DPF2 double PHD fingers 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DPF2provided by HGNC
Official Full Name: double PHD fingers 2provided by HGNC
Primary source: HGNC:HGNC:9964
See related: Ensembl:ENSG00000133884 MIM:601671; AllianceGenome:HGNC:9964
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: REQ; CSS7; UBID4; ubi-d4; SMARCG2
Summary: The protein encoded by this gene is a member of the d4 domain family, characterized by a zinc finger-like structural motif. This protein functions as a transcription factor which is necessary for the apoptotic response following deprivation of survival factors. It likely serves a regulatory role in rapid hematopoietic cell growth and turnover. This gene is considered a candidate gene for multiple endocrine neoplasia type I, an inherited cancer syndrome involving multiple parathyroid, enteropancreatic, and pituitary tumors. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in testis (RPKM 23.7), ovary (RPKM 23.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q13.1

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (65333852..65354262)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (65327170..65347565)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (65101323..65121733)

Chromosome 11 - NC_000011.10 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?

DPF2-related Coffin-Siris syndrome type 7 in two generations.
Title: DPF2-related Coffin-Siris syndrome type 7 in two generations.
BAF45D knockdown decreases cell viability, inhibits colony formation, induces cell apoptosis and S-phase arrest in human pancreatic cancer cells.
Title: BAF45D knockdown decreases cell viability, inhibits colony formation, induces cell apoptosis and S-phase arrest in human pancreatic cancer cells.
de novo variants in DPF2 cause Coffin-Siris syndrome and propose a dominant-negative mechanism of pathogenicity.
Title: Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.
Authors show that DPF2 interacts with the acetylated tails of both histones 3 and 4 via bipartite binding pockets on the DPF2 surface. Blocking these interactions through targeted mutagenesis of DPF2 abolishes its recruitment to target chromatin regions as well as its ability to prevent myeloid differentiation in vivo.
Title: Histone-binding of DPF2 mediates its repressive role in myeloid differentiation.
Upon influenza virus infection, DPF2 dysregulated IFN-beta induction and expression of cytokines/chemokines and antiviral proteins. This study provides evidence that influenza virus utilizes DPF2 to escape host innate immunity.
Title: Double Plant Homeodomain Fingers 2 (DPF2) Promotes the Immune Escape of Influenza Virus by Suppressing Beta Interferon Production.
The demonstrate that the histone acetylation-binding double PHD finger (DPF) domains of human MOZ (also known as KAT6A) and DPF2 (also known as BAF45d) accommodate a wide range of histone lysine acylation with the strongest preference for propionylation (Kcr).
Title: Selective recognition of histone crotonylation by double PHD fingers of MOZ and DPF2.
the role of SMARCA4 and the two SWI/SNF subunits SMARCD2/BAF60B and DPF2/BAF45D in leukaemia, was investigated.
Title: SWI/SNF Subunits SMARCA4, SMARCD2 and DPF2 Collaborate in MLL-Rearranged Leukaemia Maintenance.
DPF2 decreases monomeric and mono-ubiquitinated OCT4, assembles poly-ubiquitin chains on OCT4 mainly through Ub-K48 linkage
Title: DPF2 regulates OCT4 protein level and nuclear distribution.
crystal structure of the C2H2-type zinc finger domain of human DPF2 with a canonical C2H2 fold, which contains two beta strands and one alpha helix, was reported.
Title: Crystal structure of the Cys2His2-type zinc finger domain of human DPF2.
found that targeting Requiem and Alg-2 did not result in extended culture viability, but resulted in an increase in maximum viable cell numbers and cumulative IVCD under fed-batch conditions
Title: Simultaneous targeting of Requiem & Alg-2 in Chinese hamster ovary cells for improved recombinant protein production.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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

Associated conditions

Description	Tests
Coffin-Siris syndrome 7 MedGen: C4747954 OMIM: 618027 GeneReviews: Coffin-Siris Syndrome	not available

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

D11S2921 (e-PCR)
- UniSTS:152074

D11S2302E (e-PCR)
- UniSTS:22295

G54111 (e-PCR)
- UniSTS:109348

PMC156606P2 (e-PCR)
- UniSTS:271409

D8S2279 (e-PCR)
- UniSTS:473907

D8S2282 (e-PCR)
- UniSTS:473910

L18426 (e-PCR)
- UniSTS:34648

D16S325 (e-PCR)
- UniSTS:147089

csnpreq-pcr1-1 (e-PCR)
- UniSTS:243118

RH45882 (e-PCR)
- UniSTS:12503

G33111 (e-PCR)
- UniSTS:16346

D6S1214E (e-PCR)
- UniSTS:51162

SHGC-53496 (e-PCR)
- UniSTS:82412

D11S3316 (e-PCR)
- UniSTS:152558

MARC_23907-23908:1042828544:1 (e-PCR)
- UniSTS:268797

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables H3K9me3 modified histone binding	IDA Inferred from Direct Assay more info	PubMed
enables lysine-acetylated histone binding	IDA Inferred from Direct Assay 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 transcription corepressor activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in apoptotic process	TAS Traceable Author Statement more info	PubMed
involved_in apoptotic signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in chromatin remodeling	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of myeloid progenitor cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	TAS Traceable Author Statement more info	PubMed
involved_in nervous system development	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of double-strand break repair	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of stem cell population maintenance	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of G0 to G1 transition	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of G1/S transition of mitotic cell cycle	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of mitotic metaphase/anaphase transition	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of nucleotide-excision repair	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of transcription by RNA polymerase II	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of SWI/SNF complex	NAS Non-traceable Author Statement more info	PubMed
located_in centrosome	IDA Inferred from Direct Assay more info
located_in chromatin	HDA more info	PubMed
located_in chromatin	IDA Inferred from Direct Assay more info	PubMed
located_in chromatin	NAS Non-traceable Author Statement more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
part_of nBAF complex	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: zinc finger protein ubi-d4

Names: BAF45D; BRG1-associated factor 45D; D4, zinc and double PHD fingers family 2; apoptosis response zinc finger protein; protein requiem; requiem, apoptosis response zinc finger

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_001330308.2 → NP_001317237.1 zinc finger protein ubi-d4 isoform 2

Status: REVIEWED

Source sequence(s)

AI381588, AL555427, AP000944, BI753338, BP201169, CB045170

Consensus CDS

CCDS81583.1

UniProtKB/TrEMBL

A0A994J426, J3KMZ8

Related

ENSP00000252268.4, ENST00000252268.8

Conserved Domains (4) summary

COG5189
Location:201 → 247

SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]

cd15530
Location:343 → 388

PHD2_d4; PHD finger 2 found in d4 gene family proteins

cd15691
Location:286 → 341

PHD1_DPF2_like; PHD finger 1 found in D4, zinc and double PHD fingers family 2 (DPF2)

pfam14051
Location:13 → 75

Requiem_N; N-terminal domain of DPF2/REQ
NM_006268.5 → NP_006259.1 zinc finger protein ubi-d4 isoform 1

See identical proteins and their annotated locations for NP_006259.1

Status: REVIEWED

Source sequence(s)

AK313408, AP000944, BC014889

Consensus CDS

CCDS8100.1

UniProtKB/Swiss-Prot

A8K7C9, B4DT58, Q92785

UniProtKB/TrEMBL

A0A994J426

Related

ENSP00000436901.1, ENST00000528416.6

Conserved Domains (4) summary

COG5189
Location:201 → 233

SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]

cd15530
Location:329 → 374

PHD2_d4; PHD finger 2 found in d4 gene family proteins

cd15691
Location:272 → 327

PHD1_DPF2_like; PHD finger 1 found in D4, zinc and double PHD fingers family 2 (DPF2)

pfam14051
Location:13 → 75

Requiem_N; N-terminal domain of DPF2/REQ

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_000011.10 Reference GRCh38.p14 Primary Assembly

Range

65333852..65354262

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017018101.3 → XP_016873590.1 zinc finger protein ubi-d4 isoform X1

UniProtKB/TrEMBL

A0A994J426

Conserved Domains (4) summary

COG5189
Location:181 → 227

SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]

cd15530
Location:323 → 368

PHD2_d4; PHD finger 2 found in d4 gene family proteins

cd15691
Location:266 → 321

PHD1_DPF2_like; PHD finger 1 found in D4, zinc and double PHD fingers family 2 (DPF2)

pfam14051
Location:1 → 55

Requiem_N; N-terminal domain of DPF2/REQ