Aliases for GIPC2 Gene

Aliases for GIPC2 Gene

  • GIPC PDZ Domain Containing Family Member 2 2 3 5
  • Semaphorin Cytoplasmic Domain Associated Protein 2 2 3
  • PDZ Domain-Containing Protein GIPC2 3 4
  • SemaF Cytoplasmic Domain Associated Protein 2 3
  • GIPC PDZ Domain Containing Family, Member 2 2
  • Epididymis Secretory Sperm Binding Protein 3
  • PDZ Domain Protein GIPC2 3
  • SEMCAP-2 3
  • SEMCAP2 3

External Ids for GIPC2 Gene

Previous GeneCards Identifiers for GIPC2 Gene

  • GC01P078664
  • GC01M077458
  • GC01P077902
  • GC01P077934
  • GC01P078223
  • GC01P078284
  • GC01P078445
  • GC01P076643
  • GC01P077980

Summaries for GIPC2 Gene

GeneCards Summary for GIPC2 Gene

GIPC2 (GIPC PDZ Domain Containing Family Member 2) is a Protein Coding gene. Diseases associated with GIPC2 include Waardenburg Syndrome, Type 4A. An important paralog of this gene is GIPC1.

Gene Wiki entry for GIPC2 Gene

Additional gene information for GIPC2 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GIPC2 Gene

Genomics for GIPC2 Gene

GeneHancer (GH) Regulatory Elements for GIPC2 Gene

Promoters and enhancers for GIPC2 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 GIPC2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GIPC2

Top Transcription factor binding sites by QIAGEN in the GIPC2 gene promoter:
  • Lmo2
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4
  • RORalpha2
  • RP58
  • Sox5
  • STAT1

Genomic Locations for GIPC2 Gene

Genomic Locations for GIPC2 Gene
chr1:77,979,542-78,138,449
(GRCh38/hg38)
Size:
158,908 bases
Orientation:
Plus strand
chr1:78,445,226-78,604,133
(GRCh37/hg19)
Size:
158,908 bases
Orientation:
Plus strand

Genomic View for GIPC2 Gene

Genes around GIPC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GIPC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GIPC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GIPC2 Gene

Proteins for GIPC2 Gene

  • Protein details for GIPC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TF65-GIPC2_HUMAN
    Recommended name:
    PDZ domain-containing protein GIPC2
    Protein Accession:
    Q8TF65
    Secondary Accessions:
    • Q8IYD3
    • Q9NXS7

    Protein attributes for GIPC2 Gene

    Size:
    315 amino acids
    Molecular mass:
    34354 Da
    Quaternary structure:
    • Probably interacts with SEMA5A.
    SequenceCaution:
    • Sequence=BAA90933.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GIPC2 Gene

neXtProt entry for GIPC2 Gene

Post-translational modifications for GIPC2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GIPC2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GIPC2 Gene

Domains & Families for GIPC2 Gene

Gene Families for GIPC2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for GIPC2 Gene

Blocks:
  • PDZ/DHR/GLGF domain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GIPC2 Gene

GenScript: Design optimal peptide antigens:
  • PDZ domain-containing protein GIPC2 (GIPC2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8TF65

UniProtKB/Swiss-Prot:

GIPC2_HUMAN :
  • Belongs to the GIPC family.
Family:
  • Belongs to the GIPC family.
genes like me logo Genes that share domains with GIPC2: view

Function for GIPC2 Gene

Phenotypes From GWAS Catalog for GIPC2 Gene

Gene Ontology (GO) - Molecular Function for GIPC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IEA,IPI 25416956
GO:0042802 identical protein binding IPI 25416956
genes like me logo Genes that share ontologies with GIPC2: view
genes like me logo Genes that share phenotypes with GIPC2: view

Animal Model Products

CRISPR Products

miRNA for GIPC2 Gene

miRTarBase miRNAs that target GIPC2

Clone Products

  • Addgene plasmids for GIPC2

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GIPC2 Gene

Localization for GIPC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GIPC2 Gene

Cytoplasm.

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 GIPC2 gene
Compartment Confidence
cytosol 4
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 0
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GIPC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with GIPC2: view

Pathways & Interactions for GIPC2 Gene

PathCards logo

SuperPathways for GIPC2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for GIPC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with GIPC2: view

No data available for Pathways by source and SIGNOR curated interactions for GIPC2 Gene

Drugs & Compounds for GIPC2 Gene

No Compound Related Data Available

Transcripts for GIPC2 Gene

mRNA/cDNA for GIPC2 Gene

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

CRISPR Products

Clone Products

  • Addgene plasmids for GIPC2

Alternative Splicing Database (ASD) splice patterns (SP) for GIPC2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6
SP1:
SP2: -

Relevant External Links for GIPC2 Gene

GeneLoc Exon Structure for
GIPC2

Expression for GIPC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GIPC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GIPC2 Gene

This gene is overexpressed in Adrenal Gland (x6.8), Pancreas (x5.8), Spleen (x4.8), and Kidney - Cortex (x4.3).

Protein differential expression in normal tissues from HIPED for GIPC2 Gene

This gene is overexpressed in Spleen (16.2) and Fetal gut (11.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GIPC2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GIPC2

SOURCE GeneReport for Unigene cluster for GIPC2 Gene:

Hs.659356

mRNA Expression by UniProt/SwissProt for GIPC2 Gene:

Q8TF65-GIPC2_HUMAN
Tissue specificity: Expressed at highest levels in ascending colon and at moderate levels in adult kidney. Expressed at low levels in adult pancreas and at very low levels in adult liver. Expression is down-regulated in several primary tumors, such as kidney, colon and rectal tumors.

Evidence on tissue expression from TISSUES for GIPC2 Gene

  • Intestine(4.3)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with GIPC2: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for GIPC2 Gene

Orthologs for GIPC2 Gene

This gene was present in the common ancestor of animals.

Orthologs for GIPC2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GIPC2 31 30
  • 99.7 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GIPC2 31 30
  • 87.29 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GIPC2 31
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gipc2 30
  • 82.42 (n)
mouse
(Mus musculus)
Mammalia Gipc2 17 31 30
  • 81.03 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GIPC2 31
  • 67 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GIPC2 31
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves GIPC2 31 30
  • 70.3 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GIPC2 31
  • 65 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia GIPC 30
zebrafish
(Danio rerio)
Actinopterygii gipc2 31 30
  • 67.31 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta l(2)02045 32
  • 49 (a)
kermit 31
  • 44 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C35D10.2 32
  • 36 (a)
F44D12.4 32
  • 35 (a)
gipc-1 31
  • 30 (a)
ManyToMany
gipc-2 31
  • 29 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 46 (a)
OneToMany
Cin.7918 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7918 30
Species where no ortholog for GIPC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for GIPC2 Gene

ENSEMBL:
Gene Tree for GIPC2 (if available)
TreeFam:
Gene Tree for GIPC2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GIPC2: view image

Paralogs for GIPC2 Gene

Paralogs for GIPC2 Gene

(2) SIMAP similar genes for GIPC2 Gene using alignment to 1 proteins:

  • GIPC2_HUMAN
genes like me logo Genes that share paralogs with GIPC2: view

Variants for GIPC2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GIPC2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs17101180 - p.Ser61Phe
rs540742 - p.Leu206Pro

Additional dbSNP identifiers (rs#s) for GIPC2 Gene

Structural Variations from Database of Genomic Variants (DGV) for GIPC2 Gene

Variant ID Type Subtype PubMed ID
dgv112n106 CNV deletion 24896259
esv1010689 CNV deletion 20482838
esv1368582 CNV deletion 17803354
esv2673736 CNV deletion 23128226
esv2750174 CNV deletion 23290073
esv3564493 CNV deletion 23714750
esv3586534 CNV loss 21293372
nsv1076554 CNV deletion 25765185
nsv159417 CNV deletion 16902084
nsv954769 CNV deletion 24416366

Variation tolerance for GIPC2 Gene

Residual Variation Intolerance Score: 78.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.57; 72.28% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GIPC2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GIPC2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GIPC2 Gene

Disorders for GIPC2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GIPC2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
waardenburg syndrome, type 4a
  • ws4a
- elite association - COSMIC cancer census association via MalaCards
Search GIPC2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GIPC2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GIPC2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GIPC2 Gene

Publications for GIPC2 Gene

  1. Molecular cloning and characterization of human GIPC2, a novel gene homologous to human GIPC1 and Xenopus Kermit. (PMID: 11836570) Kirikoshi H … Katoh M (International journal of oncology 2002) 2 3 4 23 54
  2. Hundreds of variants clustered in genomic loci and biological pathways affect human height. (PMID: 20881960) Lango Allen H … Hirschhorn JN (Nature 2010) 3 41 54
  3. Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. (PMID: 18978678) Vieira AR … Marazita ML (Genetics in medicine : official journal of the American College of Medical Genetics 2008) 3 41 54
  4. 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 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for GIPC2 Gene

Sources for GIPC2 Gene