Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
54810
Gene name Gene Name - the full gene name approved by the HGNC.
GIPC PDZ domain containing family member 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GIPC2
Synonyms (NCBI Gene) Gene synonyms aliases
SEMCAP-2, SEMCAP2
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p31.1
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT018678 hsa-miR-335-5p Microarray 18185580
MIRT2001874 hsa-miR-1273f CLIP-seq
MIRT2001875 hsa-miR-2467-3p CLIP-seq
MIRT2001876 hsa-miR-3678-3p CLIP-seq
MIRT2001877 hsa-miR-3919 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 31515488, 32296183
GO:0005737 Component Cytoplasm IEA
GO:0042802 Function Identical protein binding IPI 25416956, 32296183
GO:0070062 Component Extracellular exosome HDA 19056867
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
619089 18177 ENSG00000137960
Protein
UniProt ID Q8TF65
Protein name PDZ domain-containing protein GIPC2
PDB 3GGE
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00595 PDZ 117 195 PDZ domain Domain
Tissue specificity 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 kid
Sequence
MPLKLRGKKKAKSKETAGLVEGEPTGAGGGSLSASRAPARRLVFHAQLAHGSATGRVEGF
SSIQELYAQIAGAFEISPSEILYCTLNTPKIDMERLLGGQLGLEDFIFAHVKGIEKEVNV
YKSEDSLGLTITDNGVGYAFIKRIKDGGVIDSVKTICVGDHIESINGENIVGWRHYDVAK
KLKELKKEELFTMKL
IEPKKAFEIELRSKAGKSSGEKIGCGRATLRLRSKGPATVEEMPS
ETKAKAIEKIDDVLELYMGIRDIDLATTMFEAGKDKVNPDEFAVALDETLGDFAFPDEFV
FDVWGVIGDAKRRGL
Sequence length 315
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Crohn Disease Crohn's disease N/A N/A GWAS
Heart Failure Heart failure N/A N/A GWAS
Insomnia Insomnia N/A N/A GWAS
Lung adenocarcinoma Lung adenocarcinoma N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Colonic Neoplasms Inhibit 36799193
Colonic Neoplasms Associate 39399504
Colorectal Neoplasms Inhibit 36281556
Digestive System Neoplasms Associate 36799193
Inflammatory Bowel Diseases Associate 35018451
Neoplasm Metastasis Stimulate 35347223
Neoplasms Associate 19667409, 35347223
Neoplasms Inhibit 33947839
Neoplastic Syndromes Hereditary Associate 33947839
Prostatic Neoplasms Associate 35347223