• Gene id: 26548

Gene Summary

• Gene Symbol: ITGB1BP2   Gene   UCSC   Ensembl
• Aliases: CHORDC3, ITGB1BP, MELUSIN, MSTP015
• Gene name: integrin subunit beta 1 binding protein 2
• Alternate names: integrin beta-1-binding protein 2, integrin beta 1 binding protein (melusin) 2,
• Gene location: Xq13.1 (71301749: 71305370)     Exons: 11     NC_000023.11
• Gene summary(Entrez): 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 pr
• OMIM: 610375

Protein Summary

• Protein general information: Q9UKP3  
  • Name: Integrin beta 1 binding protein 2 (Melusin)
  • Length: 347  
  • Mass: 38382
  • Tissue specificity: Expressed in skeletal and cardiac muscles but not in other tissues.
• Sequence:

  MSLLCRNKGCGQHFDPNTNLPDSCCHHPGVPIFHDALKGWSCCRKRTVDFSEFLNIKGCTMGPHCAEKLPEAPQP
  EGPATSSSLQEQKPLNVIPKSAETLRRERPKSELPLKLLPLNISQALEMALEQKELDQEPGAGLDSLIRTGSSCQ
  NPGCDAVYQGPESDATPCTYHPGAPRFHEGMKSWSCCGIQTLDFGAFLAQPGCRVGRHDWGKQLPASCRHDWHQT
  DSLVVVTVYGQIPLPAFNWVKASQTELHVHIVFDGNRVFQAQMKLWGVINVEQSSVFLMPSRVEISLVKADPGSW
  AQLEHPDALAKKARAGVVLEMDEEESDDSDDDLSWTEEEEEEEAMGE

• Structural information:
  • Protein Domains: (5..6-)
    (/note="CHORD-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00734-)
    (149..20-)
    (/note="CHORD-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00734-)
    (215..30-)
    (/note="CS-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00547"-)
  • Interpro: IPR007051  IPR039790  IPR007052  IPR008978  
  • Prosite: PS51401 PS51203
  • STRING: ENSP00000362935
• Other Databases: GeneCards:  ITGB1BP2  Malacards:  ITGB1BP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008270	zinc ion binding	IBA	molecular function
GO:0030018	Z disc	IBA	cellular component
GO:0017124	SH3 domain binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0007165	signal transduction	TAS	biological process
GO:0007517	muscle organ development	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0030018	Z disc	IEA	cellular component
GO:0005178	integrin binding	IEA	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881