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    KBTBD12 kelch repeat and BTB domain containing 12 [ Homo sapiens (human) ]

    Gene ID: 166348, updated on 17-Jun-2024

    Summary

    Official Symbol
    KBTBD12provided by HGNC
    Official Full Name
    kelch repeat and BTB domain containing 12provided by HGNC
    Primary source
    HGNC:HGNC:25731
    See related
    Ensembl:ENSG00000187715 AllianceGenome:HGNC:25731
    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
    KLHDC6
    Expression
    Biased expression in heart (RPKM 3.3), stomach (RPKM 0.6) and 10 other tissues See more
    Orthologs
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    Genomic context

    See KBTBD12 in Genome Data Viewer
    Location:
    3q21.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (127915232..127987677)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (130649819..130722268)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (127634075..127706520)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986129 Neighboring gene uncharacterized LOC105374096 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20475 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:127616018-127616222 Neighboring gene uncharacterized LOC124909427 Neighboring gene RNA, 5S ribosomal pseudogene 139 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:127730388-127730888 Neighboring gene uncharacterized LOC102723759 Neighboring gene Sharpr-MPRA regulatory region 3038 Neighboring gene CRISPRi-FlowFISH-validated RPN1 regulatory element 1 Neighboring gene Sharpr-MPRA regulatory regions 9818 and 11773 Neighboring gene SEC61 translocon subunit alpha 1 Neighboring gene RuvB like AAA ATPase 1 Neighboring gene RNA, U2 small nuclear 37, pseudogene

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

    Preferred Names
    kelch repeat and BTB domain-containing protein 12
    Names
    kelch domain containing 6
    kelch domain-containing protein 6
    kelch repeat and BTB (POZ) domain containing 12

    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_001370224.1NP_001357153.1  kelch repeat and BTB domain-containing protein 12

      Status: VALIDATED

      Source sequence(s)
      AC011311
      Consensus CDS
      CCDS33848.2
      UniProtKB/Swiss-Prot
      B5MCC6, Q3ZCT8, Q6ZRK1
      Conserved Domains (4) summary
      PHA03098
      Location:29586
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:375422
      Kelch; KELCH repeat [structural motif]
      cd18276
      Location:10136
      BTB_POZ_KBTBD12; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch repeat and BTB domain-containing protein 12 (KBTBD12)
      cd18485
      Location:128227
      BACK_KBTBD12; BACK (BTB and C-terminal Kelch) domain found in Kelch repeat and BTB domain-containing protein 12 (KBTBD12)
    2. NM_207335.4NP_997218.2  kelch repeat and BTB domain-containing protein 12

      See identical proteins and their annotated locations for NP_997218.2

      Status: VALIDATED

      Source sequence(s)
      AC011311
      Consensus CDS
      CCDS33848.2
      UniProtKB/Swiss-Prot
      B5MCC6, Q3ZCT8, Q6ZRK1
      Related
      ENSP00000385957.1, ENST00000405109.5
      Conserved Domains (4) summary
      PHA03098
      Location:29586
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:375422
      Kelch; KELCH repeat [structural motif]
      cd18276
      Location:10136
      BTB_POZ_KBTBD12; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch repeat and BTB domain-containing protein 12 (KBTBD12)
      cd18485
      Location:128227
      BACK_KBTBD12; BACK (BTB and C-terminal Kelch) domain found in Kelch repeat and BTB domain-containing protein 12 (KBTBD12)

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      127915232..127987677
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047447589.1XP_047303545.1  kelch repeat and BTB domain-containing protein 12 isoform X1

      UniProtKB/Swiss-Prot
      B5MCC6, Q3ZCT8, Q6ZRK1
    2. XM_047447590.1XP_047303546.1  kelch repeat and BTB domain-containing protein 12 isoform X2

    3. XM_047447591.1XP_047303547.1  kelch repeat and BTB domain-containing protein 12 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      130649819..130722268
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345489.1XP_054201464.1  kelch repeat and BTB domain-containing protein 12 isoform X2

    2. XM_054345488.1XP_054201463.1  kelch repeat and BTB domain-containing protein 12 isoform X1

    3. XM_054345490.1XP_054201465.1  kelch repeat and BTB domain-containing protein 12 isoform X3