EDA2R ectodysplasin A2 receptor [Homo sapiens (human)] - Gene

Summary

Official Symbol: EDA2Rprovided by HGNC
Official Full Name: ectodysplasin A2 receptorprovided by HGNC
Primary source: HGNC:HGNC:17756
See related: Ensembl:ENSG00000131080 MIM:300276; AllianceGenome:HGNC:17756
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: XEDAR; EDAA2R; EDA-A2R; TNFRSF27
Summary: The protein encoded by this gene is a type III transmembrane protein of the TNFR (tumor necrosis factor receptor) superfamily, and contains cysteine-rich repeats and a single transmembrane domain. This protein binds to the EDA-A2 isoform of ectodysplasin, which plays an important role in maintenance of hair and teeth. Alternatively spliced transcript variants encodes distinct protein isoforms. [provided by RefSeq, Apr 2016]
Expression: Broad expression in thyroid (RPKM 3.4), ovary (RPKM 3.3) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xq12

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (66595637..66639269, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (65023365..65067011, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (65815479..65859111, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

Expression of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) Candidate Genes EDA2R, PCDH9, and TRAF7 in Normal Human Kidney Development and CAKUT.
Title: Expression of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) Candidate Genes EDA2R, PCDH9, and TRAF7 in Normal Human Kidney Development and CAKUT.
Ectodysplasin A2 receptor-NF-kappaB-inducing kinase axis: a new player in muscle wasting to cancer cachexia.
Title: Ectodysplasin A2 receptor-NF-κB-inducing kinase axis: a new player in muscle wasting to cancer cachexia.
EDA2R-NIK signalling promotes muscle atrophy linked to cancer cachexia.
Title: EDA2R-NIK signalling promotes muscle atrophy linked to cancer cachexia.
Tumor Suppressor Gene XEDAR Promotes Differentiation and Suppresses Proliferation and Migration of Gastric Cancer Cells Through Upregulating the RELA/LXRalpha Axis and Deactivating the Wnt/beta-Catenin Pathway.
Title: Tumor Suppressor Gene XEDAR Promotes Differentiation and Suppresses Proliferation and Migration of Gastric Cancer Cells Through Upregulating the RELA/LXRα Axis and Deactivating the Wnt/β-Catenin Pathway.
Ectodysplasin-A2 induces dickkopf 1 expression in human balding dermal papilla cells overexpressing the ectodysplasin A2 receptor.
Title: Ectodysplasin-A2 induces dickkopf 1 expression in human balding dermal papilla cells overexpressing the ectodysplasin A2 receptor.
EDA2R mediates podocyte injury in high glucose milieu.
Title: EDA2R mediates podocyte injury in high glucose milieu.
Expression of EDA2R in human hair follicles.EDA-A2/EDA2R signaling could inhibit hair growth.
Title: Ectodysplasin-A2 induces apoptosis in cultured human hair follicle cells and promotes regression of hair follicles in mice.
The upregulation of SPOCK2-encoded Testican2 proteoglycan and of ectodysplasin (EDA) protein was coupled with a down-regulation of EDA2 receptor (EDA2R).
Title: Studies on sporadic non-syndromic thoracic aortic aneurysms: II. Alterations of extra-cellular matrix components and focal adhesion proteins.
We found evidence for AR but not EDA2R as the candidate gene at the androgenetic alopecia risk locus on chromosome X.
Title: Differential Expression between Human Dermal Papilla Cells from Balding and Non-Balding Scalps Reveals New Candidate Genes for Androgenetic Alopecia.
EDA-A2 and its receptor XEDAR are overexpressed in epithelial cells of salivary glands in Sjogren's syndrome patients, in comparison with healthy individuals. The EDA-A2/XEDAR system in these cells is involved in the induction of apoptosis via CASP3 activation.
Title: X-linked ectodermal dysplasia receptor (XEDAR) gene silencing prevents caspase-3-mediated apoptosis in Sjögren's syndrome.

Submit: New GeneRIF Correction See all GeneRIFs (23)

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

EBI GWAS Catalog

Description
Susceptibility variants on chromosome 7p21.1 suggest HDAC9 as a new candidate gene for male-pattern baldness. EBI GWAS Catalog EBI GWAS CatalogPubMed

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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Markers

G64108 (e-PCR)
- UniSTS:146702

DXS7054 (e-PCR)
- UniSTS:3893

SHGC-148317 (e-PCR)
- UniSTS:176318

EDA2R (e-PCR)
- UniSTS:506602

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables transmembrane signaling receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables tumor necrosis factor receptor activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in cytokine-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in ectodermal cell differentiation	IC Inferred by Curator more info	PubMed
involved_in epidermis development	NAS Non-traceable Author Statement more info	PubMed
involved_in intrinsic apoptotic signaling pathway by p53 class mediator	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of JNK cascade	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of JNK cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of canonical NF-kappaB signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of canonical NF-kappaB signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in tumor necrosis factor-mediated signaling pathway	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in membrane	IC Inferred by Curator more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: tumor necrosis factor receptor superfamily member 27

Names: EDA-A2 receptor; X-linked EDA receptor; X-linked ectodysplasin-A2 receptor; tumor necrosis factor receptor superfamily member XEDAR

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_013271.3 RefSeqGene

Range

5191..48632

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001199687.3 → NP_001186616.2 tumor necrosis factor receptor superfamily member 27 isoform 1

Status: REVIEWED

Source sequence(s)

AL353136

Consensus CDS

CCDS14386.1

UniProtKB/Swiss-Prot

Q5VYX9, Q5VYY0, Q6UWM2, Q8IZA6, Q9HAV5

UniProtKB/TrEMBL

B2RBZ9

Related

ENSP00000415242.3, ENST00000451436.6

Conserved Domains (1) summary

cd15838
Location:3 → 118

TNFRSF27; Tumor necrosis factor receptor superfamily member 27 (TNFRSF27), also known as ectodysplasin A2 receptor (EDA2R) or X-linked ectodermal dysplasia receptor (XEDAR)
NM_001242310.1 → NP_001229239.1 tumor necrosis factor receptor superfamily member 27 isoform 2

Status: REVIEWED

Source sequence(s)

AL353136, AY152724

Consensus CDS

CCDS56603.1

UniProtKB/TrEMBL

B2RBZ9

Related

ENSP00000379365.2, ENST00000396050.5

Conserved Domains (1) summary

cd15838
Location:3 → 118

TNFRSF27; Tumor necrosis factor receptor superfamily member 27 (TNFRSF27), also known as ectodysplasin A2 receptor (EDA2R) or X-linked ectodermal dysplasia receptor (XEDAR)
NM_001324199.2 → NP_001311128.2 tumor necrosis factor receptor superfamily member 27 isoform 3

Status: REVIEWED

Source sequence(s)

AL353136

UniProtKB/TrEMBL

B4DQY6
NM_001324201.2 → NP_001311130.2 tumor necrosis factor receptor superfamily member 27 isoform 4

Status: REVIEWED

Source sequence(s)

AL353136
NM_001324202.2 → NP_001311131.2 tumor necrosis factor receptor superfamily member 27 isoform 5

Status: REVIEWED

Source sequence(s)

AL353136
NM_001324204.2 → NP_001311133.2 tumor necrosis factor receptor superfamily member 27 isoform 6

Status: REVIEWED

Source sequence(s)

AL353136
NM_001324205.2 → NP_001311134.2 tumor necrosis factor receptor superfamily member 27 isoform 7

Status: REVIEWED

Source sequence(s)

AL353136
NM_001324206.2 → NP_001311135.2 tumor necrosis factor receptor superfamily member 27 isoform 8

Status: REVIEWED

Source sequence(s)

AL353136

UniProtKB/TrEMBL

B2RBZ9

Conserved Domains (1) summary

cd15838
Location:3 → 118

TNFRSF27; Tumor necrosis factor receptor superfamily member 27 (TNFRSF27), also known as ectodysplasin A2 receptor (EDA2R) or X-linked ectodermal dysplasia receptor (XEDAR)
NM_021783.5 → NP_068555.2 tumor necrosis factor receptor superfamily member 27 isoform 1

Status: REVIEWED

Source sequence(s)

AL353136

Consensus CDS

CCDS14386.1

UniProtKB/Swiss-Prot

Q5VYX9, Q5VYY0, Q6UWM2, Q8IZA6, Q9HAV5

UniProtKB/TrEMBL

B2RBZ9

Related

ENSP00000363851.3, ENST00000374719.8

Conserved Domains (1) summary

cd15838
Location:3 → 118

TNFRSF27; Tumor necrosis factor receptor superfamily member 27 (TNFRSF27), also known as ectodysplasin A2 receptor (EDA2R) or X-linked ectodermal dysplasia receptor (XEDAR)

RNA

NR_136726.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL353136
NR_136727.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL353136

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000023.11 Reference GRCh38.p14 Primary Assembly

Range

66595637..66639269 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047442328.1 → XP_047298284.1 tumor necrosis factor receptor superfamily member 27 isoform X31
XM_047442327.1 → XP_047298283.1 tumor necrosis factor receptor superfamily member 27 isoform X30
XM_047442323.1 → XP_047298279.1 tumor necrosis factor receptor superfamily member 27 isoform X26
XM_047442321.1 → XP_047298277.1 tumor necrosis factor receptor superfamily member 27 isoform X24
XM_047442319.1 → XP_047298275.1 tumor necrosis factor receptor superfamily member 27 isoform X22
XM_047442317.1 → XP_047298273.1 tumor necrosis factor receptor superfamily member 27 isoform X20
XM_047442324.1 → XP_047298280.1 tumor necrosis factor receptor superfamily member 27 isoform X27
XM_047442312.1 → XP_047298268.1 tumor necrosis factor receptor superfamily member 27 isoform X16
XM_047442310.1 → XP_047298266.1 tumor necrosis factor receptor superfamily member 27 isoform X15
XM_047442315.1 → XP_047298271.1 tumor necrosis factor receptor superfamily member 27 isoform X18
XM_047442305.1 → XP_047298261.1 tumor necrosis factor receptor superfamily member 27 isoform X10
XM_047442303.1 → XP_047298259.1 tumor necrosis factor receptor superfamily member 27 isoform X9
XM_047442301.1 → XP_047298257.1 tumor necrosis factor receptor superfamily member 27 isoform X7
XM_047442318.1 → XP_047298274.1 tumor necrosis factor receptor superfamily member 27 isoform X21
XM_047442307.1 → XP_047298263.1 tumor necrosis factor receptor superfamily member 27 isoform X12
XM_047442306.1 → XP_047298262.1 tumor necrosis factor receptor superfamily member 27 isoform X11
XM_047442309.1 → XP_047298265.1 tumor necrosis factor receptor superfamily member 27 isoform X14
XM_047442302.1 → XP_047298258.1 tumor necrosis factor receptor superfamily member 27 isoform X8
XM_047442300.1 → XP_047298256.1 tumor necrosis factor receptor superfamily member 27 isoform X6
XM_017029708.2 → XP_016885197.1 tumor necrosis factor receptor superfamily member 27 isoform X32
XM_047442326.1 → XP_047298282.1 tumor necrosis factor receptor superfamily member 27 isoform X29
XM_011531006.3 → XP_011529308.1 tumor necrosis factor receptor superfamily member 27 isoform X27

UniProtKB/TrEMBL

B4DJW5

Conserved Domains (2) summary

cd00185
Location:44 → 83

TNFRSF; CRD2 [structural motif]

cl22855
Location:3 → 118

TNFRSF; Tumor necrosis factor receptor superfamily (TNFRSF)
XM_047442313.1 → XP_047298269.1 tumor necrosis factor receptor superfamily member 27 isoform X16
XM_047442311.1 → XP_047298267.1 tumor necrosis factor receptor superfamily member 27 isoform X15
XM_017029706.2 → XP_016885195.1 tumor necrosis factor receptor superfamily member 27 isoform X18
XM_017029704.2 → XP_016885193.1 tumor necrosis factor receptor superfamily member 27 isoform X10
XM_047442304.1 → XP_047298260.1 tumor necrosis factor receptor superfamily member 27 isoform X9
XM_011531002.2 → XP_011529304.1 tumor necrosis factor receptor superfamily member 27 isoform X7

Conserved Domains (1) summary

cd15838
Location:3 → 118

TNFRSF27; Tumor necrosis factor receptor superfamily member 27 (TNFRSF27), also known as ectodysplasin A2 receptor (EDA2R) or X-linked ectodermal dysplasia receptor (XEDAR)
XM_047442322.1 → XP_047298278.1 tumor necrosis factor receptor superfamily member 27 isoform X25
XM_047442320.1 → XP_047298276.1 tumor necrosis factor receptor superfamily member 27 isoform X23
XM_047442308.1 → XP_047298264.1 tumor necrosis factor receptor superfamily member 27 isoform X13
XM_047442299.1 → XP_047298255.1 tumor necrosis factor receptor superfamily member 27 isoform X5
XM_011531001.2 → XP_011529303.1 tumor necrosis factor receptor superfamily member 27 isoform X2

See identical proteins and their annotated locations for XP_011529303.1

UniProtKB/TrEMBL

B2RBZ9

Related

ENSP00000253392.5, ENST00000253392.5

Conserved Domains (1) summary

cd15838
Location:3 → 118

TNFRSF27; Tumor necrosis factor receptor superfamily member 27 (TNFRSF27), also known as ectodysplasin A2 receptor (EDA2R) or X-linked ectodermal dysplasia receptor (XEDAR)
XM_047442298.1 → XP_047298254.1 tumor necrosis factor receptor superfamily member 27 isoform X4
XM_047442297.1 → XP_047298253.1 tumor necrosis factor receptor superfamily member 27 isoform X3
XM_047442294.1 → XP_047298250.1 tumor necrosis factor receptor superfamily member 27 isoform X1
XM_047442316.1 → XP_047298272.1 tumor necrosis factor receptor superfamily member 27 isoform X19
XM_017029705.2 → XP_016885194.1 tumor necrosis factor receptor superfamily member 27 isoform X13
XM_047442296.1 → XP_047298252.1 tumor necrosis factor receptor superfamily member 27 isoform X2
XM_047442295.1 → XP_047298251.1 tumor necrosis factor receptor superfamily member 27 isoform X1
XM_047442314.1 → XP_047298270.1 tumor necrosis factor receptor superfamily member 27 isoform X17
XM_047442325.1 → XP_047298281.1 tumor necrosis factor receptor superfamily member 27 isoform X28

Alternate T2T-CHM13v2.0

Genomic

NC_060947.1 Alternate T2T-CHM13v2.0

Range

65023365..65067011 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054327517.1 → XP_054183492.1 tumor necrosis factor receptor superfamily member 27 isoform X31
XM_054327516.1 → XP_054183491.1 tumor necrosis factor receptor superfamily member 27 isoform X30
XM_054327511.1 → XP_054183486.1 tumor necrosis factor receptor superfamily member 27 isoform X26
XM_054327509.1 → XP_054183484.1 tumor necrosis factor receptor superfamily member 27 isoform X24
XM_054327507.1 → XP_054183482.1 tumor necrosis factor receptor superfamily member 27 isoform X22
XM_054327505.1 → XP_054183480.1 tumor necrosis factor receptor superfamily member 27 isoform X20
XM_054327512.1 → XP_054183487.1 tumor necrosis factor receptor superfamily member 27 isoform X27
XM_054327499.1 → XP_054183474.1 tumor necrosis factor receptor superfamily member 27 isoform X16
XM_054327497.1 → XP_054183472.1 tumor necrosis factor receptor superfamily member 27 isoform X15
XM_054327502.1 → XP_054183477.1 tumor necrosis factor receptor superfamily member 27 isoform X18
XM_054327490.1 → XP_054183465.1 tumor necrosis factor receptor superfamily member 27 isoform X10
XM_054327488.1 → XP_054183463.1 tumor necrosis factor receptor superfamily member 27 isoform X9
XM_054327486.1 → XP_054183461.1 tumor necrosis factor receptor superfamily member 27 isoform X7
XM_054327506.1 → XP_054183481.1 tumor necrosis factor receptor superfamily member 27 isoform X21
XM_054327493.1 → XP_054183468.1 tumor necrosis factor receptor superfamily member 27 isoform X12
XM_054327492.1 → XP_054183467.1 tumor necrosis factor receptor superfamily member 27 isoform X11
XM_054327496.1 → XP_054183471.1 tumor necrosis factor receptor superfamily member 27 isoform X14
XM_054327487.1 → XP_054183462.1 tumor necrosis factor receptor superfamily member 27 isoform X8
XM_054327484.1 → XP_054183459.1 tumor necrosis factor receptor superfamily member 27 isoform X6
XM_054327518.1 → XP_054183493.1 tumor necrosis factor receptor superfamily member 27 isoform X32
XM_054327515.1 → XP_054183490.1 tumor necrosis factor receptor superfamily member 27 isoform X29
XM_054327513.1 → XP_054183488.1 tumor necrosis factor receptor superfamily member 27 isoform X27
XM_054327500.1 → XP_054183475.1 tumor necrosis factor receptor superfamily member 27 isoform X16
XM_054327498.1 → XP_054183473.1 tumor necrosis factor receptor superfamily member 27 isoform X15
XM_054327503.1 → XP_054183478.1 tumor necrosis factor receptor superfamily member 27 isoform X18
XM_054327491.1 → XP_054183466.1 tumor necrosis factor receptor superfamily member 27 isoform X10
XM_054327489.1 → XP_054183464.1 tumor necrosis factor receptor superfamily member 27 isoform X9
XM_054327485.1 → XP_054183460.1 tumor necrosis factor receptor superfamily member 27 isoform X7
XM_054327510.1 → XP_054183485.1 tumor necrosis factor receptor superfamily member 27 isoform X25
XM_054327508.1 → XP_054183483.1 tumor necrosis factor receptor superfamily member 27 isoform X23
XM_054327494.1 → XP_054183469.1 tumor necrosis factor receptor superfamily member 27 isoform X13
XM_054327483.1 → XP_054183458.1 tumor necrosis factor receptor superfamily member 27 isoform X5
XM_054327480.1 → XP_054183455.1 tumor necrosis factor receptor superfamily member 27 isoform X2
XM_054327482.1 → XP_054183457.1 tumor necrosis factor receptor superfamily member 27 isoform X4
XM_054327481.1 → XP_054183456.1 tumor necrosis factor receptor superfamily member 27 isoform X3
XM_054327477.1 → XP_054183452.1 tumor necrosis factor receptor superfamily member 27 isoform X1
XM_054327504.1 → XP_054183479.1 tumor necrosis factor receptor superfamily member 27 isoform X19
XM_054327495.1 → XP_054183470.1 tumor necrosis factor receptor superfamily member 27 isoform X13
XM_054327479.1 → XP_054183454.1 tumor necrosis factor receptor superfamily member 27 isoform X2
XM_054327478.1 → XP_054183453.1 tumor necrosis factor receptor superfamily member 27 isoform X1
XM_054327501.1 → XP_054183476.1 tumor necrosis factor receptor superfamily member 27 isoform X17
XM_054327514.1 → XP_054183489.1 tumor necrosis factor receptor superfamily member 27 isoform X28

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001199688.1: Suppressed sequence

Description

NM_001199688.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
NM_001199689.1: Suppressed sequence

Description

NM_001199689.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.