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Kbtbd12 kelch repeat and BTB (POZ) domain containing 12 [ Mus musculus (house mouse) ]

Gene ID: 74589, updated on 5-Mar-2024

Summary

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Official Symbol
Kbtbd12provided by MGI
Official Full Name
kelch repeat and BTB (POZ) domain containing 12provided by MGI
Primary source
MGI:MGI:1918481
See related
Ensembl:ENSMUSG00000033182 AllianceGenome:MGI:1918481
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Klhdc6; 4833415F11Rik; 4933428M03Rik
Summary
Is expressed in brain. Orthologous to human KBTBD12 (kelch repeat and BTB domain containing 12). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in heart adult (RPKM 4.7), mammary gland adult (RPKM 1.7) and 4 other tissues See more
Orthologs
human all
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Genomic context

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Location:
6 D1; 6 39.51 cM
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (88521931..88604636, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (88545079..88627691, complement)

Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene RuvB-like AAA ATPase 1 Neighboring gene predicted gene, 46965 Neighboring gene SEC61 translocon subunit alpha 1 Neighboring gene STARR-seq mESC enhancer starr_16585 Neighboring gene predicted gene, 26588 Neighboring gene monoglyceride lipase Neighboring gene STARR-positive B cell enhancer ABC_E10390 Neighboring gene ankyrin repeat and BTB domain containing 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Identifying new candidate genes for hereditary facial paresis on chromosome 3q21-q22 by RNA in situ hybridization in mouse. van der Zwaag B, et al. Genomics, 2005 Jul. PMID 15953540
  2. Genome-wide expression profiling of mid-gestation placenta and embryo using a 15,000 mouse developmental cDNA microarray. Tanaka TS, et al. Proc Natl Acad Sci U S A, 2000 Aug 1. PMID 10922068, Free PMC Article
  3. Large-scale gene trapping in C57BL/6N mouse embryonic stem cells. Hansen GM, et al. Genome Res, 2008 Oct. PMID 18799693, Free PMC Article
  4. Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Zambrowicz BP, et al. Proc Natl Acad Sci U S A, 2003 Nov 25. PMID 14610273, Free PMC Article
  5. Antisense transcription in the mammalian transcriptome. Katayama S, et al. Science, 2005 Sep 2. PMID 16141073

See all (13) citations in PubMed

GeneRIFs: Gene References Into Functions

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (2) 

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
  

General protein information

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

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_001278671.2 → NP_001265600.1  kelch repeat and BTB domain-containing protein 12

    See identical proteins and their annotated locations for NP_001265600.1

    Status: VALIDATED

    Source sequence(s)
    AC154038, AK014702, AK016973
    Consensus CDS
    CCDS51842.2
    UniProtKB/Swiss-Prot
    E9QJU5, Q9D618
    Related
    ENSMUSP00000112581.2, ENSMUST00000120933.5
    Conserved Domains (6) summary
    smart00612
    Location:435 → 489
    Kelch; Kelch domain
    PHA03098
    Location:27 → 584
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:373 → 420
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:20 → 122
    BTB; BTB/POZ domain
    pfam01344
    Location:481 → 532
    Kelch_1; Kelch motif
    pfam07707
    Location:131 → 233
    BACK; BTB And C-terminal Kelch

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000072.7 Reference GRCm39 C57BL/6J

    Range
    88521931..88604636 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030255648.2 → XP_030111508.1  kelch repeat and BTB domain-containing protein 12 isoform X2

    Conserved Domains (2) summary
    PHA03098
    Location:23 → 192
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:36 → 85
    Kelch; KELCH repeat [structural motif]

  2. XM_036152374.1 → XP_036008267.1  kelch repeat and BTB domain-containing protein 12 isoform X1

    Conserved Domains (4) summary
    PHA03098
    Location:27 → 559
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:373 → 420
    Kelch; KELCH repeat [structural motif]
    cd18276
    Location:8 → 134
    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:126 → 224
    BACK_KBTBD12; BACK (BTB and C-terminal Kelch) domain found in Kelch repeat and BTB domain-containing protein 12 (KBTBD12)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001142724.1: Suppressed sequence

    Description
    NM_001142724.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

  2. NM_029013.2: Suppressed sequence

    Description
    NM_029013.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9D618.3 GenPept UniProtKB/Swiss-Prot:Q9D618

Gene LinkOut

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

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