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PITPNM3 (PITPNM family member 3)

Identity

Alias_namesCORD5
cone rod dystrophy 5
Alias_symbol (synonym)NIR1
RDGBA3
ACKR6
Other alias
HGNC (Hugo) PITPNM3
LocusID (NCBI) 83394
Atlas_Id 47499
Location 17p13.2  [Link to chromosome band 17p13]
Location_base_pair Starts at 6451263 and ends at 6556557 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
KIAA0753 (17p13.2) / PITPNM3 (17p13.2)PITPNM3 (17p13.2) / STX8 (17p13.1)PITPNM3 17p13.2 / STX8 17p13.1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)PITPNM3   21043
Cards
Entrez_Gene (NCBI)PITPNM3  83394  PITPNM family member 3
AliasesACKR6; CORD5; NIR1; RDGBA3
GeneCards (Weizmann)PITPNM3
Ensembl hg19 (Hinxton)ENSG00000091622 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000091622 [Gene_View]  chr17:6451263-6556557 [Contig_View]  PITPNM3 [Vega]
ICGC DataPortalENSG00000091622
TCGA cBioPortalPITPNM3
AceView (NCBI)PITPNM3
Genatlas (Paris)PITPNM3
WikiGenes83394
SOURCE (Princeton)PITPNM3
Genetics Home Reference (NIH)PITPNM3
Genomic and cartography
GoldenPath hg38 (UCSC)PITPNM3  -     chr17:6451263-6556557 -  17p13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PITPNM3  -     17p13.2   [Description]    (hg19-Feb_2009)
EnsemblPITPNM3 - 17p13.2 [CytoView hg19]  PITPNM3 - 17p13.2 [CytoView hg38]
Mapping of homologs : NCBIPITPNM3 [Mapview hg19]  PITPNM3 [Mapview hg38]
OMIM600977   608921   
Gene and transcription
Genbank (Entrez)AB209130 AF334586 AI333030 AK297617 AL389994
RefSeq transcript (Entrez)NM_001165966 NM_031220
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PITPNM3
Cluster EST : UnigeneHs.183983 [ NCBI ]
CGAP (NCI)Hs.183983
Alternative Splicing GalleryENSG00000091622
Gene ExpressionPITPNM3 [ NCBI-GEO ]   PITPNM3 [ EBI - ARRAY_EXPRESS ]   PITPNM3 [ SEEK ]   PITPNM3 [ MEM ]
Gene Expression Viewer (FireBrowse)PITPNM3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)83394
GTEX Portal (Tissue expression)PITPNM3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BZ71   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BZ71  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BZ71
Splice isoforms : SwissVarQ9BZ71
PhosPhoSitePlusQ9BZ71
Domaine pattern : Prosite (Expaxy)DDHD (PS51043)   
Domains : Interpro (EBI)DDHD_dom    HAD-like_dom    LNS2/PITP    PI_transfer   
Domain families : Pfam (Sanger)DDHD (PF02862)   
Domain families : Pfam (NCBI)pfam02862   
Domain families : Smart (EMBL)DDHD (SM01127)  LNS2 (SM00775)  
Conserved Domain (NCBI)PITPNM3
DMDM Disease mutations83394
Blocks (Seattle)PITPNM3
SuperfamilyQ9BZ71
Human Protein AtlasENSG00000091622
Peptide AtlasQ9BZ71
HPRD07498
IPIIPI00307757   IPI00748829   
Protein Interaction databases
DIP (DOE-UCLA)Q9BZ71
IntAct (EBI)Q9BZ71
FunCoupENSG00000091622
BioGRIDPITPNM3
STRING (EMBL)PITPNM3
ZODIACPITPNM3
Ontologies - Pathways
QuickGOQ9BZ71
Ontology : AmiGOcalcium ion binding  protein binding  cytosol  phosphatidylinositol biosynthetic process  lipid binding  phosphatidylinositol transporter activity  endomembrane system  phospholipid transport  integral component of membrane  receptor tyrosine kinase binding  phosphatidylinositol metabolic process  
Ontology : EGO-EBIcalcium ion binding  protein binding  cytosol  phosphatidylinositol biosynthetic process  lipid binding  phosphatidylinositol transporter activity  endomembrane system  phospholipid transport  integral component of membrane  receptor tyrosine kinase binding  phosphatidylinositol metabolic process  
NDEx NetworkPITPNM3
Atlas of Cancer Signalling NetworkPITPNM3
Wikipedia pathwaysPITPNM3
Orthology - Evolution
OrthoDB83394
GeneTree (enSembl)ENSG00000091622
Phylogenetic Trees/Animal Genes : TreeFamPITPNM3
HOVERGENQ9BZ71
HOGENOMQ9BZ71
Homologs : HomoloGenePITPNM3
Homology/Alignments : Family Browser (UCSC)PITPNM3
Gene fusions - Rearrangements
Fusion : MitelmanPITPNM3/STX8 [17p13.2/17p13.1]  
Fusion: TCGAPITPNM3 17p13.2 STX8 17p13.1 KIRC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPITPNM3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PITPNM3
dbVarPITPNM3
ClinVarPITPNM3
1000_GenomesPITPNM3 
Exome Variant ServerPITPNM3
ExAC (Exome Aggregation Consortium)PITPNM3 (select the gene name)
Genetic variants : HAPMAP83394
Genomic Variants (DGV)PITPNM3 [DGVbeta]
DECIPHERPITPNM3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPITPNM3 
Mutations
ICGC Data PortalPITPNM3 
TCGA Data PortalPITPNM3 
Broad Tumor PortalPITPNM3
OASIS PortalPITPNM3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPITPNM3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPITPNM3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Eye diseases - LOVD
BioMutasearch PITPNM3
DgiDB (Drug Gene Interaction Database)PITPNM3
DoCM (Curated mutations)PITPNM3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PITPNM3 (select a term)
intoGenPITPNM3
Cancer3DPITPNM3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600977    608921   
Orphanet1843   
MedgenPITPNM3
Genetic Testing Registry PITPNM3
NextProtQ9BZ71 [Medical]
TSGene83394
GENETestsPITPNM3
Target ValidationPITPNM3
Huge Navigator PITPNM3 [HugePedia]
snp3D : Map Gene to Disease83394
BioCentury BCIQPITPNM3
ClinGenPITPNM3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD83394
Chemical/Pharm GKB GenePA134971883
Clinical trialPITPNM3
Miscellaneous
canSAR (ICR)PITPNM3 (select the gene name)
Probes
Litterature
PubMed11 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePITPNM3
EVEXPITPNM3
GoPubMedPITPNM3
iHOPPITPNM3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:49:36 CEST 2017

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