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Aliases for PSD3 Gene
Aliases for PSD3 Gene
External Ids for PSD3 Gene
- HGNC: 19093
- NCBI Entrez Gene: 23362
- Ensembl: ENSG00000156011
- OMIM®: 614440
- UniProtKB/Swiss-Prot: Q9NYI0
Previous GeneCards Identifiers for PSD3 Gene
- GC00U916998
- GC08M018432
- GC08M016929
Summaries for PSD3 Gene
GeneCards Summary for PSD3 Gene
PSD3 (Pleckstrin And Sec7 Domain Containing 3) is a Protein Coding gene. Diseases associated with PSD3 include Hepatocellular Carcinoma. Among its related pathways are Endocytosis. Gene Ontology (GO) annotations related to this gene include phospholipid binding and ARF guanyl-nucleotide exchange factor activity. An important paralog of this gene is PSD.
UniProtKB/Swiss-Prot Summary for PSD3 Gene
-
Guanine nucleotide exchange factor for ARF6.
Additional gene information for PSD3 Gene
- HGNC (19093)
- NCBI Entrez Gene (23362)
- Ensembl (ENSG00000156011)
- OMIM® (614440)
- UniProtKB/Swiss-Prot (Q9NYI0)
- Open Targets Platform(ENSG00000156011)
- Monarch Initiative
- Search for PSD3 at DataMed
- Search for PSD3 at HumanCyc
No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PSD3 Gene
Genomics for PSD3 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for PSD3 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 PSD3 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PSD3
- Top Transcription factor binding sites by QIAGEN in the PSD3 gene promoter:
-
- aMEF-2
- AP-4
- Evi-1
- ITF-2
- MEF-2A
- Pax-2
- Pax-2a
- POU2F1
- POU2F1a
- Tal-1beta
Genomic Locations for PSD3 Gene
Latest Assembly
- chr8:18,527,303-19,086,909
- (GRCh38/hg38)
- Size:
- 559,607 bases
- Orientation:
- Minus strand
Previous Assembly
- chr8:18,384,813-18,871,213
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 486,401 bases
- Orientation:
- Minus strand
- chr8:18,384,811-18,942,240
- (GRCh37/hg19 by Ensembl)
- Size:
- 557,430 bases
- Orientation:
- Minus strand
Genomic View for PSD3 Gene
Genes around PSD3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 8p22 by HGNC
- 8p22 by Entrez Gene
- 8p22 by Ensembl
PSD3 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 PSD3 Gene
Proteins for PSD3 Gene
-
Protein details for PSD3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9NYI0-PSD3_HUMAN
- Recommended name:
- PH and SEC7 domain-containing protein 3
- Protein Accession:
- Q9NYI0
- A6NFQ4
- E9KL50
- Q6B003
- Q9Y2F1
Protein attributes for PSD3 Gene
- Size:
- 1048 amino acids
- Molecular mass:
- 116034 Da
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=AAF61269.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH75044.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH75045.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA76786.2; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for PSD3 Gene
Post-translational modifications for PSD3 Gene
Other Protein References for PSD3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- Novus Biologicals Antibodies for PSD3
-
Abcam antibodies for PSD3
- Invitrogen Antibodies for PSD3 (AFLGC-PSD3)
-
Biorbyt antibodies for PSD3
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for PSD3
- Origene Custom Protein Services for PSD3
- antibodies-online: Show 5 available PSD3 Proteins ranked by validation data
- Compare Top PSD3 Proteins
-
Quality Products:
-
Abcam proteins for PSD3
Assay products for research
- antibodies-online: Search results for available PSD3 related products ranked by validation data
No data available for DME Specific Peptides for PSD3 Gene
Domains & Families for PSD3 Gene
Gene Families for PSD3 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for PSD3 Gene
- InterPro:
- Blocks:
-
- Pleckstrin-like
- Spectrin pleckstrin homology domain signature
- ProtoNet:
Suggested Antigen Peptide Sequences for PSD3 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ54694, highly similar to Pleckstrin and Sec7 domain-containing protein3 (B4DKF8_HUMAN)
- Pleckstrin and Sec7 domain containing 3, isoform CRA_c (D3DSQ2_HUMAN)
- Pleckstrin homology and SEC7 domain-containing protein 3 (PSD3_HUMAN)
- cDNA, FLJ94448 (Q7L3Y3_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PSD3 Gene
Function for PSD3 Gene
Molecular function for PSD3 Gene
- UniProtKB/Swiss-Prot Function:
- Guanine nucleotide exchange factor for ARF6.
Phenotypes From GWAS Catalog for PSD3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005085 | guanyl-nucleotide exchange factor activity | IBA | -- |
| GO:0005086 | ARF guanyl-nucleotide exchange factor activity | IEA | -- |
| GO:0005515 | protein binding | IEA | -- |
| GO:0005543 | phospholipid binding | IEA | -- |
Phenotypes for PSD3 Gene
- MGI mutant phenotypes for PSD3:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for PSD3:
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 PSD3 - Starting at $85 >
- * PSD3 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 PSD3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PSD3
-
Santa Cruz Biotechnology (SCBT) CRISPR for PSD3
miRNA for PSD3 Gene
- miRTarBase miRNAs that target PSD3
-
- mmu-miR-301b-3p (MIRT008064)
- mmu-miR-541-5p (MIRT008373)
- mmu-miR-223-3p (MIRT009781)
- mmu-miR-340-5p (MIRT010715)
- mmu-miR-324-3p (MIRT011065)
- mmu-let-7b-5p (MIRT012295)
- mmu-miR-297a-5p (MIRT013135)
- mmu-miR-136-5p (MIRT015104)
- mmu-miR-9-5p (MIRT015570)
- hsa-miR-130b-5p (MIRT038332)
- hsa-miR-20b-5p (MIRT042401)
- hsa-miR-326 (MIRT043647)
- hsa-miR-20a-5p (MIRT050520)
- hsa-miR-17-5p (MIRT050826)
- hsa-let-7e-5p (MIRT051683)
- hsa-let-7b-5p (MIRT052220)
- hsa-miR-95-5p (MIRT123945)
- hsa-miR-218-5p (MIRT439884)
- hsa-miR-152-5p (MIRT513724)
- hsa-miR-597-3p (MIRT513725)
- hsa-miR-182-3p (MIRT513726)
- hsa-miR-765 (MIRT513727)
- hsa-miR-4784 (MIRT513728)
- hsa-miR-3150b-3p (MIRT513729)
- hsa-miR-4680-3p (MIRT513730)
- hsa-miR-5187-3p (MIRT513731)
- hsa-miR-4427 (MIRT513732)
- hsa-miR-4518 (MIRT513733)
- hsa-miR-1266-5p (MIRT513734)
- hsa-miR-3664-3p (MIRT513735)
- hsa-miR-4433a-3p (MIRT513736)
- hsa-miR-4459 (MIRT513737)
- hsa-miR-4768-3p (MIRT513738)
- hsa-miR-216a-5p (MIRT513739)
- hsa-miR-744-3p (MIRT534969)
- hsa-miR-4423-5p (MIRT534970)
- hsa-miR-6501-5p (MIRT534971)
- hsa-miR-513c-3p (MIRT534972)
- hsa-miR-513a-3p (MIRT534973)
- hsa-miR-3606-3p (MIRT534974)
- hsa-miR-548t-3p (MIRT534975)
- hsa-miR-548ap-3p (MIRT534976)
- hsa-miR-548aa (MIRT534977)
- hsa-miR-4759 (MIRT534978)
- hsa-miR-655-3p (MIRT571753)
- hsa-miR-374c-5p (MIRT571754)
- hsa-miR-429 (MIRT571755)
- hsa-miR-200c-3p (MIRT571756)
- hsa-miR-8084 (MIRT571757)
- hsa-miR-200b-3p (MIRT571758)
- hsa-miR-519c-3p (MIRT571759)
- hsa-miR-519b-3p (MIRT571760)
- hsa-miR-519a-3p (MIRT571761)
- hsa-miR-520e (MIRT571762)
- hsa-miR-302a-3p (MIRT571763)
- hsa-miR-520a-3p (MIRT571764)
- hsa-miR-372-3p (MIRT571765)
- hsa-miR-520b (MIRT571766)
- hsa-miR-520c-3p (MIRT571767)
- hsa-miR-520d-3p (MIRT571768)
- hsa-miR-373-3p (MIRT571769)
- hsa-miR-302e (MIRT571770)
- hsa-miR-302d-3p (MIRT571771)
- hsa-miR-302b-3p (MIRT571772)
- hsa-miR-302c-3p (MIRT571773)
- mmu-miR-466f-3p (MIRT581560)
- mmu-miR-466d-5p (MIRT581561)
- mmu-miR-466i-5p (MIRT581562)
- mmu-miR-466k (MIRT581563)
- mmu-miR-1b-5p (MIRT581564)
- mmu-miR-466m-3p (MIRT581565)
- mmu-miR-466o-3p (MIRT581566)
- mmu-miR-466l-5p (MIRT581567)
- mmu-miR-466p-3p (MIRT591751)
- mmu-miR-466b-3p (MIRT591752)
- mmu-miR-466c-3p (MIRT591753)
- mmu-miR-672-5p (MIRT591754)
- mmu-miR-532-5p (MIRT591755)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PSD3
- Browse OriGene Inhibitory RNA Products For PSD3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PSD3
Clone products for research
- Applied Biological Materials (abm): Clones for PSD3 - Starting at $45 >
- * PSD3 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 PSD3
- Addgene plasmids for PSD3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PSD3
Cell Lines for research
-
Horizon Cell Lines for PSD3
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PSD3 Gene
Localization for PSD3 Gene
Subcellular locations from UniProtKB/Swiss-Prot for PSD3 Gene
- Cell membrane. Cell projection, ruffle membrane. Cell junction, synapse, postsynaptic density. Note=In interphase associated with the plasma membrane, in particular with membrane ruffling regions. {ECO:0000250 UniProtKB:Q2PFD7}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 4 |
| nucleus | 3 |
| cytosol | 3 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| golgi apparatus | 1 |
- Cytosol (2)
- Nucleoplasm (2)
- Vesicles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005886 | plasma membrane | IEA | -- |
| GO:0014069 | postsynaptic density | IEA | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0030054 | cell junction | IEA | -- |
| GO:0032587 | ruffle membrane | IBA,ISS | -- |
Pathways & Interactions for PSD3 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Endocytosis | ||
Pathways by source for PSD3 Gene
1 KEGG pathway for PSD3 Gene
Interacting Proteins for PSD3 Gene
GPS-Prot Interaction Network for PSD3
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0032012 | regulation of ARF protein signal transduction | IEA | -- |
| GO:0050790 | regulation of catalytic activity | IEA | -- |
No data available for SIGNOR curated interactions for PSD3 Gene
Transcripts for PSD3 Gene
mRNA/cDNA for PSD3 Gene
- 3 REFSEQ mRNAs :
- 18 NCBI additional mRNA sequence :
- 20 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000286485 6665 nts (view in UCSC)
- ENST00000327040 11704 nts (view in UCSC)
- ENST00000428502 6330 nts (view in UCSC)
- ENST00000440756 11690 nts (view in UCSC)
- ENST00000517971 580 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for PSD3 - Starting at $85 >
- * PSD3 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 PSD3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PSD3
-
Santa Cruz Biotechnology (SCBT) CRISPR for PSD3
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PSD3
- Browse OriGene Inhibitory RNA Products For PSD3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PSD3
Clone products for research
- Applied Biological Materials (abm): Clones for PSD3 - Starting at $45 >
- * PSD3 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 PSD3
- Addgene plasmids for PSD3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PSD3
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | · | 5c | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: |
Relevant External Links for PSD3 Gene
- GeneLoc Exon Structure for
- PSD3
Expression for PSD3 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
-
Eye (Sensory Organs)
- Mature Rod Bipolar Cells Inner Nuclear Layer
-
Neurons
- Mature Rod Bipolar Cells Inner Nuclear Layer
mRNA differential expression in normal tissues according to GTEx for PSD3 Gene
This gene is overexpressed in Brain - Cerebellar Hemisphere (x6.3) and Brain - Cerebellum (x5.0).
This gene is overexpressed in Frontal cortex (38.5) and Brain (19.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PSD3 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PSD3
SOURCE GeneReport for Unigene cluster for PSD3 Gene:
Hs.434255mRNA Expression by UniProt/SwissProt for PSD3 Gene:
Q9NYI0-PSD3_HUMAN
Tissue specificity:
Isoform 2 is expressed in epididymis (at protein level).
Evidence on tissue expression from TISSUES for PSD3 Gene
- Nervous system(5)
- Liver(4.3)
Primer products for research
-
OriGene qPCR primer pairs for PSD3
Gene Expression Assays for research
No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PSD3 Gene
Orthologs for PSD3 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | PSD3 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Psd3 30 17 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | PSD3 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Rat (Rattus norvegicus) |
Mammalia | Psd3 30 |
|
||
| Cow (Bos Taurus) |
Mammalia | PSD3 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| -- 31 |
|
OneToMany | |||
| Chicken (Gallus gallus) |
Aves | PSD3 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | PSD3 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | psd3 30 |
|
||
| Str.16491 30 |
|
||||
| Zebrafish (Danio rerio) |
Actinopterygii | psd3l 30 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | Efa6 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | efa-6 31 |
|
OneToMany | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | GEA2 31 |
|
ManyToMany | |
| GEA1 31 |
|
ManyToMany | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
- Species where no ortholog for PSD3 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)
- 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 PSD3 Gene
- ENSEMBL:
- Gene Tree for PSD3 (if available)
- TreeFam:
- Gene Tree for PSD3 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for PSD3: view image
Paralogs for PSD3 Gene
Paralogs for PSD3 Gene
(43) SIMAP similar genes for PSD3 Gene using alignment to 12 proteins:
- PSD3_HUMAN
- B4DKF8_HUMAN
- D3DSQ2_HUMAN
- E5RFG7_HUMAN
- E5RH02_HUMAN
- E5RIH3_HUMAN
- E5RJ29_HUMAN
- E5RJE4_HUMAN
- H0YAQ7_HUMAN
- H0YC20_HUMAN
- J3KQK0_HUMAN
- Q7L3Y3_HUMAN
Variants for PSD3 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PSD3 Gene
| SNP ID | Clinical significance and condition | Chr 08 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs114838869 | Benign: not provided | 18,871,717(-) |
G/A NM_015310.4(PSD3):c.1147C>T (p.Arg383Cys) |
MISSENSE | |
| rs139294568 | Benign: not provided | 18,872,192(-) |
G/C NM_015310.4(PSD3):c.672C>G (p.Asp224Glu) |
MISSENSE | |
| rs143901818 | Benign: not provided | 18,801,368(-) |
G/T NM_015310.4(PSD3):c.1925C>A (p.Ala642Glu) |
MISSENSE | |
| rs146066561 | Likely Benign: not provided | 18,871,840(-) |
G/A NM_015310.4(PSD3):c.1024C>T (p.Arg342Cys) |
MISSENSE | |
| rs1586289298 | Uncertain Significance: Flexion contracture | 18,872,427(-) |
A/G NM_015310.4(PSD3):c.437T>C (p.Ile146Thr) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
Residual Variation Intolerance Score:
56.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.03;
68.59% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for PSD3 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PSD3 Gene
Disorders for PSD3 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hepatocellular carcinoma |
|
|
Search PSD3 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for PSD3
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- 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 PSD3 Gene
Publications for PSD3 Gene
- Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women. (PMID: 21507922) Ramsuran V … Ndung'u T (Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2011) 3 41
- Systematic mapping and functional analysis of a family of human epididymal secretory sperm-located proteins. (PMID: 20736409) Li J … Liu Y (Molecular & cellular proteomics : MCP 2010) 3 4
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
- Inherited genetic variant predisposes to aggressive but not indolent prostate cancer. (PMID: 20080650) Xu J … Isaacs WB (Proceedings of the National Academy of Sciences of the United States of America 2010) 3 41
- Replication of a genome-wide case-control study of esophageal squamous cell carcinoma. (PMID: 18649358) Ng D … Taylor PR (International journal of cancer 2008) 3 41
ExternalLinks
Products for PSD3 Gene
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for PSD3
- Origene Custom Protein Services for PSD3
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PSD3
- Browse OriGene Inhibitory RNA Products For PSD3
- OriGene qPCR primer pairs for PSD3
- OriGene CRISPR knockouts for PSD3
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For PSD3
- Sino Biological Human cDNA Clone for PSD3
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for PSD3
- Novus Biologicals proteins and lysates for PSD3
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for PSD3
- Abcam proteins for PSD3
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Invitrogen Antibodies for PSD3 (AFLGC-PSD3)
- VectorBuilder Custom and pre-made DNA vectors for PSD3 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for PSD3 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for PSD3 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for PSD3 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for PSD3
- Addgene plasmids for PSD3
- antibodies-online: Show 28 available PSD3 Antibodies ranked by validation data
- Compare Top PSD3 Antibodies
- antibodies-online: Search results for available PSD3 related products ranked by validation data
- antibodies-online: Show 5 available PSD3 Proteins ranked by validation data
- Compare Top PSD3 Proteins
- Quality Products:
- Horizon Cell Lines for PSD3
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PSD3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PSD3
- Search GeneCopoeia for miRNA 3'UTR Target clone products for PSD3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PSD3
- Biorbyt antibodies for PSD3
Sources for PSD3 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) MedlinePlus Genetics
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNAcentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Open Targets Platform
- (175) 5SRRNADB
- (176) snoDB
- (177) MirGeneDB