Human Gene DIP2B (uc009zlt.3)
  Description: Homo sapiens DIP2 disco-interacting protein 2 homolog B (Drosophila) (DIP2B), mRNA.
RefSeq Summary (NM_173602): 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].
Transcript (Including UTRs)
   Position: hg19 chr12:51,079,616-51,142,450 Size: 62,835 Total Exon Count: 27 Strand: +
Coding Region
   Position: hg19 chr12:51,086,788-51,138,622 Size: 51,835 Coding Exon Count: 25 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:51,079,616-51,142,450)mRNA (may differ from genome)Protein (1006 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblExonPrimerGeneCardsGeneNetwork
H-INVHGNCLynxMalacardsMGIneXtProt
PubMedTreefamUniProtKB

-  Comments and Description Text from UniProtKB
  ID: DIP2B_HUMAN
DESCRIPTION: RecName: Full=Disco-interacting protein 2 homolog B; Short=DIP2 homolog B;
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.
SIMILARITY: Belongs to the DIP2 family.
SEQUENCE CAUTION: Sequence=AAH75027.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence; Sequence=BAC03705.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence; Sequence=BAC05025.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=EAW58149.1; Type=Erroneous gene model prediction;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): DIP2B
CDC HuGE Published Literature: DIP2B
Positive Disease Associations: Colorectal Neoplasms
Related Studies:
  1. Colorectal Neoplasms
    Richard S Houlston et al. Nature genetics 2010, Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33., Nature genetics. [PubMed 20972440]

-  MalaCards Disease Associations
  MalaCards Gene Search: DIP2B
Diseases sorted by gene-association score: mental retardation, fra12a type* (900), x-linked hereditary ataxia (11), fragile x-associated tremor/ataxia syndrome (7)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 24.48 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 355.90 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -88.80290-0.306 Picture PostScript Text
3' UTR -1058.933828-0.277 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000873 - AMP-dep_Synth/Lig
IPR010506 - DMAP1-bd

Pfam Domains:
PF00501 - AMP-binding enzyme

SCOP Domains:
56801 - Acetyl-CoA synthetase-like

ModBase Predicted Comparative 3D Structure on Q9P265
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologGenome Browser
Gene Details    Gene Details
Gene Sorter    Gene Sorter
     SGD
     Protein Sequence
     Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003674 molecular_function
GO:0003824 catalytic activity

Biological Process:
GO:0008150 biological_process
GO:0008152 metabolic process

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0016020 membrane
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AB040896 - Homo sapiens mRNA for KIAA1463 protein, partial cds.
AK126758 - Homo sapiens cDNA FLJ44805 fis, clone BRACE3042409, weakly similar to Putative fatty-acid--CoA ligase fadD26 (EC 6.2.1.-).
BC007671 - Homo sapiens DIP2 disco-interacting protein 2 homolog B (Drosophila), mRNA (cDNA clone IMAGE:3161181), partial cds.
BC030156 - Homo sapiens DIP2 disco-interacting protein 2 homolog B (Drosophila), mRNA (cDNA clone IMAGE:4891308), partial cds.
AK097369 - Homo sapiens cDNA FLJ40050 fis, clone SYNOV3000184.
AK094890 - Homo sapiens cDNA FLJ37571 fis, clone BRCOC2002686.
JD094041 - Sequence 75065 from Patent EP1572962.
JD250060 - Sequence 231084 from Patent EP1572962.
JD537863 - Sequence 518887 from Patent EP1572962.
JD189648 - Sequence 170672 from Patent EP1572962.
BC071796 - Homo sapiens cDNA clone IMAGE:4615667, partial cds.
AX803823 - Sequence 19 from Patent WO03060129.
JD554710 - Sequence 535734 from Patent EP1572962.
JD058931 - Sequence 39955 from Patent EP1572962.
JD315106 - Sequence 296130 from Patent EP1572962.
JD063499 - Sequence 44523 from Patent EP1572962.
JD260007 - Sequence 241031 from Patent EP1572962.
JD432726 - Sequence 413750 from Patent EP1572962.
JD546380 - Sequence 527404 from Patent EP1572962.
JD075321 - Sequence 56345 from Patent EP1572962.
JD454029 - Sequence 435053 from Patent EP1572962.
JD239354 - Sequence 220378 from Patent EP1572962.
JD314155 - Sequence 295179 from Patent EP1572962.
JD236168 - Sequence 217192 from Patent EP1572962.
JD333576 - Sequence 314600 from Patent EP1572962.
JD160186 - Sequence 141210 from Patent EP1572962.
JD279961 - Sequence 260985 from Patent EP1572962.
JD363001 - Sequence 344025 from Patent EP1572962.
JD524299 - Sequence 505323 from Patent EP1572962.
JD351300 - Sequence 332324 from Patent EP1572962.
JD269369 - Sequence 250393 from Patent EP1572962.
JD076044 - Sequence 57068 from Patent EP1572962.
JD050528 - Sequence 31552 from Patent EP1572962.
JD530549 - Sequence 511573 from Patent EP1572962.
JD084666 - Sequence 65690 from Patent EP1572962.
JD145712 - Sequence 126736 from Patent EP1572962.
JD538568 - Sequence 519592 from Patent EP1572962.
JD545679 - Sequence 526703 from Patent EP1572962.
JD299216 - Sequence 280240 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: AK126758, DIP2B_HUMAN, KIAA1463, Q6B011, Q8N1L5, Q8NB38, Q9P265
UCSC ID: uc009zlt.3
RefSeq Accession: NM_173602
Protein: Q9P265 (aka DIP2B_HUMAN)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK126758.1
exon count: 27CDS single in 3' UTR: no RNA size: 3514
ORF size: 3021CDS single in intron: no Alignment % ID: 99.80
txCdsPredict score: 6068.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.