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 known as PYK2). The protein is homologous to a Drosophila protein that is implicated in the visual transduction pathway in fl... See more...

Aliases for PITPNM3 Gene

Aliases for PITPNM3 Gene

  • PITPNM Family Member 3 2 3 5
  • Phosphatidylinositol Transfer Protein, Membrane-Associated 3 3 4
  • Membrane-Associated Phosphatidylinositol Transfer Protein 3 3 4
  • Atypical Chemokine Receptor 6 2 3
  • Cone Rod Dystrophy 5 2 3
  • PITPnm 3 3 4
  • NIR-1 3 4
  • NIR1 3 4
  • PYK2 N-Terminal Domain-Interacting Receptor 1 3
  • Pyk2 N-Terminal Domain-Interacting Receptor 1 4
  • Retinal Degeneration B Alpha 3 3
  • RDGBA3 3
  • ACKR6 3
  • CORD5 3

External Ids for PITPNM3 Gene

Previous HGNC Symbols for PITPNM3 Gene

  • CORD5

Previous GeneCards Identifiers for PITPNM3 Gene

  • GC17M006303
  • GC17M006559
  • GC17M006299
  • GC17M006356
  • GC17M006357
  • GC17M006358
  • GC17M006360
  • GC17M006361

Summaries for PITPNM3 Gene

Entrez Gene Summary for PITPNM3 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 known as PYK2). The protein is homologous to a Drosophila protein that is implicated in the visual transduction pathway in flies. Mutations in this gene result in autosomal dominant cone dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]

GeneCards Summary for PITPNM3 Gene

PITPNM3 (PITPNM Family Member 3) is a Protein Coding gene. Diseases associated with PITPNM3 include Cone-Rod Dystrophy 5 and Arteriovenous Malformations Of The Brain. Among its related pathways are Metabolism and Glycerophospholipid biosynthesis. Gene Ontology (GO) annotations related to this gene include calcium ion binding and receptor tyrosine kinase binding. An important paralog of this gene is PITPNM2.

UniProtKB/Swiss-Prot Summary for PITPNM3 Gene

  • Catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes (in vitro) (By similarity). Binds calcium ions.

Additional gene information for PITPNM3 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PITPNM3 Gene

Genomics for PITPNM3 Gene

GeneHancer (GH) Regulatory Elements for PITPNM3 Gene

Promoters and enhancers for PITPNM3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J006554 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 +0.7 726 2.7 FOS ZBTB26 EZH2 ZNF341 DEK SP2 ZBTB17 POLR2A CHD2 E2F6 HSALNG0114193 PITPNM3 ENSG00000274860
GH17J006558 Promoter/Enhancer 0.7 Ensembl dbSUPER 500.7 -1.0 -1043 0.4 EZH2 SUZ12 HSALNG0114193 PITPNM3 RF00001-140 RNA5SP435 MF281437-028
GH17J006471 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 11 +84.3 84256 2.6 CTCF USF1 JUND ZIC2 ZNF423 REST ZBTB25 RAD21 EP300 TRIM22 PIMREG PITPNM3 AIPL1 WSCD1 piR-36611 piR-60315
GH17J006505 Enhancer 1.1 Ensembl ENCODE dbSUPER 11.4 +48.1 48141 6 JUND FOS ZIC2 EP300 BRCA1 HCFC1 FOSL2 YY1 CEBPB CHD2 PITPNM3 TXNDC17 piR-34822-129 piR-60315
GH17J006474 Enhancer 1.1 Ensembl ENCODE dbSUPER 11 +80.6 80568 3.2 RFX1 EP300 CTBP1 NR2F2 NFIC SMARCC1 CEBPB CHD2 JUN FOSL1 PIMREG PITPNM3 ENSG00000262089 piR-60315 piR-36611
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PITPNM3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PITPNM3

Top Transcription factor binding sites by QIAGEN in the PITPNM3 gene promoter:
  • ARP-1
  • CREB
  • deltaCREB
  • E2F
  • E2F-1
  • IRF-7A
  • ITF-2
  • NRSF form 1
  • NRSF form 2
  • Tal-1beta

Genomic Locations for PITPNM3 Gene

Genomic Locations for PITPNM3 Gene
chr17:6,450,344-6,556,557
(GRCh38/hg38)
Size:
106,214 bases
Orientation:
Minus strand
chr17:6,354,583-6,459,877
(GRCh37/hg19)
Size:
105,295 bases
Orientation:
Minus strand

Genomic View for PITPNM3 Gene

Genes around PITPNM3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PITPNM3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PITPNM3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PITPNM3 Gene

Proteins for PITPNM3 Gene

  • Protein details for PITPNM3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BZ71-PITM3_HUMAN
    Recommended name:
    Membrane-associated phosphatidylinositol transfer protein 3
    Protein Accession:
    Q9BZ71
    Secondary Accessions:
    • A1A5D0
    • F8WEW5
    • Q59GH9
    • Q9NPQ4

    Protein attributes for PITPNM3 Gene

    Size:
    974 amino acids
    Molecular mass:
    106781 Da
    Quaternary structure:
    • Interacts with PTK2B via its C-terminus.
    Miscellaneous:
    • [Isoform 2]: May be due to an intron retention.
    SequenceCaution:
    • Sequence=BAD92367.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for PITPNM3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PITPNM3 Gene

Post-translational modifications for PITPNM3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PITPNM3 Gene

No data available for DME Specific Peptides for PITPNM3 Gene

Domains & Families for PITPNM3 Gene

Gene Families for PITPNM3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for PITPNM3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PITPNM3 Gene

GenScript: Design optimal peptide antigens:
  • PITPNM family member 3 (A1A5C9_HUMAN)
  • Pyk2 N-terminal domain-interacting receptor 1 (PITM3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BZ71

UniProtKB/Swiss-Prot:

PITM3_HUMAN :
  • Belongs to the PtdIns transfer protein family. PI transfer class IIA subfamily.
Family:
  • Belongs to the PtdIns transfer protein family. PI transfer class IIA subfamily.
genes like me logo Genes that share domains with PITPNM3: view

Function for PITPNM3 Gene

Molecular function for PITPNM3 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes (in vitro) (By similarity). Binds calcium ions.

Phenotypes From GWAS Catalog for PITPNM3 Gene

Gene Ontology (GO) - Molecular Function for PITPNM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004620 phospholipase activity IBA 21873635
GO:0005509 calcium ion binding IDA 10022914
GO:0005515 protein binding IPI 21481794
GO:0005548 phospholipid transporter activity IEA --
GO:0008289 lipid binding IEA --
genes like me logo Genes that share ontologies with PITPNM3: view
genes like me logo Genes that share phenotypes with PITPNM3: view

Human Phenotype Ontology for PITPNM3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for PITPNM3 Gene

miRTarBase miRNAs that target PITPNM3

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PITPNM3

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for PITPNM3 Gene

Localization for PITPNM3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PITPNM3 Gene

Endomembrane system; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PITPNM3 gene
Compartment Confidence
cytosol 5
nucleus 3
plasma membrane 2
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PITPNM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005829 cytosol TAS --
GO:0012505 endomembrane system IEA --
GO:0016020 membrane IEA --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with PITPNM3: view

Pathways & Interactions for PITPNM3 Gene

genes like me logo Genes that share pathways with PITPNM3: view

Pathways by source for PITPNM3 Gene

Gene Ontology (GO) - Biological Process for PITPNM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0015914 phospholipid transport IEA --
genes like me logo Genes that share ontologies with PITPNM3: view

No data available for SIGNOR curated interactions for PITPNM3 Gene

Drugs & Compounds for PITPNM3 Gene

(1) Drugs for PITPNM3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Approved Nutra 7884

(382) Additional Compounds for PITPNM3 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
PC(18:1(9Z)e/2:0)
  • (2-Acetyloxy-3-octadec-9-enoxypropyl) 2-trimethylazaniumylethyl phosphate
  • 2-Acetyl-1-(9Z-octadecenyl)-sn-glycero-3-phosphocholine
  • PC(O-18:1(9Z)/2:0)
Phosphatidylcholines Group A
  • (Z,Z)-(1)-(7-Oleoyl-4-oxido-10-oxo-3,5,9-trioxa-4-phosphaheptacos-18-enyl)trimethylammonium 4-oxide
  • (Z,Z)-4-Hydroxy-N,N,N-trimethyl-10-oxo-7-[(1-oxo-9-octadecenyl)oxy]-3,5,9-trioxa-4-phosphaheptacos-18-en-1-aminium 4-oxide hydroxide inner salt
  • 1,2-Dioleoyl-rac-glycero-3-phosphocholine
  • 1,2-Dioleoylglycerol-3-phosphorylcholine
  • 1,2-Dioleoylglyceryl-3-phosphorylcholine
68737-67-7
Phosphatidylcholines Group B
  • 1-Hexadecyl-2-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phosphocholine
  • 2-(9Z,12Z-Octadecadienoyl)-1-hexadecyl-sn-glycero-3-phosphocholine
  • PC Ae C34:2
  • PC(16:0E/18:2(9Z,12Z))
  • PC(O-34:2)
88542-95-4
Phosphatidylinositol-3,4,5-trisphosphate
  • 1,2-Diacyl-sn-glycero-3-phospho-(1'-myo-inositol-3',4',5'-bisphosphate)
  • 1-Phosphatidyl-1D-myo-inositol 3,4,5-trisphosphate
PI(16:0/16:0)
  • 1,2-Dihexadecanoyl-rac-glycero-3-phospho-(1'-myo-inositol)
  • 1,2-Dipalmitoyl-rac-glycero-3-phosphoinositol
  • Phosphatidylinositol(16:0/16:0)
  • Phosphatidylinositol(32:0)
  • PI(32:0)
genes like me logo Genes that share compounds with PITPNM3: view

Transcripts for PITPNM3 Gene

mRNA/cDNA for PITPNM3 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PITPNM3

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PITPNM3 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b
SP1: -
SP2:
SP3: - -
SP4: -

Relevant External Links for PITPNM3 Gene

GeneLoc Exon Structure for
PITPNM3

Expression for PITPNM3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PITPNM3 Gene

Protein differential expression in normal tissues from HIPED for PITPNM3 Gene

This gene is overexpressed in Spleen (31.2) and Fetal Brain (26.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PITPNM3 Gene



Protein tissue co-expression partners for PITPNM3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PITPNM3

SOURCE GeneReport for Unigene cluster for PITPNM3 Gene:

Hs.183983

mRNA Expression by UniProt/SwissProt for PITPNM3 Gene:

Q9BZ71-PITM3_HUMAN
Tissue specificity: Detected in brain and spleen, and at low levels in ovary.

Evidence on tissue expression from TISSUES for PITPNM3 Gene

  • Nervous system(4.5)
  • Liver(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PITPNM3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • lacrimal apparatus
  • pituitary gland
Thorax:
  • breast
Pelvis:
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
General:
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with PITPNM3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for PITPNM3 Gene

Orthologs for PITPNM3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PITPNM3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PITPNM3 31 30
  • 98.26 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PITPNM3 31 30
  • 90.12 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pitpnm3 30
  • 89.9 (n)
mouse
(Mus musculus)
Mammalia Pitpnm3 17 31 30
  • 89.59 (n)
dog
(Canis familiaris)
Mammalia PITPNM3 31 30
  • 89.17 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 88 (a)
OneToMany
-- 31
  • 87 (a)
OneToMany
-- 31
  • 81 (a)
OneToMany
-- 31
  • 77 (a)
OneToMany
-- 31
  • 76 (a)
OneToMany
-- 31
  • 49 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia PITPNM3 31
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves PITPNM3 31 30
  • 70.73 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pitpnm3 30
  • 69.71 (n)
zebrafish
(Danio rerio)
Actinopterygii PITPNM3 (1 of 2) 31
  • 66 (a)
OneToMany
wu:fb08f09 30
  • 65.46 (n)
pitpnm3 31
  • 65 (a)
OneToMany
plrdgb 30
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 29 (a)
OneToOne
Species where no ortholog for PITPNM3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PITPNM3 Gene

ENSEMBL:
Gene Tree for PITPNM3 (if available)
TreeFam:
Gene Tree for PITPNM3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PITPNM3: view image

Paralogs for PITPNM3 Gene

Paralogs for PITPNM3 Gene

(3) SIMAP similar genes for PITPNM3 Gene using alignment to 3 proteins:

  • PITM3_HUMAN
  • A1A5C9_HUMAN
  • I3L1K1_HUMAN
genes like me logo Genes that share paralogs with PITPNM3: view

Variants for PITPNM3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PITPNM3 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
677205 Benign: not provided 6,474,348(-) C/A INTRON_VARIANT
677207 Benign: not provided 6,468,418(-) A/G INTRON_VARIANT
677223 Benign: not provided 6,484,162(-) G/C INTRON_VARIANT
712629 Benign: not provided 6,463,878(-) G/A SYNONYMOUS_VARIANT
725166 Likely Benign: not provided 6,468,306(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for PITPNM3 Gene

Structural Variations from Database of Genomic Variants (DGV) for PITPNM3 Gene

Variant ID Type Subtype PubMed ID
esv1197663 CNV deletion 17803354
esv2539012 CNV deletion 19546169
esv2715587 CNV deletion 23290073
esv3639841 CNV loss 21293372
nsv1070383 CNV deletion 25765185
nsv1126449 CNV deletion 24896259
nsv1131130 CNV deletion 24896259
nsv477788 CNV novel sequence insertion 20440878
nsv477807 CNV novel sequence insertion 20440878
nsv519881 CNV loss 19592680
nsv524539 CNV loss 19592680
nsv526449 CNV loss 19592680
nsv574278 CNV gain 21841781
nsv952115 CNV deletion 24416366

Variation tolerance for PITPNM3 Gene

Residual Variation Intolerance Score: 5.52% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.97; 74.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PITPNM3 Gene

Human Gene Mutation Database (HGMD)
PITPNM3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PITPNM3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PITPNM3 Gene

Disorders for PITPNM3 Gene

MalaCards: The human disease database

(11) MalaCards diseases for PITPNM3 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PITM3_HUMAN
  • Cone-rod dystrophy 5 (CORD5) [MIM:600977]: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. {ECO:0000269 PubMed:17377520}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PITPNM3

genes like me logo Genes that share disorders with PITPNM3: view

No data available for Genatlas for PITPNM3 Gene

Publications for PITPNM3 Gene

  1. Identification of a novel family of targets of PYK2 related to Drosophila retinal degeneration B (rdgB) protein. (PMID: 10022914) Lev S … Schlessinger J (Molecular and cellular biology 1999) 2 3 4 23 54
  2. Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families. (PMID: 17377520) Köhn L … Golovleva I (European journal of human genetics : EJHG 2007) 3 4 54
  3. E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins. (PMID: 29676528) Khanna R … Parnaik VK (The FEBS journal 2018) 3 54
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  5. A Role for Mitochondrial Translation in Promotion of Viability in K-Ras Mutant Cells. (PMID: 28700943) Martin TD … Elledge SJ (Cell reports 2017) 3 54

Products for PITPNM3 Gene

Sources for PITPNM3 Gene