Human Gene CTTNBP2 (uc003vjf.3) Description and Page Index
  Description: Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.
RefSeq Summary (NM_033427): This gene encodes a protein with six ankyrin repeats and several proline-rich regions. A similar gene in rat interacts with a central regulator of the actin cytoskeleton. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: AF377960.1, BC106000.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000160373.8/ ENSP00000160373.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr7:117,350,706-117,513,561 Size: 162,856 Total Exon Count: 23 Strand: -
Coding Region
   Position: hg19 chr7:117,351,591-117,513,469 Size: 161,879 Coding Exon Count: 23 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr7:117,350,706-117,513,561)mRNA (may differ from genome)Protein (1663 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Cortactin-binding protein 2; Short=CortBP2;
SUBUNIT: Interacts with CTTN/cortactin SH3 domain (By similarity).
TISSUE SPECIFICITY: Highest expression in brain. Also expressed in kidney, pancreas, lung, heart, liver, skeletal muscle and placenta.
SIMILARITY: Contains 6 ANK repeats.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): CTTNBP2
CDC HuGE Published Literature: CTTNBP2
Positive Disease Associations: Coronary Artery Disease , Hip , Iron , Luteinizing Hormone , Mental Competency , Pancreatic Neoplasms
Related Studies:
  1. Coronary Artery Disease
    , , . [PubMed 0]
  2. Coronary Artery Disease
    , , . [PubMed 0]
  3. Hip
    Douglas P Kiel et al. BMC medical genetics 2007, Genome-wide association with bone mass and geometry in the Framingham Heart Study., BMC medical genetics. [PubMed 17903296]
    The FHS 100K SNP project offers an unbiased genome-wide strategy to identify new candidate loci and to replicate previously suggested candidate genes for osteoporosis.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: CTTNBP2
Diseases sorted by gene-association score: actinomycosis (11), inclusion conjunctivitis (5)

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

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 5.31 RPKM in Uterus
Total median expression: 101.81 RPKM

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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -44.4092-0.483 Picture PostScript Text
3' UTR -182.50885-0.206 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
IPR002110 - Ankyrin_rpt
IPR020683 - Ankyrin_rpt-contain_dom
IPR019131 - Cortactin-binding_p2_N

Pfam Domains:
PF00023 - Ankyrin repeat
PF09727 - Cortactin-binding protein-2
PF12796 - Ankyrin repeats (3 copies)
PF13606 - Ankyrin repeat
PF13637 - Ankyrin repeats (many copies)
PF13857 - Ankyrin repeats (many copies)

SCOP Domains:
48403 - Ankyrin repeat

ModBase Predicted Comparative 3D Structure on Q8WZ74
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 orthologGenome BrowserGenome BrowserNo orthologNo orthologGenome Browser
Gene DetailsGene Details   Gene Details
Gene SorterGene Sorter   Gene Sorter
 RGDEnsembl  SGD
 Protein SequenceProtein Sequence  Protein Sequence
 AlignmentAlignment  Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0017124 SH3 domain binding

Biological Process:
GO:0007420 brain development

Cellular Component:
GO:0005737 cytoplasm
GO:0005938 cell cortex
GO:0008021 synaptic vesicle
GO:0042995 cell projection
GO:0043197 dendritic spine

-  Descriptions from all associated GenBank mRNAs
  AF377960 - Homo sapiens cortactin-binding protein 2 (CORTBP2) mRNA, complete cds.
AB051545 - Homo sapiens mRNA for KIAA1758 protein, partial cds.
BC106000 - Homo sapiens cortactin binding protein 2, mRNA (cDNA clone MGC:104579 IMAGE:30528261), complete cds.
AK091548 - Homo sapiens cDNA FLJ34229 fis, clone FCBBF3025568, highly similar to Rattus norvegicus brain specific cortactin-binding protein CBP90 mRNA.
AX747051 - Sequence 576 from Patent EP1308459.
AK308081 - Homo sapiens cDNA, FLJ98029.
AL137685 - Homo sapiens mRNA; cDNA DKFZp434J122 (from clone DKFZp434J122).
BC019644 - Homo sapiens cortactin binding protein 2, mRNA (cDNA clone IMAGE:4454251), with apparent retained intron.
AK096565 - Homo sapiens cDNA FLJ39246 fis, clone OCBBF2008466.
JD331461 - Sequence 312485 from Patent EP1572962.
JD244312 - Sequence 225336 from Patent EP1572962.
JD165819 - Sequence 146843 from Patent EP1572962.
JD082657 - Sequence 63681 from Patent EP1572962.
JD516736 - Sequence 497760 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: C7orf8, CORTBP2, CTTB2_HUMAN, KIAA1758, NM_033427, NP_219499, O43389, Q7LG11, Q8WZ74, Q9C0A5
UCSC ID: uc003vjf.3
RefSeq Accession: NM_033427
Protein: Q8WZ74 (aka CTTB2_HUMAN)
CCDS: CCDS5774.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_033427.2
exon count: 23CDS single in 3' UTR: no RNA size: 5980
ORF size: 4992CDS single in intron: no Alignment % ID: 99.98
txCdsPredict score: 10178.00frame shift in genome: no % Coverage: 99.82
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.