NECTIN3 (nectin cell adhesion molecule 3)

Gene

• Entrez ID: 25945
• Gene name: Nectin cell adhesion molecule 3
• Gene symbol: NECTIN3
• Synonyms (NCBI Gene): CD113, CDW113, NECTIN-3, PPR3, PRR3, PVRL3, PVRR3
• Chromosome: 3
• Chromosome location: 3q13.13
• Summary: This gene encodes a member of the nectin family of proteins, which function as adhesion molecules at adherens junctions. This family member interacts with other nectin-like proteins and with afadin, a filamentous actin-binding protein involved in the regu

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs79006549	A>C,G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT450740	hsa-miR-548n	PAR-CLIP	22100165
MIRT450739	hsa-miR-548a-5p	PAR-CLIP	22100165
MIRT450738	hsa-miR-548ab	PAR-CLIP	22100165
MIRT450737	hsa-miR-548ad-5p	PAR-CLIP	22100165
MIRT450736	hsa-miR-548ae-5p	PAR-CLIP	22100165
MIRT450735	hsa-miR-548ak	PAR-CLIP	22100165
MIRT450734	hsa-miR-548am-5p	PAR-CLIP	22100165
MIRT450733	hsa-miR-548ap-5p	PAR-CLIP	22100165
MIRT450732	hsa-miR-548aq-5p	PAR-CLIP	22100165
MIRT450731	hsa-miR-548ar-5p	PAR-CLIP	22100165
MIRT450730	hsa-miR-548as-5p	PAR-CLIP	22100165
MIRT450729	hsa-miR-548au-5p	PAR-CLIP	22100165
MIRT450728	hsa-miR-548ay-5p	PAR-CLIP	22100165
MIRT450727	hsa-miR-548b-5p	PAR-CLIP	22100165
MIRT450726	hsa-miR-548bb-5p	PAR-CLIP	22100165
MIRT450725	hsa-miR-548c-5p	PAR-CLIP	22100165
MIRT450724	hsa-miR-548d-5p	PAR-CLIP	22100165
MIRT450723	hsa-miR-548h-5p	PAR-CLIP	22100165
MIRT450722	hsa-miR-548i	PAR-CLIP	22100165
MIRT450721	hsa-miR-548j-5p	PAR-CLIP	22100165
MIRT450720	hsa-miR-548o-5p	PAR-CLIP	22100165
MIRT450719	hsa-miR-548w	PAR-CLIP	22100165
MIRT450718	hsa-miR-548y	PAR-CLIP	22100165
MIRT450717	hsa-miR-559	PAR-CLIP	22100165
MIRT450716	hsa-miR-100-3p	PAR-CLIP	22100165
MIRT450715	hsa-miR-3163	PAR-CLIP	22100165

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002089	Process	Lens morphogenesis in camera-type eye	IEA
GO:0005515	Function	Protein binding	IPI	19011627, 21982860, 22902367, 23758976, 25416956, 31515488, 32296183, 32814053, 33961781
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0005911	Component	Cell-cell junction	IEA
GO:0005911	Component	Cell-cell junction	ISS
GO:0005912	Component	Adherens junction	IBA
GO:0005912	Component	Adherens junction	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IBA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	ISS
GO:0007157	Process	Heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	IBA
GO:0007157	Process	Heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	IEA
GO:0007157	Process	Heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	ISS
GO:0009566	Process	Fertilization	IEA
GO:0016020	Component	Membrane	IEA
GO:0030424	Component	Axon	IEA
GO:0030425	Component	Dendrite	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	22902367
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0043296	Component	Apical junction complex	IBA
GO:0043296	Component	Apical junction complex	IEA
GO:0044291	Component	Cell-cell contact zone	IEA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0046718	Process	Symbiont entry into host cell	IEA
GO:0050839	Function	Cell adhesion molecule binding	IEA
GO:0050839	Function	Cell adhesion molecule binding	IPI	12438620
GO:0060042	Process	Retina morphogenesis in camera-type eye	IEA
GO:0061951	Process	Establishment of protein localization to plasma membrane	IEA
GO:0061951	Process	Establishment of protein localization to plasma membrane	ISS
GO:0070161	Component	Anchoring junction	IEA
GO:0090103	Process	Cochlea morphogenesis	IEA
GO:0090103	Process	Cochlea morphogenesis	ISS
GO:0098609	Process	Cell-cell adhesion	IEA
GO:0098631	Function	Cell adhesion mediator activity	IBA
GO:0098631	Function	Cell adhesion mediator activity	IEA
GO:0098631	Function	Cell adhesion mediator activity	ISS
GO:0098686	Component	Hippocampal mossy fiber to CA3 synapse	IEA
GO:0098839	Component	Postsynaptic density membrane	IEA
GO:0150052	Process	Regulation of postsynapse assembly	IEA
GO:1902414	Process	Protein localization to cell junction	IEA

Other IDs

• MIM: 607147
• HGNC: 17664
• e!Ensembl: ENSG00000177707

Protein

• UniProt ID: Q9NQS3
• Protein name: Nectin-3 (CDw113) (Nectin cell adhesion molecule 3) (Poliovirus receptor-related protein 3) (CD antigen CD113)
• Protein function: Cell adhesion molecule that promotes cell-cell adhesion through heterophilic trans-interactions with nectins-like or other nectins, such as trans-interaction with NECTIN2 at Sertoli-spermatid junctions (PubMed:16216929). Trans-interaction with P
• PDB: 4FOM
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07686	V-set	61 → 167	Immunoglobulin V-set domain	Domain
  PF08205	C2-set_2	173 → 257	CD80-like C2-set immunoglobulin domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Predominantly expressed in testis and placenta as well as in many cell lines, including epithelial cell lines. {ECO:0000269|PubMed:11024295}.
• Sequence:

  MARTLRPSPLCPGGGKAQLSSASLLGAGLLLQPPTPPPLLLLLFPLLLFSRLCGALAGPI
  IVEPHVTAVWGKNVSLKCLIEVNETITQISWEKIHGKSSQTVAVHHPQYGFSVQGEYQGR
  VLFKNYSLNDATITLHNIGFSDSGKYICKAVTFPLGNAQSSTTVTVLVEPTVSLIKGPDS
  LIDGGNETVAAICIAATGKPVAHIDWEGDLGEMESTTTSFPNETATIISQYKLFPTRFAR
  GRRITCVVKHPALEKDIRYSFILDIQYAPEVSVTGYDGNWFVGRKGVNLKCNADANPPPF
  KSVWSRLDGQWPDGLLASDNTLHFVHPLTFNYSGVYICKVTNSLGQRSDQKVIYISDPPT
  TTTLQPTIQWHPSTADIEDLATEPKKLPFPLSTLATIKDDTIATIIASVVGGALFIVLVS
  VLAGIFCYRRRRTFRGDYFAKNYIPPSDMQKESQIDVLQQDELDSYPDSVKKENKNPVNN
  LIRKDYLEEPEKTQWNNVENLNRFERPMDYYEDLKMGMKFVSDEHYDENEDDLVSHVDGS
  VISRREWYV

• Sequence length: 549

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
CONGENITAL CATARACT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental cataract	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NECTIN3-related disorder	Benign; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TERATOZOOSPERMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	30469078		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	25690753, 30469078		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	24386110		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24386110, 37643511	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	30469078		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	28872640		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	26177744	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37958883	Inhibit	★☆☆☆☆ Found in Text Mining only
Congenital cataract	Congenital Cataract	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometriosis	Endometriosis	BEFREE	22926846		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	18084611	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24386110		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	30469078		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	25690753		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30469078		★☆☆☆☆ Found in Text Mining only
Memory dysfunction	Memory Disorders	BEFREE	31066147		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	33038291	Associate	★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 1	Orofacial cleft	Pubtator	26868259	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	30469078		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	30469078	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	25690753		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	25690753, 30469078	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	37244912	Associate	★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	23704923, 24498342		★☆☆☆☆ Found in Text Mining only
Teratozoospermia	Teratozoospermia	CTD_human_DG	28689229		★★☆☆☆ Found in Text Mining + Unknown/Other Associations