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This gene encodes a cytoplasmic protein that catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes. This transfer activity is required for COPI complex-mediated retrograde transport from the Golgi apparatus to the endoplasmic reticulum. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2013] See more...
Aliases for PITPNB Gene
Aliases for PITPNB Gene
External Ids for PITPNB Gene
- HGNC: 9002
- NCBI Entrez Gene: 23760
- Ensembl: ENSG00000180957
- OMIM®: 606876
- UniProtKB/Swiss-Prot: P48739
Previous GeneCards Identifiers for PITPNB Gene
- GC22M024943
- GC22M026572
- GC22M028202
- GC22M011211
Summaries for PITPNB Gene
-
This gene encodes a cytoplasmic protein that catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes. This transfer activity is required for COPI complex-mediated retrograde transport from the Golgi apparatus to the endoplasmic reticulum. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2013]
GeneCards Summary for PITPNB Gene
PITPNB (Phosphatidylinositol Transfer Protein Beta) is a Protein Coding gene. Diseases associated with PITPNB include Cleft Soft Palate and Cerebellopontine Angle Tumor. Among its related pathways are PI Metabolism and Glycerophospholipid biosynthesis. Gene Ontology (GO) annotations related to this gene include lipid binding. An important paralog of this gene is PITPNA.
UniProtKB/Swiss-Prot Summary for PITPNB Gene
-
Catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes (PubMed:10531358, PubMed:18636990, PubMed:20332109). Also catalyzes the transfer of sphingomyelin (By similarity). Required for COPI-mediated retrograde transport from the Golgi to the endoplasmic reticulum; phosphatidylinositol and phosphatidylcholine transfer activity is essential for this function (PubMed:20332109).
Additional gene information for PITPNB Gene
- HGNC (9002)
- NCBI Entrez Gene (23760)
- Ensembl (ENSG00000180957)
- OMIM® (606876)
- UniProtKB/Swiss-Prot (P48739)
- Open Targets Platform(ENSG00000180957)
- Monarch Initiative
- Search for PITPNB at DataMed
- Search for PITPNB at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PITPNB Gene
Genomics for PITPNB Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for PITPNB Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around PITPNB on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PITPNB
- Top Transcription factor binding sites by QIAGEN in the PITPNB gene promoter:
-
- Evi-1
- GATA-6
- ISGF-3
- Meis-1
- Meis-1a
- Meis-1b
- PPAR-gamma2
- Sp1
- YY1
Genomic Locations for PITPNB Gene
Latest Assembly
- chr22:27,851,669-27,920,134
- (GRCh38/hg38)
- Size:
- 68,466 bases
- Orientation:
- Minus strand
Previous Assembly
- chr22:28,247,657-28,315,244
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 67,588 bases
- Orientation:
- Minus strand
- chr22:28,247,657-28,316,122
- (GRCh37/hg19 by Ensembl)
- Size:
- 68,466 bases
- Orientation:
- Minus strand
Genomic View for PITPNB Gene
Genes around PITPNB on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 22q12.1 by HGNC
- 22q12.1 by Entrez Gene
- 22q12.1 by Ensembl
PITPNB Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for PITPNB Gene
Proteins for PITPNB Gene
-
Protein details for PITPNB Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P48739-PIPNB_HUMAN
- Recommended name:
- Phosphatidylinositol transfer protein beta isoform
- Protein Accession:
- P48739
- B3KYB8
- B7Z7Q0
- Q8N5W1
Protein attributes for PITPNB Gene
- Size:
- 271 amino acids
- Molecular mass:
- 31540 Da
- Quaternary structure:
- No Data Available
Protein Expression for PITPNB Gene
Post-translational modifications for PITPNB Gene
- Constitutive phosphorylation of Ser-262 has no effect on phospholipid transfer activity but is required for Golgi targeting.
-
Ubiquitination at Lys5, Lys86, Lys104, Lys110, Lys179, Lys201, Lys208, Lys215, and Lys252
- NX_P48739 (NX_P48739-1)
- Modification sites at PhosphoSitePlus
Other Protein References for PITPNB Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- G Biosciences Immunotag™ PITPNB Antibody
- Novus Biologicals Antibodies for PITPNB
- Invitrogen Antibodies for PITPNB (AFLGC-PITPNB)
-
Boster Bio Antibodies for PITPNB
-
Santa Cruz Biotechnology (SCBT) Antibodies for PITPNB
- Sino Biological Antibodies for PITPNB
Protein products for research
-
OriGene Purified Proteins for PITPNB
- Search Origene for MassSpec and Protein Over-expression Lysates for PITPNB
- Origene Custom Protein Services for PITPNB
- ProSpec Recombinant Proteins for PITPNB
-
Abcam proteins for PITPNB
Assay products for research
No data available for DME Specific Peptides for PITPNB Gene
Domains & Families for PITPNB Gene
Gene Families for PITPNB Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for PITPNB Gene
- InterPro:
- Blocks:
-
- Phosphatidylinositol transfer protein signature
- ProtoNet:
Suggested Antigen Peptide Sequences for PITPNB Gene
- GenScript: Design optimal peptide antigens:
-
- Phosphatidylinositol transfer protein, beta (B3KYB5_HUMAN)
- cDNA FLJ53628, highly similar to Phosphatidylinositol transfer protein beta isoform (B7Z7Q0_HUMAN)
- Phosphatidylinositol transfer protein beta isoform (PIPNB_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P48739UniProtKB/Swiss-Prot:
PIPNB_HUMAN :- Belongs to the PtdIns transfer protein family. PI transfer class I subfamily.
- Family:
-
- Belongs to the PtdIns transfer protein family. PI transfer class I subfamily.
Function for PITPNB Gene
Molecular function for PITPNB Gene
- UniProtKB/Swiss-Prot Function:
- Catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes (PubMed:10531358, PubMed:18636990, PubMed:20332109). Also catalyzes the transfer of sphingomyelin (By similarity). Required for COPI-mediated retrograde transport from the Golgi to the endoplasmic reticulum; phosphatidylinositol and phosphatidylcholine transfer activity is essential for this function (PubMed:20332109).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=a 1,2-diacyl-sn-glycero-3-phosphocholine(in) = a 1,2-diacyl-sn-glycero-3-phosphocholine(out); Xref=Rhea:RHEA:38571, ChEBI:CHEBI:57643; Evidence={ECO:0000269|PubMed:18636990, ECO:0000269|PubMed:20332109};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol)(in) = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol)(out); Xref=Rhea:RHEA:38691, ChEBI:CHEBI:57880; Evidence={ECO:0000269|PubMed:10531358, ECO:0000269|PubMed:18636990, ECO:0000269|PubMed:20332109};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=an N-(acyl)-sphingosylphosphocholine(in) = an N-(acyl)-sphingosylphosphocholine(out); Xref=Rhea:RHEA:43776, ChEBI:CHEBI:64583; Evidence={ECO:0000250|UniProtKB:Q9TR36};.
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Phosphatidylinositol transfer activity is inhibited by N-ethylmaleimide.
- GENATLAS Biochemistry:
- phosphotidylinositol transfer protein, beta
Phenotypes From GWAS Catalog for PITPNB Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 32814053 |
| GO:0005548 | phospholipid transporter activity | IEA | -- |
| GO:0008289 | lipid binding | IEA | -- |
| GO:0008525 | phosphatidylcholine transporter activity | IDA | 16274224 |
| GO:0008526 | phosphatidylinositol transporter activity | IBA,IMP | 18636990 |
Phenotypes for PITPNB Gene
- MGI mutant phenotypes for PITPNB:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for PITPNB:
Animal Models for PITPNB Gene
- MGI Knock Outs for PITPNB:
-
- Pitpnb Pitpnb<tm1Vab>
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for PITPNB - Starting at $85 >
- * PITPNB CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for PITPNB
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PITPNB
-
Santa Cruz Biotechnology (SCBT) CRISPR for PITPNB
miRNA for PITPNB Gene
- miRTarBase miRNAs that target PITPNB
-
- hsa-miR-193b-3p (MIRT016434)
- hsa-miR-140-3p (MIRT021667)
- hsa-miR-215-5p (MIRT024573)
- hsa-miR-181a-5p (MIRT025104)
- hsa-miR-192-5p (MIRT026369)
- hsa-miR-1229-3p (MIRT036378)
- hsa-miR-30c-2-3p (MIRT038698)
- hsa-miR-190a-3p (MIRT087350)
- hsa-miR-5011-5p (MIRT087359)
- hsa-miR-26b-3p (MIRT555583)
- hsa-miR-4668-3p (MIRT555584)
- mmu-miR-5098 (MIRT589267)
- mmu-miR-1b-5p (MIRT589268)
- mmu-miR-466b-3p (MIRT589269)
- mmu-miR-466p-3p (MIRT589270)
- mmu-miR-466c-3p (MIRT589271)
- mmu-miR-466m-3p (MIRT589272)
- mmu-miR-466o-3p (MIRT589273)
- mmu-miR-467g (MIRT589274)
- mmu-miR-466a-3p (MIRT589275)
- mmu-miR-297b-3p (MIRT589276)
- mmu-miR-466e-3p (MIRT589277)
- mmu-miR-466d-3p (MIRT589278)
- mmu-miR-669f-3p (MIRT589279)
- mmu-miR-467f (MIRT589280)
- mmu-miR-466f-3p (MIRT589281)
- hsa-miR-573 (MIRT641029)
- hsa-miR-3616-5p (MIRT641030)
- hsa-miR-4795-5p (MIRT641031)
- hsa-miR-676-5p (MIRT641032)
- hsa-miR-215-3p (MIRT641033)
- hsa-miR-8060 (MIRT641034)
- hsa-miR-548o-3p (MIRT641035)
- hsa-miR-1323 (MIRT641036)
- hsa-miR-4432 (MIRT641037)
- hsa-miR-548g-3p (MIRT641038)
- hsa-miR-548f-3p (MIRT641039)
- hsa-miR-548e-3p (MIRT641040)
- hsa-miR-548az-3p (MIRT641041)
- hsa-miR-548ar-3p (MIRT641042)
- hsa-miR-548a-3p (MIRT641043)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PITPNB
- Browse OriGene Inhibitory RNA Products For PITPNB
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PITPNB
Clone products for research
- Applied Biological Materials (abm): Clones for PITPNB - Starting at $45 >
- * PITPNB as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for PITPNB
- Addgene plasmids for PITPNB
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PITPNB
Cell Lines for research
-
Horizon Cell Lines for PITPNB
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PITPNB Gene
Localization for PITPNB Gene
Subcellular locations from UniProtKB/Swiss-Prot for PITPNB Gene
- Golgi apparatus. Golgi apparatus membrane. Endoplasmic reticulum membrane.
| Compartment | Confidence |
|---|---|
| golgi apparatus | 4 |
| cytosol | 3 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| nucleus | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
- Cytosol (2)
- Vesicles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | TAS | -- |
| GO:0005737 | cytoplasm | IBA | 21873635 |
| GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
| GO:0005794 | Golgi apparatus | ISS | -- |
Pathways & Interactions for PITPNB Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Glycerophospholipid biosynthesis | ||
| 2 | Metabolism |
.40
|
|
| 3 | PI Metabolism |
.63
|
|
Pathways by source for PITPNB Gene
6 Reactome pathways for PITPNB Gene
Interacting Proteins for PITPNB Gene
Selected Interacting proteins:
ENSP00000321266
P48739-PIPNB_HUMAN
for PITPNB Gene via
STRING
UniProtKB
MINT
IID
GPS-Prot Interaction Network for PITPNB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006629 | lipid metabolic process | NAS | 8541325 |
| GO:0006890 | retrograde vesicle-mediated transport, Golgi to ER | TAS | 22822086 |
| GO:0006997 | nucleus organization | TAS | 22822086 |
| GO:0015914 | phospholipid transport | IEA,TAS | -- |
| GO:0120009 | intermembrane lipid transfer | IEA | -- |
No data available for SIGNOR curated interactions for PITPNB Gene
Drugs & Compounds for PITPNB Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| L-Dilinoleoyllecithin | Experimental | Pharma | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| CE(22:0) |
|
61510-09-6 |
|
|||
| PC(18:1(9Z)e/2:0) |
|
|
||||
| PC(20:2(11Z,14Z)/18:1(11Z)) |
|
|
||||
| PC(22:4(7Z,10Z,13Z,16Z)/18:1(11Z)) |
|
2461-62-3 |
|
|||
| Phosphatidylcholines Group A |
|
4235-95-4, 18194-24-6, 92345-33-0, 944466-40-4, 253127-60-5, 203393-41-3, 85046-19-1, 56421-10-4, 53595-24-7, 27098-24-4, 59403-51-9, 85082-02-6, 26853-31-6, 17708-90-6, 203393-39-9, 35418-59-8, 17041-44-0, 35418-58-7, 2701-19-1, 1191905-21-1, 85082-03-7, 324054-21-9, 182820-31-1 |
|
Transcripts for PITPNB Gene
mRNA/cDNA for PITPNB Gene
- 3 REFSEQ mRNAs :
- 12 NCBI additional mRNA sequence :
- 11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000320996 2826 nts (view in UCSC)
- ENST00000335272 2914 nts (view in UCSC)
- ENST00000415296 884 nts (view in UCSC)
- ENST00000436663 590 nts (view in UCSC)
- ENST00000455418 2963 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for PITPNB - Starting at $85 >
- * PITPNB CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for PITPNB
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PITPNB
-
Santa Cruz Biotechnology (SCBT) CRISPR for PITPNB
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PITPNB
- Browse OriGene Inhibitory RNA Products For PITPNB
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PITPNB
Clone products for research
- Applied Biological Materials (abm): Clones for PITPNB - Starting at $45 >
- * PITPNB as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for PITPNB
- Addgene plasmids for PITPNB
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PITPNB
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||
| SP3: |
Relevant External Links for PITPNB Gene
- GeneLoc Exon Structure for
- PITPNB
Expression for PITPNB Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PITPNB Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PITPNB
SOURCE GeneReport for Unigene cluster for PITPNB Gene:
Hs.705323mRNA Expression by UniProt/SwissProt for PITPNB Gene:
P48739-PIPNB_HUMAN
Tissue specificity:
Widely expressed in various tissues including brain.
Evidence on tissue expression from TISSUES for PITPNB Gene
- Nervous system(4.8)
- Skin(4.4)
- Liver(2.4)
- Kidney(2.1)
Primer products for research
-
OriGene qPCR primer pairs for PITPNB
-
OriGene qPCR primer pairs and template standards for PITPNB
Gene Expression Assays for research
No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PITPNB Gene
Orthologs for PITPNB Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | PITPNB 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | PITPNB 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | PITPNB 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| -- 31 |
|
OneToMany | |||
| Rat (Rattus norvegicus) |
Mammalia | Pitpnb 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Pitpnb 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | PITPNB 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | PITPNB 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | PITPNB 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pitpnb.2 30 |
|
||
| MGC75853 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.8543 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | pitpnb 30 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | vib 30 31 32 |
|
OneToMany | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP001957 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | CELE_Y54F10AR.1 30 |
|
||
| Y54F10AR.1 31 32 |
|
OneToMany | |||
| Y71G12B.17 32 |
|
|
|||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.9844 31 |
|
OneToMany | |
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.12029 30 |
|
- Species where no ortholog for PITPNB was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- 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)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- 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)
Evolution for PITPNB Gene
- ENSEMBL:
- Gene Tree for PITPNB (if available)
- TreeFam:
- Gene Tree for PITPNB (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for PITPNB: view image
Paralogs for PITPNB Gene
Variants for PITPNB Gene
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv2452n106 | CNV | deletion | 24896259 |
| nsv1071787 | CNV | deletion | 25765185 |
| nsv588878 | CNV | loss | 21841781 |
Residual Variation Intolerance Score:
34.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.04;
0.99% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for PITPNB Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- PITPNB
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PITPNB Gene
Disorders for PITPNB Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| cleft soft palate |
|
|
| cerebellopontine angle tumor |
|
|
| ankyloglossia with or without tooth anomalies |
|
|
| bardet-biedl syndrome 1 |
|
|
Search PITPNB in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for PITPNB
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for PITPNB Gene
Publications for PITPNB Gene
- Phosphatidylinositol- and phosphatidylcholine-transfer activity of PITPbeta is essential for COPI-mediated retrograde transport from the Golgi to the endoplasmic reticulum. (PMID: 20332109) Carvou N … Cockcroft S (Journal of cell science 2010) 3 4 23
- The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 2 3 4
- Cloning and expression of human cDNA encoding phosphatidylinositol transfer protein beta. (PMID: 8541325) Tanaka S … Hosaka K (Biochimica et biophysica acta 1995) 3 4 23
- Dynamics of lipid transfer by phosphatidylinositol transfer proteins in cells. (PMID: 18636990) Shadan S … Cockcroft S (Traffic (Copenhagen, Denmark) 2008) 3 4
- Structure of PITPbeta in complex with phosphatidylcholine: comparison of structure and lipid transfer to other PITP isoforms. (PMID: 16274224) Vordtriede PB … Yoder MD (Biochemistry 2005) 3 23
ExternalLinks
Products for PITPNB Gene
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Sources for PITPNB Gene
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