Human Gene APBB2 (uc003gvn.3)
  Description: Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 2 (APBB2), transcript variant 1, mRNA.
RefSeq Summary (NM_004307): The protein encoded by this gene interacts with the cytoplasmic domains of amyloid beta (A4) precursor protein and amyloid beta (A4) precursor-like protein 2. This protein contains two phosphotyrosine binding (PTB) domains, which are thought to function in signal transduction. Polymorphisms in this gene have been associated with Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009].
Transcript (Including UTRs)
   Position: hg19 chr4:40,812,044-41,216,635 Size: 404,592 Total Exon Count: 18 Strand: -
Coding Region
   Position: hg19 chr4:40,818,109-41,035,271 Size: 217,163 Coding Exon Count: 14 

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

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:40,812,044-41,216,635)mRNA (may differ from genome)Protein (759 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCHuman Cortex Gene ExpressionLynxMalacardsMGI
OMIMPubMedTreefamUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: E9PG87_HUMAN
DESCRIPTION: SubName: Full=Amyloid beta A4 precursor protein-binding family B member 2;
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  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): APBB2
CDC HuGE Published Literature: APBB2
Positive Disease Associations: Tunica Media
Related Studies:
  1. Tunica Media
    , , . [PubMed 0]

-  MalaCards Disease Associations
  MalaCards Gene Search: APBB2
Diseases sorted by gene-association score: alzheimer disease (4)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D013749 Tetrachlorodibenzodioxin
  • D000082 Acetaminophen
  • D001564 Benzo(a)pyrene
  • C014211 2,3,7,8-tetrachlorodibenzofuran
  • C029497 2,3-bis(3'-hydroxybenzyl)butyrolactone
  • C548651 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester
  • D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide
  • D016604 Aflatoxin B1
  • D002251 Carbon Tetrachloride
  • D002737 Chloroprene
          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: 15.61 RPKM in Nerve - Tibial
Total median expression: 334.52 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 -225.80630-0.358 Picture PostScript Text
3' UTR -1599.396065-0.264 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
IPR011993 - PH_like_dom
IPR006020 - PTyr_interaction_dom
IPR001202 - WW_Rsp5_WWP

Pfam Domains:
PF00397 - WW domain
PF00640 - Phosphotyrosine interaction domain (PTB/PID)

SCOP Domains:
50729 - PH domain-like
51045 - WW domain

ModBase Predicted Comparative 3D Structure on E9PG87
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 orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Descriptions from all associated GenBank mRNAs
  BC027946 - Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 2, mRNA (cDNA clone MGC:35575 IMAGE:5203925), complete cds.
BC088372 - Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 2, mRNA (cDNA clone IMAGE:30377497), partial cds.
AK226179 - Homo sapiens mRNA for Amyloid beta A4 precursor protein-binding family B member 2 variant, clone: ej00479.
U62325 - Human FE65-like protein (hFE65L) mRNA, partial cds.
AK304247 - Homo sapiens cDNA FLJ61068 complete cds, highly similar to Amyloid beta A4 precursor protein-bindingfamily B member 2 (Fe65-like protein).
AK289838 - Homo sapiens cDNA FLJ75171 complete cds, highly similar to Homo sapiens amyloid beta (A4) precursor protein-binding, family B,member 2 (Fe65-like) (APBB2), mRNA.
DQ891553 - Synthetic construct clone IMAGE:100004183; FLH178005.01X; RZPDo839G04126D amyloid beta (A4) precursor protein-binding, family B, member 2 (Fe65-like) (APBB2) gene, encodes complete protein.
KJ901286 - Synthetic construct Homo sapiens clone ccsbBroadEn_10680 APBB2 gene, encodes complete protein.
DQ894740 - Synthetic construct Homo sapiens clone IMAGE:100009200; FLH178002.01L; RZPDo839G04125D amyloid beta (A4) precursor protein-binding, family B, member 2 (Fe65-like) (APBB2) gene, encodes complete protein.
KU177906 - Homo sapiens amyloid beta precursor protein-binding family B member 2 isoform 1 (APBB2) mRNA, partial cds.
KU177907 - Homo sapiens amyloid beta precursor protein-binding family B member 2 isoform 2 (APBB2) mRNA, partial cds, alternatively spliced.
AB385141 - Synthetic construct DNA, clone: pF1KB5641, Homo sapiens APBB2 gene for amyloid beta A4 precursor protein-binding family B member 2, complete cds, without stop codon, in Flexi system.
AK024871 - Homo sapiens cDNA: FLJ21218 fis, clone COL00537.
CU693336 - Synthetic construct Homo sapiens gateway clone IMAGE:100016711 5' read APBB2 mRNA.
AK295974 - Homo sapiens cDNA FLJ52628 complete cds, highly similar to Amyloid beta A4 precursor protein-binding family B member 2 (Fe65-like protein).
AL080130 - Homo sapiens mRNA; cDNA DKFZp434E033 (from clone DKFZp434E033).
JD022512 - Sequence 3536 from Patent EP1572962.
JD033290 - Sequence 14314 from Patent EP1572962.
JD030278 - Sequence 11302 from Patent EP1572962.
JD402610 - Sequence 383634 from Patent EP1572962.
JD358466 - Sequence 339490 from Patent EP1572962.
JD148045 - Sequence 129069 from Patent EP1572962.
JD253798 - Sequence 234822 from Patent EP1572962.
AK299800 - Homo sapiens cDNA FLJ50028 complete cds, highly similar to Amyloid beta A4 precursor protein-binding family B member 2 (Fe65-like protein).
JD112718 - Sequence 93742 from Patent EP1572962.
JD092465 - Sequence 73489 from Patent EP1572962.
JD166315 - Sequence 147339 from Patent EP1572962.
JD470514 - Sequence 451538 from Patent EP1572962.
JD252352 - Sequence 233376 from Patent EP1572962.
JD101524 - Sequence 82548 from Patent EP1572962.
JD382003 - Sequence 363027 from Patent EP1572962.
JD109271 - Sequence 90295 from Patent EP1572962.
JD328255 - Sequence 309279 from Patent EP1572962.
JD450483 - Sequence 431507 from Patent EP1572962.
JD104350 - Sequence 85374 from Patent EP1572962.
JD252369 - Sequence 233393 from Patent EP1572962.
JD522566 - Sequence 503590 from Patent EP1572962.
JD121583 - Sequence 102607 from Patent EP1572962.
JD290593 - Sequence 271617 from Patent EP1572962.
JD186276 - Sequence 167300 from Patent EP1572962.
JD045138 - Sequence 26162 from Patent EP1572962.
JD396382 - Sequence 377406 from Patent EP1572962.
JD168770 - Sequence 149794 from Patent EP1572962.
JD254997 - Sequence 236021 from Patent EP1572962.
JD178015 - Sequence 159039 from Patent EP1572962.
JD524903 - Sequence 505927 from Patent EP1572962.
JD387581 - Sequence 368605 from Patent EP1572962.
JD187879 - Sequence 168903 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: E9PG87, E9PG87_HUMAN, NM_004307, NP_004298
UCSC ID: uc003gvn.3
RefSeq Accession: NM_004307
Protein: E9PG87 CCDS: CCDS43224.1, CCDS54761.1, CCDS54762.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_004307.1
exon count: 18CDS single in 3' UTR: no RNA size: 9004
ORF size: 2280CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4466.50frame shift in genome: no % Coverage: 99.68
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.