GIPC2 (GIPC PDZ domain containing family member 2)

Gene

• Entrez ID: 54810
• Gene name: GIPC PDZ domain containing family member 2
• Gene symbol: GIPC2
• Synonyms (NCBI Gene): SEMCAP-2, SEMCAP2
• Chromosome: 1
• Chromosome location: 1p31.1

miRNA

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
MIRT2001878	hsa-miR-4659a-3p	CLIP-seq
MIRT2001879	hsa-miR-4659b-3p	CLIP-seq
MIRT2001880	hsa-miR-466	CLIP-seq
MIRT2001881	hsa-miR-4756-3p	CLIP-seq
MIRT2234909	hsa-miR-106a	CLIP-seq
MIRT2234910	hsa-miR-106b	CLIP-seq
MIRT2234911	hsa-miR-141	CLIP-seq
MIRT2234912	hsa-miR-17	CLIP-seq
MIRT2234913	hsa-miR-200a	CLIP-seq
MIRT2234914	hsa-miR-20a	CLIP-seq
MIRT2234915	hsa-miR-20b	CLIP-seq
MIRT2001875	hsa-miR-2467-3p	CLIP-seq
MIRT2001876	hsa-miR-3678-3p	CLIP-seq
MIRT2234916	hsa-miR-4310	CLIP-seq
MIRT2234917	hsa-miR-519d	CLIP-seq
MIRT2234918	hsa-miR-548t	CLIP-seq
MIRT2234919	hsa-miR-587	CLIP-seq
MIRT2234920	hsa-miR-93	CLIP-seq
MIRT2001875	hsa-miR-2467-3p	CLIP-seq
MIRT2001876	hsa-miR-3678-3p	CLIP-seq
MIRT2388456	hsa-miR-4643	CLIP-seq
MIRT2001880	hsa-miR-466	CLIP-seq
MIRT2388457	hsa-miR-4789-3p	CLIP-seq

Gene ontology (GO)

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

• MIM: 619089
• HGNC: 18177
• e!Ensembl: 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
  KLKELKKEELFTMKLIEPKKAFEIELRSKAGKSSGEKIGCGRATLRLRSKGPATVEEMPS
  ETKAKAIEKIDDVLELYMGIRDIDLATTMFEAGKDKVNPDEFAVALDETLGDFAFPDEFV
  FDVWGVIGDAKRRGL

• Sequence length: 315

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS MELANOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HODGKINS LYMPHOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC PULMONARY FIBROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MORBID OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE MYELOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-HODGKINS LYMPHOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	23743496		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	GWASCAT_DG	28604730		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12011997		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	GWASCAT_DG	28604730		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	36799193	Inhibit	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	39399504	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	11836570		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36281556	Inhibit	★☆☆☆☆ Found in Text Mining only
Digestive System Neoplasms	Digestive system neoplasm	Pubtator	36799193	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	35018451	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	BEFREE	11836570		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12011997		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	23743496		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	12011997		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	23743496		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	11836570		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	23743496		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	35347223	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	GWASCAT_DG	28537254		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	31374203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skin Neoplasms	Skin neoplasm	Pubtator	35018451	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	12011997		★☆☆☆☆ Found in Text Mining only