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] See more...

Aliases for GIPC3 Gene

Aliases for GIPC3 Gene

  • GIPC PDZ Domain Containing Family Member 3 2 3 5
  • PDZ Domain-Containing Protein GIPC3 3 4
  • C19orf64 3 4
  • DFNB95 2 3
  • GIPC PDZ Domain Containing Family, Member 3 2
  • Chromosome 19 Open Reading Frame 64 2
  • Deafness, Autosomal Recessive 72 2
  • Deafness, Autosomal Recessive 15 2
  • DFNB15 3
  • DFNB72 3
  • GIPC3 5

External Ids for GIPC3 Gene

Previous HGNC Symbols for GIPC3 Gene

  • C19orf64
  • DFNB72
  • DFNB15

Previous GeneCards Identifiers for GIPC3 Gene

  • GC19P003677
  • GC19P003654
  • GC19P003525
  • GC19P003536
  • GC19P003351

Summaries for GIPC3 Gene

Entrez Gene Summary 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 Rare Genetic Deafness. An important paralog of this gene is GIPC1.

UniProtKB/Swiss-Prot Summary for GIPC3 Gene

  • Required for postnatal maturation of the hair bundle and long-term survival of hair cells and spiral ganglion.

Gene Wiki entry for GIPC3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GIPC3 Gene

Genomics for GIPC3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GIPC3 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 GIPC3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GIPC3

Top Transcription factor binding sites by QIAGEN in the GIPC3 gene promoter:
  • c-Myc
  • CBF(2)
  • HEN1
  • LUN-1
  • Max1
  • NF-Y
  • NRF-2
  • PPAR-alpha
  • SRY
  • STAT5A

Genomic Locations for GIPC3 Gene

Genomic Locations for GIPC3 Gene
chr19:3,585,478-3,593,541
(GRCh38/hg38)
Size:
8,064 bases
Orientation:
Plus strand
chr19:3,585,551-3,593,539
(GRCh37/hg19)
Size:
7,989 bases
Orientation:
Plus strand

Genomic View for GIPC3 Gene

Genes around GIPC3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GIPC3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GIPC3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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};

neXtProt entry for GIPC3 Gene

Post-translational modifications for GIPC3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GIPC3 Gene

ENSEMBL proteins:
REFSEQ proteins:

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

Protein Domains for GIPC3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GIPC3 Gene

GenScript: Design optimal peptide antigens:
  • PDZ domain-containing protein GIPC3 (GIPC3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8TF64

UniProtKB/Swiss-Prot:

GIPC3_HUMAN :
  • Belongs to the GIPC family.
Family:
  • Belongs to the GIPC family.
genes like me logo Genes that share domains with GIPC3: view

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 From GWAS Catalog for GIPC3 Gene

Gene Ontology (GO) - Molecular Function for GIPC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with GIPC3: view
genes like me logo Genes that share phenotypes with GIPC3: view

Human Phenotype Ontology for GIPC3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GIPC3 Gene

MGI Knock Outs for GIPC3:
  • Gipc3 Gipc3<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GIPC3

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for GIPC3 Gene

Localization for GIPC3 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GIPC3 gene
Compartment Confidence
cytosol 3
nucleus 2
extracellular 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nuclear bodies (2)
  • Nucleoplasm (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for GIPC3 Gene

Pathways & Interactions for GIPC3 Gene

PathCards logo

SuperPathways for GIPC3 Gene

No Data Available

Interacting Proteins for GIPC3 Gene

Gene Ontology (GO) - Biological Process for GIPC3 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for GIPC3 Gene

Drugs & Compounds for GIPC3 Gene

No Compound Related Data Available

Transcripts for GIPC3 Gene

mRNA/cDNA for GIPC3 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GIPC3

Alternative Splicing Database (ASD) splice patterns (SP) for GIPC3 Gene

No ASD Table

Relevant External Links for GIPC3 Gene

GeneLoc Exon Structure for
GIPC3

Expression for GIPC3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GIPC3 Gene

mRNA differential expression in normal tissues according to GTEx for GIPC3 Gene

This gene is overexpressed in Esophagus - Muscularis (x5.2).

Protein differential expression in normal tissues from HIPED for GIPC3 Gene

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, MaxQB, and MOPED for GIPC3 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GIPC3

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.

Phenotype-based relationships between genes and organs from Gene ORGANizer for GIPC3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • inner ear
  • middle ear
  • outer ear
  • skull
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with GIPC3: view

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.

Orthologs for GIPC3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GIPC3 30 31
  • 92.79 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GIPC3 30 31
  • 89.96 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GIPC3 30
  • 89.1 (n)
Oppossum
(Monodelphis domestica)
Mammalia GIPC3 31
  • 84 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Gipc3 30 17 31
  • 83.82 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gipc3 30
  • 83.57 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia GIPC3 31
  • 67 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LOC100857667 30
  • 77.7 (n)
GIPC3 31
  • 71 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gipc3 30
  • 69.74 (n)
Zebrafish
(Danio rerio)
Actinopterygii zgc:136839 30
  • 71.96 (n)
GIPC3 31
  • 64 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta kermit 30 31
  • 61.76 (n)
OneToMany
l(2)02045 32
  • 54 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007674 30
  • 58.76 (n)
Worm
(Caenorhabditis elegans)
Secernentea C35D10.2 32
  • 34 (a)
F44D12.4 32
  • 34 (a)
gipc-2 31
  • 28 (a)
ManyToMany
gipc-1 31
  • 27 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 47 (a)
OneToMany
Species where no ortholog for GIPC3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 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 GIPC3 Gene

ENSEMBL:
Gene Tree for GIPC3 (if available)
TreeFam:
Gene Tree for GIPC3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GIPC3: view image

Paralogs for GIPC3 Gene

Paralogs for GIPC3 Gene

(2) SIMAP similar genes for GIPC3 Gene using alignment to 1 proteins:

  • GIPC3_HUMAN
genes like me logo Genes that share paralogs with GIPC3: view

Variants for GIPC3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GIPC3 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
30755 Pathogenic: Deafness, autosomal recessive 15 3,589,528(+) T/TG FRAMESHIFT_VARIANT
30757 Pathogenic: Deafness, autosomal recessive 15 3,585,733(+) G/A MISSENSE_VARIANT
667114 Likely Benign: not specified 3,586,588(+) C/A SYNONYMOUS_VARIANT
667115 Likely Benign: not specified 3,589,489(+) G/A SYNONYMOUS_VARIANT
667116 Likely Benign: not specified 3,585,672(+) G/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for GIPC3 Gene

Structural Variations from Database of Genomic Variants (DGV) for GIPC3 Gene

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

Variation tolerance for GIPC3 Gene

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)

Additional Variant Information for GIPC3 Gene

Human Gene Mutation Database (HGMD)
GIPC3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GIPC3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GIPC3 Gene

Disorders for GIPC3 Gene

MalaCards: The human disease database

(12) MalaCards diseases for GIPC3 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal recessive 15
  • dfnb15
rare genetic deafness
  • rare genetic hearing loss
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
audiogenic seizures
  • audiogenic seizure
sensorineural hearing loss
  • central hearing loss
- elite association - COSMIC cancer census association via MalaCards
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.

Additional Disease Information for GIPC3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with GIPC3: view

No data available for Genatlas for GIPC3 Gene

Publications for GIPC3 Gene

  1. 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 23
  2. 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
  3. 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
  4. 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 41
  5. 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

Products for GIPC3 Gene

Sources for GIPC3 Gene