• Gene id: 57605

Gene Summary

• Gene Symbol: PITPNM2   Gene   UCSC   Ensembl
• Aliases: NIR-3, NIR3, RDGB2, RDGBA2
• Gene name: phosphatidylinositol transfer protein membrane associated 2
• Alternate names: membrane-associated phosphatidylinositol transfer protein 2, PYK2 N-terminal domain-interacting receptor 3, retinal degeneration B alpha 2,
• Gene location: 12q24.31 (123150014: 122983479)     Exons: 30     NC_000012.12
• Gene summary(Entrez): PITPNM2 belongs to a family of membrane-associated phosphatidylinositol transfer domain-containing proteins that share homology with the Drosophila retinal degeneration B (rdgB) protein (Ocaka et al., 2005 [PubMed 15627748]).[supplied by OMIM, Mar 2008]

Protein Summary

• Protein general information: Q9BZ72  
  • Name: Membrane associated phosphatidylinositol transfer protein 2 (Phosphatidylinositol transfer protein, membrane associated 2) (PITPnm 2) (Pyk2 N terminal domain interacting receptor 3) (NIR 3)
  • Length: 1349  
  • Mass: 148933
  • Tissue specificity: Highly expressed in brain, heart, ovary, testis and thymus. Detected in small intestine, prostate, pancreas, skeletal muscle, liver, colon and placenta. {ECO
• Sequence:

  MIIKEYRIPLPMTVEEYRIAQLYMIQKKSRNETYGEGSGVEILENRPYTDGPGGSGQYTHKVYHVGMHIPSWFRS
  ILPKAALRVVEESWNAYPYTRTRFTCPFVEKFSIDIETFYKTDAGENPDVFNLSPVEKNQLTIDFIDIVKDPVPH
  NEYKTEEDPKLFQSTKTQRGPLSENWIEEYKKQVFPIMCAYKLCKVEFRYWGMQSKIERFIHDTGLRRVMVRAHR
  QAWCWQDEWYGLSMENIRELEKEAQLMLSRKMAQFNEDGEEATELVKHEAVSDQTSGEPPEPSSSNGEPLVGRGL
  KKQWSTSSKSSRSSKRGASPSRHSISEWRMQSIARDSDESSDDEFFDAHEDLSDTEEMFPKDITKWSSNDLMDKI
  ESPEPEDTQDGLYRQGAPEFRVASSVEQLNIIEDEVSQPLAAPPSKIHVLLLVLHGGTILDTGAGDPSSKKGDAN
  TIANVFDTVMRVHYPSALGRLAIRLVPCPPVCSDAFALVSNLSPYSHDEGCLSSSQDHIPLAALPLLATSSPQYQ
  EAVATVIQRANLAYGDFIKSQEGMTFNGQVCLIGDCVGGILAFDALCYSNQPVSESQSSSRRGSVVSMQDNDLLS
  PGILMNAAHCCGGGGGGGGGGGSSGGGGSSGGSSLESSRHLSRSNVDIPRSNGTEDPKRQLPRKRSDSSTYELDT
  IQQHQAFLSSLHASVLRTEPCSRHSSSSTMLDGTGALGRFDFEITDLFLFGCPLGLVLALRKTVIPALDVFQLRP
  ACQQVYNLFHPADPSASRLEPLLERRFHALPPFSVPRYQRYPLGDGCSTLLADVLQTHNAAFQEHGAPSSPGTAP
  ASRGFRRASEISIASQVSGMAESYTASSIAQKAPDALSHTPSVRRLSLLALPAPSPTTPGPHPPARKASPGLERA
  PGLPELDIGEVAAKWWGQKRIDYALYCPDALTAFPTVALPHLFHASYWESTDVVSFLLRQVMRHDNSSILELDGK
  EVSVFTPSKPREKWQRKRTHVKLRNVTANHRINDALANEDGPQVLTGRFMYGPLDMVTLTGEKVDVHIMTQPPSG
  EWLYLDTLVTNNSGRVSYTIPESHRLGVGVYPIKMVVRGDHTFADSYITVLPKGTEFVVFSIDGSFAASVSIMGS
  DPKVRAGAVDVVRHWQDLGYLIIYVTGRPDMQKQRVVAWLAQHNFPHGVVSFCDGLVHDPLRHKANFLKLLISEL
  HLRVHAAYGSTKDVAVYSAISLSPMQIYIVGRPTKKLQQQCQFITDGYAAHLAQLKYSHRARPARNTATRMALRK
  GSFGLPGQGDFLRSRNHLLRTISAQPSGPSHRHERTQSQADGEQRGQRSMSVAAGCWGRAMTGRLEPGAAAGPK

• Structural information:
  • Protein Domains: (715..96-)
    (/note="DDHD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00378"-)
  • Interpro: IPR004177  IPR036412  IPR031315  IPR001666  IPR023393  
  • Prosite: PS51043
  • STRING: ENSP00000322218
• Other Databases: GeneCards:  PITPNM2  Malacards:  PITPNM2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031210	phosphatidylcholine binding	IBA	molecular function
GO:0008526	phosphatidylinositol transfer activity	IBA	molecular function
GO:0008525	phosphatidylcholine transporter activity	IBA	molecular function
GO:0035091	phosphatidylinositol binding	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0005548	phospholipid transporter activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0015914	phospholipid transport	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0008289	lipid binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0006661	phosphatidylinositol biosynthetic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0044297	cell body	IEA	cellular component
GO:0012505	endomembrane system	IEA	cellular component
GO:0120009	intermembrane lipid transfer	IEA	biological process
GO:0120009	intermembrane lipid transfer	IEA	biological process
GO:0005509	calcium ion binding	IDA	molecular function
GO:0008526	phosphatidylinositol transfer activity	IDA	molecular function
GO:0048015	phosphatidylinositol-mediated signaling	IDA	biological process
GO:0030971	receptor tyrosine kinase binding	IMP	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

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