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The protein encoded by this gene binds RNA and is a regulator of cell differentiation. The encoded protein preferentially binds to poly(G) and poly(U) sequences in vitro. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] See more...
Aliases for PTBP3 Gene
Aliases for PTBP3 Gene
External Ids for PTBP3 Gene
- HGNC: 10253
- Entrez Gene: 9991
- Ensembl: ENSG00000119314
- OMIM: 607527
- UniProtKB: O95758
Previous HGNC Symbols for PTBP3 Gene
- ROD1
Previous GeneCards Identifiers for PTBP3 Gene
- GC09M114981
Summaries for PTBP3 Gene
-
The protein encoded by this gene binds RNA and is a regulator of cell differentiation. The encoded protein preferentially binds to poly(G) and poly(U) sequences in vitro. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
GeneCards Summary for PTBP3 Gene
PTBP3 (Polypyrimidine Tract Binding Protein 3) is a Protein Coding gene. Diseases associated with PTBP3 include Prune Belly Syndrome and Frontometaphyseal Dysplasia. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is PTBP1.
UniProtKB/Swiss-Prot Summary for PTBP3 Gene
-
RNA-binding protein that mediates pre-mRNA alternative splicing regulation. Plays a role in the regulation of cell proliferation, differentiation and migration. Positive regulator of EPO-dependent erythropoiesis. Participates in cell differentiation regulation by repressing tissue-specific exons. Promotes FAS exon 6 skipping. Binds RNA, preferentially to both poly(G) and poly(U).
Additional gene information for PTBP3 Gene
- HGNC(10253)
- Entrez Gene(9991)
- Ensembl(ENSG00000119314)
- OMIM(607527)
- UniProtKB(O95758)
- Open Targets Platform(ENSG00000119314)
- Search for PTBP3 at DataMed
- Search for PTBP3 at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PTBP3 Gene
Genomics for PTBP3 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for PTBP3 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 PTBP3 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PTBP3
Genomic Locations for PTBP3 Gene
Genomic Locations for PTBP3 Gene
- chr9:112,217,715-112,333,669
- (GRCh38/hg38)
- Size:
- 115,955 bases
- Orientation:
- Minus strand
- chr9:114,980,715-115,095,947
- (GRCh37/hg19)
- Size:
- 115,233 bases
- Orientation:
- Minus strand
Genomic View for PTBP3 Gene
Genes around PTBP3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 9q32 by HGNC
- 9q32 by Entrez Gene
- 9q32 by Ensembl
PTBP3 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 PTBP3 Gene
Proteins for PTBP3 Gene
-
Protein details for PTBP3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O95758-PTBP3_HUMAN
- Recommended name:
- Polypyrimidine tract-binding protein 3
- Protein Accession:
- O95758
- B1ALY2
- B1ALY3
- B1ALY5
- B1ALY6
- B3KME7
- Q68DB9
- Q86YB3
- Q86YH9
Protein attributes for PTBP3 Gene
- Size:
- 552 amino acids
- Molecular mass:
- 59690 Da
- Quaternary structure:
-
- Interacts with THBS4 (via the acidic amphipathic C-terminus).
- SequenceCaution:
-
- Sequence=AAH39896.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAA75466.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BI463123; Type=Frameshift; Evidence={ECO:0000305};
Protein Expression for PTBP3 Gene
Post-translational modifications for PTBP3 Gene
Other Protein References for PTBP3 Gene
Antibody Products
- Creative Diagnostics Anti-PTBP3 monoclonal antibody, clone 5D0
- Creative Biolabs Recombinant Mouse Anti-Human ROD1 Antibody
- Novus Biologicals Antibodies for PTBP3
- Invitrogen Antibodies for PTBP3 (AFLGC-PTBP3)
-
Santa Cruz Biotechnology (SCBT) Antibodies for PTBP3
Protein Products
-
OriGene Purified Proteins for PTBP3
- Search Origene for MassSpec and Protein Over-expression Lysates for PTBP3
- Origene Custom Protein Services for PTBP3
- antibodies-online: Show 4 available PTBP3 Proteins ranked by validation data
- Compare Top PTBP3 Proteins
-
Quality Products:
-
Abcam proteins for PTBP3
No data available for DME Specific Peptides for PTBP3 Gene
Domains & Families for PTBP3 Gene
Gene Families for PTBP3 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for PTBP3 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for PTBP3 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ51619, highly similar to Regulator of differentiation 1 (B1ALY5_HUMAN)
- Regulator of differentiation 1 (ROD1_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PTBP3 Gene
Function for PTBP3 Gene
Molecular function for PTBP3 Gene
- UniProtKB/Swiss-Prot Function:
- RNA-binding protein that mediates pre-mRNA alternative splicing regulation. Plays a role in the regulation of cell proliferation, differentiation and migration. Positive regulator of EPO-dependent erythropoiesis. Participates in cell differentiation regulation by repressing tissue-specific exons. Promotes FAS exon 6 skipping. Binds RNA, preferentially to both poly(G) and poly(U).
Phenotypes From GWAS Catalog for PTBP3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003676 | nucleic acid binding | IEA | -- |
| GO:0003723 | RNA binding | TAS,HDA | 22658674 |
| GO:0003729 | mRNA binding | IBA | 21873635 |
Phenotypes for PTBP3 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PTBP3 - Select products 50% OFF >
- * PTBP3 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for PTBP3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PTBP3
-
Santa Cruz Biotechnology (SCBT) CRISPR for PTBP3
miRNA for PTBP3 Gene
- miRTarBase miRNAs that target PTBP3
-
- mmu-miR-181a-5p (MIRT014333)
- hsa-miR-124-3p (MIRT022729)
- hsa-miR-221-3p (MIRT024160)
- hsa-miR-21-5p (MIRT030890)
- hsa-miR-1229-3p (MIRT036365)
- hsa-miR-484 (MIRT041782)
- hsa-miR-324-3p (MIRT042966)
- hsa-miR-30c-5p (MIRT047996)
- hsa-miR-197-3p (MIRT048115)
- hsa-miR-210-3p (MIRT054186)
- hsa-miR-181a-5p (MIRT106868)
- hsa-miR-181b-5p (MIRT106869)
- hsa-miR-181c-5p (MIRT106870)
- hsa-miR-181d-5p (MIRT106872)
- hsa-miR-4262 (MIRT106875)
- hsa-miR-7154-5p (MIRT106878)
- hsa-miR-373-5p (MIRT323959)
- hsa-miR-616-5p (MIRT323960)
- hsa-miR-371b-5p (MIRT323962)
- hsa-miR-205-3p (MIRT364362)
- hsa-miR-3613-3p (MIRT393731)
- hsa-miR-548x-3p (MIRT534937)
- hsa-miR-548j-3p (MIRT534938)
- hsa-miR-548aq-3p (MIRT534939)
- hsa-miR-548am-3p (MIRT534940)
- hsa-miR-548aj-3p (MIRT534941)
- hsa-miR-548ah-3p (MIRT534942)
- hsa-miR-548ae-3p (MIRT534943)
- hsa-miR-5089-3p (MIRT555168)
- hsa-miR-580-3p (MIRT555169)
- hsa-miR-222-3p (MIRT555170)
- hsa-miR-548v (MIRT555171)
- hsa-miR-187-5p (MIRT555172)
- hsa-miR-891b (MIRT555173)
- hsa-miR-15b-3p (MIRT555174)
- hsa-miR-8060 (MIRT555175)
- hsa-miR-4728-3p (MIRT555176)
- hsa-miR-4712-3p (MIRT555177)
- hsa-miR-4672 (MIRT566238)
- hsa-miR-5582-5p (MIRT566239)
- hsa-miR-6768-5p (MIRT566240)
- hsa-miR-3910 (MIRT566241)
- hsa-miR-3714 (MIRT566242)
- hsa-miR-506-3p (MIRT566243)
- hsa-miR-6772-3p (MIRT630576)
- hsa-miR-4448 (MIRT630577)
- hsa-miR-4268 (MIRT630578)
- hsa-miR-548o-3p (MIRT630579)
- hsa-miR-1323 (MIRT630580)
- hsa-miR-4496 (MIRT630581)
- hsa-miR-6835-3p (MIRT630582)
- hsa-miR-377-3p (MIRT666780)
- hsa-miR-3941 (MIRT666781)
- hsa-miR-603 (MIRT666782)
- hsa-miR-8485 (MIRT666783)
- hsa-miR-607 (MIRT722098)
- hsa-miR-29b-2-5p (MIRT722099)
- hsa-miR-6715b-3p (MIRT722100)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PTBP3
- Browse OriGene Inhibitory RNA Products For PTBP3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PTBP3
Clone Products
- Applied Biological Materials (abm): Clones for PTBP3 - Select products 50% OFF >
- * PTBP3 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG208328
- MG208377
- MR208328
- MR208328L3
- MR208328L4
- MR208377
- MR208377L3
- MR208377L4
- RC211812
- RC211812L3
- RC211812L4
- RC228427
- RC228427L3
- RC228427L4
- RC228447
- RC228447L3
- RC228447L4
- RC232780
- RC232955
- RC232969
- RG211812
- RG228427
- RG228447
- RG232780
- RG232955
- RG232969
- RR207478
- RR207478L3
- RR207478L4
- MR208328L3V
- MR208328L4V
- MR208377L3V
- MR208377L4V
- RC211812L3V
- RC211812L4V
- RC228427L3V
- RC228427L4V
- RC228447L3V
- RC228447L4V
- RR207478L3V
- RR207478L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for PTBP3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PTBP3
Cell Line Products
-
Horizon Cell Lines for PTBP3
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PTBP3 Gene
Localization for PTBP3 Gene
| Compartment | Confidence |
|---|---|
| nucleus | 4 |
| cytoskeleton | 3 |
| plasma membrane | 2 |
| cytosol | 2 |
| extracellular | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IBA | 21873635 |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for PTBP3 Gene
Pathways & Interactions for PTBP3 Gene
Interacting Proteins for PTBP3 Gene
Selected Interacting proteins:
O95758-PTBP3_HUMAN
ENSP00000414921
for PTBP3 Gene via
MINT
STRING
IID
GPS-Prot Interaction Network for PTBP3
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006397 | mRNA processing | IEA | -- |
| GO:0006417 | regulation of translation | IBA | 21873635 |
| GO:0008380 | RNA splicing | IEA | -- |
| GO:0009653 | anatomical structure morphogenesis | TAS | 10207106 |
| GO:0030154 | cell differentiation | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for PTBP3 Gene
Transcripts for PTBP3 Gene
mRNA/cDNA for PTBP3 Gene
- 8 REFSEQ mRNAs :
- 13 NCBI additional mRNA sequence :
- 8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000210227 734 nts (view in UCSC)
- ENST00000334318 7990 nts (view in UCSC)
- ENST00000343327 2755 nts (view in UCSC)
- ENST00000374255 3413 nts (view in UCSC)
- ENST00000374257 7240 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PTBP3 - Select products 50% OFF >
- * PTBP3 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for PTBP3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PTBP3
-
Santa Cruz Biotechnology (SCBT) CRISPR for PTBP3
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PTBP3
- Browse OriGene Inhibitory RNA Products For PTBP3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PTBP3
Clone Products
- Applied Biological Materials (abm): Clones for PTBP3 - Select products 50% OFF >
- * PTBP3 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG208328
- MG208377
- MR208328
- MR208328L3
- MR208328L4
- MR208377
- MR208377L3
- MR208377L4
- RC211812
- RC211812L3
- RC211812L4
- RC228427
- RC228427L3
- RC228427L4
- RC228447
- RC228447L3
- RC228447L4
- RC232780
- RC232955
- RC232969
- RG211812
- RG228427
- RG228447
- RG232780
- RG232955
- RG232969
- RR207478
- RR207478L3
- RR207478L4
- MR208328L3V
- MR208328L4V
- MR208377L3V
- MR208377L4V
- RC211812L3V
- RC211812L4V
- RC228427L3V
- RC228427L4V
- RC228447L3V
- RC228447L4V
- RR207478L3V
- RR207478L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for PTBP3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PTBP3
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | · | 7c | ^ | 8a | · | 8b | · | 8c | ^ | 9a | · | 9b | ^ | 10a | · | 10b | ^ | 11 | ^ | 12a | · | 12b | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: |
| ExUns: | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||
| SP2: | |||||||||||
| SP3: | |||||||||||
| SP4: | |||||||||||
| SP5: | |||||||||||
| SP6: | |||||||||||
| SP7: | |||||||||||
| SP8: | |||||||||||
| SP9: |
Relevant External Links for PTBP3 Gene
- GeneLoc Exon Structure for
- PTBP3
Expression for PTBP3 Gene
mRNA differential expression in normal tissues according to GTEx for PTBP3 Gene
This gene is overexpressed in Whole Blood (x4.5).
This gene is overexpressed in CD8 Tcells (9.6), Lymph node (7.4), and Monocytes (6.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PTBP3 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PTBP3
SOURCE GeneReport for Unigene cluster for PTBP3 Gene:
Hs.269988mRNA Expression by UniProt/SwissProt for PTBP3 Gene:
O95758-PTBP3_HUMAN
Tissue specificity:
Expressed in several hematopoietic cell lines examined.
Evidence on tissue expression from TISSUES for PTBP3 Gene
- Intestine(3.1)
- Lung(2.6)
- Skin(2.6)
- Kidney(2.4)
- Nervous system(2.4)
- Eye(2.4)
- Spleen(2.3)
- Heart(2.3)
- Muscle(2.2)
- Lymph node(2.1)
- Pancreas(2.1)
Primer Products
-
OriGene qPCR primer pairs for PTBP3
-
OriGene qPCR primer pairs and template standards for PTBP3
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for PTBP3 Gene
Orthologs for PTBP3 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ROD1 30 |
|
||
| PTBP3 31 |
|
OneToOne | |||
| Cow (Bos Taurus) |
Mammalia | PTBP3 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Rat (Rattus norvegicus) |
Mammalia | Ptbp3 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Ptbp3 30 17 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | PTBP3 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | PTBP3 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | ROD1 30 |
|
||
| PTBP3 31 |
|
OneToOne | |||
| Lizard (Anolis carolinensis) |
Reptilia | PTBP3 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ptbp3 30 |
|
||
| Str.13021 30 |
|
||||
| Zebrafish (Danio rerio) |
Actinopterygii | ptbp3 30 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | heph 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | ptb-1 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
- Species where no ortholog for PTBP3 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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)
- 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 Vase (Ciona intestinalis)
- 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 PTBP3 Gene
- ENSEMBL:
- Gene Tree for PTBP3 (if available)
- TreeFam:
- Gene Tree for PTBP3 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for PTBP3: view image
Paralogs for PTBP3 Gene
Variants for PTBP3 Gene
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2279381 | CNV | deletion | 18987734 |
| esv2461102 | CNV | deletion | 19546169 |
| esv2662225 | CNV | deletion | 23128226 |
| esv2672483 | CNV | deletion | 23128226 |
| esv2738946 | CNV | deletion | 23290073 |
| esv3621510 | CNV | loss | 21293372 |
| esv3621511 | CNV | gain | 21293372 |
| esv3621512 | CNV | loss | 21293372 |
| nsv1035315 | CNV | gain | 25217958 |
| nsv1053706 | CNV | loss | 25217958 |
| nsv1124464 | CNV | deletion | 24896259 |
| nsv1129305 | CNV | insertion | 24896259 |
| nsv466487 | CNV | loss | 19166990 |
| nsv511430 | CNV | loss | 21212237 |
| nsv518422 | CNV | gain | 19592680 |
| nsv615196 | CNV | loss | 21841781 |
| nsv825045 | CNV | loss | 20364138 |
| nsv950926 | CNV | duplication | 24416366 |
Residual Variation Intolerance Score:
28.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.42;
27.95% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for PTBP3 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- PTBP3
SNP Genotyping and Copy Number Assay Products
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 PTBP3 Gene
Disorders for PTBP3 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| prune belly syndrome |
|
|
| frontometaphyseal dysplasia |
|
|
| periventricular nodular heterotopia |
|
|
| fanconi anemia, complementation group a |
|
|
Search PTBP3 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for PTBP3
No data available for UniProtKB/Swiss-Prot and Genatlas for PTBP3 Gene
Publications for PTBP3 Gene
- Isolation of a mammalian homologue of a fission yeast differentiation regulator. (PMID: 10207106) Yamamoto H … Okayama H (Molecular and cellular biology 1999) 2 3 4 23
- Regulator of differentiation 1 (ROD1) binds to the amphipathic C-terminal peptide of thrombospondin-4 and is involved in its mitogenic activity. (PMID: 19441079) Sadvakassova G … Congote LF (Journal of cellular physiology 2009) 3 4
- Expression of human nPTB is limited by extreme suboptimal codon content. (PMID: 18335065) Robinson F … Smith CW (PloS one 2008) 3 4
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
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