Gene Gene information from NCBI Gene database.
Entrez ID 83394
Gene name PITPNM family member 3
Gene symbol PITPNM3
Synonyms (NCBI Gene)
ACKR6CORD5NIR1RDGBA3
Chromosome 17
Chromosome location 17p13.2-p13.1
Summary This gene encodes a member of a family of membrane-associated phosphatidylinositol transfer domain-containing proteins. The calcium-binding protein has phosphatidylinositol (PI) transfer activity and interacts with the protein tyrosine kinase PTK2B (also
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs76024428 C>G Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance Genic downstream transcript variant, missense variant, coding sequence variant
rs139901820 G>A Conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant, genic downstream transcript variant
rs146899730 C>T Conflicting-interpretations-of-pathogenicity, uncertain-significance Coding sequence variant, downstream transcript variant, synonymous variant, genic downstream transcript variant
rs1555556099 G>A Pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
665
miRTarBase ID miRNA Experiments Reference
MIRT627860 hsa-miR-3667-3p HITS-CLIP 19536157
MIRT622732 hsa-miR-7110-3p HITS-CLIP 19536157
MIRT622731 hsa-miR-6817-3p HITS-CLIP 19536157
MIRT627859 hsa-miR-6728-3p HITS-CLIP 19536157
MIRT627858 hsa-miR-4297 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0004620 Function Phospholipase activity IBA
GO:0005509 Function Calcium ion binding IDA 10022914
GO:0005515 Function Protein binding IPI 10022914, 21481794
GO:0005548 Function Phospholipid transporter activity IEA
GO:0005737 Component Cytoplasm IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608921 21043 ENSG00000091622
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BZ71
Protein name Membrane-associated phosphatidylinositol transfer protein 3 (Phosphatidylinositol transfer protein, membrane-associated 3) (PITPnm 3) (Pyk2 N-terminal domain-interacting receptor 1) (NIR-1)
Protein function Catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes (in vitro) (By similarity). Binds calcium ions.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02862 DDHD 390 593 DDHD domain Family
Tissue specificity TISSUE SPECIFICITY: Detected in brain and spleen, and at low levels in ovary. {ECO:0000269|PubMed:10022914}.
Sequence
MAKAGRAGGPPPGGGAPWHLRNVLSDSVESSDDEFFDAREEMAEGKNAILIGMSQWNSND
LVEQIETMGKLDEHQGEGTAPCTSSILQEKQRELYRVSLRRQRFPAQGSIEIHEDSEEGC
PQRSCKTHVLLLVLHGGNILDTGAGDPSCKAADIHTFSSVLEKVTRAHFPAALGHILIKF
VPCPAICSEAFSLVSHLNPYSHDEGCLSSSQDHVPLAALPLLAISSPQYQDAVATVIERA
NQVYREFLKSSDGIGFSGQVCLIGDCVGGLLAFDAICYSAGPSGDSPASSSRKGSISSTQ
DTPVAVEEDCSLASSKRLSKSNIDISSGLEDEEPKRPLPRKQSDSSTYDCEAITQHHAFL
SSIHSSVLKDESETPAAGGPQLPEVSLGRFDFDVSDFFLFGSPLGLVLAMRRTVLPGLDG
FQVRPACSQVYSFFHCADPSASRLEPLLEPKFHLVPPVSVPRYQRFPLGDGQSLLLADAL
HTHSPLFLEGSSRDSPPLLDAPASPPQASRFQRPGRRMSEGSSHSESSESSDSMAPVGAS
RITAKWWGSKRIDYALYCPDVLTAFPTVALPHLFHASYWESTDVVAFILRQVM
RYESVNI
KESARLDPAALSPANPREKWLRKRTQVKLRNVTANHRANDVIAAEDGPQVLVGRFMYGPL
DMVALTGEKVDILVMAEPSSGRWVHLDTEITNSSGRITYNVPRPRRLGVGVYPVKMVVRG
DQTCAMSYLTVLPRGMECVVFSIDGSFAASVSIMGSDPKVRPGAVDVVRHWQDLGYMILY
ITGRPDMQKQRVVSWLSQHNFPQGMIFFSDGLVHDPLRQKAIFLRNLMQECFIKISAAYG
STKDISVYSVLGLPASQIFIVGRPTKKYQTQCQFLSEGYAAHLAALEASHRSRPKKNNSR
MILRKGSFGLHAQPEFLRKRNHLRRTMSVQQPDPPAANPKPERAQSQPESDKDHERPLPA
LSWARGPPKFESVP
Sequence length 974
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Synthesis of PI
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
243
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cerebral arteriovenous malformation Pathogenic rs1555556099 RCV000656324
Cone dystrophy Pathogenic rs1905007623 RCV001199720
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cone-rod dystrophy 5 Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity rs77580616, rs750932326, rs775491788, rs368515060, rs76024428, rs138671220, rs139119218, rs11654175, rs146899730, rs61755429, rs367702668, rs148451236, rs11654099, rs73346359, rs938288
View all (142 more)
RCV000348714
RCV001335165
RCV002488278
RCV002471143
RCV000002071
RCV001122614
RCV000297049
RCV000266401
RCV000291683
RCV001128420
RCV000343196
RCV000269181
RCV000383674
RCV000344171
RCV000334970
RCV000405056
RCV000404139
RCV000333183
RCV000375929
RCV000293177
RCV000338826
RCV000370981
RCV000363560
RCV000319719
RCV000360835
RCV000406096
RCV000302775
RCV000272630
RCV000333403
RCV000286999
RCV000397060
RCV000314445
RCV000354021
RCV000380413
RCV000322443
RCV000305194
RCV000326606
RCV000282242
RCV000303535
RCV000365269
RCV000336552
RCV000287398
RCV000397862
RCV000380263
RCV000351796
RCV000404185
RCV000375528
RCV000317404
RCV000283602
RCV000347990
RCV000306384
RCV000366804
RCV000352464
RCV000403462
RCV000355498
RCV000265204
RCV000384582
RCV000387920
RCV000386888
RCV000363448
RCV000274623
RCV000335251
RCV000304660
RCV000397871
RCV000310344
RCV000284457
RCV000396468
RCV000287509
RCV000326869
RCV000309132
RCV000403076
RCV000283783
RCV000393371
RCV000354224
RCV000357545
RCV000304564
RCV000272448
RCV000275881
RCV000279103
RCV000406584
RCV000280101
RCV000314827
RCV000336964
RCV000405770
RCV000387994
RCV000274946
RCV000330277
RCV000281007
RCV000372221
RCV000342094
RCV000262665
RCV000320094
RCV000261536
RCV000391440
RCV000327733
RCV000296173
RCV000306475
RCV000385407
RCV000379494
RCV000340023
RCV001125305
RCV001125306
RCV002482099
RCV001128419
RCV001125843
RCV001125844
RCV001125845
RCV001125846
RCV001127957
RCV001127958
RCV001127959
RCV001122198
RCV001122199
RCV001122200
RCV001122201
RCV001122202
RCV001124978
RCV001128056
RCV001128057
RCV001122294
RCV001125085
RCV001125086
RCV001125087
RCV001126059
RCV001126060
RCV001126061
RCV001126062
RCV001128149
RCV001122414
RCV001122415
RCV001122416
RCV001122417
RCV001122418
RCV001125194
RCV001125195
RCV001125196
RCV001126174
RCV001126175
RCV001128248
RCV001122516
RCV001122517
RCV001122518
RCV001125307
RCV001126279
RCV001126280
RCV001128326
RCV001128327
RCV001128328
RCV001128329
RCV001122615
RCV001123700
RCV001123701
RCV001123702
RCV001123703
RCV001126369
RCV001126370
RCV001122714
RCV001122715
RCV001199221
Cone-Rod Dystrophy, Dominant Uncertain significance; Likely benign; Benign rs1555549891, rs879195140, rs886053279, rs1555549918, rs112833778, rs886053291, rs552929922, rs886053277, rs753516251, rs553650590, rs796340486, rs570855209, rs560454526, rs57661669, rs61555153
View all (13 more)
RCV000325627
RCV000385677
RCV000339370
RCV000402622
RCV000296515
RCV000281899
RCV000363791
RCV000331078
RCV000282006
RCV000278104
RCV000265837
RCV000384762
RCV000381518
RCV000268959
RCV000403937
RCV000363378
RCV000359426
RCV000270701
RCV000365241
RCV000276041
RCV000318367
RCV000271638
RCV000342467
RCV000358036
RCV000323487
RCV000317996
RCV000342390
RCV000308906
RCV000320912
RCV000351364
RCV000385613
RCV000296953
RCV000295274
PITPNM3-related disorder Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance rs766116886, rs111643862, rs199586869, rs771991481, rs142145870, rs76024428, rs138671220, rs139901820, rs61755429, rs148451236, rs2543962672, rs771598616, rs74878323, rs74748737, rs146033772
View all (5 more)
RCV003938754
RCV003953788
RCV003938746
RCV003921182
RCV003958607
RCV003934792
RCV003945210
RCV003937592
RCV003907598
RCV003937645
RCV003418951
RCV003410911
RCV003962015
RCV003940285
RCV003910238
RCV003912347
RCV003975562
RCV003958173
RCV003906151
RCV003963129
Retinal dystrophy Uncertain significance; Conflicting classifications of pathogenicity rs148826628, rs76024428, rs2150711588, rs759141007, rs1914044665, rs143807935, rs974807683, rs949951182, rs766391410, rs757430953 RCV004815396
RCV004814793
RCV004818397
RCV004813687
RCV001075574
RCV001075133
RCV001073866
RCV001075639
RCV001075050
RCV004815310
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 21481794
Carcinoma Hepatocellular Associate 26449829
Carcinoma Pancreatic Ductal Associate 29670110
Cholangiocarcinoma Associate 35609322
Colorectal Neoplasms Associate 27309477
Cone Dystrophy Associate 20590364, 23734073
Glioblastoma Associate 35955670
Hypertensive Retinopathy Associate 29176531
Hypoxia Stimulate 35955670
Mouth Neoplasms Associate 32641093