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

Gene ID: 166348, updated on 5-Mar-2024

Summary

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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

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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

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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. Identification of proteins that interact with alpha A-crystallin using a human proteome microarray. Fan Q, et al. Mol Vis, 2014. PMID 24453475, Free PMC Article
  2. The LIFEdb database in 2006. Mehrle A, et al. Nucleic Acids Res, 2006 Jan 1. PMID 16381901, Free PMC Article
  3. From ORFeome to biology: a functional genomics pipeline. Wiemann S, et al. Genome Res, 2004 Oct. PMID 15489336, Free PMC Article
  4. DNA cloning using in vitro site-specific recombination. Hartley JL, et al. Genome Res, 2000 Nov. PMID 11076863, Free PMC Article
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article

See all (7) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

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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Markers

Homology

Clone Names

  • FLJ46299, DKFZp779E2271

General protein information

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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_001370224.1 → NP_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:29 → 586
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:375 → 422
    Kelch; KELCH repeat [structural motif]
    cd18276
    Location:10 → 136
    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:128 → 227
    BACK_KBTBD12; BACK (BTB and C-terminal Kelch) domain found in Kelch repeat and BTB domain-containing protein 12 (KBTBD12)

  2. NM_207335.4 → NP_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:29 → 586
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:375 → 422
    Kelch; KELCH repeat [structural motif]
    cd18276
    Location:10 → 136
    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:128 → 227
    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_047447589.1 → XP_047303545.1  kelch repeat and BTB domain-containing protein 12 isoform X1

    UniProtKB/Swiss-Prot
    B5MCC6, Q3ZCT8, Q6ZRK1

  2. XM_047447590.1 → XP_047303546.1  kelch repeat and BTB domain-containing protein 12 isoform X2

  3. XM_047447591.1 → XP_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_054345489.1 → XP_054201464.1  kelch repeat and BTB domain-containing protein 12 isoform X2

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

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

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q3ZCT8.2 GenPept UniProtKB/Swiss-Prot:Q3ZCT8

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