NECTIN4 nectin cell adhesion molecule 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NECTIN4provided by HGNC
Official Full Name: nectin cell adhesion molecule 4provided by HGNC
Primary source: HGNC:HGNC:19688
See related: Ensembl:ENSG00000143217 MIM:609607; AllianceGenome:HGNC:19688
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: LNIR; PRR4; EDSS1; PVRL4; nectin-4
Summary: This gene encodes a member of the nectin family. The encoded protein contains two immunoglobulin-like (Ig-like) C2-type domains and one Ig-like V-type domain. It is involved in cell adhesion through trans-homophilic and -heterophilic interactions. It is a single-pass type I membrane protein. The soluble form is produced by proteolytic cleavage at the cell surface by the metalloproteinase ADAM17/TACE. The secreted form is found in both breast tumor cell lines and breast tumor patients. Mutations in this gene are the cause of ectodermal dysplasia-syndactyly syndrome type 1, an autosomal recessive disorder. Alternatively spliced transcript variants have been found but the full-length nature of the variant has not been determined.[provided by RefSeq, Jan 2011]
Expression: Biased expression in skin (RPKM 30.6), esophagus (RPKM 23.7) and 7 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q23.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (161070998..161089558, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (160208489..160227037, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (161040788..161059348, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Associations of TACSTD2/TROP2 and NECTIN-4/NECTIN-4 with molecular subtypes, PD-L1 expression, and FGFR3 mutational status in two advanced urothelial bladder cancer cohorts.
Title: Associations of TACSTD2/TROP2 and NECTIN-4/NECTIN-4 with molecular subtypes, PD-L1 expression, and FGFR3 mutational status in two advanced urothelial bladder cancer cohorts.
Expression of PVRL4, a molecular target for cancer treatment, is transcriptionally regulated by FOS.
Title: Expression of PVRL4, a molecular target for cancer treatment, is transcriptionally regulated by FOS.
Nectin-4 regulates cellular senescence-associated enlargement of cell size.
Title: Nectin-4 regulates cellular senescence-associated enlargement of cell size.
A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family.
Title: A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family.
A novel homozygous nonsense mutation in NECTIN4 gene in a Pakistani family with ectodermal dysplasia syndactyly syndrome 1.
Title: A novel homozygous nonsense mutation in NECTIN4 gene in a Pakistani family with ectodermal dysplasia syndactyly syndrome 1.
Trop-2 and Nectin-4 immunohistochemical expression in metastatic colorectal cancer: searching for the right population for drugs' development.
Title: Trop-2 and Nectin-4 immunohistochemical expression in metastatic colorectal cancer: searching for the right population for drugs' development.
Immunohistochemical Analysis of HER2, EGFR, and Nectin-4 Expression in Upper Urinary Tract Urothelial Carcinoma.
Title: Immunohistochemical Analysis of HER2, EGFR, and Nectin-4 Expression in Upper Urinary Tract Urothelial Carcinoma.
Nectin4 is a potential therapeutic target for asthma.
Title: Nectin4 is a potential therapeutic target for asthma.
Nectin-4 is widely expressed in head and neck squamous cell carcinoma.
Title: Nectin-4 is widely expressed in head and neck squamous cell carcinoma.
Tumor expression of Nectin-1-4 and its clinical implication in muscle invasive bladder cancer: An intra-patient variability of Nectin-4 expression.
Title: Tumor expression of Nectin-1-4 and its clinical implication in muscle invasive bladder cancer: An intra-patient variability of Nectin-4 expression.

Submit: New GeneRIF Correction See all GeneRIFs (68)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Ectodermal dysplasia-syndactyly syndrome 1 MedGen: C3150807 OMIM: 613573 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables virus receptor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	IBA Inferred from Biological aspect of Ancestor more info
involved_in homophilic cell adhesion via plasma membrane adhesion molecules	IBA Inferred from Biological aspect of Ancestor more info
involved_in symbiont entry into host cell	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in adherens junction	IBA Inferred from Biological aspect of Ancestor more info
located_in adherens junction	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: nectin-4

Names: Ig superfamily receptor LNIR; nectin 4; poliovirus receptor-related 4; poliovirus receptor-related protein 4

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_028109.1 RefSeqGene

Range

5038..23598

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_030916.3 → NP_112178.2 nectin-4 precursor

See identical proteins and their annotated locations for NP_112178.2

Status: REVIEWED

Source sequence(s)

BC010423, BC013892, CF529301, DB223835

Consensus CDS

CCDS1216.1

UniProtKB/Swiss-Prot

B4DQW3, Q96K15, Q96NY8

UniProtKB/TrEMBL

K4PZ75

Related

ENSP00000356991.3, ENST00000368012.4

Conserved Domains (3) summary

cd00096
Location:266 → 329

Ig; Immunoglobulin domain

cd05888
Location:38 → 146

IgV_1_Nectin-4_like; First immunoglobulin (Ig) domain of nectin-4, and similar domains

cd07704
Location:149 → 242

IgC1_2_Nectin-3-4_like; Second immunoglobulin (Ig) domain of nectin-3 and nectin-4 (poliovirus receptor related protein 4), and similar domains; member of the C1-set of Ig superfamily (IgSF) domains

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

161070998..161089558 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005245508.4 → XP_005245565.1 nectin-4 isoform X3

See identical proteins and their annotated locations for XP_005245565.1

Conserved Domains (3) summary

cd05888
Location:46 → 146

Ig1_Nectin-4_like; Frst immunoglobulin (Ig) domain of nectin-4 (also known as poliovirus receptor related protein 4, or as LNIR receptor) and similar proteins

cd00096
Location:266 → 329

Ig; Immunoglobulin domain

cd07704
Location:149 → 242

Ig2_Nectin-3-4_like; Second immunoglobulin (Ig) domain of nectin-3 (also known as poliovirus receptor related protein 3), nectin-4 (poliovirus receptor related protein 4) and similar proteins
XM_047431288.1 → XP_047287244.1 nectin-4 isoform X4
XM_011510022.3 → XP_011508324.1 nectin-4 isoform X2

Conserved Domains (4) summary

cd05888
Location:46 → 146

Ig1_Nectin-4_like; Frst immunoglobulin (Ig) domain of nectin-4 (also known as poliovirus receptor related protein 4, or as LNIR receptor) and similar proteins

cd07704
Location:149 → 242

Ig2_Nectin-3-4_like; Second immunoglobulin (Ig) domain of nectin-3 (also known as poliovirus receptor related protein 3), nectin-4 (poliovirus receptor related protein 4) and similar proteins

smart00408
Location:268 → 320

IGc2; Immunoglobulin C-2 Type

smart00410
Location:259 → 332

IG_like; Immunoglobulin like
XM_011510021.3 → XP_011508323.1 nectin-4 isoform X1

See identical proteins and their annotated locations for XP_011508323.1

Conserved Domains (4) summary

cd05888
Location:46 → 146

Ig1_Nectin-4_like; Frst immunoglobulin (Ig) domain of nectin-4 (also known as poliovirus receptor related protein 4, or as LNIR receptor) and similar proteins

cd07704
Location:149 → 242

Ig2_Nectin-3-4_like; Second immunoglobulin (Ig) domain of nectin-3 (also known as poliovirus receptor related protein 3), nectin-4 (poliovirus receptor related protein 4) and similar proteins

smart00408
Location:268 → 320

IGc2; Immunoglobulin C-2 Type

smart00410
Location:259 → 332

IG_like; Immunoglobulin like