LOCUS       NP_065896               1349 aa            linear   PRI 30-APR-2025
DEFINITION  membrane-associated phosphatidylinositol transfer protein 2 isoform
            1 [Homo sapiens].
ACCESSION   NP_065896
VERSION     NP_065896.1
DBSOURCE    REFSEQ: accession NM_020845.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1349)
  AUTHORS   Lescai,F., Als,T.D., Li,Q., Nyegaard,M., Andorsdottir,G.,
            Biskopsto,M., Hedemand,A., Fiorentino,A., O'Brien,N., Jarram,A.,
            Liang,J., Grove,J., Pallesen,J., Eickhardt,E., Mattheisen,M.,
            Bolund,L., Demontis,D., Wang,A.G., McQuillin,A., Mors,O., Wang,J.
            and Borglum,A.D.
  TITLE     Whole-exome sequencing of individuals from an isolated population
            implicates rare risk variants in bipolar disorder
  JOURNAL   Transl Psychiatry 7 (2), e1034 (2017)
   PUBMED   28195573
  REMARK    GeneRIF: PITPNM2 was associated with bipolar disorder.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1349)
  AUTHORS   Rietveld,C.A., Esko,T., Davies,G., Pers,T.H., Turley,P.,
            Benyamin,B., Chabris,C.F., Emilsson,V., Johnson,A.D., Lee,J.J., de
            Leeuw,C., Marioni,R.E., Medland,S.E., Miller,M.B., Rostapshova,O.,
            van der Lee,S.J., Vinkhuyzen,A.A., Amin,N., Conley,D.,
            Derringer,J., van Duijn,C.M., Fehrmann,R., Franke,L., Glaeser,E.L.,
            Hansell,N.K., Hayward,C., Iacono,W.G., Ibrahim-Verbaas,C.,
            Jaddoe,V., Karjalainen,J., Laibson,D., Lichtenstein,P.,
            Liewald,D.C., Magnusson,P.K., Martin,N.G., McGue,M., McMahon,G.,
            Pedersen,N.L., Pinker,S., Porteous,D.J., Posthuma,D.,
            Rivadeneira,F., Smith,B.H., Starr,J.M., Tiemeier,H., Timpson,N.J.,
            Trzaskowski,M., Uitterlinden,A.G., Verhulst,F.C., Ward,M.E.,
            Wright,M.J., Davey Smith,G., Deary,I.J., Johannesson,M., Plomin,R.,
            Visscher,P.M., Benjamin,D.J., Cesarini,D. and Koellinger,P.D.
  TITLE     Common genetic variants associated with cognitive performance
            identified using the proxy-phenotype method
  JOURNAL   Proc Natl Acad Sci U S A 111 (38), 13790-13794 (2014)
   PUBMED   25201988
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2015 Jan 27;112(4):E380. doi:
            10.1073/pnas.1424631112. PMID: 25572966]
REFERENCE   3  (residues 1 to 1349)
  CONSRTM   Schizophrenia Working Group of the Psychiatric Genomics Consortium
  TITLE     Biological insights from 108 schizophrenia-associated genetic loci
  JOURNAL   Nature 511 (7510), 421-427 (2014)
   PUBMED   25056061
REFERENCE   4  (residues 1 to 1349)
  AUTHORS   Ripke,S., O'Dushlaine,C., Chambert,K., Moran,J.L., Kahler,A.K.,
            Akterin,S., Bergen,S.E., Collins,A.L., Crowley,J.J., Fromer,M.,
            Kim,Y., Lee,S.H., Magnusson,P.K., Sanchez,N., Stahl,E.A.,
            Williams,S., Wray,N.R., Xia,K., Bettella,F., Borglum,A.D.,
            Bulik-Sullivan,B.K., Cormican,P., Craddock,N., de Leeuw,C.,
            Durmishi,N., Gill,M., Golimbet,V., Hamshere,M.L., Holmans,P.,
            Hougaard,D.M., Kendler,K.S., Lin,K., Morris,D.W., Mors,O.,
            Mortensen,P.B., Neale,B.M., O'Neill,F.A., Owen,M.J.,
            Milovancevic,M.P., Posthuma,D., Powell,J., Richards,A.L.,
            Riley,B.P., Ruderfer,D., Rujescu,D., Sigurdsson,E., Silagadze,T.,
            Smit,A.B., Stefansson,H., Steinberg,S., Suvisaari,J., Tosato,S.,
            Verhage,M., Walters,J.T., Levinson,D.F., Gejman,P.V., Kendler,K.S.,
            Laurent,C., Mowry,B.J., O'Donovan,M.C., Owen,M.J., Pulver,A.E.,
            Riley,B.P., Schwab,S.G., Wildenauer,D.B., Dudbridge,F., Holmans,P.,
            Shi,J., Albus,M., Alexander,M., Campion,D., Cohen,D., Dikeos,D.,
            Duan,J., Eichhammer,P., Godard,S., Hansen,M., Lerer,F.B.,
            Liang,K.Y., Maier,W., Mallet,J., Nertney,D.A., Nestadt,G.,
            Norton,N., O'Neill,F.A., Papadimitriou,G.N., Ribble,R.,
            Sanders,A.R., Silverman,J.M., Walsh,D., Williams,N.M., Wormley,B.,
            Arranz,M.J., Bakker,S., Bender,S., Bramon,E., Collier,D.,
            Crespo-Facorro,B., Hall,J., Iyegbe,C., Jablensky,A., Kahn,R.S.,
            Kalaydjieva,L., Lawrie,S., Lewis,C.M., Lin,K., Linszen,D.H.,
            Mata,I., McIntosh,A., Murray,R.M., Ophoff,R.A., Powell,J.,
            Rujescu,D., Van Os,J., Walshe,M., Weisbrod,M., Wiersma,D.,
            Donnelly,P., Barroso,I., Blackwell,J.M., Bramon,E., Brown,M.A.,
            Casas,J.P., Corvin,A.P., Deloukas,P., Duncanson,A., Jankowski,J.,
            Markus,H.S., Mathew,C.G., Palmer,C.N., Plomin,R., Rautanen,A.,
            Sawcer,S.J., Trembath,R.C., Viswanathan,A.C., Wood,N.W.,
            Spencer,C.C., Band,G., Bellenguez,C., Freeman,C., Hellenthal,G.,
            Giannoulatou,E., Pirinen,M., Pearson,R.D., Strange,A., Su,Z.,
            Vukcevic,D., Donnelly,P., Langford,C., Hunt,S.E., Edkins,S.,
            Gwilliam,R., Blackburn,H., Bumpstead,S.J., Dronov,S., Gillman,M.,
            Gray,E., Hammond,N., Jayakumar,A., McCann,O.T., Liddle,J.,
            Potter,S.C., Ravindrarajah,R., Ricketts,M.,
            Tashakkori-Ghanbaria,A., Waller,M.J., Weston,P., Widaa,S.,
            Whittaker,P., Barroso,I., Deloukas,P., Mathew,C.G., Blackwell,J.M.,
            Brown,M.A., Corvin,A.P., McCarthy,M.I., Spencer,C.C., Bramon,E.,
            Corvin,A.P., O'Donovan,M.C., Stefansson,K., Scolnick,E.,
            Purcell,S., McCarroll,S.A., Sklar,P., Hultman,C.M. and
            Sullivan,P.F.
  CONSRTM   Multicenter Genetic Studies of Schizophrenia Consortium; Psychosis
            Endophenotypes International Consortium; Wellcome Trust Case
            Control Consortium 2
  TITLE     Genome-wide association analysis identifies 13 new risk loci for
            schizophrenia
  JOURNAL   Nat Genet 45 (10), 1150-1159 (2013)
   PUBMED   23974872
REFERENCE   5  (residues 1 to 1349)
  AUTHORS   Ramsuran,V., Kulkarni,H., He,W., Mlisana,K., Wright,E.J.,
            Werner,L., Castiblanco,J., Dhanda,R., Le,T., Dolan,M.J., Guan,W.,
            Weiss,R.A., Clark,R.A., Karim,S.S., Ahuja,S.K. and Ndung'u,T.
  TITLE     Duffy-null-associated low neutrophil counts influence HIV-1
            susceptibility in high-risk South African black women
  JOURNAL   Clin Infect Dis 52 (10), 1248-1256 (2011)
   PUBMED   21507922
REFERENCE   6  (residues 1 to 1349)
  AUTHORS   Ocaka,L., Spalluto,C., Wilson,D.I., Hunt,D.M. and Halford,S.
  TITLE     Chromosomal localization, genomic organization and evolution of the
            genes encoding human phosphatidylinositol transfer protein
            membrane-associated (PITPNM) 1, 2 and 3
  JOURNAL   Cytogenet Genome Res 108 (4), 293-302 (2005)
   PUBMED   15627748
REFERENCE   7  (residues 1 to 1349)
  AUTHORS   Tomsig,J.L., Snyder,S.L. and Creutz,C.E.
  TITLE     Identification of targets for calcium signaling through the copine
            family of proteins. Characterization of a coiled-coil
            copine-binding motif
  JOURNAL   J Biol Chem 278 (12), 10048-10054 (2003)
   PUBMED   12522145
REFERENCE   8  (residues 1 to 1349)
  AUTHORS   Lev,S., Hernandez,J., Martinez,R., Chen,A., Plowman,G. and
            Schlessinger,J.
  TITLE     Identification of a novel family of targets of PYK2 related to
            Drosophila retinal degeneration B (rdgB) protein
  JOURNAL   Mol Cell Biol 19 (3), 2278-2288 (1999)
   PUBMED   10022914
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC073857.30 and AC026362.38.
            
            Summary: 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].
            
            ##Evidence-Data-START##
            CDS exon combination :: AF334585.1 [ECO:0000331]
            RNAseq introns       :: mixed sample support SAMEA1965299,
                                    SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000320201.10/ ENSP00000322218.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1349
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.31"
     Protein         1..1349
                     /product="membrane-associated phosphatidylinositol
                     transfer protein 2 isoform 1"
                     /note="PYK2 N-terminal domain-interacting receptor 3;
                     membrane-associated phosphatidylinositol transfer protein
                     2; retinal degeneration B alpha 2"
                     /calculated_mol_wt=148803
     Region          1..258
                     /region_name="SRPBCC_PITPNM1-2_like"
                     /note="Lipid-binding SRPBCC domain of mammalian PITPNM1-2
                     and related proteins (Class IIA PITPs); cd08889"
                     /db_xref="CDD:176898"
     Site            order(21..22,25,29,32,40,59,61,63,65,68,70,73,77,81..82,
                     84,86,88,90,95,97,99,102..103,109,111,192,198,200,210,
                     218..220,223)
                     /site_type="other"
                     /note="putative lipid binding site [chemical binding]"
                     /db_xref="CDD:176898"
     Site            65..83
                     /site_type="active"
                     /note="putative lipid exchange loop [active]"
                     /db_xref="CDD:176898"
     Site            order(118..147,153..177,186..187)
                     /site_type="active"
                     /note="putatative regulatory loop [active]"
                     /db_xref="CDD:176898"
     Site            164
                     /site_type="other"
                     /note="putative PKC phosphorylation site
                     [posttranslational modification]"
                     /db_xref="CDD:176898"
     Region          262..344
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BZ72.1)"
     Site            337
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6ZPQ6; propagated from
                     UniProtKB/Swiss-Prot (Q9BZ72.1)"
     Site            341
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6ZPQ6; propagated from
                     UniProtKB/Swiss-Prot (Q9BZ72.1)"
     Site            368
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6ZPQ6; propagated from
                     UniProtKB/Swiss-Prot (Q9BZ72.1)"
     Site            589
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6ZPQ6; propagated from
                     UniProtKB/Swiss-Prot (Q9BZ72.1)"
     Region          618..671
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BZ72.1)"
     Site            644
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9BZ72.1)"
     Site            700
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6ZPQ6; propagated from
                     UniProtKB/Swiss-Prot (Q9BZ72.1)"
     Site            701
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6ZPQ6; propagated from
                     UniProtKB/Swiss-Prot (Q9BZ72.1)"
     Site            702
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q6ZPQ6; propagated from
                     UniProtKB/Swiss-Prot (Q9BZ72.1)"
     Region          715..962
                     /region_name="DDHD"
                     /note="DDHD domain; pfam02862"
                     /db_xref="CDD:460725"
     Site            828
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q6ZPQ6; propagated from
                     UniProtKB/Swiss-Prot (Q9BZ72.1)"
     Region          876..900
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BZ72.1)"
     Region          1108..1239
                     /region_name="LNS2"
                     /note="This domain is found in Saccharomyces cerevisiae
                     protein SMP2, proteins with an N-terminal lipin domain and
                     phosphatidylinositol transfer proteins; smart00775"
                     /db_xref="CDD:197870"
     Site            1277
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9BZ72.1)"
     Region          1296..1326
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BZ72.1)"
     CDS             1..1349
                     /gene="PITPNM2"
                     /gene_synonym="NIR-3; NIR3; RDGB2; RDGBA2"
                     /coded_by="NM_020845.3:538..4587"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS9242.1"
                     /db_xref="GeneID:57605"
                     /db_xref="HGNC:HGNC:21044"
                     /db_xref="MIM:608920"
ORIGIN      
        1 miikeyripl pmtveeyria qlymiqkksr netygegsgv eilenrpytd gpggsgqyth
       61 kvyhvgmhip swfrsilpka alrvveeswn aypytrtrft cpfvekfsid ietfyktdag
      121 enpdvfnlsp veknqltidf idivkdpvph neykteedpk lfqstktqrg plsenwieey
      181 kkqvfpimca yklckvefry wgmqskierf ihdtglrrvm vrahrqawcw qdewyglsme
      241 nirelekeaq lmlsrkmaqf nedgeeatel vkheavsdqt sgeppepsss ngeplvgrgl
      301 kkqwstssks srsskrgasp srhsisewrm qsiardsdes sddeffdahe dlsdteemfp
      361 kditkwssnd lmdkiespep edtqdglyrq gapefrvass veqlniiede vsqplaapps
      421 kihvlllvlh ggtildtgag dpsskkgdan tianvfdtvm rvhypsalgr lairlvpcpp
      481 vcsdafalvs nlspyshdeg clsssqdhip laalpllats spqyqeavat viqranlayg
      541 dfiksqegmt fngqvcligd cvggilafda lcysnqpvse sqsssrrgsv vsmqdndlls
      601 pgilmnaahc cggggggggg ggssggggss ggsslessrh lsrsnvdipr sngtedpkrq
      661 lprkrsdsst yeldtiqqhq aflsslhasv lrtepcsrhs ssstmldgtg algrfdfeit
      721 dlflfgcplg lvlalrktvi paldvfqlrp acqqvynlfh padpsasrle pllerrfhal
      781 ppfsvpryqr yplgdgcstl ladvlqthna afqehgapss pgtapasrgf rraseisias
      841 qvsgmaesyt assiaqkapd alshtpsvrr lsllalpaps pttpgphppa rkaspglera
      901 pglpeldige vaakwwgqkr idyalycpda ltafptvalp hlfhasywes tdvvsfllrq
      961 vmrhdnssil eldgkevsvf tpskprekwq rkrthvklrn vtanhrinda lanedgpqvl
     1021 tgrfmygpld mvtltgekvd vhimtqppsg ewlyldtlvt nnsgrvsyti peshrlgvgv
     1081 ypikmvvrgd htfadsyitv lpkgtefvvf sidgsfaasv simgsdpkvr agavdvvrhw
     1141 qdlgyliiyv tgrpdmqkqr vvawlaqhnf phgvvsfcdg lvhdplrhka nflkllisel
     1201 hlrvhaaygs tkdvavysai slspmqiyiv grptkklqqq cqfitdgyaa hlaqlkyshr
     1261 arparntatr malrkgsfgl pgqgdflrsr nhllrtisaq psgpshrher tqsqadgeqr
     1321 gqrsmsvaag cwgramtgrl epgaaagpk
//
