Gene Gene information from NCBI Gene database.
Entrez ID 5977
Gene name Double PHD fingers 2
Gene symbol DPF2
Synonyms (NCBI Gene)
CSS7REQSMARCG2UBID4ubi-d4
Chromosome 11
Chromosome location 11q13.1
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 fa
SNPs SNP information provided by dbSNP.
5
SNP ID Visualize variation Clinical significance Consequence
rs1555031372 G>T Pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs1555031500 C>G Pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs1555032044 A>G Pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs1555032051 G>A Pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs1555032074 G>A Pathogenic Splice donor variant
miRNA miRNA information provided by mirtarbase database.
519
miRTarBase ID miRNA Experiments Reference
MIRT022792 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT032431 hsa-let-7b-5p Proteomics 18668040
MIRT615267 hsa-miR-3126-3p HITS-CLIP 23824327
MIRT615266 hsa-miR-6752-3p HITS-CLIP 23824327
MIRT615265 hsa-miR-5088-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
34
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II TAS 28533407
GO:0000785 Component Chromatin HDA 16217013
GO:0000785 Component Chromatin IDA 28533407
GO:0000785 Component Chromatin NAS 12192000
GO:0003714 Function Transcription corepressor activity TAS 28533407
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601671 9964 ENSG00000133884
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q92785
Protein name Zinc finger protein ubi-d4 (Apoptosis response zinc finger protein) (BRG1-associated factor 45D) (BAF45D) (D4, zinc and double PHD fingers family 2) (Protein requiem)
Protein function Plays an active role in transcriptional regulation by binding modified histones H3 and H4 (PubMed:27775714, PubMed:28533407). Is a negative regulator of myeloid differentiation of hematopoietic progenitor cells (PubMed:28533407). Might also have
PDB 3IUF , 5B79 , 5VDC , 6LTH , 6LTJ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14051 Requiem_N 13 84 N-terminal domain of DPF2/REQ. Family
PF00628 PHD 272 330 PHD-finger Domain
PF00628 PHD 329 376 PHD-finger Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous.
Sequence
MAAVVENVVKLLGEQYYKDAMEQCHNYNARLCAERSVRLPFLDSQTGVAQSNCYIWMEKR
HRGPGLASGQLYSYPARRWRKKRR
AHPPEDPRLSFPSIKPDTDQTLKKEGLISQDGSSLE
ALLRTDPLEKRGAPDPRVDDDSLGEFPVTNSRARKRILEPDDFLDDLDDEDYEEDTPKRR
GKGKSKGKGVGSARKKLDASILEDRDKPYACDICGKRYKNRPGLSYHYAHSHLAEEEGED
KEDSQPPTPVSQRSEEQKSKKGPDGLALPNNYCDFCLGDSKINKKTGQPEELVSCSDCGR
SGHPSCLQFTPVMMAAVKTYRWQCIECK
CCNICGTSENDDQLLFCDDCDRGYHMYCLTPS
MSEPPEGSWSCHLCLD
LLKEKASIYQNQNSS
Sequence length 391
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  ATP-dependent chromatin remodeling  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
41
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Coffin-Siris syndrome 1 Pathogenic rs1555031372 RCV000664329
Coffin-Siris syndrome 7 Pathogenic; Likely pathogenic rs2137711041, rs2137711145, rs2495413705, rs35405661, rs2495407169, rs1555031372, rs1555031500, rs1555032051, rs1555032044, rs1555032074 RCV001527371
RCV002221832
RCV002470268
RCV003148493
RCV003989273
RCV000656717
RCV000656718
RCV000656719
RCV000656720
RCV000656721
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autism spectrum disorder Likely benign rs1231310174 RCV003127341
Developmental disorder Likely benign rs148550551 RCV001843775
DPF2-related disorder Likely benign; Benign; Uncertain significance rs137933237, rs61736579, rs201023047, rs4647578, rs146359123, rs202235809, rs770082049, rs1197539414, rs370514099, rs376241523, rs2495388265, rs539873389 RCV003958413
RCV004754851
RCV003923473
RCV003933403
RCV003903509
RCV003951064
RCV003973664
RCV003416902
RCV003954247
RCV003981651
RCV003951593
RCV003947267
Gastric cancer Benign rs61736579 RCV005928118
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alcoholism Associate 28981154
Coffin Siris syndrome Associate 34180430
Glioblastoma Associate 29373718
Glioma Associate 29373718
Leukemia Myeloid Acute Inhibit 28533407