Aliases for GIPC3 Gene
Aliases for GIPC3 Gene
External Ids for GIPC3 Gene
- HGNC: 18183
- Entrez Gene: 126326
- Ensembl: ENSG00000179855
- OMIM: 608792
- UniProtKB: Q8TF64
Previous HGNC Symbols for GIPC3 Gene
- C19orf64
- DFNB72
- DFNB15
Previous GeneCards Identifiers for GIPC3 Gene
- GC19P003677
- GC19P003654
- GC19P003525
- GC19P003536
- GC19P003351
Summaries for GIPC3 Gene
-
The protein encoded by this gene belongs to the GIPC family. Studies in mice suggest that this gene is required for postnatal maturation of the hair bundle and long-term survival of hair cells and spiral ganglion in the ear. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2011]
GeneCards Summary for GIPC3 Gene
GIPC3 (GIPC PDZ Domain Containing Family Member 3) is a Protein Coding gene. Diseases associated with GIPC3 include Deafness, Autosomal Recessive 15 and Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb. An important paralog of this gene is GIPC1.
UniProtKB/Swiss-Prot for GIPC3 Gene
-
Required for postnatal maturation of the hair bundle and long-term survival of hair cells and spiral ganglion.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GIPC3 Gene
Genomics for GIPC3 Gene
Regulatory Elements for GIPC3 Gene
Enhancers for GIPC3 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around GIPC3 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the GIPC3 gene promoter:
Regulatory Element Products
Genomic Location for GIPC3 Gene
- Chromosome:
- 19
- Start:
- 3,585,541 bp from pter
- End:
- 3,593,541 bp from pter
- Size:
- 8,001 bases
- Orientation:
- Plus strand
Genomic View for GIPC3 Gene
Genes around GIPC3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 19p13.3 by Ensembl
- 19p13.3 by Entrez Gene
- 19p13.3 by HGNC
GIPC3 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 GIPC3 Gene
Proteins for GIPC3 Gene
-
Protein details for GIPC3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8TF64-GIPC3_HUMAN
- Recommended name:
- PDZ domain-containing protein GIPC3
- Protein Accession:
- Q8TF64
- O75227
Protein attributes for GIPC3 Gene
- Size:
- 312 amino acids
- Molecular mass:
- 33982 Da
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=AAC24304.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
Protein Expression for GIPC3 Gene
Post-translational modifications for GIPC3 Gene
Other Protein References for GIPC3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for GIPC3
- Invitrogen Antibodies for GIPC3
- antibodies-online Antibodies for GIPC3: See all 43
- GeneTex GIPC3 antibody for GIPC3
-
Santa Cruz Biotechnology (SCBT) Antibodies for GIPC3
Protein Products
-
OriGene Purified Proteins for GIPC3
- Search Origene for MassSpec and Protein Over-expression Lysates for GIPC3
- Origene Custom Protein Services for GIPC3
- antibodies-online Proteins for GIPC3: See all 4
- Search antibodies-online for peptides
- Search GeneTex for Proteins for GIPC3
No data available for DME Specific Peptides for GIPC3 Gene
Domains & Families for GIPC3 Gene
Gene Families for GIPC3 Gene
Suggested Antigen Peptide Sequences for GIPC3 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q8TF64- Family:
-
- Belongs to the GIPC family.
Function for GIPC3 Gene
Molecular function for GIPC3 Gene
- UniProtKB/Swiss-Prot Function:
- Required for postnatal maturation of the hair bundle and long-term survival of hair cells and spiral ganglion.
Phenotypes for GIPC3 Gene
- MGI mutant phenotypes for GIPC3:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for GIPC3:
Animal Models for GIPC3 Gene
- MGI Knock Outs for GIPC3:
-
- Gipc3 tm1b(KOMP)Wtsi
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
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-
-
ViGene Biosciences lentiviral particle packaged cDNA for GIPC3 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for GIPC3 gene
- Search ViGene Biosciences for GIPC3
CRISPR Products
-
OriGene CRISPR knockouts for GIPC3
-
Santa Cruz Biotechnology (SCBT) CRISPR for GIPC3
- GenScript: Design CRISPR guide RNA sequences for GIPC3
miRNA Products
- Search ViGene Biosciences for GIPC3
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for GIPC3
- Browse OriGene Inhibitory RNA Products For GIPC3
-
ViGene Biosciences ready-to-package AAV shRNAs for GIPC3 gene
Clone Products
-
OriGene ORF clones in human for GIPC3
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- VectorBuilder custom plasmid, inducible vectors for GIPC3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for GIPC3
-
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
Cell Line Products
-
Horizon Cell Lines for GIPC3
-
ViGene Biosciences adenoviral particle packaged cDNA for GIPC3 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for GIPC3 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for GIPC3 gene
No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targets and HOMER Transcription for GIPC3 Gene
Localization for GIPC3 Gene
| Compartment | Confidence |
|---|---|
| cytosol | 3 |
| nucleus | 2 |
| extracellular | 1 |
No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for GIPC3 Gene
Pathways & Interactions for GIPC3 Gene
No Data Available
No data available for Pathways by source and SIGNOR curated interactions for GIPC3 Gene
Transcripts for GIPC3 Gene
mRNA/cDNA for GIPC3 Gene
- (2) REFSEQ mRNAs :
- (5) Additional mRNA sequences :
- (17) Selected AceView cDNA sequences:
- (1) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for GIPC3 Gene
CRISPR Products
-
OriGene CRISPR knockouts for GIPC3
-
Santa Cruz Biotechnology (SCBT) CRISPR for GIPC3
- GenScript: Design CRISPR guide RNA sequences for GIPC3
miRNA Products
- Search ViGene Biosciences for GIPC3
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for GIPC3
- Browse OriGene Inhibitory RNA Products For GIPC3
-
ViGene Biosciences ready-to-package AAV shRNAs for GIPC3 gene
Clone Products
-
OriGene ORF clones in human for GIPC3
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for GIPC3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for GIPC3
-
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
Expression for GIPC3 Gene
mRNA differential expression in normal tissues according to GTEx for GIPC3 Gene
This gene is overexpressed in Esophagus - Muscularis (x5.2).
This gene is overexpressed in Peripheral blood mononuclear cells (33.0), Platelet (11.8), and Adrenal (6.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GIPC3 Gene
NURSA nuclear receptor signaling pathways regulating expression of GIPC3 Gene:
GIPC3SOURCE GeneReport for Unigene cluster for GIPC3 Gene:
Hs.266873mRNA Expression by UniProt/SwissProt for GIPC3 Gene:
Q8TF64-GIPC3_HUMAN
Tissue specificity:
Widely expressed in adult and fetal tissues. Highest levels are found in jejunum, lymph node, parietal lobe, fetal spleen and fetal thymus. Expressed in cervical, melanoma, chronic myelogenous and gastric cancer cell lines.
Phenotype-based relationships between genes and organs from Gene ORGANizer for GIPC3 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- nervous
- skeletal muscle
- skeleton
Organs:
Head and neck:
- brain
- cerebellum
- cranial nerve
- ear
- eye
- head
- inner ear
- middle ear
- outer ear
- skull
General:
- peripheral nerve
- peripheral nervous system
Primer Products
-
OriGene qPCR primer pairs for GIPC3
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and Evidence on tissue expression from TISSUES for GIPC3 Gene
Orthologs for GIPC3 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | GIPC3 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | GIPC3 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | GIPC3 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | GIPC3 35 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Gipc3 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Gipc3 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | GIPC3 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | LOC100857667 34 |
|
||
| GIPC3 35 |
|
OneToOne | |||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | gipc3 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | zgc:136839 34 |
|
||
| GIPC3 35 |
|
OneToOne | |||
| fruit fly (Drosophila melanogaster) |
Insecta | kermit 34 35 |
|
||
| l(2)02045 36 |
|
|
|||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007674 34 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | C35D10.2 36 |
|
|
|
| F44D12.4 36 |
|
|
|||
| gipc-2 35 |
|
ManyToMany | |||
| gipc-1 35 |
|
ManyToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
OneToMany |
- Species where no ortholog for GIPC3 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- 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)
- lizard (Anolis carolinensis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Paralogs for GIPC3 Gene
Variants for GIPC3 Gene
| SNP ID | Clin | Chr 19 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs387906999 | Pathogenic, Deafness, autosomal recessive, 15 (DFNB15) [MIM:601869] | 3,589,910(+) | CGAGC(G/T)GGGTA | reference, missense | |
| rs387907001 | Pathogenic, Deafness, autosomal recessive, 15 (DFNB15) [MIM:601869] | 3,589,892(+) | CATGG(A/G)CATTC | reference, missense | |
| rs387907002 | Pathogenic, Deafness, autosomal recessive, 15 (DFNB15) [MIM:601869] | 3,586,967(+) | CCCTG(C/T)GCCTG | reference, missense | |
| rs761543680 | Deafness, autosomal recessive, 15 (DFNB15) [MIM:601869] | 3,589,512(+) | GGAGA(C/T)CCTGC | reference, missense | |
| rs763523474 | Deafness, autosomal recessive, 15 (DFNB15) [MIM:601869] | 3,586,550(+) | GGGGG(A/C/G)TCAGA | reference, missense |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3366545 | CNV | duplication | 20981092 |
| nsv1146030 | CNV | deletion | 26484159 |
| nsv470114 | CNV | loss | 18288195 |
| nsv833713 | CNV | loss | 17160897 |
| nsv953948 | CNV | deletion | 24416366 |
Residual Variation Intolerance Score:
55.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.33;
26.46% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for GIPC3 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GIPC3 Gene
Disorders for GIPC3 Gene
(8) MalaCards diseases for GIPC3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| deafness, autosomal recessive 15 |
|
|
| autosomal recessive non-syndromic sensorineural deafness type dfnb |
|
|
| nonsyndromic deafness |
|
|
| dfnb15 nonsyndromic hearing loss and deafness |
|
|
| nonsyndromic hearing loss and deafness |
|
|
Search GIPC3 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
GIPC3_HUMAN- Deafness, autosomal recessive, 15 (DFNB15) [MIM:601869]: A form of non-syndromic sensorineural hearing loss with prelingual onset. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269 PubMed:21326233, ECO:0000269 PubMed:21660509}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Relevant External Links for GIPC3
No data available for Genatlas for GIPC3 Gene
Publications for GIPC3 Gene
- Molecular cloning and characterization of human GIPC3, a novel gene homologous to human GIPC1 and GIPC2. (PMID: 11836571) Saitoh T. … Katoh M. (Int. J. Oncol. 2002) 2 3 4 22 64
- Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human. (PMID: 21326233) Charizopoulou N. … Noben-Trauth K. (Nat. Commun. 2011) 2 3 4 64
- Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p. (PMID: 21660509) Rehman A.U. … Friedman T.B. (Hum. Genet. 2011) 3 4 64
- Evaluating new candidate SNPs as low penetrance risk factors in sporadic breast cancer: a two-stage Spanish case-control study. (PMID: 18950845) Vega A. … Carracedo A. (Gynecol. Oncol. 2009) 3 46 64
- The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J. … Lucas S.M. (Nature 2004) 3 4 64
Products for GIPC3 Gene
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- Browse R&D Systems for biochemical assays
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- Invitrogen Antibodies for GIPC3
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- antibodies-online Antibodies for GIPC3: See all 43
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- GeneTex GIPC3 antibody for GIPC3
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- VectorBuilder custom plasmid, inducible vectors for GIPC3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for GIPC3
- 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
Sources for GIPC3 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) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
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- (100) COMPARTMENTS
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- (105) antibodies-online
- (106) CYP
- (107) NONCODE
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- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
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- (155) Gene ORGANizer