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 Dfnb15 Nonsyndromic Hearing Loss And Deafness. An important paralog of this gene is GIPC2.
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 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
| GeneHancer Identifier | Score | Enhancer Sources | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Other Gene Targets for Enhancer |
|---|
Enhancers around GIPC3 on UCSC Golden Path with GeneCards custom track
Promoters for GIPC3 Gene
| Ensembl Regulatory Elements (ENSRs) | TSS Distance (bp) | Size (bp) | Binding Sites for Transcription Factors within promoters |
|---|
ENSRs 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
Assay Products
No data available for DME Specific Peptides for GIPC3 Gene
Domains & Families for GIPC3 Gene
Gene Families for GIPC3 Gene
Protein Domains for GIPC3 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for GIPC3 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q8TF64- Domain:
-
- Contains 1 PDZ (DHR) domain.
- 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
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
-
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
Clone Products
- OriGene clones in human for GIPC3
- OriGene ORF clones in human,mouse,rat for GIPC3
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
Cell Line Products
-
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
Flow Cytometry Products
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
More details on SuperPathways for GIPC3
No Data Available
Interacting Proteins for GIPC3 Gene
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
Clone Products
- OriGene clones in human for GIPC3
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- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
Flow Cytometry Products
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, MOPED, and MaxQB for GIPC3 Gene
SOURCE GeneReport for Unigene cluster for GIPC3 Gene Hs.266873
mRNA 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.
Primer Products
-
OriGene qPCR primer pairs for GIPC3
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for GIPC3 Gene
Orthologs for GIPC3 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| cow (Bos Taurus) |
Mammalia | GIPC3 35 |
|
||
| dog (Canis familiaris) |
Mammalia | GIPC3 35 |
|
||
| GIPC3 36 |
|
OneToOne | |||
| mouse (Mus musculus) |
Mammalia | Gipc3 35 |
|
||
| Gipc3 16 |
|
||||
| Gipc3 36 |
|
OneToOne | |||
| chimpanzee (Pan troglodytes) |
Mammalia | GIPC3 35 |
|
||
| GIPC3 36 |
|
OneToOne | |||
| rat (Rattus norvegicus) |
Mammalia | Gipc3 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | GIPC3 36 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | GIPC3 36 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | LOC100857667 35 |
|
||
| GIPC3 36 |
|
OneToOne | |||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | gipc3 35 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | zgc:136839 35 |
|
||
| GIPC3 36 |
|
OneToOne | |||
| fruit fly (Drosophila melanogaster) |
Insecta | l(2)02045 37 |
|
|
|
| kermit 35 |
|
||||
| kermit 36 |
|
OneToMany | |||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007674 35 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | C35D10.2 37 |
|
|
|
| F44D12.4 37 |
|
|
|||
| gipc-1 36 |
|
ManyToMany | |||
| gipc-2 36 |
|
ManyToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 36 |
|
OneToMany |
- Species with no ortholog for GIPC3:
-
- 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
(2) SIMAP similar genes for GIPC3 Gene using alignment to 1 proteins:
Variants for GIPC3 Gene
| SNP ID | Clin | Chr 19 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| VAR_065967 | Deafness, autosomal recessive, 15 (DFNB15) | ||||
| VAR_065968 | Deafness, autosomal recessive, 15 (DFNB15) | ||||
| VAR_065969 | Deafness, autosomal recessive, 15 (DFNB15) | ||||
| VAR_065970 | Deafness, autosomal recessive, 15 (DFNB15) | ||||
| VAR_065971 | Deafness, autosomal recessive, 15 (DFNB15) |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv910722 | CNV | Loss | 21882294 |
| nsv910723 | CNV | Loss | 21882294 |
| dgv3651n71 | CNV | Loss | 21882294 |
| nsv470114 | CNV | Loss | 18288195 |
| dgv3652n71 | CNV | Loss | 21882294 |
| dgv3655n71 | CNV | Loss | 21882294 |
| dgv3656n71 | CNV | Loss | 21882294 |
| dgv3657n71 | CNV | Loss | 21882294 |
| nsv910748 | CNV | Loss | 21882294 |
| nsv833713 | CNV | Loss | 17160897 |
| dgv3658n71 | CNV | Loss | 21882294 |
| nsv910752 | CNV | Loss | 21882294 |
| dgv3659n71 | CNV | Loss | 21882294 |
| dgv3660n71 | CNV | Loss | 21882294 |
| dgv3661n71 | CNV | Loss | 21882294 |
| nsv910762 | CNV | Loss | 21882294 |
| nsv910763 | CNV | Loss | 21882294 |
| nsv910764 | CNV | Loss | 21882294 |
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
- Human Gene Mutation Database (HGMD)
- GIPC3
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GIPC3 Gene
Disorders for GIPC3 Gene
(9) MalaCards diseases for GIPC3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| deafness, autosomal recessive 15 |
|
|
| dfnb15 nonsyndromic hearing loss and deafness |
|
|
| autosomal recessive non-syndromic sensorineural deafness type dfnb |
|
|
| deafness, autosomal recessive |
|
|
| audiogenic seizures |
|
|
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 23 67
- 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
- GIPC gene family (Review). (PMID: 12011974) Katoh M. (Int. J. Mol. Med. 2002) 3 23
- A canonical splice site mutation in GIPC3 causes sensorineural hearing loss in a large Pakistani family. (PMID: 25296581) Siddiqi S. … Schraders M. (J. Hum. Genet. 2014) 3
- Homozygosity mapping identifies a novel GIPC3 mutation causing congenital nonsyndromic hearing loss in a Saudi family. (PMID: 23510777) Ramzan K. … Imtiaz F. (Gene 2013) 3
Products for GIPC3 Gene
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- OriGene Purified Proteins for GIPC3
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- OriGene qPCR primer pairs for GIPC3
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- Novus Biologicals Antibodies for GIPC3
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- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- antibodies-online Antibodies for GIPC3: See all 43
- Search antibodies-online for kits
- antibodies-online Proteins for GIPC3: See all 4
- Search antibodies-online for peptides
- GeneTex GIPC3 antibody for GIPC3
- Search GeneTex for Proteins for GIPC3
- ViGene Biosciences adenoviral particle packaged cDNA for GIPC3 gene
- ViGene Biosciences lentiviral 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
- ViGene Biosciences ready-to-package AAV shRNAs for GIPC3 gene
- ViGene Biosciences ready-to-package AAV shRNAs for GIPC3 gene
- Search ViGene Biosciences for GIPC3
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- Santa Cruz Biotechnology (SCBT) Antibodies for GIPC3
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- Santa Cruz Biotechnology (SCBT) CRISPR for GIPC3
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) I2D
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) UniGene
- (28) AceView
- (29) RNAdb
- (30) ASD
- (31) ECgene
- (32) GeneAnnot
- (33) SAGE
- (34) SOURCE
- (35) HomoloGene
- (36) PanEnsembl
- (37) euGenes
- (38) SGD
- (39) FlyBase
- (40) WormBase
- (41) Pseudogene
- (42) DGV
- (43) dbSNP
- (44) HapMap
- (45) GenAtlas
- (46) GeneTests
- (47) HGMD
- (48) GAD
- (49) LSDB
- (50) BGMUT
- (51) HuGE
- (52) eBioscience
- (53) Atlas
- (54) Cell Signaling Technology
- (55) GenBank
- (56) H-invDB
- (57) HORDE
- (58) HUGE
- (59) IMGT
- (60) Leiden
- (61) MILLIPORE
- (62) miRBase
- (63) DME
- (64) Nature
- (65) NCBI
- (66) OriGene
- (67) PubMed
- (68) R&D Systems
- (69) Salk
- (70) TGDB
- (71) Tufts
- (72) YEDA
- (73) CROW21
- (74) Tocris
- (75) Abcam
- (76) Novus
- (77) ProSpec
- (78) Sino Biological
- (79) GenScript
- (80) Qiagen
- (81) Cloud-Clone Corp.
- (82) Enzo Life Sciences
- (83) OCA
- (84) Proteopedia
- (85) MOPED
- (86) SPIRE
- (87) neXtProt
- (88) Reactome
- (89) GeneGo (Thomson Reuters)
- (90) fRNAdb
- (91) DISEASES
- (92) SIMAP
- (93) GenomeRNAi
- (94) LifeMap
- (95) miRTarBase
- (96) MalaCards
- (97) Invitrogen
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- (105) BioGPS
- (106) Illumina
- (107) COMPARTMENTS
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- (109) PaxDb
- (110) ApexBio
- (111) Addgene
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- (113) antibodies-online
- (114) CYP
- (115) NONCODE
- (116) SwitchGear Genomics
- (117) TreeFam
- (118) PathCards
- (119) GeneReviews
- (120) GeneTex
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- (136) Genetics Home Reference
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- (138) MedlinePlus
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- (141) NCBI Bookshelf
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- (148) FANTOM5
- (149) ENCODE
- (150) ProSci
- (151) Horizon