Seroatlas · Human Serome Atlas

PITPNM2

Membrane-associated phosphatidylinositol transfer protein 2

Also known as: NIR3, PITM2_HUMAN, RDGB2, RDGBA2

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9BZ72
Gene: PITPNM2
Ensembl: ENSG00000090975
Chromosome: 12
Canonical length: 1349 aa
Protein class: Plasma proteins, Predicted intracellular proteins
Subcellular location: Vesicles

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

1349 residues, UniProt reviewed canonical sequence.

>Q9BZ72|PITPNM2
     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

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PITPNM2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.4
Highest tissue expression: 79 nTPM

Expression across tissuesHPA

Tissue

thymus: 79 nTPM
liver: 27 nTPM
ovary: 22 nTPM
cerebral cortex: 21 nTPM
cerebellum: 19 nTPM
kidney: 19 nTPM

Single-cell type

cone photoreceptor cells: 573 nCPM
choroid plexus epithelial cells: 439 nCPM
platelets: 260 nCPM
distal convoluted tubule cells: 204 nCPM
rod photoreceptor cells: 200 nCPM
retinal horizontal cells: 198 nCPM

Immune cell

NK-cell: 1.9 nTPM
gdT-cell: 0.7 nTPM
total PBMC: 0.7 nTPM
memory CD8 T-cell: 0.6 nTPM
naive CD4 T-cell: 0.5 nTPM
naive CD8 T-cell: 0.4 nTPM

Brain region

choroid plexus: 65 nTPM
hippocampal formation: 52 nTPM
cerebral cortex: 52 nTPM
basal ganglia: 50 nTPM
amygdala: 49 nTPM
cerebellum: 39 nTPM

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.18
gnomAD pLI: 1
gnomAD missense Z: 4.13
DepMap mean gene effect: -0.02
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

phosphatidylinositol biosynthetic process

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of PITPNM2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PITPNM2 as an antibody target. Whether an autoantibody or antibody against PITPNM2 could matter depends on whether native PITPNM2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PITPNM2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label PITPNM2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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