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ZBTB24 zinc finger and BTB domain containing 24 [ Homo sapiens (human) ]

Gene ID: 9841, updated on 10-Oct-2019

Summary

Official Symbol
ZBTB24provided by HGNC
Official Full Name
zinc finger and BTB domain containing 24provided by HGNC
Primary source
HGNC:HGNC:21143
See related
Ensembl:ENSG00000112365 MIM:614064
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BIF1; ICF2; PATZ2; ZNF450
Summary
This gene encodes a protein similar to a protein in rodents which is induced by bone morphogenic protein 2 in vitro. [provided by RefSeq, Aug 2011]
Expression
Ubiquitous expression in lymph node (RPKM 6.3), testis (RPKM 4.0) and 25 other tissues See more
Orthologs

Genomic context

See ZBTB24 in Genome Data Viewer
Location:
6q21
Exon count:
7
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (109462516..109483237, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (109783719..109804440, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene CD164 molecule Neighboring gene peptidylprolyl isomerase like 6 Neighboring gene microtubule associated monooxygenase, calponin and LIM domain containing 1 Neighboring gene uncharacterized LOC105377935 Neighboring gene sphingomyelin phosphodiesterase 2 Neighboring gene adenylate kinase 9 Neighboring gene FIG4 phosphoinositide 5-phosphatase

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
MedGen: C3279748 OMIM: 614069 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
NHGRI GWA Catalog
Many sequence variants affecting diversity of adult human height.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription regulatory region DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
hematopoietic progenitor cell differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
nucleoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
zinc finger and BTB domain-containing protein 24
Names
POZ (BTB) and AT hook containing zinc finger 2
zinc finger protein 450

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.

Genomic

  1. NG_029388.1 RefSeqGene

    Range
    5001..25722
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_326

mRNA and Protein(s)

  1. NM_001164313.1NP_001157785.1  zinc finger and BTB domain-containing protein 24 isoform 2

    See identical proteins and their annotated locations for NP_001157785.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and the 3' coding region, compared to variant 1, resulting in a significantly shorter protein (isoform 2) that has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AB007901, BC036731
    UniProtKB/Swiss-Prot
    O43167
    Conserved Domains (3) summary
    sd00017
    Location:296316
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:295316
    zf-C2H2; Zinc finger, C2H2 type
    pfam00651
    Location:27133
    BTB; BTB/POZ domain
  2. NM_014797.2NP_055612.2  zinc finger and BTB domain-containing protein 24 isoform 1

    See identical proteins and their annotated locations for NP_055612.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB007901, BC117374, BX648883
    Consensus CDS
    CCDS34509.1
    UniProtKB/Swiss-Prot
    O43167
    Related
    ENSP00000230122.3, ENST00000230122.3
    Conserved Domains (3) summary
    COG5048
    Location:321480
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:408428
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00651
    Location:27133
    BTB; BTB/POZ domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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
    109462516..109483237 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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