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:0003674	Function	Molecular_function	ND
GO:0005515	Function	Protein binding	IPI	25416956, 31515488, 32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0008150	Process	Biological_process	ND
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

Causal
Disease term	Disease name	dbSNP ID	References
Lung adenocarcinoma	Adenocarcinoma of lung (disorder)	rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370, rs760043106, rs1057519788, rs1131692238, rs1131692237, rs1554350382	28604730
Lung carcinoma	Carcinoma of lung	rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355, rs121912470, rs121913273, rs121913281, rs121913348, rs727503093, rs121913353, rs397516890, rs397516896, rs121913378, rs397516897, rs397516977, rs397516978, rs397516979, rs397516980, rs397516981, rs397516982, rs121913240, rs17851045, rs397517086, rs121913428, rs397517094, rs397517098, rs397517106, rs121913465, rs397517108, rs397517111, rs397517112, rs397517114, rs397517116, rs1554350366, rs397517127, rs397517200, rs397517202, rs121913283, rs121913370, rs121913357, rs727503106, rs121913238, rs727503108, rs397517040, rs397516976, rs1555618025, rs1057519729, rs1584238193	28604730
Psoriasis	Psoriasis	rs281875215, rs587777763, rs281875213, rs281875212	28537254
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	31374203

Unknown
Disease term	Disease name	Evidence	References	Source
Crohn Disease	Crohn Disease			GWAS
Metabolic Syndrome	Metabolic Syndrome			GWAS
Melanoma	Melanoma	SMAD3 and SLC9A5 gain?of?function increases invasion capability of melanoma cells.		GWAS, CBGDA
Insomnia	Insomnia			GWAS
Pulmonary Fibrosis	Pulmonary Fibrosis			GWAS
Heart Failure	Heart Failure			GWAS

Associations from Text Mining
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
Skin Neoplasms	Associate	35018451