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 Nonsyndromic Deafness. 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.
Additional gene information for GIPC3 Gene
- Monarch Initiative
- Search for GIPC3 at DataMed
- Search for GIPC3 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GIPC3 Gene
Genomics for GIPC3 Gene
GeneHancer (GH) Regulatory Elements for GIPC3 Gene
Regulatory Element Products
Genomic Locations for GIPC3 Gene
- chr19:3,585,541-3,593,541
- (GRCh38/hg38)
- Size:
- 8,001 bases
- Orientation:
- Plus strand
- chr19:3,585,551-3,593,539
- (GRCh37/hg19)
Genomic View for GIPC3 Gene
- Cytogenetic band:
-
- 19p13.3 by Ensembl
- 19p13.3 by Entrez Gene
- 19p13.3 by HGNC


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
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-
Abcam antibodies for GIPC3
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-
Santa Cruz Biotechnology (SCBT) Antibodies for GIPC3
Protein Products
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Quality Products:
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-
Abcam 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
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
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
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-
-
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-
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CRISPR Products
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Clone Products
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-
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- 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
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-
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Cell Line Products
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No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targets and HOMER Transcription for GIPC3 Gene
Localization for GIPC3 Gene
- Golgi apparatus (2)
- Nuclear bodies (2)
- Nucleoplasm (2)
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0031982 | colocalizes_with vesicle | IBA | -- |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for GIPC3 Gene
Pathways & Interactions 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
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-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for GIPC3
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miRNA Products
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Inhibitory RNA Products
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-
ViGene Biosciences ready-to-package AAV shRNAs for GIPC3 gene
Clone Products
- 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
- Applied Biological Materials Clones for GIPC3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for GIPC3 Gene
mRNA differential expression in normal tissues according to GTEx for GIPC3 Gene
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_HUMANPhenotype-based relationships between genes and organs from Gene ORGANizer for GIPC3 Gene
- ectoderm
- endoderm
- mesoderm
- nervous
- skeletal muscle
- skeleton
- brain
- cerebellum
- cranial nerve
- ear
- eye
- head
- inner ear
- middle ear
- outer ear
- skull
- peripheral nerve
- peripheral nervous system
Primer Products
-
OriGene qPCR primer pairs for GIPC3
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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 33 34 |
|
||
dog (Canis familiaris) |
Mammalia | GIPC3 33 34 |
|
||
cow (Bos Taurus) |
Mammalia | GIPC3 33 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | GIPC3 34 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Gipc3 33 16 34 |
|
||
rat (Rattus norvegicus) |
Mammalia | Gipc3 33 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | GIPC3 34 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | LOC100857667 33 |
|
||
GIPC3 34 |
|
OneToOne | |||
tropical clawed frog (Silurana tropicalis) |
Amphibia | gipc3 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | zgc:136839 33 |
|
||
GIPC3 34 |
|
OneToOne | |||
fruit fly (Drosophila melanogaster) |
Insecta | kermit 33 34 |
|
||
l(2)02045 35 |
|
|
|||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007674 33 |
|
||
worm (Caenorhabditis elegans) |
Secernentea | C35D10.2 35 |
|
|
|
F44D12.4 35 |
|
|
|||
gipc-2 34 |
|
ManyToMany | |||
gipc-1 34 |
|
ManyToMany | |||
sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
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 | Variation | AA Info | Type |
---|---|---|---|---|---|
rs387906999 | pathogenic, Deafness, autosomal recessive 15, Deafness, autosomal recessive, 15 (DFNB15) [MIM:601869] | 3,589,910(+) | T/G | coding_sequence_variant, missense_variant | |
rs387907000 | pathogenic, Deafness, autosomal recessive 15 | 3,590,154(+) | G/A | coding_sequence_variant, missense_variant, stop_gained | |
rs387907001 | pathogenic, Deafness, autosomal recessive 15, Deafness, autosomal recessive, 15 (DFNB15) [MIM:601869] | 3,589,892(+) | G/A | coding_sequence_variant, missense_variant | |
rs387907002 | pathogenic, Deafness, autosomal recessive 15, Deafness, autosomal recessive, 15 (DFNB15) [MIM:601869] | 3,586,967(+) | C/A/T | coding_sequence_variant, missense_variant | |
rs727503062 | likely-pathogenic, Nonsyndromic hearing loss and deafness, not provided | 3,585,719(+) | C/A | coding_sequence_variant, missense_variant |
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 |
Additional Variant Information for GIPC3 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GIPC3 Gene
Disorders for GIPC3 Gene

(7) MalaCards diseases for GIPC3 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
Disorder | Aliases | PubMed IDs |
---|---|---|
deafness, autosomal recessive 15 |
|
|
nonsyndromic deafness |
|
|
non-syndromic genetic deafness |
|
|
autosomal recessive non-syndromic sensorineural deafness type dfnb |
|
|
audiogenic seizures |
|
|
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.
Additional Disease Information for GIPC3
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (International journal of oncology 2002) 2 3 4 22 58
- Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human. (PMID: 21326233) Charizopoulou N … Noben-Trauth K (Nature communications 2011) 2 3 4 58
- Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p. (PMID: 21660509) Rehman AU … Friedman TB (Human genetics 2011) 3 4 58
- 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 (Gynecologic oncology 2009) 3 44 58
- The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J … Lucas SM (Nature 2004) 3 4 58
Products for GIPC3 Gene
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- 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 46 available GIPC3 Antibodies ranked by validation data
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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) 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