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-sensitiv... See more...

Aliases for DIP2B Gene

Aliases for DIP2B Gene

  • Disco Interacting Protein 2 Homolog B 2 3 5
  • Disco-Interacting Protein 2 Homolog B 3 4
  • KIAA1463 2 4
  • DIP2 Disco-Interacting Protein 2 Homolog B (Drosophila) 2
  • DIP2 Disco-Interacting Protein 2 Homolog B 3
  • DIP2 Homolog B 4
  • FLJ34278 2
  • DIP2B 5

External Ids for DIP2B Gene

Previous GeneCards Identifiers for DIP2B Gene

  • GC12U900523
  • GC12P049187
  • GC12P050898
  • GC12P047931

Summaries for DIP2B Gene

Entrez Gene Summary 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 46,Xx Sex Reversal 3. Gene Ontology (GO) annotations related to this gene include transcription factor binding. An important paralog of this gene is DIP2C.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DIP2B Gene

Genomics for DIP2B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DIP2B 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 DIP2B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DIP2B

Top Transcription factor binding sites by QIAGEN in the DIP2B gene promoter:
  • Cdc5
  • FOXO1
  • FOXO1a
  • NRSF form 1
  • NRSF form 2
  • Oct-B1
  • oct-B2
  • oct-B3
  • POU2F1
  • SRY

Genomic Locations for DIP2B Gene

Genomic Locations for DIP2B Gene
chr12:50,504,985-50,748,657
(GRCh38/hg38)
Size:
243,673 bases
Orientation:
Plus strand
chr12:50,898,768-51,142,450
(GRCh37/hg19)
Size:
243,683 bases
Orientation:
Plus strand

Genomic View for DIP2B Gene

Genes around DIP2B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DIP2B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DIP2B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=EAW58149.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for DIP2B Gene

Post-translational modifications for DIP2B Gene

  • Ubiquitination at Lys47, Lys65, Lys276, Lys480, Lys714, Lys1300, and Lys1367
  • Modification sites at PhosphoSitePlus

Other Protein References for DIP2B Gene

ENSEMBL proteins:
REFSEQ proteins:

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:
  • AMP-binding signature
ProtoNet:

Suggested Antigen Peptide Sequences for DIP2B Gene

GenScript: Design optimal peptide antigens:
  • Disco-interacting protein 2 homolog B (DIP2B_HUMAN)
  • DIP2B protein (Q96IB4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9P265

UniProtKB/Swiss-Prot:

DIP2B_HUMAN :
  • Belongs to the DIP2 family.
Family:
  • Belongs to the DIP2 family.
genes like me logo Genes that share domains with DIP2B: view

Function for DIP2B Gene

Phenotypes From GWAS Catalog for DIP2B Gene

Gene Ontology (GO) - Molecular Function for DIP2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0003824 catalytic activity IEA --
genes like me logo Genes that share ontologies with DIP2B: view
genes like me logo Genes that share phenotypes with DIP2B: view

Human Phenotype Ontology for DIP2B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DIP2B Gene

MGI Knock Outs for DIP2B:
  • Dip2b Dip2b<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

miRNA for DIP2B Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DIP2B

No data available for Molecular function , Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for DIP2B Gene

Localization for DIP2B Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DIP2B gene
Compartment Confidence
nucleus 5
extracellular 4
plasma membrane 3
cytoskeleton 1
cytosol 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DIP2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 15531550
GO:0005737 cytoplasm IDA 15531550
GO:0016020 membrane HDA 19946888
GO:0070062 extracellular exosome HDA 20458337
genes like me logo Genes that share ontologies with DIP2B: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for DIP2B Gene

Pathways & Interactions for DIP2B Gene

PathCards logo

SuperPathways for DIP2B Gene

No Data Available

Gene Ontology (GO) - Biological Process for DIP2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with DIP2B: view

No data available for Pathways by source and SIGNOR curated interactions for DIP2B Gene

Drugs & Compounds for DIP2B Gene

No Compound Related Data Available

Transcripts for DIP2B Gene

mRNA/cDNA for DIP2B Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DIP2B

Alternative Splicing Database (ASD) splice patterns (SP) for DIP2B Gene

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:

Relevant External Links for DIP2B Gene

GeneLoc Exon Structure for
DIP2B

Expression for DIP2B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DIP2B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DIP2B Gene

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, MaxQB, and MOPED for DIP2B Gene



Protein tissue co-expression partners for DIP2B Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DIP2B

SOURCE GeneReport for Unigene cluster for DIP2B Gene:

Hs.505516

mRNA 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(4.3)
  • Skin(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DIP2B Gene

Germ Layers:
  • ectoderm
Systems:
  • nervous
Regions:
Head and neck:
  • brain
  • head
genes like me logo Genes that share expression patterns with DIP2B: view

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.

Orthologs for DIP2B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DIP2B 30 31
  • 99.58 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 98 (a)
OneToMany
-- 31
  • 97 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia DIP2B 30 31
  • 93.42 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 93 (a)
OneToMany
-- 31
  • 91 (a)
OneToMany
-- 31
  • 61 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia DIP2B 30 31
  • 92.04 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Dip2b 30 17 31
  • 89.11 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dip2b 30
  • 88.39 (n)
Chicken
(Gallus gallus)
Aves DIP2B 30 31
  • 82.71 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DIP2B 31
  • 89 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dip2b 30
  • 77.13 (n)
Zebrafish
(Danio rerio)
Actinopterygii DIP2B (2 of 2) 31
  • 78 (a)
OneToMany
dip2ba 30 31
  • 72.04 (n)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta DIP2 31
  • 50 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea F28B3.1 31
  • 52 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 31
  • 20 (a)
OneToMany
CMR2 33
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.49 31
  • 52 (a)
OneToMany
Species where no ortholog for DIP2B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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 DIP2B Gene

ENSEMBL:
Gene Tree for DIP2B (if available)
TreeFam:
Gene Tree for DIP2B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DIP2B: view image

Paralogs for DIP2B Gene

Paralogs for DIP2B Gene

(3) SIMAP similar genes for DIP2B Gene using alignment to 3 proteins:

  • DIP2B_HUMAN
  • H0YIU5_HUMAN
  • Q96IB4_HUMAN
genes like me logo Genes that share paralogs with DIP2B: view

Variants for DIP2B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DIP2B Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
715520 Benign: not provided 50,732,429(+) G/A MISSENSE_VARIANT
722129 Likely Benign: not provided 50,697,134(+) G/A SYNONYMOUS_VARIANT
725615 Likely Benign: not provided 50,714,427(+) T/C SYNONYMOUS_VARIANT
726087 Benign: not provided 50,739,564(+) C/T SYNONYMOUS_VARIANT
731362 Benign: not provided 50,626,019(+) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for DIP2B Gene

Structural Variations from Database of Genomic Variants (DGV) for DIP2B Gene

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

Variation tolerance for DIP2B Gene

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

Human Gene Mutation Database (HGMD)
DIP2B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DIP2B

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DIP2B Gene

Disorders for DIP2B Gene

MalaCards: The human disease database

(2) MalaCards diseases for DIP2B Gene - From: OMIM, ClinVar, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, fra12a type
  • fra12a mental retardation
46,xx sex reversal 3
  • srxx3
- elite association - COSMIC cancer census association via MalaCards
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
Open Targets Platform
genes like me logo Genes that share disorders with DIP2B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DIP2B Gene

Publications for DIP2B Gene

  1. 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) 2 3 4
  2. 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 41
  3. 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 41
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. 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

Products for DIP2B Gene

Sources for DIP2B Gene