ZBED4 zinc finger BED-type containing 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ZBED4provided by HGNC
Official Full Name: zinc finger BED-type containing 4provided by HGNC
Primary source: HGNC:HGNC:20721
See related: Ensembl:ENSG00000100426 MIM:612552; AllianceGenome:HGNC:20721
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
Summary: Enables identical protein binding activity. Predicted to be involved in positive regulation of transcription by RNA polymerase II. Located in cytoplasm and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in bone marrow (RPKM 4.8), colon (RPKM 4.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q13.33

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (49852850..49890080)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (50357143..50394562)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (50247492..50283728)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

There was no association between SNPs in the BRD1 and ZBED4 genes and schizophrenia in the Chinese population.
Title: No association of BRD1 and ZBED4 polymorphisms with schizophrenia in the Chinese Han population.
ZBED4, a novel protein that in human retina is localized to cone photoreceptors and glial Muller cells.
Title: ZBED4, a novel retinal protein expressed in cones and Müller cells.
Observational study of gene-disease association. (HuGE Navigator)
Title: Support of association between BRD1 and both schizophrenia and bipolar affective disorder.
ZBED4 cellular/subcellular localization and domains suggest a regulatory role for this protein, which may exert its effects in cones and Muller cells through multiple ways of action.
Title: ZBED4, a BED-type zinc-finger protein in the cones of the human retina.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. 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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Markers

RH80531 (e-PCR)
- UniSTS:91715

NoName (e-PCR)
- UniSTS:487040

G54075 (e-PCR)
- UniSTS:109457

A004G14 (e-PCR)
- UniSTS:17387

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	ISS Inferred from Sequence or Structural Similarity more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein dimerization activity	IEA Inferred from Electronic Annotation more info
enables transcription cis-regulatory region binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in photoreceptor inner segment	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: zinc finger BED domain-containing protein 4

Names: zinc finger, BED domain containing 4

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_014838.3 → NP_055653.2 zinc finger BED domain-containing protein 4

See identical proteins and their annotated locations for NP_055653.2

Status: VALIDATED

Source sequence(s)

AA809789, AL117328, DB457646

Consensus CDS

CCDS33677.1

UniProtKB/Swiss-Prot

B2RZH1, O75132, Q1ECU0, Q9UGG8

Related

ENSP00000216268.4, ENST00000216268.6

Conserved Domains (2) summary

pfam02892
Location:118 → 166

zf-BED; BED zinc finger

pfam05699
Location:1088 → 1164

Dimer_Tnp_hAT; hAT family C-terminal dimerisation region

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000022.11 Reference GRCh38.p14 Primary Assembly

Range

49852850..49890080

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047441685.1 → XP_047297641.1 zinc finger BED domain-containing protein 4 isoform X1

UniProtKB/Swiss-Prot

B2RZH1, O75132, Q1ECU0, Q9UGG8
XM_047441686.1 → XP_047297642.1 zinc finger BED domain-containing protein 4 isoform X1

UniProtKB/Swiss-Prot

B2RZH1, O75132, Q1ECU0, Q9UGG8
XM_047441684.1 → XP_047297640.1 zinc finger BED domain-containing protein 4 isoform X1

UniProtKB/Swiss-Prot

B2RZH1, O75132, Q1ECU0, Q9UGG8
XM_024452312.2 → XP_024308080.1 zinc finger BED domain-containing protein 4 isoform X1

UniProtKB/Swiss-Prot

B2RZH1, O75132, Q1ECU0, Q9UGG8

Conserved Domains (2) summary

pfam02892
Location:118 → 166

zf-BED; BED zinc finger

pfam05699
Location:1088 → 1164

Dimer_Tnp_hAT; hAT family C-terminal dimerisation region

Alternate T2T-CHM13v2.0

Genomic

NC_060946.1 Alternate T2T-CHM13v2.0

Range

50357143..50394562

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054326250.1 → XP_054182225.1 zinc finger BED domain-containing protein 4 isoform X1
XM_054326251.1 → XP_054182226.1 zinc finger BED domain-containing protein 4 isoform X1
XM_054326248.1 → XP_054182223.1 zinc finger BED domain-containing protein 4 isoform X1
XM_054326249.1 → XP_054182224.1 zinc finger BED domain-containing protein 4 isoform X1