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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 candidat... See more...
Aliases for DPF2 Gene
Aliases for DPF2 Gene
External Ids for DPF2 Gene
- HGNC: 9964
- Entrez Gene: 5977
- Ensembl: ENSG00000133884
- OMIM: 601671
- UniProtKB: Q92785
Previous HGNC Symbols for DPF2 Gene
- REQ
Previous GeneCards Identifiers for DPF2 Gene
- GC11P064876
- GC11P064858
- GC11P065103
- GC11P061428
Summaries for DPF2 Gene
-
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]
GeneCards Summary for DPF2 Gene
DPF2 (Double PHD Fingers 2) is a Protein Coding gene. Diseases associated with DPF2 include Coffin-Siris Syndrome 7 and Coffin-Siris Syndrome 1. Gene Ontology (GO) annotations related to this gene include RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is DPF1.
UniProtKB/Swiss-Prot Summary for DPF2 Gene
-
Plays an active role in transcriptional regulation by binding modified histones H3 and H4 (PubMed:28533407, PubMed:27775714). Is a negative regulator of myeloid differentiation of hematopoietic progenitor cells (PubMed:28533407). Might also have a role in the development and maturation of lymphoid cells (By similarity). Involved in the regulation of non-canonical NF-kappa-B pathway (PubMed:20460684).
Additional gene information for DPF2 Gene
- HGNC(9964)
- Entrez Gene(5977)
- Ensembl(ENSG00000133884)
- OMIM(601671)
- UniProtKB(Q92785)
- Open Targets Platform(ENSG00000133884)
- Search for DPF2 at DataMed
- Search for DPF2 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DPF2 Gene
Genomics for DPF2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for DPF2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around DPF2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DPF2
- Top Transcription factor binding sites by QIAGEN in the DPF2 gene promoter:
-
- AML1a
- Elk-1
- IRF-2
- LCR-F1
- NRF-2
- SEF-1 (1)
- Sox5
- Sp1
- STAT5A
Genomic Locations for DPF2 Gene
Genomic Locations for DPF2 Gene
- chr11:65,333,840-65,354,262
- (GRCh38/hg38)
- Size:
- 20,423 bases
- Orientation:
- Plus strand
- chr11:65,101,225-65,120,720
- (GRCh37/hg19)
- Size:
- 19,496 bases
- Orientation:
- Plus strand
Genomic View for DPF2 Gene
Genes around DPF2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11q13.1 by HGNC
- 11q13.1 by Entrez Gene
- 11q13.1 by Ensembl
DPF2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for DPF2 Gene
Proteins for DPF2 Gene
-
Protein details for DPF2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q92785-REQU_HUMAN
- Recommended name:
- Zinc finger protein ubi-d4
- Protein Accession:
- Q92785
- A8K7C9
- B4DT58
Protein attributes for DPF2 Gene
- Size:
- 391 amino acids
- Molecular mass:
- 44155 Da
- Quaternary structure:
-
- Interacts with the nucleosomes, in particular nucleosomes bearing histone H3 crotonylated at 'Lys-14' (H3K14cr) for which DPF2 has high affinity (PubMed:27775714). Also interacts (via PHD-type zinc finger domains) with histone H3 butyrylated at 'Lys-14' (H3K14bu), histone H3 propionylated at 'Lys-14' (H3K14pr), and histone H3 acetylated at 'Lys-14' (H3K14ac) (PubMed:29429572, PubMed:28533407, PubMed:27775714). Interacts with histone H3 acetylated at 'Lys-9' (H3K9ac), histone H3 di-methylated at 'Lys-9' (H3K9me2), and histone H3 tri-methylated at 'Lys-9' (H3K9me3) (PubMed:29429572). Interacts with histone H4 acetylated at 'Lys-12' (H4K12ac) (PubMed:29429572). Interacts with histone H4 acetylated at 'Lys-16' (H4K16ac) (PubMed:28533407). Interacts with SWI/SNF complex components (PubMed:20460684, PubMed:28533407). Interacts with SMARCA2, SMARCA4, SMARCB1 and SMARCD1 (PubMed:20460684). Interacts with SMARCC1, SMARCC2 and ACTL6A (PubMed:28533407). Interacts with RUNX1 (PubMed:28533407).
Three dimensional structures from OCA and Proteopedia for DPF2 Gene
Protein Expression for DPF2 Gene
Post-translational modifications for DPF2 Gene
Other Protein References for DPF2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences Requiem / DPF2 Monoclonal Antibody and Requiem / DPF2 Antibody
- G Biosciences Immunotag™ REQU Antibody
- Creative Diagnostics Anti-DPF2 (aa 56-155) polyclonal antibody
-
Custom Antibody ServicesOriGene Antibodies for DPF2
- Novus Biologicals Antibodies for DPF2
-
Abcam antibodies for DPF2
- Invitrogen Antibodies for DPF2 (AFLGC-Dpf2)
- antibodies-online: Show 24 available DPF2 Antibodies ranked by validation data
-
Custom Antibody ServicesProSci Antibodies for DPF2
-
Santa Cruz Biotechnology (SCBT) Antibodies for DPF2
- Sino Biological Antibodies for DPF2
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for DPF2
- Origene Custom Protein Services for DPF2
- antibodies-online: Search results for available DPF2 related products ranked by validation data
-
Signalway Proteins for DPF2
-
Abcam proteins for DPF2
Assay Products
- antibodies-online: Search results for available DPF2 related products ranked by validation data
-
Boster Bio ELISA Kits for DPF2
No data available for DME Specific Peptides for DPF2 Gene
Domains & Families for DPF2 Gene
Gene Families for DPF2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for DPF2 Gene
- InterPro:
- Blocks:
-
- Zn-finger, RING
- Zn-finger-like, PHD finger
- ProtoNet:
Suggested Antigen Peptide Sequences for DPF2 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ54147, highly similar to Zinc-finger protein ubi-d4 (B4DT58_HUMAN)
- Protein requiem (REQU_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q92785- Family:
-
- Belongs to the requiem/DPF family.
Function for DPF2 Gene
Molecular function for DPF2 Gene
- UniProtKB/Swiss-Prot Function:
- Plays an active role in transcriptional regulation by binding modified histones H3 and H4 (PubMed:28533407, PubMed:27775714). Is a negative regulator of myeloid differentiation of hematopoietic progenitor cells (PubMed:28533407). Might also have a role in the development and maturation of lymphoid cells (By similarity). Involved in the regulation of non-canonical NF-kappa-B pathway (PubMed:20460684).
Phenotypes From GWAS Catalog for DPF2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | HDA | 16217013 |
| GO:0003676 | nucleic acid binding | IEA | -- |
| GO:0003714 | transcription corepressor activity | TAS | 28533407 |
| GO:0004402 | histone acetyltransferase activity | IBA | 21873635 |
| GO:0005515 | protein binding | IPI | 25416956 |
Phenotypes for DPF2 Gene
- MGI mutant phenotypes for DPF2:
-
inferred from 2 alleles
- normal phenotype
- cardiovascular system phenotype
- mortality/aging
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- renal/urinary system phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- limbs/digits/tail phenotype
- integument phenotype
- embryo phenotype
- craniofacial phenotype
- GenomeRNAi human phenotypes for DPF2:
-
- Increased vaccinia virus (VACV) infection
- Mildly decreased CFP-tsO45G cell surface transport
- no effect
- Increased cell death HMECs cells
- Resistant to vaccinia virus (VACV-A4L) infection
- Decreased vaccinia virus (VACV) infection
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Increased Nanog expression
- Increased shRNA abundance (Z-score > 2)
- Increased viability with MLN4924 (a NAE inhibitor)
- Decreased shRNA abundance (Z-score < -2)
- Downregulation of RLR pathway after Sendai virus (SeV) infection
- Increased nuclear migration speed
- Decreased replication of vaccinia virus (VACV)
Animal Models for DPF2 Gene
- MGI Knock Outs for DPF2:
-
- Dpf2 Dpf2<tm1b(EUCOMM)Hmgu>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for DPF2 - Select products 50% OFF >
- * DPF2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for DPF2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DPF2
-
Santa Cruz Biotechnology (SCBT) CRISPR for DPF2
miRNA for DPF2 Gene
- miRTarBase miRNAs that target DPF2
-
- hsa-miR-124-3p (MIRT022792)
- hsa-let-7b-5p (MIRT032431)
- hsa-miR-10b-5p (MIRT439128)
- hsa-miR-5006-3p (MIRT615251)
- hsa-miR-4755-5p (MIRT615252)
- hsa-miR-4642 (MIRT615253)
- hsa-miR-211-5p (MIRT615254)
- hsa-miR-204-5p (MIRT615255)
- hsa-miR-623 (MIRT615256)
- hsa-miR-670-5p (MIRT615257)
- hsa-miR-642b-5p (MIRT615258)
- hsa-miR-5588-5p (MIRT615259)
- hsa-miR-4799-3p (MIRT615260)
- hsa-miR-4720-5p (MIRT615261)
- hsa-miR-6868-5p (MIRT615262)
- hsa-miR-3128 (MIRT615263)
- hsa-miR-6734-3p (MIRT615264)
- hsa-miR-5088-3p (MIRT615265)
- hsa-miR-6752-3p (MIRT615266)
- hsa-miR-3126-3p (MIRT615267)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for DPF2
- Browse OriGene Inhibitory RNA Products For DPF2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DPF2
Clone Products
- Applied Biological Materials (abm): Clones for DPF2 - Select products 50% OFF >
- * DPF2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for DPF2
- Addgene plasmids for DPF2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DPF2
Cell Line Products
-
Horizon Cell Lines for DPF2
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for DPF2 Gene
Localization for DPF2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for DPF2 Gene
- Nucleus. Cytoplasm.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| cytoskeleton | 4 |
| plasma membrane | 1 |
| extracellular | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000123 | histone acetyltransferase complex | IBA | 21873635 |
| GO:0000790 | nuclear chromatin | IDA | 28533407 |
| GO:0005634 | nucleus | IBA,IDA | 29429572 |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
Pathways & Interactions for DPF2 Gene
Interacting Proteins for DPF2 Gene
Selected Interacting proteins:
Q92785-REQU_HUMAN
ENSP00000436901
for DPF2 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for DPF2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | TAS | 28533407 |
| GO:0006325 | chromatin organization | IEA | -- |
| GO:0006915 | apoptotic process | TAS | 8812431 |
| GO:0007399 | nervous system development | IBA | 21873635 |
| GO:0016573 | histone acetylation | IEA | -- |
No data available for Pathways by source for DPF2 Gene
Transcripts for DPF2 Gene
mRNA/cDNA for DPF2 Gene
- 2 REFSEQ mRNAs :
- 15 NCBI additional mRNA sequence :
- 12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000528416 3714 nts (view in UCSC)
- ENST00000444314 940 nts (view in UCSC)
- ENST00000415073 2085 nts (view in UCSC)
- ENST00000530993 624 nts (view in UCSC)
- ENST00000252268 2462 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for DPF2 - Select products 50% OFF >
- * DPF2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for DPF2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DPF2
-
Santa Cruz Biotechnology (SCBT) CRISPR for DPF2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for DPF2
- Browse OriGene Inhibitory RNA Products For DPF2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DPF2
Clone Products
- Applied Biological Materials (abm): Clones for DPF2 - Select products 50% OFF >
- * DPF2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for DPF2
- Addgene plasmids for DPF2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DPF2
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | · | 5c | ^ | 6a | · | 6b | ^ | 7a | · | 7b | · | 7c | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | ||||||||||||||||||||||||||||||||||
| SP3: | - | ||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | |||||||||||||||||||||||||||||||||
| SP5: |
Relevant External Links for DPF2 Gene
- GeneLoc Exon Structure for
- DPF2
Expression for DPF2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Neural Tube (Nervous System)
-
Ovary (Reproductive System)
This gene is overexpressed in Peripheral blood mononuclear cells (24.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DPF2 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DPF2
SOURCE GeneReport for Unigene cluster for DPF2 Gene:
Hs.13495mRNA Expression by UniProt/SwissProt for DPF2 Gene:
Q92785-REQU_HUMAN
Tissue specificity:
Ubiquitous.
Evidence on tissue expression from TISSUES for DPF2 Gene
- Nervous system(4.6)
- Liver(4.4)
- Muscle(2.8)
- Skin(2.8)
- Blood(2.4)
- Intestine(2.4)
- Heart(2.4)
- Kidney(2.2)
- Lung(2.1)
Primer Products
-
OriGene qPCR primer pairs for DPF2
-
OriGene qPCR primer pairs and template standards for DPF2
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for DPF2 Gene
Orthologs for DPF2 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | DPF2 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | DPF2 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | DPF2 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | DPF2 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Dpf2 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Dpf2 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | DPF2 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | DPF2 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | dpf2 30 |
|
||
| Str.10851 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | req-A 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | dpf2l 31 |
|
OneToMany | |
| dpf2 30 31 |
|
OneToMany | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | d4 31 |
|
ManyToMany | |
| tth 31 |
|
ManyToMany | |||
| Worm (Caenorhabditis elegans) |
Secernentea | dpff-1 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.12010 30 |
|
- Species where no ortholog for DPF2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for DPF2 Gene
- ENSEMBL:
- Gene Tree for DPF2 (if available)
- TreeFam:
- Gene Tree for DPF2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for DPF2: view image
Paralogs for DPF2 Gene
(2) SIMAP similar genes for DPF2 Gene using alignment to 5 proteins:
- REQU_HUMAN
- B4DT58_HUMAN
- E9PN04_HUMAN
- H0YEI1_HUMAN
- J3KMZ8_HUMAN
Pseudogenes.org Pseudogenes for DPF2 Gene
Variants for DPF2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DPF2 Gene
| SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1555031372 | Pathogenic: COFFIN-SIRIS SYNDROME 7; Coffin-Siris syndrome 1. Coffin-Siris syndrome 7 (CSS7) [MIM:618027] | 65,345,981(+) | G/Tp.Cys276Phe | MISSENSE_VARIANT | |
| rs1555031500 | Pathogenic: COFFIN-SIRIS SYNDROME 7. Coffin-Siris syndrome 7 (CSS7) [MIM:618027] | 65,346,332(+) | C/Gp.Cys330Trp | MISSENSE_VARIANT | |
| rs1555032044 | Pathogenic: COFFIN-SIRIS SYNDROME 7. Coffin-Siris syndrome 7 (CSS7) [MIM:618027] | 65,348,869(+) | A/Gp.Asp346Gly | MISSENSE_VARIANT | |
| rs1555032051 | Pathogenic: COFFIN-SIRIS SYNDROME 7. Coffin-Siris syndrome 7 (CSS7) [MIM:618027] | 65,348,881(+) | G/Ap.Arg350His | MISSENSE_VARIANT | |
| rs1555032074 | Pathogenic: COFFIN-SIRIS SYNDROME 7 | 65,348,932(+) | G/A | SPLICE_DONOR_VARIANT |
Residual Variation Intolerance Score:
17.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.16;
3.63% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for DPF2 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- DPF2
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DPF2 Gene
Disorders for DPF2 Gene
(9) MalaCards diseases for DPF2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| coffin-siris syndrome 7 |
|
|
| coffin-siris syndrome 1 |
|
|
| multiple endocrine neoplasia |
|
|
| flinders island spotted fever |
|
|
| hemopneumothorax |
|
|
Search DPF2 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
REQU_HUMAN- Coffin-Siris syndrome 7 (CSS7) [MIM:618027]: A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported. CSS7 inheritance is autosomal dominant. {ECO:0000269 PubMed:29429572}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for DPF2
No data available for Genatlas for DPF2 Gene
Publications for DPF2 Gene
- Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome. (PMID: 29429572) Vasileiou G … Reis A (American journal of human genetics 2018) 3 4
- Histone-binding of DPF2 mediates its repressive role in myeloid differentiation. (PMID: 28533407) Huber FM … Hoelz A (Proceedings of the National Academy of Sciences of the United States of America 2017) 3 4
- Selective recognition of histone crotonylation by double PHD fingers of MOZ and DPF2. (PMID: 27775714) Xiong X … Li H (Nature chemical biology 2016) 3 4
- Crystal structure of the Cys2His2-type zinc finger domain of human DPF2. (PMID: 21888896) Zhang W … Qi C (Biochemical and biophysical research communications 2011) 3 4
- Requiem protein links RelB/p52 and the Brm-type SWI/SNF complex in a noncanonical NF-kappaB pathway. (PMID: 20460684) Tando T … Iba H (The Journal of biological chemistry 2010) 3 4
ExternalLinks
Products for DPF2 Gene
- Custom Antibody ServicesOriGene Antibodies for DPF2
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for DPF2
- Origene Custom Protein Services for DPF2
- Origene shrna, sirna, and RNAi products in human, mouse, rat for DPF2
- Browse OriGene Inhibitory RNA Products For DPF2
- OriGene qPCR primer pairs for DPF2
- OriGene qPCR primer pairs and template standards for DPF2
- OriGene CRISPR knockouts for DPF2