Aliases for DIP2B Gene
Aliases for DIP2B Gene
External Ids for DIP2B Gene
- HGNC: 29284
- Entrez Gene: 57609
- Ensembl: ENSG00000066084
- OMIM: 611379
- UniProtKB: Q9P265
Previous GeneCards Identifiers for DIP2B Gene
- GC12U900523
- GC12P049187
- GC12P050898
- GC12P047931
Summaries for DIP2B Gene
-
This gene encodes a member of the disco-interacting protein homolog 2 protein family. The encoded protein contains a binding site for the transcriptional regulator DNA methyltransferase 1 associated protein 1 as well as AMP-binding sites. The presence of these sites suggests that the encoded protein may participate in DNA methylation. This gene is located near a folate-sensitive fragile site, and CGG-repeat expansion in the promoter of this gene which affects transcription has been detected in individuals containing this fragile site on chromosome 12. [provided by RefSeq, Aug 2011]
GeneCards Summary for DIP2B Gene
DIP2B (Disco Interacting Protein 2 Homolog B) is a Protein Coding gene. Diseases associated with DIP2B include Mental Retardation, Fra12a Type and X-Linked Hereditary Ataxia. Gene Ontology (GO) annotations related to this gene include transcription factor binding. An important paralog of this gene is DIP2C.
Additional gene information for DIP2B Gene
- Monarch Initiative
- Search for DIP2B at DataMed
- Search for DIP2B at HumanCyc
No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DIP2B Gene
Genomics for DIP2B Gene
GeneHancer (GH) Regulatory Elements for DIP2B Gene
Promoters and enhancers for DIP2B Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around DIP2B on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the DIP2B gene promoter:
Regulatory Element Products
Genomic Locations for DIP2B Gene
Genomic Locations for DIP2B Gene
- chr12:50,504,985-50,748,667
- (GRCh38/hg38)
- Size:
- 243,683 bases
- Orientation:
- Plus strand
- chr12:50,898,768-51,142,450
- (GRCh37/hg19)
Genomic View for DIP2B Gene
Genes around DIP2B on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12q13.12 by Ensembl
- 12q13.12 by Entrez Gene
- 12q13.12 by HGNC
DIP2B 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 DIP2B Gene
Proteins for DIP2B Gene
-
Protein details for DIP2B Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9P265-DIP2B_HUMAN
- Recommended name:
- Disco-interacting protein 2 homolog B
- Protein Accession:
- Q9P265
- Q6B011
- Q8N1L5
- Q8NB38
Protein attributes for DIP2B Gene
- Size:
- 1576 amino acids
- Molecular mass:
- 171492 Da
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=AAH75027.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence.; Evidence={ECO:0000305}; Sequence=BAC03705.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence.; Evidence={ECO:0000305}; Sequence=BAC05025.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=EAW58149.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
Protein Expression for DIP2B Gene
Post-translational modifications for DIP2B Gene
Other Protein References for DIP2B Gene
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-
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Assay Products
No data available for DME Specific Peptides for DIP2B Gene
Domains & Families for DIP2B Gene
Gene Families for DIP2B Gene
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for DIP2B Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for DIP2B Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9P265- Family:
-
- Belongs to the DIP2 family.
Function for DIP2B Gene
Phenotypes From GWAS Catalog for DIP2B Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003674 | molecular_function | ND | -- |
| GO:0003824 | catalytic activity | IEA | -- |
Phenotypes for DIP2B Gene
- MGI mutant phenotypes for DIP2B:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for DIP2B:
Animal Models for DIP2B Gene
- MGI Knock Outs for DIP2B:
-
- Dip2b tm1a(EUCOMM)Wtsi
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-
-
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-
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miRNA for DIP2B Gene
- miRTarBase miRNAs that target DIP2B
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-
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- Mammalian expression: PiggyBac
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- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
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No data available for Molecular function , Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for DIP2B Gene
Localization for DIP2B Gene
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| nucleus | 5 |
| plasma membrane | 3 |
| cytosol | 2 |
| peroxisome | 1 |
- Endoplasmic reticulum (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IDA | 15531550 |
| GO:0005737 | cytoplasm | IDA | 15531550 |
| GO:0016020 | membrane | IDA,HDA | 19946888 |
| GO:0070062 | extracellular exosome | HDA,IDA | 20458337 |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for DIP2B Gene
Pathways & Interactions for DIP2B Gene
No Data Available
Interacting Proteins for DIP2B Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0008150 | biological_process | ND | -- |
| GO:0008152 | metabolic process | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for DIP2B Gene
Transcripts for DIP2B Gene
mRNA/cDNA for DIP2B Gene
- (15) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for DIP2B Gene
CRISPR Products
-
OriGene CRISPR knockouts for DIP2B
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-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for DIP2B
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miRNA Products
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Inhibitory RNA Products
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-
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Clone Products
- VectorBuilder custom plasmid, inducible vectors for DIP2B
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available DIP2B gene related products
- orf clones - Search results for available DIP2B gene related products
- Applied Biological Materials Clones for DIP2B
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - |
| ExUns: | 26 | ^ | 27 | ^ | 28 | ^ | 29a | · | 29b |
|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||
| SP2: |
Expression for DIP2B Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
This gene is overexpressed in Cervix (19.4), Breast (10.0), and Frontal cortex (6.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DIP2B Gene
NURSA nuclear receptor signaling pathways regulating expression of DIP2B Gene:
DIP2BSOURCE GeneReport for Unigene cluster for DIP2B Gene:
Hs.505516mRNA Expression by UniProt/SwissProt for DIP2B Gene:
Q9P265-DIP2B_HUMAN
Tissue specificity:
Moderately expressed in adult brain, placenta, skeletal muscle, heart, kidney, pancreas, lung, spleen and colon. Expression was weaker in adult liver, kidney, spleen, and ovary, and in fetal brain and liver. In the brain, it is expressed in the cerebral cortex; the frontal, parietal, occipital and temporal lobes; the paracentral gyrus; the pons; the corpus callosum and the hippocampus. Highest expression levels in the brain were found in the cerebral cortex and the frontal and parietal lobes.
Evidence on tissue expression from TISSUES for DIP2B Gene
- Nervous system(4.6)
- Liver(4.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for DIP2B Gene
Germ Layers:
- ectoderm
Systems:
- nervous
Regions:
Head and neck:
- brain
- head
Primer Products
-
OriGene qPCR primer pairs for DIP2B
- genomics-online: primer clones - Search results for available DIP2B gene related products
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues for DIP2B Gene
Orthologs for DIP2B Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | DIP2B 33 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| dog (Canis familiaris) |
Mammalia | DIP2B 33 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| cow (Bos Taurus) |
Mammalia | DIP2B 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Dip2b 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Dip2b 33 |
|
||
| chicken (Gallus gallus) |
Aves | DIP2B 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | DIP2B 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | dip2b 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | DIP2B (2 of 2) 34 |
|
OneToMany | |
| dip2ba 33 34 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | DIP2 34 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | F28B3.1 34 |
|
OneToMany | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | -- 34 |
|
OneToMany | |
| CMR2 36 |
|
|
|||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.49 34 |
|
OneToMany |
- Species where no ortholog for DIP2B 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)
- 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)
Paralogs for DIP2B Gene
(3) SIMAP similar genes for DIP2B Gene using alignment to 3 proteins:
Variants for DIP2B Gene
| SNP ID | Clin | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs117722674 | likely-benign, not provided | 50,678,822(+) | T/C | coding_sequence_variant, missense_variant | |
| rs73093419 | likely-benign, not provided | 50,674,626(+) | G/A | coding_sequence_variant, missense_variant | |
| rs1006854230 | uncertain-significance, not provided | 50,678,760(+) | G/A/C | coding_sequence_variant, missense_variant | |
| rs151181050 | uncertain-significance, not specified | 50,714,500(+) | C/A | coding_sequence_variant, missense_variant | |
| rs1000016591 | -- | 50,609,165(+) | G/A | intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv2619n54 | CNV | loss | 21841781 |
| dgv2620n54 | CNV | loss | 21841781 |
| dgv2621n54 | CNV | loss | 21841781 |
| dgv289n67 | CNV | loss | 20364138 |
| esv1512829 | CNV | deletion | 17803354 |
| esv2678706 | CNV | deletion | 23128226 |
| esv2745873 | CNV | deletion | 23290073 |
| esv27734 | CNV | loss | 19812545 |
| esv3400 | CNV | loss | 18987735 |
| esv3549195 | CNV | deletion | 23714750 |
| esv3629484 | CNV | loss | 21293372 |
| esv9262 | CNV | loss | 19470904 |
| nsv1068680 | CNV | deletion | 25765185 |
| nsv1069664 | CNV | deletion | 25765185 |
| nsv1113481 | CNV | deletion | 24896259 |
| nsv476740 | CNV | novel sequence insertion | 20440878 |
| nsv558842 | CNV | loss | 21841781 |
| nsv558850 | CNV | loss | 21841781 |
Residual Variation Intolerance Score:
1.04% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.04;
60.56% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for DIP2B Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DIP2B Gene
Disorders for DIP2B Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| mental retardation, fra12a type |
|
|
| x-linked hereditary ataxia |
|
|
| fragile x-associated tremor/ataxia syndrome |
|
|
Search DIP2B in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for DIP2B
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for DIP2B Gene
Publications for DIP2B Gene
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
- Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33. (PMID: 20972440) Houlston RS … Tomlinson IP (Nature genetics 2010) 3 44 58
- CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1. (PMID: 17236128) Winnepenninckx B … Kooy RF (American journal of human genetics 2007) 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
- Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10819331) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 3 4 58
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 8 available DIP2B Antibodies ranked by validation data
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Sources for DIP2B 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
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