Aliases for RPH3A Gene
Aliases for RPH3A Gene
External Ids for RPH3A Gene
- HGNC: 17056
- Entrez Gene: 22895
- Ensembl: ENSG00000089169
- OMIM: 612159
- UniProtKB: Q9Y2J0
Previous GeneCards Identifiers for RPH3A Gene
- GC12P112124
- GC12P112748
- GC12P113012
- GC12P111641
- GC12P111627
- GC12P111692
- GC12P113229
- GC12P110241
Summaries for RPH3A Gene
-
The protein encoded by this gene is thought to be an effector for RAB3A, which is a small G protein that acts in the late stages of neurotransmitter exocytosis. The encoded protein may be involved in neurotransmitter release and synaptic vesicle traffic. [provided by RefSeq, Dec 2016]
GeneCards Summary for RPH3A Gene
RPH3A (Rabphilin 3A) is a Protein Coding gene. Diseases associated with RPH3A include Infundibulo-Neurohypophysitis and Diabetes Insipidus, Neurohypophyseal. Among its related pathways are Deregulation of Rab and Rab Effector Genes in Bladder Cancer. Gene Ontology (GO) annotations related to this gene include calcium ion binding and protein complex binding. An important paralog of this gene is DOC2B.
UniProtKB/Swiss-Prot for RPH3A Gene
-
Protein transport. Probably involved with Ras-related protein Rab-3A in synaptic vesicle traffic and/or synaptic vesicle fusion. Could play a role in neurotransmitter release by regulating membrane flow in the nerve terminal (By similarity).
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RPH3A Gene
Genomics for RPH3A Gene
GeneHancer (GH) Regulatory Elements for RPH3A Gene
Promoters and enhancers for RPH3A 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| GH12I112794 | Promoter | 1 | EPDnew | 550.1 | +221.3 | 221349 | 0.1 | ZNF792 SAP130 ARID4B SIN3A ZSCAN9 RARA SLC30A9 ZNF143 EZH2 TFE3 | RPH3A OAS3 GC12P112794 GC12M112716 | |
| GH12I112793 | Promoter | 0.8 | EPDnew | 550.1 | +221.5 | 221542 | 0.1 | ZNF792 SIN3A REST EZH2 | RPH3A OAS3 GC12P112794 GC12M112716 | |
| GH12I112792 | Promoter | 0.7 | EPDnew | 550.1 | +221.8 | 221837 | 0.1 | ZBTB48 EZH2 | GC12P112794 RPH3A OAS3 GC12M112716 | |
| GH12I112838 | Enhancer | 0.9 | Ensembl ENCODE | 29.8 | +269.1 | 269119 | 1.8 | ELF3 FOXA2 JUN SIN3A ZNF644 DNMT3B TEAD3 GATA3 POLR2A FOSL2 | RPH3A GC12P112823 GC12M112858 | |
| GH12I112599 | Enhancer | 1.2 | FANTOM5 ENCODE | 12.5 | +29.7 | 29700 | 0.4 | ELF3 FOXA2 ZFP64 ARID4B ZSCAN9 RAD21 RARA YY1 SLC30A9 CREM | GC12M112589 RPH3A OAS2 OAS3 OAS1 GC12P112610 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around RPH3A on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for RPH3A Gene
Genomic Locations for RPH3A Gene
- chr12:112,570,380-112,898,881
- (GRCh38/hg38)
- Size:
- 328,502 bases
- Orientation:
- Plus strand
- chr12:113,008,184-113,336,686
- (GRCh37/hg19)
Genomic View for RPH3A Gene
Genes around RPH3A on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12q24.13 by Ensembl
- 12q24.13 by Entrez Gene
- 12q24.13 by HGNC
RPH3A 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 RPH3A Gene
Proteins for RPH3A Gene
-
Protein details for RPH3A Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9Y2J0-RP3A_HUMAN
- Recommended name:
- Rabphilin-3A
- Protein Accession:
- Q9Y2J0
- B7Z3C3
- Q96AE0
Protein attributes for RPH3A Gene
- Size:
- 694 amino acids
- Molecular mass:
- 76872 Da
- Quaternary structure:
-
- Monomer. Interacts with RAB3A, RAB3B, RAB3C, RAB3D, RAB8A, RAB27A and RAB27B (By similarity).
- SequenceCaution:
-
- Sequence=BAA76829.2; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for RPH3A Gene
Post-translational modifications for RPH3A Gene
Other Protein References for RPH3A Gene
- ENSEMBL proteins:
-
- ENSP00000405357
- ENSP00000440384
- ENSP00000446556
- ENSP00000446570
- ENSP00000446780
- ENSP00000446789
- ENSP00000447083
- ENSP00000447306
- ENSP00000447505
- ENSP00000447639
- ENSP00000448100
- ENSP00000448297
- ENSP00000448662
- ENSP00000449613
- ENSP00000449650
- ENSP00000449705
- ENSP00000450216
- ENSP00000450347
- ENSP00000450382
- ENSP00000374036
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for RPH3A
-
Abcam antibodies for RPH3A
- Invitrogen Antibodies for RPH3A
- GeneTex RPH3A antibody for RPH3A
-
Santa Cruz Biotechnology (SCBT) Antibodies for RPH3A
Protein Products
-
OriGene Purified Proteins for RPH3A
- Search Origene for MassSpec and Protein Over-expression Lysates for RPH3A
- Origene Custom Protein Services for RPH3A
- Novus Biologicals proteins for RPH3A
- Search GeneTex for Proteins for RPH3A
-
Abcam proteins for RPH3A
Assay Products
No data available for DME Specific Peptides for RPH3A Gene
Domains & Families for RPH3A Gene
Gene Families for RPH3A Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for RPH3A Gene
Suggested Antigen Peptide Sequences for RPH3A Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9Y2J0UniProtKB/Swiss-Prot:
RP3A_HUMAN :- Binds calcium via the C2 domains. The calcium-bound C2 domains mediate interactions with phospholipid bilayers (By similarity).
- Domain:
-
- Binds calcium via the C2 domains. The calcium-bound C2 domains mediate interactions with phospholipid bilayers (By similarity).
Function for RPH3A Gene
Molecular function for RPH3A Gene
- UniProtKB/Swiss-Prot Function:
- Protein transport. Probably involved with Ras-related protein Rab-3A in synaptic vesicle traffic and/or synaptic vesicle fusion. Could play a role in neurotransmitter release by regulating membrane flow in the nerve terminal (By similarity).
Phenotypes From GWAS Catalog for RPH3A Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005509 | calcium ion binding | ISS | -- |
| GO:0005515 | protein binding | IPI | 11377421 |
| GO:0005544 | calcium-dependent phospholipid binding | ISS,IBA | -- |
| GO:0005546 | phosphatidylinositol-4,5-bisphosphate binding | ISS | -- |
| GO:0008270 | zinc ion binding | ISS | -- |
Phenotypes for RPH3A Gene
- MGI mutant phenotypes for RPH3A:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for RPH3A:
-
- Increased viability
- Increased vaccinia virus (VACV) infection
- Increased gamma-H2AX phosphorylation
- Decreased viability in esophageal squamous lineage
- Decreased ionizing radiation sensitivity
- Decreased shRNA abundance (Z-score < -2)
- Decreased NF-kappaB reporter expression
- FOXO1 nuclear localization
- Increased shRNA abundance (Z-score > 2)
- Decreased viability
- Decreased IL-8 secretion
- Decreased homologous recombination repair frequency
- Downregulation of Wnt pathway after Wnt3A stimulation
- Upregulation of RLR pathway after Sendai virus (SeV) infection
Animal Models for RPH3A Gene
- MGI Knock Outs for RPH3A:
-
- Rph3a tm1Sud
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for RPH3A
-
-
ViGene Biosciences lentiviral particle packaged cDNA for RPH3A gene
-
ViGene Biosciences ready-to-package AAV shRNAs for RPH3A gene
- Search ViGene Biosciences for RPH3A
CRISPR Products
-
OriGene CRISPR knockouts for RPH3A
- genomics-online: gRNA clones - Search results for available RPH3A gene related products
- Applied Biological Materials CRISPR for RPH3A
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for RPH3A
- GenScript: Design CRISPR guide RNA sequences for RPH3A
miRNA for RPH3A Gene
- miRTarBase miRNAs that target RPH3A
-
- hsa-mir-106a-5p (MIRT048316)
- hsa-mir-7106-5p (MIRT570528)
- hsa-mir-6739-5p (MIRT570529)
- hsa-mir-6733-5p (MIRT570530)
- hsa-mir-3153 (MIRT570531)
- hsa-mir-765 (MIRT570532)
- hsa-mir-6133 (MIRT570533)
- hsa-mir-6130 (MIRT570534)
- hsa-mir-6129 (MIRT570535)
- hsa-mir-6127 (MIRT570536)
- hsa-mir-4510 (MIRT570537)
- hsa-mir-4419a (MIRT570538)
- hsa-mir-4784 (MIRT570539)
- hsa-mir-3150b-3p (MIRT570540)
- hsa-mir-4739 (MIRT570541)
- hsa-mir-4756-5p (MIRT570542)
- hsa-mir-1321 (MIRT570543)
- hsa-mir-6873-5p (MIRT570544)
- hsa-mir-5197-3p (MIRT570545)
- hsa-mir-574-5p (MIRT654136)
- hsa-mir-493-5p (MIRT654137)
- hsa-mir-4666a-5p (MIRT654138)
- hsa-mir-6867-5p (MIRT654139)
- hsa-mir-3177-5p (MIRT654140)
- hsa-mir-124-5p (MIRT707181)
- hsa-mir-3650 (MIRT784997)
- hsa-mir-4455 (MIRT785922)
miRNA Products
- Search ViGene Biosciences for RPH3A
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for RPH3A
- Browse OriGene Inhibitory RNA Products For RPH3A
- genomics-online: shRNA clones - Search results for available RPH3A gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for RPH3A gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for RPH3A
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for RPH3A
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available RPH3A gene related products
- orf clones - Search results for available RPH3A gene related products
- Applied Biological Materials Clones for RPH3A
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for RPH3A
-
ViGene Biosciences adenoviral particle packaged cDNA for RPH3A gene
-
ViGene Biosciences lentiviral particle packaged cDNA for RPH3A gene
-
ViGene Biosciences ready-to-package AAV shRNAs for RPH3A gene
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RPH3A Gene
Localization for RPH3A Gene
Subcellular locations from UniProtKB/Swiss-Prot for RPH3A Gene
- Cell junction, synapse. Membrane; Peripheral membrane protein.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| plasma membrane | 4 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005622 | intracellular | IEA | -- |
| GO:0005794 | colocalizes_with Golgi apparatus | ISS | -- |
| GO:0005829 | cytosol | ISS | -- |
| GO:0005886 | plasma membrane | IBA | -- |
| GO:0008021 | synaptic vesicle | TAS | 10099709 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for RPH3A Gene
Pathways & Interactions for RPH3A Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Deregulation of Rab and Rab Effector Genes in Bladder Cancer | ||
Pathways by source for RPH3A Gene
1 BioSystems pathway for RPH3A Gene
Interacting Proteins for RPH3A Gene
Selected Interacting proteins:
Q9Y2J0-RP3A_HUMAN
ENSP00000374036
for RPH3A Gene via
IID
STRING
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006810 | transport | IEA | -- |
| GO:0006886 | intracellular protein transport | IEA | -- |
| GO:0006906 | vesicle fusion | IBA | -- |
| GO:0015031 | protein transport | IEA | -- |
| GO:0017158 | regulation of calcium ion-dependent exocytosis | IBA | -- |
No data available for SIGNOR curated interactions for RPH3A Gene
Transcripts for RPH3A Gene
mRNA/cDNA for RPH3A Gene
- (8) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (89) Selected AceView cDNA sequences:
- (27) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for RPH3A Gene
CRISPR Products
-
OriGene CRISPR knockouts for RPH3A
- genomics-online: gRNA clones - Search results for available RPH3A gene related products
- Applied Biological Materials CRISPR for RPH3A
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for RPH3A
- GenScript: Design CRISPR guide RNA sequences for RPH3A
miRNA Products
- Search ViGene Biosciences for RPH3A
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for RPH3A
- Browse OriGene Inhibitory RNA Products For RPH3A
- genomics-online: shRNA clones - Search results for available RPH3A gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for RPH3A gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for RPH3A
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for RPH3A
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available RPH3A gene related products
- orf clones - Search results for available RPH3A gene related products
- Applied Biological Materials Clones for RPH3A
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | ^ | 14 | ^ | 15a | · | 15b | ^ | 16 | ^ | 17 | ^ | 18a | · | 18b | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||
| SP5: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: |
| ExUns: | 18c | ^ | 19 | ^ | 20 | ^ | 21a | · | 21b | ^ | 22a | · | 22b | ^ | 23 | ^ | 24 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||
| SP2: | - | ||||||||||||||||
| SP3: | - | ||||||||||||||||
| SP4: | |||||||||||||||||
| SP5: | |||||||||||||||||
| SP6: | |||||||||||||||||
| SP7: | |||||||||||||||||
| SP8: |
Expression for RPH3A Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
mRNA differential expression in normal tissues according to GTEx for RPH3A Gene
This gene is overexpressed in Brain - Cortex (x8.9), Brain - Frontal Cortex (BA9) (x8.7), Brain - Anterior cingulate cortex (BA24) (x7.0), Brain - Cerebellar Hemisphere (x4.9), and Brain - Cerebellum (x4.3).
This gene is overexpressed in Serum (35.6), Frontal cortex (20.4), and Cerebrospinal fluid (6.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for RPH3A Gene
NURSA nuclear receptor signaling pathways regulating expression of RPH3A Gene:
RPH3ASOURCE GeneReport for Unigene cluster for RPH3A Gene:
Hs.21239Evidence on tissue expression from TISSUES for RPH3A Gene
- Nervous system(5)
- Adrenal gland(2.2)
Primer Products
-
OriGene qPCR primer pairs for RPH3A
- genomics-online: primer clones - Search results for available RPH3A gene related products
Gene Expression Assay Products
No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RPH3A Gene
Orthologs for RPH3A Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | RPH3A 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | RPH3A 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | RPH3A 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Rph3a 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Rph3a 33 16 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | RPH3A 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | RPH3A 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | RPH3A 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | RPH3A 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100487950 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | rph3ab 33 |
|
||
| RPH3A (2 of 2) 34 |
|
OneToMany | |||
| RPH3A (1 of 2) 34 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | Rph 33 34 |
|
||
| rabphilin-3A 35 |
|
|
|||
| worm (Caenorhabditis elegans) |
Secernentea | rbf-1 33 34 |
|
- Species where no ortholog for RPH3A 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)
- 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 squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- 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)
Paralogs for RPH3A Gene
(15) SIMAP similar genes for RPH3A Gene using alignment to 19 proteins:
Pseudogenes.org Pseudogenes for RPH3A Gene
Variants for RPH3A Gene
| SNP ID | Clin | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs869312710 | uncertain-significance, not specified | 112,883,315(+) | C/G | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs1000043941 | -- | 112,849,121(+) | G/A | genic_upstream_transcript_variant, intron_variant | |
| rs1000069533 | -- | 112,802,913(+) | G/A | genic_upstream_transcript_variant, intron_variant | |
| rs1000075988 | -- | 112,842,878(+) | A/G | genic_upstream_transcript_variant, intron_variant | |
| rs1000108909 | -- | 112,884,901(+) | A/G | intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2673292 | CNV | deletion | 23128226 |
| esv2746377 | CNV | deletion | 23290073 |
| esv275176 | CNV | gain+loss | 21479260 |
| esv3381540 | CNV | insertion | 20981092 |
| esv3435630 | CNV | insertion | 20981092 |
| esv3580467 | CNV | loss | 25503493 |
| esv3630788 | CNV | loss | 21293372 |
| esv3630789 | CNV | loss | 21293372 |
| esv987835 | CNV | insertion | 20482838 |
| nsv1042636 | CNV | gain | 25217958 |
| nsv832515 | CNV | gain | 17160897 |
| nsv832516 | CNV | gain | 17160897 |
Residual Variation Intolerance Score:
63.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.03;
68.63% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for RPH3A Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RPH3A Gene
Disorders for RPH3A Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| infundibulo-neurohypophysitis |
|
|
| diabetes insipidus, neurohypophyseal |
|
|
| synucleinopathy |
|
|
Search RPH3A in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for RPH3A
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for RPH3A Gene
Publications for RPH3A Gene
- Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10231032) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4 58
- Visualization of Rab3A dissociation during exocytosis: a study by total internal reflection microscopy. (PMID: 17149709) Lin CC … Kao LS (Journal of cellular physiology 2007) 3 22 58
- Loss of SNAP-25 and rabphilin 3a in sensory-motor cortex in Huntington's disease. (PMID: 17877635) Smith R … Li JY (Journal of neurochemistry 2007) 3 22 58
- 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 58
- Abnormal alpha-synuclein interactions with rab3a and rabphilin in diffuse Lewy body disease. (PMID: 15207266) Dalfó E … Ferrer I (Neurobiology of disease 2004) 3 22 58
Products for RPH3A Gene
- Browse R&D Systems for Antibodies
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- Browse R&D Systems for biochemical assays
- Browse Human Proteins and Enzymes
- Browse Primary Antibodies
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- OriGene Purified Proteins for RPH3A
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- Origene shrna, sirna, and RNAi products in human, mouse, rat for RPH3A
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- Browse OriGene miRNA Products For RPH3A
- GenScript: Next-day shipping of latest version cDNA ORF clones for RPH3A in any vector
- GenScript Custom Purified and Recombinant Proteins Services for RPH3A
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- GenScript Custom overexpressing Cell Line Services for RPH3A
- GenScript: Design CRISPR guide RNA sequences for RPH3A
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
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- Novus Biologicals Antibodies for RPH3A
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- Cloud-Clone Corp. disease models service
- Browse cDNA clones at Cloud-Clone Corp.
- Browse primers at Cloud-Clone Corp.
- Cloud-Clone Corp. primary cells service
- Cyagen custom Knockout/knockin (KOKI) mouse models for RPH3A
- VectorBuilder custom plasmid, inducible vectors for RPH3A
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for RPH3A
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 72 available RPH3A Antibodies ranked by validation data
- Compare Top RPH3A Antibodies
- antibodies-online: Search results for 4 available RPH3A Elisa Kits ranked by validation data
- Compare Top RPH3A Elisa Kits
- antibodies-online: Search results for 4 available RPH3A Proteins ranked by validation data
- Compare Top RPH3A Proteins
- GeneTex RPH3A antibody for RPH3A
- Search GeneTex for Proteins for RPH3A
- ViGene Biosciences adenoviral particle packaged cDNA for RPH3A gene
- ViGene Biosciences lentiviral particle packaged cDNA for RPH3A gene
- ViGene Biosciences ready-to-package AAV shRNAs for RPH3A gene
- Search ViGene Biosciences for RPH3A
- Santa Cruz Biotechnology (SCBT) Antibodies for RPH3A
- Search Santa Cruz Biotechnology (SCBT) for RPH3A siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for RPH3A
- Horizon Cell Lines for RPH3A
- genomics-online: cdna clones - Search results for available RPH3A gene related products
- orf clones - Search results for available RPH3A gene related products
- genomics-online: gRNA clones - Search results for available RPH3A gene related products
- genomics-online: primer clones - Search results for available RPH3A gene related products
- genomics-online: shRNA clones - Search results for available RPH3A gene related products
Sources for RPH3A Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems