ZBTB47 zinc finger and BTB domain containing 47 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ZBTB47provided by HGNC
Official Full Name: zinc finger and BTB domain containing 47provided by HGNC
Primary source: HGNC:HGNC:26955
See related: Ensembl:ENSG00000114853 MIM:619969; AllianceGenome:HGNC:26955
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: ZNF651
Summary: Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in heart (RPKM 22.4), brain (RPKM 14.9) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3p22.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (42652931..42667580)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (42670901..42685579)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (42695189..42709072)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.
Title: De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.
Data show that ZNF651 is a ZNF652 paralogue that shares a common DNA binding sequence with ZNF652 and represses target gene expression through the formation of a CBFA2T3-ZNF651 corepressor complex.
Title: CBFA2T3-ZNF651, like CBFA2T3-ZNF652, functions as a transcriptional corepressor complex.

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A002A29 (e-PCR)
- UniSTS:16917

HSC1MF122 (e-PCR)
- UniSTS:61795

SHGC-76863 (e-PCR)
- UniSTS:76187

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	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

Process	Evidence Code	Pubs
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: zinc finger and BTB domain-containing protein 47

Names: zinc finger protein 651

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_001410746.1 → NP_001397675.1 zinc finger and BTB domain-containing protein 47 isoform 1

Status: VALIDATED

Source sequence(s)

AC006059

Consensus CDS

CCDS93251.1

UniProtKB/TrEMBL

A0A7P0T820

Related

ENSP00000504903.1, ENST00000680014.1
NM_145166.4 → NP_660149.2 zinc finger and BTB domain-containing protein 47 isoform 2

See identical proteins and their annotated locations for NP_660149.2

Status: VALIDATED

Source sequence(s)

AB033016, AC006059, AK127065, BF509106

Consensus CDS

CCDS46805.2

UniProtKB/Swiss-Prot

H7BXD3, Q6ZSY6, Q8WTY8, Q9UFB7, Q9ULN0

Related

ENSP00000232974.6, ENST00000232974.11

Conserved Domains (6) summary

smart00225
Location:18 → 113

BTB; Broad-Complex, Tramtrack and Bric a brac

COG5048
Location:630 → 701

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

TIGR04104
Location:577 → 621

cxxc_20_cxxc; cxxc_20_cxxc protein

sd00017
Location:578 → 598

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00651
Location:4 → 110

BTB; BTB/POZ domain

pfam13465
Location:646 → 669

zf-H2C2_2; Zinc-finger double domain