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ZBTB12 zinc finger and BTB domain containing 12 [ Homo sapiens (human) ]

Gene ID: 221527, updated on 21-Dec-2019

Summary

Official Symbol
ZBTB12provided by HGNC
Official Full Name
zinc finger and BTB domain containing 12provided by HGNC
Primary source
HGNC:HGNC:19066
See related
Ensembl:ENSG00000204366
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
G10; Bat9; NG35; D6S59E; C6orf46
Expression
Ubiquitous expression in ovary (RPKM 4.1), endometrium (RPKM 1.9) and 23 other tissues See more
Orthologs

Genomic context

See ZBTB12 in Genome Data Viewer
Location:
6p21.33
Exon count:
3
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (31899194..31902331, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (31867394..31869769, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene solute carrier family 44 member 4 Neighboring gene uncharacterized LOC107986588 Neighboring gene euchromatic histone lysine methyltransferase 2 Neighboring gene complement C2 Neighboring gene C2 antisense RNA 1 Neighboring gene complement factor B

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

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association study of hepatitis B vaccine response in an Indonesian population reveals multiple independent risk variants in the HLA region.
NHGRI GWA Catalog
GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.
NHGRI GWA Catalog
GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
NHGRI GWA Catalog
The genetic architecture of economic and political preferences.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription repressor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA polymerase II regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
zinc finger and BTB domain-containing protein 12
Names
HLA-B-associated transcript 9

NCBI Reference Sequences (RefSeq)

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_181842.3NP_862825.1  zinc finger and BTB domain-containing protein 12

    See identical proteins and their annotated locations for NP_862825.1

    Status: VALIDATED

    Source sequence(s)
    AL671762
    Consensus CDS
    CCDS4727.1
    UniProtKB/Swiss-Prot
    Q9Y330
    Related
    ENSP00000364677.2, ENST00000375527.3
    Conserved Domains (4) summary
    COG5048
    Location:361448
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:361381
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:359381
    zf-C2H2; Zinc finger, C2H2 type
    pfam00651
    Location:23127
    BTB; BTB/POZ domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    31899194..31902331 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011514383.2XP_011512685.2  zinc finger and BTB domain-containing protein 12 isoform X1

    UniProtKB/Swiss-Prot
    Q9Y330
    Conserved Domains (4) summary
    COG5048
    Location:361448
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:361381
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:359381
    zf-C2H2; Zinc finger, C2H2 type
    pfam00651
    Location:23127
    BTB; BTB/POZ domain

Reference GRCh38.p13 ALT_REF_LOCI_2

Genomic

  1. NT_113891.3 Reference GRCh38.p13 ALT_REF_LOCI_2

    Range
    3377038..3379511 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_3

Genomic

  1. NT_167245.2 Reference GRCh38.p13 ALT_REF_LOCI_3

    Range
    3147387..3149860 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_5

Genomic

  1. NT_167247.2 Reference GRCh38.p13 ALT_REF_LOCI_5

    Range
    3241688..3244161 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_6

Genomic

  1. NT_167248.2 Reference GRCh38.p13 ALT_REF_LOCI_6

    Range
    3155586..3158061 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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