• Gene id: 23504

Gene Summary

• Gene Symbol: RIMBP2   Gene   UCSC   Ensembl
• Aliases: PPP1R133, RBP2, RIM-BP2
• Gene name: RIMS binding protein 2
• Alternate names: RIMS-binding protein 2, RIM binding protein 2, protein phosphatase 1, regulatory subunit 133,
• Gene location: 12q24.33 (72307156: 72301637)     Exons: 6     NC_000023.11
• OMIM: 611602

Protein Summary

• Protein general information: O15034  
  • Name: RIMS binding protein 2 (RIM BP2)
  • Length: 1052  
  • Mass: 116026
• Sequence:

  MREAAERRQQLQLEHDQALAVLSAKQQEIDLLQKSKVRELEEKCRTQSEQFNLLSRDLEKFRQHAGKIDLLGGSA
  VAPLDISTAPSKPFPQFMNGLATSLGKGQESAIGGSSAIGEYIRPLPQPGDRPEPLSAKPTFLSRSGSARCRSES
  DMENERNSNTSKQRYSGKVHLCVARYSYNPFDGPNENPEAELPLTAGKYLYVYGDMDEDGFYEGELLDGQRGLVP
  SNFVDFVQDNESRLASTLGNEQDQNFINHSGIGLEGEHILDLHSPTHIDAGITDNSAGTLDVNIDDIGEDIVPYP
  RKITLIKQLAKSVIVGWEPPAVPPGWGTVSSYNVLVDKETRMNLTLGSRTKALIEKLNMAACTYRISVQCVTSRG
  SSDELQCTLLVGKDVVVAPSHLRVDNITQISAQLSWLPTNSNYSHVIFLNEEEFDIVKAARYKYQFFNLRPNMAY
  KVKVLAKPHQMPWQLPLEQREKKEAFVEFSTLPAGPPAPPQDVTVQAGVTPATIRVSWRPPVLTPTGLSNGANVT
  GYGVYAKGQRVAEVIFPTADSTAVELVRLRSLEAKGVTVRTLSAQGESVDSAVAAVPPELLVPPTPHPRPAPQSK
  PLASSGVPETKDEHLGPHARMDEAWEQSRAPGPVHGHMLEPPVGPGRRSPSPSRILPQPQGTPVSTTVAKAMARE
  AAQRVAESSRLEKRSVFLERSSAGQYAASDEEDAYDSPDFKRRGASVDDFLKGSELGKQPHCCHGDEYHTESSRG
  SDLSDIMEEDEEELYSEMQLEDGGRRRPSGTSHNALKILGNPASAGRVDHMGRRFPRGSAGPQRSRPVTVPSIDD
  YGRDRLSPDFYEESETDPGAEELPARIFVALFDYDPLTMSPNPDAAEEELPFKEGQIIKVYGDKDADGFYRGETC
  ARLGLIPCNMVSEIQADDEEMMDQLLRQGFLPLNTPVEKIERSRRSGRRHSVSTRRMVALYDYDPRESSPNVDVE
  AELTFCTGDIITVFGEIDEDGFYYGELNGQKGLVPSNFLEEVPDDVEVYLSDAPSHYSQDTPMRSKAKRKKSVHF
  TP

• Structural information:
  • Protein Domains: (167..23-)
    (/note="SH3-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192-)
    (297..39-)
    1 (/note="Fibronectin-type-III)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00316-)
    (393..47-)
    2 (/note="Fibronectin-type-III)
    (/evidence="ECO:0000-)
  • Interpro: IPR003961  IPR036116  IPR013783  IPR035753  IPR035755   IPR040325  IPR036028  IPR001452  
  • Prosite: PS50853 PS50002
  • CDD: cd00063 cd12012 cd12013
  • PDB: 1WIE 2CSI 2CSP 2CSQ
  • PDBsum: 1WIE 2CSI 2CSP 2CSQ
  • STRING: ENSP00000261655
• Other Databases: GeneCards:  RIMBP2  Malacards:  RIMBP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007274	neuromuscular synaptic transmission	IBA	biological process
GO:0010923	negative regulation of phosphatase activity	IDA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray