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

Gene ID: 166348, updated on 23-Nov-2021

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
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:
9
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (127915232..127987677)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (127634075..127706520)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene monoglyceride lipase Neighboring gene uncharacterized LOC107986127 Neighboring gene MGLL intron CAGE-defined high expression enhancer Neighboring gene uncharacterized LOC107986129 Neighboring gene uncharacterized LOC105374096 Neighboring gene RNA, 5S ribosomal pseudogene 139 Neighboring gene uncharacterized LOC102723759 Neighboring gene Sharpr-MPRA regulatory region 3038 Neighboring gene CRISPRi-FlowFISH-validated RPN1 regulatory element Neighboring gene SEC61 translocon subunit alpha 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

General gene information

Markers

Homology

Clone Names

  • FLJ46299, DKFZp779E2271

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
    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
    Q3ZCT8
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011512491.2XP_011510793.1  kelch repeat and BTB domain-containing protein 12 isoform X2

    Conserved Domains (6) summary
    smart00612
    Location:437491
    Kelch; Kelch domain
    PHA03098
    Location:29561
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:375422
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:22124
    BTB; BTB/POZ domain
    pfam01344
    Location:483534
    Kelch_1; Kelch motif
    pfam07707
    Location:133235
    BACK; BTB And C-terminal Kelch
  2. XM_011512492.2XP_011510794.1  kelch repeat and BTB domain-containing protein 12 isoform X3

    Conserved Domains (6) summary
    smart00612
    Location:437491
    Kelch; Kelch domain
    PHA03098
    Location:29561
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:375422
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:22124
    BTB; BTB/POZ domain
    pfam01344
    Location:483534
    Kelch_1; Kelch motif
    pfam07707
    Location:133235
    BACK; BTB And C-terminal Kelch
  3. XM_005247168.4XP_005247225.1  kelch repeat and BTB domain-containing protein 12 isoform X1

    See identical proteins and their annotated locations for XP_005247225.1

    UniProtKB/Swiss-Prot
    Q3ZCT8
    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)
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