NDRG4 NDRG family member 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NDRG4provided by HGNC
Official Full Name: NDRG family member 4provided by HGNC
Primary source: HGNC:HGNC:14466
See related: Ensembl:ENSG00000103034 MIM:614463; AllianceGenome:HGNC:14466
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: BDM1; SMAP8; SMAP-8
Summary: This gene is a member of the N-myc downregulated gene family which belongs to the alpha/beta hydrolase superfamily. The protein encoded by this gene is a cytoplasmic protein that is required for cell cycle progression and survival in primary astrocytes and may be involved in the regulation of mitogenic signalling in vascular smooth muscles cells. Alternative splicing results in multiple transcripts encoding different isoforms.[provided by RefSeq, Jun 2011]
Expression: Biased expression in brain (RPKM 109.2), heart (RPKM 62.3) and 4 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 16q21

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (58463715..58515387)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (64258952..64310470)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (58497619..58547523)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

miR-23a-3p promotes the development of colon cancer by inhibiting the expression of NDRG4.
Title: miR-23a-3p promotes the development of colon cancer by inhibiting the expression of NDRG4.
Errate: Identification of NDRG Family Member 4 (NDRG4) and CDC28 Protein Kinase Regulatory Subunit 2 (CKS2) as Key Prognostic Genes in Adrenocortical Carcinoma by Transcriptomic Analysis.
Title: Errate: Identification of NDRG Family Member 4 (NDRG4) and CDC28 Protein Kinase Regulatory Subunit 2 (CKS2) as Key Prognostic Genes in Adrenocortical Carcinoma by Transcriptomic Analysis.
Highly sensitive fecal DNA testing of NDRG4 12b methylation is a promising marker for detection of colorectal precancerosis.
Title: Highly sensitive fecal DNA testing of NDRG4 12b methylation is a promising marker for detection of colorectal precancerosis.
A loss-of-function mutation p.T256M in NDRG4 is implicated in the pathogenesis of pulmonary atresia with ventricular septal defect (PA/VSD) and tetralogy of Fallot (TOF).
Title: A loss-of-function mutation p.T256M in NDRG4 is implicated in the pathogenesis of pulmonary atresia with ventricular septal defect (PA/VSD) and tetralogy of Fallot (TOF).
MiR-433 Regulates Myocardial Ischemia Reperfusion Injury by Targeting NDRG4 Via the PI3K/Akt Pathway.
Title: MiR-433 Regulates Myocardial Ischemia Reperfusion Injury by Targeting NDRG4 Via the PI3K/Akt Pathway.
Hypermethylation-mediated silencing of NDRG4 promotes pancreatic ductal adenocarcinoma by regulating mitochondrial function.
Title: Hypermethylation-mediated silencing of NDRG4 promotes pancreatic ductal adenocarcinoma by regulating mitochondrial function.
Loss of enteric neuronal Ndrg4 promotes colorectal cancer via increased release of Nid1 and Fbln2.
Title: Loss of enteric neuronal Ndrg4 promotes colorectal cancer via increased release of Nid1 and Fbln2.
TFPI2 and NDRG4 gene promoter methylation analysis in peripheral blood mononuclear cells are novel epigenetic noninvasive biomarkers for colorectal cancer diagnosis.
Title: TFPI2 and NDRG4 gene promoter methylation analysis in peripheral blood mononuclear cells are novel epigenetic noninvasive biomarkers for colorectal cancer diagnosis.
Identification of NDRG Family Member 4 (NDRG4) and CDC28 Protein Kinase Regulatory Subunit 2 (CKS2) as Key Prognostic Genes in Adrenocortical Carcinoma by Transcriptomic Analysis.
Title: Identification of NDRG Family Member 4 (NDRG4) and CDC28 Protein Kinase Regulatory Subunit 2 (CKS2) as Key Prognostic Genes in Adrenocortical Carcinoma by Transcriptomic Analysis.
NDRG4 Alleviates Abeta1-40 Induction of SH-SY5Y Cell Injury via Activation of BDNF-Inducing Signalling Pathways.
Title: NDRG4 Alleviates Aβ1-40 Induction of SH-SY5Y Cell Injury via Activation of BDNF-Inducing Signalling Pathways.

Submit: New GeneRIF Correction See all GeneRIFs (32)

Phenotypes

Go to the top of the page Help

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
A common variant in SLC8A1 is associated with the duration of the electrocardiographic QT interval. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variants at ten loci influence QT interval duration in the QTGEN Study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variants at ten loci modulate the QT interval duration in the QTSCD Study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Several common variants modulate heart rate, PR interval and QRS duration. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

A002O31 (e-PCR)
- UniSTS:17446

RH66375 (e-PCR)
- UniSTS:9348

UniSTS:77196 (e-PCR)
- UniSTS:77196

HSC20H112 (e-PCR)
- UniSTS:81316

WI-14098 (e-PCR)
- UniSTS:20914

D16S431E (e-PCR)
- UniSTS:147382

Clone Names

FLJ30586, FLJ42011, KIAA1180, MGC19632, DKFZp686I1615

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cardiac muscle cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell differentiation	NAS Non-traceable Author Statement more info	PubMed
involved_in cell migration involved in heart development	IEA Inferred from Electronic Annotation more info
involved_in embryonic heart tube development	ISS Inferred from Sequence or Structural Similarity more info
involved_in heart looping	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of platelet-derived growth factor receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of smooth muscle cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of smooth muscle cell proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of ERK1 and ERK2 cascade	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of ERK1 and ERK2 cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of ERK1 and ERK2 cascade	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of neuron projection development	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of endocytic recycling	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in vesicle docking	IEA Inferred from Electronic Annotation more info
involved_in visual learning	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cell projection membrane	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	NAS Non-traceable Author Statement more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in endoplasmic reticulum membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	IDA Inferred from Direct Assay more info

General protein information

Go to the top of the page Help

Preferred Names: protein NDRG4

Names: N-myc downstream-regulated gene 4 protein; brain development-related molecule 1; smooth muscle-associated protein 8; vascular smooth muscle cell-associated protein 8

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_041803.1 RefSeqGene

Range

41499..54975

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001130487.2 → NP_001123959.1 protein NDRG4 isoform 2

See identical proteins and their annotated locations for NP_001123959.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) encodes isoform 2.

Source sequence(s)

AC009118, AK126574, BC011795, DB498690

Consensus CDS

CCDS45500.1

UniProtKB/TrEMBL

H3BQJ4

Related

ENSP00000377823.4, ENST00000394282.8

Conserved Domains (1) summary

pfam03096
Location:60 → 342

Ndr; Ndr family
NM_001242833.2 → NP_001229762.1 protein NDRG4 isoform 4

See identical proteins and their annotated locations for NP_001229762.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) has multiple differences at the 5' end which result in the use of a distinct translation initiation codon, compared to variant 2. The encoded protein (isoform 4) has a shorter and distinct N-terminus, compared to isoform 2.

Source sequence(s)

AK299949, BC011795

Consensus CDS

CCDS55999.1

UniProtKB/TrEMBL

H3BQJ4

Related

ENSP00000349193.4, ENST00000356752.8

Conserved Domains (1) summary

pfam03096
Location:38 → 320

Ndr; Ndr family
NM_001242834.2 → NP_001229763.1 protein NDRG4 isoform 5

See identical proteins and their annotated locations for NP_001229763.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) has multiple differences at the 5' end which result in the use of a distinct translation initiation codon, compared to variant 2. The encoded protein (isoform 5) has a shorter and distinct N-terminus, compared to isoform 2.

Source sequence(s)

AK296415, BC011795

Consensus CDS

CCDS58465.1

UniProtKB/TrEMBL

H3BQJ4

Related

ENSP00000456338.1, ENST00000568640.5

Conserved Domains (1) summary

pfam03096
Location:26 → 308

Ndr; Ndr family
NM_001242835.2 → NP_001229764.1 protein NDRG4 isoform 6

See identical proteins and their annotated locations for NP_001229764.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) has multiple differences at the 5' end which result in the use of a distinct translation initiation codon and an additional exon in the 3' coding region, compared to variant 2. The encoded protein (isoform 6; also known as NDRG4-Bvar) has a shorter and distinct N-terminus and longer C-terminus, compared to isoform 2.

Source sequence(s)

AB044945, BC011795

Consensus CDS

CCDS58466.1

UniProtKB/Swiss-Prot

B3KNU2, B4DK66, B4DSW5, H7C600, Q6ZNE7, Q6ZTI7, Q96PL9, Q9GZM1, Q9GZN3, Q9GZX0, Q9ULP0

UniProtKB/TrEMBL

A0A0S2Z5R7, H3BQJ4

Related

ENSP00000457659.1, ENST00000570248.6

Conserved Domains (1) summary

pfam03096
Location:8 → 290

Ndr; Ndr family
NM_001242836.2 → NP_001229765.1 protein NDRG4 isoform 3

See identical proteins and their annotated locations for NP_001229765.1

Status: REVIEWED

Description

Transcript Variant: This variant (7) has multiple differences at the 5' end which result in the use of a distinct translation initiation codon, compared to variant 2. The encoded protein (isoform 3; also known as NDRG4-B) has a shorter and distinct N-terminus, compared to isoform 2.

Source sequence(s)

AK316089, BC011795

Consensus CDS

CCDS58467.1

UniProtKB/TrEMBL

A0A0S2Z5L7, H3BQJ4

Related

ENSP00000454410.1, ENST00000566192.5

Conserved Domains (1) summary

pfam03096
Location:8 → 290

Ndr; Ndr family
NM_001363869.2 → NP_001350798.1 protein NDRG4 isoform 7

Status: REVIEWED

Source sequence(s)

AC009118, KF456201

Consensus CDS

CCDS86532.1

UniProtKB/TrEMBL

B3KX54, B7Z9X4

Related

ENSP00000457119.1, ENST00000569923.5

Conserved Domains (1) summary

cl21494
Location:1 → 235

Abhydrolase; alpha/beta hydrolases
NM_001378332.1 → NP_001365261.1 protein NDRG4 isoform 8

Status: REVIEWED

Source sequence(s)

AC009118, KF456201

Conserved Domains (1) summary

pfam03096
Location:90 → 372

Ndr; Ndr family
NM_001378333.1 → NP_001365262.1 protein NDRG4 isoform 9

Status: REVIEWED

Source sequence(s)

AC009118, KF456201

Conserved Domains (1) summary

pfam03096
Location:78 → 360

Ndr; Ndr family
NM_001378334.1 → NP_001365263.1 protein NDRG4 isoform 10

Status: REVIEWED

Source sequence(s)

AC009118, KF456201

Conserved Domains (1) summary

pfam03096
Location:90 → 372

Ndr; Ndr family
NM_001378335.1 → NP_001365264.1 protein NDRG4 isoform 11

Status: REVIEWED

Source sequence(s)

AC009118, KF456201

Conserved Domains (1) summary

pfam03096
Location:78 → 360

Ndr; Ndr family
NM_001378336.1 → NP_001365265.1 protein NDRG4 isoform 12

Status: REVIEWED

Source sequence(s)

AC009118, KF456201

Conserved Domains (1) summary

pfam03096
Location:60 → 342

Ndr; Ndr family
NM_001378337.1 → NP_001365266.1 protein NDRG4 isoform 13

Status: REVIEWED

Source sequence(s)

AC009118, KF456201

Conserved Domains (1) summary

pfam03096
Location:71 → 353

Ndr; Ndr family
NM_001378338.1 → NP_001365267.1 protein NDRG4 isoform 14

Status: REVIEWED

Source sequence(s)

AC009118, KF456201

Conserved Domains (1) summary

pfam03096
Location:58 → 340

Ndr; Ndr family
NM_001378339.1 → NP_001365268.1 protein NDRG4 isoform 15

Status: REVIEWED

Source sequence(s)

AC009118, KF456201

Conserved Domains (1) summary

pfam03096
Location:70 → 352

Ndr; Ndr family
NM_001378340.1 → NP_001365269.1 protein NDRG4 isoform 15

Status: REVIEWED

Source sequence(s)

AC009118, KF456201

Conserved Domains (1) summary

pfam03096
Location:70 → 352

Ndr; Ndr family
NM_001378341.1 → NP_001365270.1 protein NDRG4 isoform 16

Status: REVIEWED

Source sequence(s)

AC009118, KF456201

UniProtKB/TrEMBL

H3BQJ4

Conserved Domains (1) summary

pfam03096
Location:53 → 335

Ndr; Ndr family
NM_001378342.1 → NP_001365271.1 protein NDRG4 isoform 17

Status: REVIEWED

Source sequence(s)

AC009118, KF456201

UniProtKB/TrEMBL

H3BQJ4

Conserved Domains (1) summary

pfam03096
Location:58 → 340

Ndr; Ndr family
NM_001378343.1 → NP_001365272.1 protein NDRG4 isoform 18

Status: REVIEWED

Source sequence(s)

AC009118, KF456201

UniProtKB/TrEMBL

H3BQJ4

Conserved Domains (1) summary

pfam03096
Location:53 → 335

Ndr; Ndr family
NM_001378344.1 → NP_001365273.1 protein NDRG4 isoform 19

Status: REVIEWED

Source sequence(s)

AC009118, KF456201

UniProtKB/TrEMBL

H3BQJ4

Conserved Domains (1) summary

pfam03096
Location:38 → 320

Ndr; Ndr family
NM_001378345.1 → NP_001365274.1 protein NDRG4 isoform 20

Status: REVIEWED

Source sequence(s)

AC009118, KF456201

UniProtKB/TrEMBL

H3BQJ4

Conserved Domains (1) summary

pfam03096
Location:40 → 322

Ndr; Ndr family
NM_001378346.1 → NP_001365275.1 protein NDRG4 isoform 1

Status: REVIEWED

Source sequence(s)

AC009118, KF456201

Consensus CDS

CCDS10797.1

UniProtKB/TrEMBL

H3BQJ4

Conserved Domains (1) summary

pfam03096
Location:40 → 322

Ndr; Ndr family
NM_001378347.1 → NP_001365276.1 protein NDRG4 isoform 21

Status: REVIEWED

Source sequence(s)

AC009118, KF456201

UniProtKB/TrEMBL

H3BQJ4

Conserved Domains (1) summary

pfam03096
Location:26 → 308

Ndr; Ndr family
NM_020465.4 → NP_065198.1 protein NDRG4 isoform 1

See identical proteins and their annotated locations for NP_065198.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) differs in the 5' UTR which results in the use of an in-frame downstream translation initiation codon, compared to variant 2. The encoded protein (isoform 1; also known as NDRG4-H) has a shorter N-terminus, compared to isoform 2. Variants 1 and 3 encode the same isoform.

Source sequence(s)

AC009118, BC011795, DA242460, KF456201

Consensus CDS

CCDS10797.1

UniProtKB/TrEMBL

H3BQJ4

Related

ENSP00000258187.5, ENST00000258187.9

Conserved Domains (1) summary

pfam03096
Location:40 → 322

Ndr; Ndr family
NM_022910.4 → NP_075061.1 protein NDRG4 isoform 1

See identical proteins and their annotated locations for NP_075061.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR which results in the use of an in-frame downstream translation initiation codon, compared to variant 2. The encoded protein (isoform 1; also known as NDRG4-H) has a shorter N-terminus, compared to isoform 2. Variants 1 and 3 encode the same isoform.

Source sequence(s)

AB044946, AC009118, BC011795, DA099057

Consensus CDS

CCDS10797.1

UniProtKB/TrEMBL

H3BQJ4

Related

ENSP00000377820.2, ENST00000394279.6

Conserved Domains (1) summary

pfam03096
Location:40 → 322

Ndr; Ndr family

RNA

NR_040072.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (8) includes an alternate exon segment in the 5' coding region, compared to variant 2, which results in a frameshift and early stop codon. The transcript is sufficiently abundant to represent as a RefSeq record; however, the predicted protein is not represented because the product is significantly truncated and the transcript is a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AK316089, BC011795