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Aliases for ITGB1BP2 Gene

Aliases for ITGB1BP2 Gene

  • Integrin Subunit Beta 1 Binding Protein 2 2 3 5
  • Integrin Beta 1 Binding Protein 2 2 3
  • MELUSIN 3 4
  • Integrin Beta 1 Binding Protein (Melusin) 2 3
  • Melusin 2
  • CHORDC3 3
  • ITGB1BP 3
  • MSTP015 3

External Ids for ITGB1BP2 Gene

Previous GeneCards Identifiers for ITGB1BP2 Gene

  • GC0XP066695
  • GC0XP067998
  • GC0XP068754
  • GC0XP069388
  • GC0XP070304
  • GC0XP070438
  • GC0XP070521
  • GC0XP064337

Summaries for ITGB1BP2 Gene

GeneCards Summary for ITGB1BP2 Gene

ITGB1BP2 (Integrin Subunit Beta 1 Binding Protein 2) is a Protein Coding gene. GO annotations related to this gene include calcium ion binding and integrin binding. An important paralog of this gene is CHORDC1.

UniProtKB/Swiss-Prot for ITGB1BP2 Gene

  • May play a role during maturation and/or organization of muscles cells.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ITGB1BP2 Gene

Genomics for ITGB1BP2 Gene

Regulatory Elements for ITGB1BP2 Gene

Promoters for ITGB1BP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ITGB1BP2 on UCSC Golden Path with GeneCards custom track

Genomic Location for ITGB1BP2 Gene

Chromosome:
X
Start:
71,301,734 bp from pter
End:
71,305,371 bp from pter
Size:
3,638 bases
Orientation:
Plus strand

Genomic View for ITGB1BP2 Gene

Genes around ITGB1BP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ITGB1BP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ITGB1BP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ITGB1BP2 Gene

Proteins for ITGB1BP2 Gene

  • Protein details for ITGB1BP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UKP3-ITBP2_HUMAN
    Recommended name:
    Integrin beta-1-binding protein 2
    Protein Accession:
    Q9UKP3
    Secondary Accessions:
    • Q32N04
    • Q549J7

    Protein attributes for ITGB1BP2 Gene

    Size:
    347 amino acids
    Molecular mass:
    38382 Da
    Quaternary structure:
    • Interacts with beta-1 integrin subunit. This interaction is regulated by divalent cations, and it occurs only in absence of calcium.

    Alternative splice isoforms for ITGB1BP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ITGB1BP2 Gene

Proteomics data for ITGB1BP2 Gene at MOPED

Post-translational modifications for ITGB1BP2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ITGB1BP2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for ITGB1BP2 Gene

Domains & Families for ITGB1BP2 Gene

Protein Domains for ITGB1BP2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ITGB1BP2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UKP3

UniProtKB/Swiss-Prot:

ITBP2_HUMAN :
  • 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.
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.
  • Contains 2 CHORD domains.
  • Contains 1 CS domain.
genes like me logo Genes that share domains with ITGB1BP2: view

No data available for Gene Families for ITGB1BP2 Gene

Function for ITGB1BP2 Gene

Molecular function for ITGB1BP2 Gene

UniProtKB/Swiss-Prot Function:
May play a role during maturation and/or organization of muscles cells.

Gene Ontology (GO) - Molecular Function for ITGB1BP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 25036637
GO:0017124 SH3 domain binding IEA --
genes like me logo Genes that share ontologies with ITGB1BP2: view
genes like me logo Genes that share phenotypes with ITGB1BP2: view

Animal Models for ITGB1BP2 Gene

MGI Knock Outs for ITGB1BP2:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for ITGB1BP2 Gene

Localization for ITGB1BP2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ITGB1BP2 Gene COMPARTMENTS Subcellular localization image for ITGB1BP2 gene
Compartment Confidence
cytosol 3
extracellular 1
nucleus 1
peroxisome 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for ITGB1BP2 Gene

Pathways & Interactions for ITGB1BP2 Gene

SuperPathways for ITGB1BP2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ITGB1BP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction TAS 10506186
genes like me logo Genes that share ontologies with ITGB1BP2: view

No data available for Pathways by source and SIGNOR curated interactions for ITGB1BP2 Gene

Drugs & Compounds for ITGB1BP2 Gene

(1) Drugs for ITGB1BP2 Gene - From: Novoseek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with ITGB1BP2: view

Transcripts for ITGB1BP2 Gene

Unigene Clusters for ITGB1BP2 Gene

Integrin beta 1 binding protein (melusin) 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ITGB1BP2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b
SP1: - - - -
SP2: - - - -
SP3:
SP4:

Relevant External Links for ITGB1BP2 Gene

GeneLoc Exon Structure for
ITGB1BP2
ECgene alternative splicing isoforms for
ITGB1BP2

Expression for ITGB1BP2 Gene

mRNA expression in normal human tissues for ITGB1BP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ITGB1BP2 Gene

This gene is overexpressed in Heart - Atrial Appendage (x16.1) and Heart - Left Ventricle (x14.0).

Protein differential expression in normal tissues from HIPED for ITGB1BP2 Gene

This gene is overexpressed in Fetal heart (30.7) and Heart (26.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ITGB1BP2 Gene



SOURCE GeneReport for Unigene cluster for ITGB1BP2 Gene Hs.109999

mRNA Expression by UniProt/SwissProt for ITGB1BP2 Gene

Q9UKP3-ITBP2_HUMAN
Tissue specificity: Expressed in skeletal and cardiac muscles but not in other tissues.
genes like me logo Genes that share expression patterns with ITGB1BP2: view

Protein tissue co-expression partners for ITGB1BP2 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for ITGB1BP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ITGB1BP2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ITGB1BP2 35
  • 93.37 (n)
  • 92.8 (a)
ITGB1BP2 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ITGB1BP2 35
  • 94.99 (n)
  • 95.95 (a)
ITGB1BP2 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Itgb1bp2 35
  • 91.04 (n)
  • 93.64 (a)
Itgb1bp2 16
Itgb1bp2 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ITGB1BP2 35
  • 99.81 (n)
  • 100 (a)
ITGB1BP2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Itgb1bp2 35
  • 91.14 (n)
  • 93.93 (a)
oppossum
(Monodelphis domestica)
Mammalia ITGB1BP2 36
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves ITGB1BP2 35
  • 61.98 (n)
  • 59.15 (a)
ITGB1BP2 36
  • 47 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 48 (a)
OneToMany
-- 36
  • 47 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii ITGB1BP2 36
  • 43 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CHORD 37
  • 41 (a)
CHORD 36
  • 38 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea chp-1 37
  • 33 (a)
chp-1 36
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4939 36
  • 35 (a)
OneToMany
Species with no ortholog for ITGB1BP2:
  • A. gosspyii yeast (Ashbya 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ITGB1BP2 Gene

ENSEMBL:
Gene Tree for ITGB1BP2 (if available)
TreeFam:
Gene Tree for ITGB1BP2 (if available)

Paralogs for ITGB1BP2 Gene

Paralogs for ITGB1BP2 Gene

(1) SIMAP similar genes for ITGB1BP2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ITGB1BP2: view

Variants for ITGB1BP2 Gene

Sequence variations from dbSNP and Humsavar for ITGB1BP2 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs5937081 -- 71,303,460(+) GCCCA(A/G)GACTT splice-acceptor-variant
rs5981101 -- 71,305,743(+) ACTCC(A/G)TGGTG downstream-variant-500B
rs7061610 -- 71,305,458(+) AGCAC(A/G)TGCAC downstream-variant-500B
rs12832298 -- 71,304,920(+) TTTGA(C/T)TTCCT intron-variant
rs16992475 -- 71,303,730(+) AGGCT(A/G)TGAGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ITGB1BP2 Gene

Variant ID Type Subtype PubMed ID
esv1584074 OTHER Inversion 17803354
esv33082 CNV Loss 17666407

Variation tolerance for ITGB1BP2 Gene

Residual Variation Intolerance Score: 53.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.39; 27.31% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ITGB1BP2 Gene

HapMap Linkage Disequilibrium report
ITGB1BP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ITGB1BP2 Gene

Disorders for ITGB1BP2 Gene

Relevant External Links for ITGB1BP2

Genetic Association Database (GAD)
ITGB1BP2
Human Genome Epidemiology (HuGE) Navigator
ITGB1BP2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ITGB1BP2

No disorders were found for ITGB1BP2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ITGB1BP2 Gene

Publications for ITGB1BP2 Gene

  1. Melusin is a new muscle-specific interactor for beta(1) integrin cytoplasmic domain. (PMID: 10506186) Brancaccio M. … Silengo L. (J. Biol. Chem. 1999) 2 3 4 23 67
  2. Melusin gene (ITGB1BP2) nucleotide variations study in hypertensive and cardiopathic patients. (PMID: 20017903) Palumbo V. … Crovella S. (BMC Med. Genet. 2009) 3 23
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. A quantitative chaperone interaction network reveals the architecture of cellular protein homeostasis pathways. (PMID: 25036637) Taipale M. … Lindquist S. (Cell 2014) 3
  5. Identification of a missense mutation in the melusin-encoding ITGB1BP2 gene in a patient with dilated cardiomyopathy. (PMID: 23124043) Ruppert V. … Pankuweit S. (Gene 2013) 3

Products for ITGB1BP2 Gene

Sources for ITGB1BP2 Gene

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