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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
  • SemaF Cytoplasmic Domain Associated Protein 2 3
  • GIPC PDZ Domain Containing Family, Member 2 2
  • PDZ Domain-Containing Protein GIPC2 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
  • GC01P078223
  • GC01P078284
  • GC01P078445
  • GC01P076643

Summaries for GIPC2 Gene

GeneCards Summary for GIPC2 Gene

GIPC2 (GIPC PDZ Domain Containing Family Member 2) is a Protein Coding gene. 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 , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GIPC2 Gene

Genomics for GIPC2 Gene

GeneHancer (GH) Regulatory Elements for GIPC2 Gene

Promoters and enhancers for GIPC2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I077975 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 558.6 -1.3 -1260 5.5 CLOCK FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF143 SP3 SSRP1 ZNF610 GIPC2 DNAJB4 FUBP1 NSRP1P1 ENSG00000273338 USP33 ZZZ3 NEXN NEXN-AS1
GH01I078044 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 558.3 +66.8 66791 3.7 ELF3 ARID4B DMAP1 RAD21 DNMT3B THRB ZNF48 RARA YY1 CHAMP1 GIPC2 RNU6-1102P LOC100422537 NEXN LOC100131495
GH01I078002 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 7.4 +27.4 27387 8.6 HDGF HNRNPUL1 PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A FEZF1 ZNF2 DNAJB4 NSRP1P1 FUBP1 ENSG00000273338 USP33 ZZZ3 GIPC2 NEXN LOC100131495
GH01I077886 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 8 -90.1 -90142 5 HDGF SIN3A DMAP1 ZNF2 ZNF121 GLIS2 FOS KLF13 YY2 REST NEXN-AS1 NEXN USP33 GIPC2 FUBP1 IFI44
GH01I077680 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 7.9 -296.6 -296645 4 HDGF PKNOX1 CLOCK SMAD1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZZZ3 FUBP1 RPL17P6 ENSG00000273338 NEXN GIPC2 AK5 DNAJB4 RN7SL370P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GIPC2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GIPC2 gene promoter:

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)

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

No Post-translational modifications

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

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for GIPC2 Gene

GenScript: Design optimal peptide antigens:

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 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

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
extracellular 5
cytosol 4
nucleus 2
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleus (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:0031982 colocalizes_with vesicle IBA --
GO:0070062 extracellular exosome HDA,IDA 19056867
genes like me logo Genes that share ontologies with GIPC2: view

Pathways & Interactions for GIPC2 Gene

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

Unigene Clusters for GIPC2 Gene

GIPC PDZ domain containing family, member 2:
Representative Sequences:

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
ECgene alternative splicing isoforms for
GIPC2

Expression for GIPC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for GIPC2 Gene



NURSA nuclear receptor signaling pathways regulating expression of GIPC2 Gene:

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 33 34
  • 99.7 (n)
cow
(Bos Taurus)
Mammalia GIPC2 33 34
  • 87.29 (n)
dog
(Canis familiaris)
Mammalia GIPC2 34
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gipc2 33
  • 82.42 (n)
mouse
(Mus musculus)
Mammalia Gipc2 33 16 34
  • 81.03 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GIPC2 34
  • 67 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GIPC2 34
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves GIPC2 33 34
  • 70.3 (n)
lizard
(Anolis carolinensis)
Reptilia GIPC2 34
  • 65 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia GIPC 33
zebrafish
(Danio rerio)
Actinopterygii gipc2 33 34
  • 67.31 (n)
fruit fly
(Drosophila melanogaster)
Insecta l(2)02045 35
  • 49 (a)
kermit 34
  • 44 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C35D10.2 35
  • 36 (a)
F44D12.4 35
  • 35 (a)
gipc-1 34
  • 30 (a)
ManyToMany
gipc-2 34
  • 29 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 46 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7918 33
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)

Paralogs for GIPC2 Gene

Paralogs for GIPC2 Gene

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

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

Variants for GIPC2 Gene

Sequence variations from dbSNP and Humsavar for GIPC2 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000056492 -- 78,094,805(+) T/A intron_variant
rs1000073774 -- 78,048,032(+) G/A intron_variant
rs1000076258 -- 78,105,781(+) G/A intron_variant
rs1000128860 -- 78,061,193(+) A/G intron_variant
rs1000129652 -- 78,105,490(+) G/T intron_variant

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

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

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

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

Disorders for GIPC2 Gene

Additional Disease Information for GIPC2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for GIPC2 Gene.

No data available for MalaCards , 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 22 58
  2. Hundreds of variants clustered in genomic loci and biological pathways affect human height. (PMID: 20881960) Lango Allen H … Hirschhorn JN (Nature 2010) 3 44 58
  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 44 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  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 58

Products for GIPC2 Gene

  • Addgene plasmids for GIPC2

Sources for GIPC2 Gene

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