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

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 AllianceGenome:HGNC:19066
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
Summary: Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II; regulation of cytokine production; and regulation of immune system process. Located in nucleoplasm. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in ovary (RPKM 4.1), endometrium (RPKM 1.9) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p21.33

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (31899613..31902086, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (31752857..31755330, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (31867390..31869863, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ZBTB12 is a molecular barrier to dedifferentiation in human pluripotent stem cells.
Title: ZBTB12 is a molecular barrier to dedifferentiation in human pluripotent stem cells.
Results find ZBTB12 hypomethylation to be linked to shorter TNF-a stimulated whole blood coagulation time and increased WBC and granulocyte counts, further elucidating the possible link between ZBTB12 methylation and cardiovascular disease risk.
Title: ZBTB12 DNA methylation is associated with coagulation- and inflammation-related blood cell parameters: findings from the Moli-family cohort.
Single nucleotide polymorphisms at C6orf48, BAT2 and ZBTB12 are associated with estrogen receptor positive breast cancer in the Chinese Han population.
Title: Association of MHC class-III gene polymorphisms with ER-positive breast cancer in Chinese Han population.

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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

EBI 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. EBI GWAS Catalog EBI GWAS CatalogPubMed
GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region. EBI GWAS Catalog EBI GWAS CatalogPubMed
GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. EBI GWAS Catalog EBI GWAS CatalogPubMed
The genetic architecture of economic and political preferences. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in negative regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of cytokine production	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of immune system process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in nucleoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: zinc finger and BTB domain-containing protein 12

Names: HLA-B-associated transcript 9

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)

NM_181842.3 → NP_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

B0UY00, Q5JQ98, Q9Y330

Related

ENSP00000364677.2, ENST00000375527.3

Conserved Domains (4) summary

COG5048
Location:361 → 448

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:361 → 381

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:359 → 381

zf-C2H2; Zinc finger, C2H2 type

pfam00651
Location:23 → 127

BTB; BTB/POZ domain