Aliases for ZDBF2 Gene
Aliases for ZDBF2 Gene
External Ids for ZDBF2 Gene
- HGNC: 29313
- Entrez Gene: 57683
- Ensembl: ENSG00000204186
- OMIM: 617059
- UniProtKB: Q9HCK1
Previous GeneCards Identifiers for ZDBF2 Gene
- GC02P206848
- GC02P207139
- GC02P198990
Summaries for ZDBF2 Gene
-
This gene encodes a protein containing DBF4-type zinc finger domains. This gene is imprinted and paternally expressed in lymphocytes but is more stochastically expressed in the placenta. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]
GeneCards Summary for ZDBF2 Gene
ZDBF2 (Zinc Finger DBF-Type Containing 2) is a Protein Coding gene. Diseases associated with ZDBF2 include Nasopalpebral Lipoma-Coloboma Syndrome and Coloboma Of Macula. Gene Ontology (GO) annotations related to this gene include nucleic acid binding.
No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZDBF2 Gene
Genomics for ZDBF2 Gene
GeneHancer (GH) Regulatory Elements for ZDBF2 Gene
Promoters and enhancers for ZDBF2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around ZDBF2 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for ZDBF2 Gene
Genomic Locations for ZDBF2 Gene
- chr2:206,274,641-206,314,438
- (GRCh38/hg38)
- Size:
- 39,798 bases
- Orientation:
- Plus strand
- chr2:207,139,387-207,179,148
- (GRCh37/hg19)
Genomic View for ZDBF2 Gene
Genes around ZDBF2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2q33.3 by Ensembl
- 2q33.3 by Entrez Gene
- 2q33.3 by HGNC
ZDBF2 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 ZDBF2 Gene
Proteins for ZDBF2 Gene
-
Protein details for ZDBF2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9HCK1-ZDBF2_HUMAN
- Recommended name:
- DBF4-type zinc finger-containing protein 2
- Protein Accession:
- Q9HCK1
- Q6ZNP7
- Q6ZSN8
Protein attributes for ZDBF2 Gene
- Size:
- 2354 amino acids
- Molecular mass:
- 265618 Da
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=BAC85454.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for ZDBF2 Gene
Post-translational modifications for ZDBF2 Gene
- Ubiquitination at isoforms=2133
Other Protein References for ZDBF2 Gene
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Assay Products
No data available for DME Specific Peptides for ZDBF2 Gene
Domains & Families for ZDBF2 Gene
Gene Families for ZDBF2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Suggested Antigen Peptide Sequences for ZDBF2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for ZDBF2 Gene
Function for ZDBF2 Gene
Phenotypes From GWAS Catalog for ZDBF2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003676 | nucleic acid binding | IEA | -- |
| GO:0008270 | zinc ion binding | IEA | -- |
| GO:0046872 | metal ion binding | IEA | -- |
Phenotypes for ZDBF2 Gene
- GenomeRNAi human phenotypes for ZDBF2:
Animal Model Products
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CRISPR Products
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-
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miRNA for ZDBF2 Gene
- miRTarBase miRNAs that target ZDBF2
-
- hsa-mir-493-5p (MIRT439240)
- hsa-mir-7847-3p (MIRT681042)
- hsa-mir-6880-5p (MIRT681043)
- hsa-mir-4792 (MIRT681044)
- hsa-mir-6799-5p (MIRT681045)
- hsa-mir-6851-5p (MIRT681046)
- hsa-mir-3689d (MIRT681047)
- hsa-mir-4746-3p (MIRT681048)
- hsa-mir-6086 (MIRT681049)
- hsa-mir-377-5p (MIRT681050)
- hsa-mir-6134 (MIRT681051)
- hsa-mir-610 (MIRT681052)
- hsa-mir-1247-3p (MIRT681053)
- hsa-mir-148a-5p (MIRT681054)
miRNA Products
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Cell Line Products
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No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ZDBF2 Gene
Localization for ZDBF2 Gene
| Compartment | Confidence |
|---|---|
| nucleus | 4 |
| cytosol | 3 |
| plasma membrane | 2 |
- Nucleoplasm (4)
- Cytosol (2)
No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for ZDBF2 Gene
Pathways & Interactions for ZDBF2 Gene
No Data Available
No data available for Pathways by source and SIGNOR curated interactions for ZDBF2 Gene
Transcripts for ZDBF2 Gene
mRNA/cDNA for ZDBF2 Gene
- (14) REFSEQ mRNAs :
- (4) Additional mRNA sequences :
- (39) Selected AceView cDNA sequences:
- (2) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for ZDBF2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for ZDBF2
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-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ZDBF2
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Inhibitory RNA Products
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Clone Products
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-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for ZDBF2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Pancreas (Endocrine System)
- Endocrine Progenitor Cells Dorsal Pancreatic Bud
- Bipotent Endocrine/Duct Progenitor Cells Dorsal Pancreatic Bud
- Endocrine Progenitor Cells Ventral Pancreatic Bud
- Bipotent Endocrine/Duct Progenitor Cells Ventral Pancreatic Bud
-
Epithelial Cells
- Endocrine Progenitor Cells Dorsal Pancreatic Bud
- Bipotent Endocrine/Duct Progenitor Cells Dorsal Pancreatic Bud
- Endocrine Progenitor Cells Ventral Pancreatic Bud
- Bipotent Endocrine/Duct Progenitor Cells Ventral Pancreatic Bud
-
Heart (Cardiovascular System)
- Cardiac Fibroblasts Myocardium
-
Fibroblasts
- Cardiac Fibroblasts Myocardium
-
Blood (Hematopoietic System)
- Hematopoietic Stem Cells Hematopoietic Bone Marrow
This gene is overexpressed in Fetal testis (25.2), Oral epithelium (13.0), Heart (10.1), and Fetal heart (8.6).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ZDBF2 Gene
NURSA nuclear receptor signaling pathways regulating expression of ZDBF2 Gene:
ZDBF2SOURCE GeneReport for Unigene cluster for ZDBF2 Gene:
Hs.110489Evidence on tissue expression from TISSUES for ZDBF2 Gene
- Nervous system(4.2)
Primer Products
-
OriGene qPCR primer pairs for ZDBF2
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No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ZDBF2 Gene
Orthologs for ZDBF2 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ZDBF2 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | ZDBF2 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | ZDBF2 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Zdbf2 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Zdbf2 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | ZDBF2 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | ZDBF2 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ZDBF2 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany |
- Species where no ortholog for ZDBF2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- 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)
- fruit fly (Drosophila melanogaster)
- 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 squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- 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)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
- zebrafish (Danio rerio)
Paralogs for ZDBF2 Gene
No data available for Paralogs for ZDBF2 Gene
Variants for ZDBF2 Gene
| SNP ID | Clin | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs763186071 | uncertain-significance, Ductal breast carcinoma | 206,310,323(+) | G/A | coding_sequence_variant, missense_variant | |
| rs879255650 | uncertain-significance, not provided, Nasopalpebral lipoma coloboma syndrome | 206,310,774(+) | TTTT/TTTTTT | coding_sequence_variant, frameshift, intron_variant | |
| rs1000051241 | -- | 206,281,579(+) | C/T | genic_upstream_transcript_variant, intron_variant | |
| rs1000226743 | -- | 206,287,251(+) | G/C | genic_upstream_transcript_variant, intron_variant | |
| rs1000237744 | -- | 206,280,943(+) | A/G | genic_upstream_transcript_variant, intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3451203 | CNV | insertion | 20981092 |
| nsv834516 | CNV | gain | 17160897 |
Residual Variation Intolerance Score:
92.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.67;
65.92% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ZDBF2 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZDBF2 Gene
Disorders for ZDBF2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| nasopalpebral lipoma-coloboma syndrome |
|
|
| coloboma of macula |
|
|
Search ZDBF2 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for ZDBF2
No data available for UniProtKB/Swiss-Prot and Genatlas for ZDBF2 Gene
Publications for ZDBF2 Gene
- Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10997877) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4 58
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
- Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
- Exome sequencing identifies a de novo frameshift mutation in the imprinted gene ZDBF2 in a sporadic patient with Nasopalpebral Lipoma-coloboma syndrome. (PMID: 27139419) Chacón-Camacho OF … Zenteno JC (American journal of medical genetics. Part A 2016) 3 58
- The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58
Products for ZDBF2 Gene
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Sources for ZDBF2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
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- (128) ViGene Biosciences
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- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew