Gene_Locus Report

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Gene_locus Report for: human-NDRG4

Homo sapiens (Human) NDRG4, N-myc downstream-regulated gene 4 protein (smap-8) flj42011 flj16174 flj44611

Comment
Brain development-related molecule 1, N-myc downstream-regulated gene 4 protein, Vascular smooth muscle cell-associated protein 8, SMAP-8 old human-ndr4. 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)


Relationship
Family|Ndr_family
Block| X
Position in NCBI Life Tree|Homo sapiens
(Below N is a link to NCBI taxonomic web page and E link to ESTHER at designed phylum.)
> cellular organisms: N E > Eukaryota: N E > Opisthokonta: N E > Metazoa: N E > Eumetazoa: N E > Bilateria: N E > Deuterostomia: N E > Chordata: N E > Craniata: N E > Vertebrata: N E > Gnathostomata: N E > Teleostomi: N E > Euteleostomi: N E > Sarcopterygii: N E > Dipnotetrapodomorpha: N E > Tetrapoda: N E > Amniota: N E > Mammalia: N E > Theria: N E > Eutheria: N E > Boreoeutheria: N E > Euarchontoglires: N E > Primates: N E > Haplorrhini: N E > Simiiformes: N E > Catarrhini: N E > Hominoidea: N E > Hominidae: N E > Homininae: N E > Homo: N E > Homo sapiens: N E


Molecular evidence
Database
1 mutation: human-NDRG4
No structure
No kinetic

Disease: pulmonary atresia with ventricular septal defect (PA/VSD) and tetralogy of Fallot (TOF) -



No Substrate
No inhibitor
>3 Genbank links 16 more: AK131248, AK126574, AK124005
>3 UniProt links 7 more: Q9ULP0, B7Z9X4, B3KX54
>3 UniProt links 33 more: Q9ULP0, B7Z9X4, B3KX54
>3 Interpro links 33 more: Q9ULP0, B7Z9X4, B3KX54
>3 Prodom links 33 more: Q9ULP0, B7Z9X4, B3KX54
>3 Pfam links 33 more: Q9ULP0, B7Z9X4, B3KX54
>3 PIRSF links 33 more: Q9ULP0, B7Z9X4, B3KX54
>3 SUPERFAM links 33 more: Q9ULP0, B7Z9X4, B3KX54
1 EntrezGene : 65009
1 SNP : 65009
1 UniGene : 322430
1 HUGO HGNC : 14466
2 OMIM : 178370, 614463
1 Ensembl : ENSG00000103034
Sequence
Graphical view for this peptide sequence: human-NDRG4
Colored MSA for Ndr_family (raw)
MPECWDGEHDIETPYGLLHVVIRGSPKGNRPAILTYHDVGLNHKLCFNTF
FNFEDMQEITKHFVVCHVDAPGQQVGASQFPQGYQFPSMEQLAAMLPSVV
QHFGFKYVIGIGVGAGAYVLAKFALIFPDLVEGLVLVNIDPNGKGWIDWA
ATKLSGLTSTLPDTVLSHLFSQEELVNNTELVQSYRQQIGNVVNQANLQL
FWNMYNSRRDLDINRPGTVPNAKTLRCPVMLVVGDNAPAEDGVVECNSKL
DPTTTTFLKMADSGGLPQVTQPGKLTEAFKYFLQGMGYIAYLKDRRLSGG
AVPSASMTRLARSRTASLTSASSVDGSRPQACTHSESSEGLGQVNHTMEV
SC
Legend This sequence has been compared to family alignement (MSA)
red => minority aminoacid
blue => majority aminoacid
color intensity => conservation rate
title => sequence position(MSA position)aminoacid rate
Catalytic site
Catalytic site in the MSA

MPECWDGEHDIETPYGLLHVVIRGSPKGNRPAILTYHDVGLNHKLCFNTF
FNFEDMQEITKHFVVCHVDAPGQQVGASQFPQGYQFPSMEQLAAMLPSVV
QHFGFKYVIGIGVGAGAYVLAKFALIFPDLVEGLVLVNIDPNGKGWIDWA
ATKLSGLTSTLPDTVLSHLFSQEELVNNTELVQSYRQQIGNVVNQANLQL
FWNMYNSRRDLDINRPGTVPNAKTLRCPVMLVVGDNAPAEDGVVECNSKL
DPTTTTFLKMADSGGLPQVTQPGKLTEAFKYFLQGMGYIAYLKDRRLSGG
AVPSASMTRLARSRTASLTSASSVDGSRPQACTHSESSEGLGQVNHTMEV
SC


References
9 more
    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)
    Peng J, Wang Q, Meng Z, Wang J, Zhou Y, Zhou S, Song W, Chen S, Chen AF, Sun K
    Ref: FEBS Open Bio, 11:375, 2021 : PubMed

            

    Title: Hypermethylation-mediated silencing of NDRG4 promotes pancreatic ductal adenocarcinoma by regulating mitochondrial function
    Shi HH, Liu HE, Luo XJ
    Ref: BMB Rep, 53:658, 2020 : PubMed

            

    Title: Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis (Linhares et al., 2014) turns out to be EBV+ leiomyomatosis caused by CARMIL2 mutations
    Linhares ND, Freire MCM, Cardenas R, Pena HB, Bahia M, Pena SDJ
    Ref: Eur Journal of Medical Genetics, 61:106, 2018 : PubMed

            


Other Papers


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Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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