vomeronasal 1 receptor 19 pseudogene Neighboring gene RNA, U6 small nuclear 1132, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:132919818-132920318 Neighboring gene NANOG hESC enhancer GRCh37_chr2:132971497-132971998 Neighboring gene OCT4 hESC enhancer GRCh37_chr2:132980674-132981222 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:132984155-132984765 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:132998825-132999732 Neighboring gene uncharacterized LOC107985804 Neighboring gene RNA, 18S ribosomal pseudogene Neighboring gene Sharpr-MPRA regulatory region 3869 Neighboring gene RNA, 5.8S ribosomal pseudogene 5 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:133025240-133025752 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:133025753-133026264 Neighboring gene uncharacterized LOC105373622 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr2:133027787-133028728 Neighboring gene microRNA 663b Neighboring gene cell division cycle 27 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
    • 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. Characterization of a cancer/testis (CT) antigen gene family capable of eliciting humoral response in cancer patients. Parmigiani RB, et al. Proc Natl Acad Sci U S A, 2006 Nov 28. PMID 17114284, Free PMC Article
    2. A transcript finishing initiative for closing gaps in the human transcriptome. Sogayar MC, et al. Genome Res, 2004 Jul. PMID 15197164, Free PMC Article
    3. RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination. Choudhury NR, et al. BMC Biol, 2017 Nov 8. PMID 29117863, Free PMC Article
    4. 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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    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    General protein information

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    Preferred Names
    putative ankyrin repeat domain-containing protein 30B-like
    Names
    ankyrin repeat domain 30B pseudogene 3

    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_001358416.1 → NP_001345345.1  putative ankyrin repeat domain-containing protein 30B-like

      Status: VALIDATED

      Source sequence(s)
      AC098826
      Consensus CDS
      CCDS86883.1
      UniProtKB/Swiss-Prot
      A7E2S9, B8ZZL7
      Related
      ENSP00000386398.1, ENST00000409867.6
      Conserved Domains (2) summary
      cd00204
      Location:66 → 191
      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:104 → 135
      ANK; ANK repeat [structural motif]

    RNA

    1. NR_027019.3 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC098826

    2. NR_027020.3 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC097532, AC098826, BC045801
      Related
      ENST00000470729.5

    3. NR_152415.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC097532, AC098826

    4. NR_163999.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC098826

    5. NR_164000.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC098826

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      132147591..132258033 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047444913.1 → XP_047300869.1  putative ankyrin repeat domain-containing protein 30B-like isoform X1

      Related
      ENSP00000295181.6, ENST00000295181.6

    RNA

    1. XR_002959312.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      132583202..132693619 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054342831.1 → XP_054198806.1  putative ankyrin repeat domain-containing protein 30B-like isoform X1

    RNA

    1. XR_008486443.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001024655.1: Suppressed sequence

      Description
      NM_001024655.1: This RefSeq record was removed by NCBI staff. Contact [email protected] for further information.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A7E2S9.3 GenPept UniProtKB/Swiss-Prot:A7E2S9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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