Human Gene ITGB1BP2 (ENST00000373829.8_4) from GENCODE V47lift37
  Description: integrin subunit beta 1 binding protein 2, transcript variant 1 (from RefSeq NM_012278.4)
Gencode Transcript: ENST00000373829.8_4
Gencode Gene: ENSG00000147166.11_7
Transcript (Including UTRs)
   Position: hg19 chrX:70,521,600-70,525,221 Size: 3,622 Total Exon Count: 11 Strand: +
Coding Region
   Position: hg19 chrX:70,521,657-70,525,042 Size: 3,386 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:70,521,600-70,525,221)mRNA (may differ from genome)Protein (347 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ITBP2_HUMAN
DESCRIPTION: RecName: Full=Integrin beta-1-binding protein 2; AltName: Full=Melusin;
FUNCTION: May play a role during maturation and/or organization of muscles cells.
SUBUNIT: Interacts with beta-1 integrin subunit. This interaction is regulated by divalent cations, and it occurs only in absence of calcium.
TISSUE SPECIFICITY: Expressed in skeletal and cardiac muscles but not in other tissues.
DOMAIN: The tail domain binds to the cytoplasmic domain of both integrin beta-1a and beta-1d isoforms. The presence of Ca(2+) ions does not prevent binding of a fragment consisting of the second cysteine rich repeat and the tail domain but prevents the binding of the full-length protein.
SIMILARITY: Contains 2 CHORD domains.
SIMILARITY: Contains 1 CS domain.

-  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


-  MalaCards Disease Associations
  MalaCards Gene Search: ITGB1BP2
Diseases sorted by gene-association score: dilated cardiomyopathy (1)

-  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: 31.14 RPKM in Heart - Atrial Appendage
Total median expression: 107.46 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 -3.3057-0.058 Picture PostScript Text
3' UTR -39.90179-0.223 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
IPR007051 - CHORD
IPR007052 - CS-like_domain
IPR017447 - CS_domain
IPR008978 - HSP20-like_chaperone

Pfam Domains:
PF04968 - CHORD
PF04969 - CS domain

SCOP Domains:
49764 - HSP20-like chaperones

ModBase Predicted Comparative 3D Structure on Q9UKP3
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 DetailsGene Details    
Gene SorterGene Sorter    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005178 integrin binding
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0017124 SH3 domain binding
GO:0046872 metal ion binding

Biological Process:
GO:0007165 signal transduction
GO:0007517 muscle organ development

Cellular Component:
GO:0030018 Z disc


-  Descriptions from all associated GenBank mRNAs
  AF140690 - Homo sapiens melusin mRNA, complete cds.
JD345135 - Sequence 326159 from Patent EP1572962.
BC108901 - Homo sapiens integrin beta 1 binding protein (melusin) 2, mRNA (cDNA clone MGC:119214 IMAGE:40004692), complete cds.
AF110225 - Homo sapiens MSTP015 (MST015) mRNA, complete cds.
AB529088 - Synthetic construct DNA, clone: pF1KB4220, Homo sapiens ITGB1BP2 gene for integrin beta 1 binding protein (melusin) 2, without stop codon, in Flexi system.
KJ902437 - Synthetic construct Homo sapiens clone ccsbBroadEn_11831 ITGB1BP2 gene, encodes complete protein.
JD043798 - Sequence 24822 from Patent EP1572962.
JD250493 - Sequence 231517 from Patent EP1572962.
JD370624 - Sequence 351648 from Patent EP1572962.
JD373285 - Sequence 354309 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000373829.1, ENST00000373829.2, ENST00000373829.3, ENST00000373829.4, ENST00000373829.5, ENST00000373829.6, ENST00000373829.7, ITBP2_HUMAN, MSTP015, NM_012278, Q32N04, Q549J7, Q9UKP3, uc318lcc.1, uc318lcc.2
UCSC ID: ENST00000373829.8_4
RefSeq Accession: NM_012278.4
Protein: Q9UKP3 (aka ITBP2_HUMAN or ITP2_HUMAN)

-  Gene Model Information
  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.