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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Coffin-Siris syndrome 1 Pathogenic rs1555031372 RCV000664329
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Coffin-Siris syndrome 7 Pathogenic; Likely pathogenic rs2137711041, rs2137711145, rs2495413705, rs35405661, rs2495407169, rs1555031372, rs1555031500, rs1555032051, rs1555032044, rs1555032074 RCV001527371
RCV002221832
RCV002470268
RCV003148493
RCV003989273
View all (5 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Autism spectrum disorder Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COFFIN-SIRIS SYNDROME CTD, ClinGen, Disgenet, Orphanet
CTD, ClinGen, Disgenet, Orphanet
CTD, ClinGen, Disgenet, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Developmental disorder Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Blepharoptosis Ptosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Brachydactyly Brachydactyly HPO_DG
★☆☆☆☆
Found in Text Mining only
Cataract Cataract HPO_DG
★☆☆☆☆
Found in Text Mining only
Clinodactyly Clinodactyly HPO_DG
★☆☆☆☆
Found in Text Mining only
Clinodactyly of fingers Clinodactyly HPO_DG
★☆☆☆☆
Found in Text Mining only
Coffin-Siris syndrome Coffin-Siris Syndrome BEFREE 29429572, 31207137, 31706665
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Coffin-Siris syndrome Coffin-Siris Syndrome ORPHANET_DG 29429572
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Coffin-Siris syndrome Coffin-Siris Syndrome Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COFFIN-SIRIS SYNDROME 7 Coffin-Siris syndrome GENOMICS_ENGLAND_DG 29429572
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COFFIN-SIRIS SYNDROME 7 Coffin-Siris syndrome UNIPROT_DG 29429572
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)