Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57605
Gene name Gene Name - the full gene name approved by the HGNC.
Phosphatidylinositol transfer protein membrane associated 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PITPNM2
Synonyms (NCBI Gene) Gene synonyms aliases
NIR-3, NIR3, RDGB2, RDGBA2
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q24.31
Summary Summary of gene provided in NCBI Entrez Gene.
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]
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT018089 hsa-miR-335-5p Microarray 18185580
MIRT042927 hsa-miR-324-3p CLASH 23622248
MIRT038447 hsa-miR-296-3p CLASH 23622248
MIRT439965 hsa-miR-1185-2-3p HITS-CLIP 24374217
MIRT439965 hsa-miR-1185-2-3p HITS-CLIP 24374217
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IDA 10022914
GO:0005515 Function Protein binding IPI 10022914
GO:0005548 Function Phospholipid transporter activity IEA
GO:0005737 Component Cytoplasm IBA
GO:0005829 Component Cytosol TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608920 21044 ENSG00000090975
Protein
UniProt ID Q9BZ72
Protein name Membrane-associated phosphatidylinositol transfer protein 2 (Phosphatidylinositol transfer protein, membrane-associated 2) (PITPnm 2) (Pyk2 N-terminal domain-interacting receptor 3) (NIR-3)
Protein function Catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes (in vitro). Binds calcium ions.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02121 IP_trans 1 251 Phosphatidylinositol transfer protein Family
PF02862 DDHD 715 962 DDHD domain Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in brain, heart, ovary, testis and thymus. Detected in small intestine, prostate, pancreas, skeletal muscle, liver, colon and placenta. {ECO:0000269|PubMed:10022914}.
Sequence
MIIKEYRIPLPMTVEEYRIAQLYMIQKKSRNETYGEGSGVEILENRPYTDGPGGSGQYTH
KVYHVGMHIPSWFRSILPKAALRVVEESWNAYPYTRTRFTCPFVEKFSIDIETFYKTDAG
ENPDVFNLSPVEKNQLTIDFIDIVKDPVPHNEYKTEEDPKLFQSTKTQRGPLSENWIEEY
KKQVFPIMCAYKLCKVEFRYWGMQSKIERFIHDTGLRRVMVRAHRQAWCWQDEWYGLSME
NIRELEKEAQL
MLSRKMAQFNEDGEEATELVKHEAVSDQTSGEPPEPSSSNGEPLVGRGL
KKQWSTSSKSSRSSKRGASPSRHSISEWRMQSIARDSDESSDDEFFDAHEDLSDTEEMFP
KDITKWSSNDLMDKIESPEPEDTQDGLYRQGAPEFRVASSVEQLNIIEDEVSQPLAAPPS
KIHVLLLVLHGGTILDTGAGDPSSKKGDANTIANVFDTVMRVHYPSALGRLAIRLVPCPP
VCSDAFALVSNLSPYSHDEGCLSSSQDHIPLAALPLLATSSPQYQEAVATVIQRANLAYG
DFIKSQEGMTFNGQVCLIGDCVGGILAFDALCYSNQPVSESQSSSRRGSVVSMQDNDLLS
PGILMNAAHCCGGGGGGGGGGGSSGGGGSSGGSSLESSRHLSRSNVDIPRSNGTEDPKRQ
LPRKRSDSSTYELDTIQQHQAFLSSLHASVLRTEPCSRHSSSSTMLDGTGALGRFDFEIT
DLFLFGCPLGLVLALRKTVIPALDVFQLRPACQQVYNLFHPADPSASRLEPLLERRFHAL
PPFSVPRYQRYPLGDGCSTLLADVLQTHNAAFQEHGAPSSPGTAPASRGFRRASEISIAS
QVSGMAESYTASSIAQKAPDALSHTPSVRRLSLLALPAPSPTTPGPHPPARKASPGLERA
PGLPELDIGEVAAKWWGQKRIDYALYCPDALTAFPTVALPHLFHASYWESTDVVSFLLRQ
VM
RHDNSSILELDGKEVSVFTPSKPREKWQRKRTHVKLRNVTANHRINDALANEDGPQVL
TGRFMYGPLDMVTLTGEKVDVHIMTQPPSGEWLYLDTLVTNNSGRVSYTIPESHRLGVGV
YPIKMVVRGDHTFADSYITVLPKGTEFVVFSIDGSFAASVSIMGSDPKVRAGAVDVVRHW
QDLGYLIIYVTGRPDMQKQRVVAWLAQHNFPHGVVSFCDGLVHDPLRHKANFLKLLISEL
HLRVHAAYGSTKDVAVYSAISLSPMQIYIVGRPTKKLQQQCQFITDGYAAHLAQLKYSHR
ARPARNTATRMALRKGSFGLPGQGDFLRSRNHLLRTISAQPSGPSHRHERTQSQADGEQR
GQRSMSVAAGCWGRAMTGRLEPGAAAGPK
Sequence length 1349
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Synthesis of PI
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma (childhood onset), Asthma, Age of onset of childhood onset asthma N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Eczema Eczema N/A N/A GWAS
Insomnia Insomnia N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Glioma Associate 35862252
Schizophrenia Associate 28195573