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Aliases for ITGB1BP2 Gene

Aliases for ITGB1BP2 Gene

  • Integrin Subunit Beta 1 Binding Protein 2 2 3 5
  • Melusin 2 3 4
  • Integrin Beta 1 Binding Protein (Melusin) 2 3
  • Integrin Beta 1 Binding Protein 2 2
  • Integrin Beta-1-Binding Protein 2 3
  • 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

Entrez Gene Summary for ITGB1BP2 Gene

  • This gene encodes a protein with two cysteine and histidine-rich (CHORD) domains, PXXP motifs, YXXI/P motifs, putative SH2 and SH3 domain binding motifs, and an acidic region at the C-terminus that can bind calcium. Two hybrid analysis showed that this protein interacts with the cytoplasmic domain of the beta 1 integrin subunit and is thought to act as a chaperone protein. Studies in the mouse ortholog of this gene indicate that absence of this gene in mouse results in failed cardiac hypertrophy in response to mechanical stress. Alternative splicing results in multiple transcript variants encoding different isoforms, including an isoform that lacks several domains, including one of the CHORD domains. [provided by RefSeq, May 2017]

GeneCards Summary for ITGB1BP2 Gene

ITGB1BP2 (Integrin Subunit Beta 1 Binding Protein 2) is a Protein Coding gene. Diseases associated with ITGB1BP2 include Dilated Cardiomyopathy. Gene Ontology (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.

Additional gene information for ITGB1BP2 Gene

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

Genomics for ITGB1BP2 Gene

GeneHancer (GH) Regulatory Elements for ITGB1BP2 Gene

Promoters and enhancers for ITGB1BP2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XI071300 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 550.8 +0.2 224 2 FOXA2 ZNF449 JUN YY1 FOSL1 POLR2A PATZ1 HNF4G PAF1 FOXA3 ITGB1BP2 ZMYM3 ENSG00000228427 TAF1 MED12 IL2RG LOC100131556 NONO
GH0XI071282 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 0.4 -17.4 -17425 4.2 PKNOX1 SMAD1 ARNT SIN3A FEZF1 DMAP1 ZNF2 YY1 POLR2B ZNF213 NONO MED12 ERCC6L OGT ENSG00000229601 TAF1 LOC392489 RPS26P11 ITGB1BP2
GH0XI071297 Enhancer 0.5 ENCODE 0.8 -3.4 -3395 1.2 POLR2A HLF CEBPA CEBPB CEBPG MED12 IL2RG ITGB1BP2 NONO
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ITGB1BP2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ITGB1BP2 gene promoter:

Genomic Locations for ITGB1BP2 Gene

Genomic Locations for ITGB1BP2 Gene
chrX:71,301,734-71,305,371
(GRCh38/hg38)
Size:
3,638 bases
Orientation:
Plus strand
chrX:70,521,584-70,525,221
(GRCh37/hg19)

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

Post-translational modifications for ITGB1BP2 Gene

No Post-translational modifications

Other Protein References for ITGB1BP2 Gene

No data available for DME Specific Peptides for ITGB1BP2 Gene

Domains & Families for ITGB1BP2 Gene

Gene Families for ITGB1BP2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ITGB1BP2 Gene

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.
genes like me logo Genes that share domains with ITGB1BP2: view

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:0005178 integrin binding IEA --
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 25036637
GO:0008270 zinc ion binding IEA --
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

Inhibitory RNA Products

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

Localization for ITGB1BP2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ITGB1BP2 gene
Compartment Confidence
cytosol 3
extracellular 1
peroxisome 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ITGB1BP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030018 Z disc IEA --
genes like me logo Genes that share ontologies with ITGB1BP2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot 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
GO:0007517 muscle organ development 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: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved 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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for ITGB1BP2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ITGB1BP2 Gene:

ITGB1BP2

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.

Evidence on tissue expression from TISSUES for ITGB1BP2 Gene

  • Muscle(4.6)
  • Heart(4.5)
genes like me logo Genes that share expression patterns with ITGB1BP2: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ITGB1BP2 Gene

Orthologs for ITGB1BP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ITGB1BP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ITGB1BP2 33 34
  • 99.81 (n)
dog
(Canis familiaris)
Mammalia ITGB1BP2 33 34
  • 94.99 (n)
cow
(Bos Taurus)
Mammalia ITGB1BP2 33 34
  • 93.37 (n)
rat
(Rattus norvegicus)
Mammalia Itgb1bp2 33
  • 91.14 (n)
mouse
(Mus musculus)
Mammalia Itgb1bp2 33 16 34
  • 91.04 (n)
oppossum
(Monodelphis domestica)
Mammalia ITGB1BP2 34
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves ITGB1BP2 33 34
  • 61.98 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 48 (a)
OneToMany
-- 34
  • 47 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii ITGB1BP2 34
  • 43 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CHORD 35 34
  • 41 (a)
worm
(Caenorhabditis elegans)
Secernentea chp-1 35 34
  • 33 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4939 34
  • 35 (a)
OneToMany
Species where no ortholog for ITGB1BP2 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs869025344 pathogenic, Mental retardation, X-linked, syndromic 34 71,300,051(+) CCCC/CCCCC upstream_transcript_variant
rs1064796806 pathogenic, not provided 71,299,948(+) CC/C upstream_transcript_variant
rs587777210 uncertain-significance, not provided 71,305,086(+) C/G coding_sequence_variant, missense_variant
rs751131066 uncertain-significance, not specified 71,299,972(+) GCTGCT/GCTGCTGCT upstream_transcript_variant
rs1000131078 -- 71,300,228(+) G/A upstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
esv33082 CNV loss 17666407
esv1584074 OTHER inversion 17803354

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)

Additional Variant Information for ITGB1BP2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ITGB1BP2

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

Disorders for ITGB1BP2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ITGB1BP2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
dilated cardiomyopathy
  • cardiomyopathy, familial idiopathic
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ITGB1BP2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ITGB1BP2: view

No data available for 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 (The Journal of biological chemistry 1999) 2 3 4 22 58
  2. Melusin gene (ITGB1BP2) nucleotide variations study in hypertensive and cardiopathic patients. (PMID: 20017903) Palumbo V … Crovella S (BMC medical genetics 2009) 3 22 44 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58
  5. A quantitative chaperone interaction network reveals the architecture of cellular protein homeostasis pathways. (PMID: 25036637) Taipale M … Lindquist S (Cell 2014) 3 58

Products for ITGB1BP2 Gene

Sources for ITGB1BP2 Gene

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