PITPNM3 (PITPNM family member 3)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
83394
Gene name Gene Name - the full gene name approved by the HGNC.
PITPNM family member 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PITPNM3
Synonyms (NCBI Gene) Gene synonyms aliases
ACKR6, CORD5, NIR1, RDGBA3
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17p13.2-p13.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
608921 21043 ENSG00000091622
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
RITAKWWGSKRIDYALYCPDVLTAFPTVALPHLFHASYWESTDVVAFILRQVMRYESVNI
KESARLDPAALSPANPREKWLRKRTQVKLRNVTANHRANDVIAAEDGPQVLVGRFMYGPL
DMVALTGEKVDILVMAEPSSGRWVHLDTEITNSSGRITYNVPRPRRLGVGVYPVKMVVRG
DQTCAMSYLTVLPRGMECVVFSIDGSFAASVSIMGSDPKVRPGAVDVVRHWQDLGYMILY
ITGRPDMQKQRVVSWLSQHNFPQGMIFFSDGLVHDPLRQKAIFLRNLMQECFIKISAAYG
STKDISVYSVLGLPASQIFIVGRPTKKYQTQCQFLSEGYAAHLAALEASHRSRPKKNNSR
MILRKGSFGLHAQPEFLRKRNHLRRTMSVQQPDPPAANPKPERAQSQPESDKDHERPLPA
LSWARGPPKFESVP
Sequence length 974
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  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)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Cone Dystrophy cone dystrophy rs1905007623 N/A
cerebral arteriovenous malformation Cerebral arteriovenous malformation rs1555556099 N/A
Show/Hide Unknown Diseases (4)
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
Cone-rod dystrophy cone-rod dystrophy 5, Cone-Rod Dystrophy, Dominant N/A N/A ClinVar, GenCC
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
retinal dystrophy Retinal dystrophy N/A N/A ClinVar
Retinitis Pigmentosa retinitis pigmentosa N/A N/A ClinVar
Show/Hide Text Mining Associations (16)
Associations from Text Mining Disease 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