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Gene id 4692
Gene Summary    Protein Summary    Gene ontology    Diseases    PubMed    

Gene Summary

Gene Symbol NDN   Gene   UCSC   Ensembl
Aliases HsT16328, PWCR
Gene name necdin, MAGE family member
Alternate names necdin, Prader-Willi syndrome chromosome region, necdin homolog, necdin, melanoma antigen (MAGE) family member, necdin-like protein,
Gene location 15q11.2 (52278648: 52254423)     Exons: 9     NC_000003.12
Gene summary(Entrez) This intronless gene is located in the Prader-Willi syndrome deletion region. It is an imprinted gene and is expressed exclusively from the paternal allele. Studies in mouse suggest that the protein encoded by this gene may suppress growth in postmitotic
OMIM 602117

Protein Summary

Protein general information Q99608  

Name: Necdin

Length: 321  Mass: 36086

Tissue specificity: Almost ubiquitous. Detected in fetal brain, lung, liver and kidney; in adult heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine and colon. Not detected in pe

Sequence MSEQSKDLSDPNFAAEAPNSEVHSSPGVSEGVPPSATLAEPQSPPLGPTAAPQAAPPPQAPNDEGDPKALQQAAE
EGRAHQAPSAAQPGPAPPAPAQLVQKAHELMWYVLVKDQKKMIIWFPDMVKDVIGSYKKWCRSILRRTSLILARV
FGLHLRLTSLHTMEFALVKALEPEELDRVALSNRMPMTGLLLMILSLIYVKGRGARESAVWNVLRILGLRPWKKH
STFGDVRKLITEEFVQMNYLKYQRVPYVEPPEYEFFWGSRASREITKMQIMEFLARVFKKDPQAWPSRYREALEE
ARALREANPTAHYPRSSVSED
Structural information
Protein Domains
(98..29-)
(/note="MAGE-)
(/evidence="ECO:0000255|PROSITE-ProRule:PRU00127"-)
Interpro:  IPR037445  IPR041898  IPR041899  IPR002190  IPR030086  
Prosite:   PS50838
STRING:   ENSP00000332643
Other Databases GeneCards:  NDN  Malacards:  NDN

Gene ontology

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GO accessionTerm nameEvidence codeGo category
GO:0008285 negative regulation of ce
ll population proliferati
on
IEA biological process
GO:0048666 neuron development
IEA biological process
GO:0005634 nucleus
IEA cellular component
GO:0003677 DNA binding
IEA molecular function
GO:0040008 regulation of growth
IEA biological process
GO:0007399 nervous system developmen
t
TAS biological process
GO:0008285 negative regulation of ce
ll population proliferati
on
TAS biological process
GO:0005654 nucleoplasm
TAS cellular component
GO:0019221 cytokine-mediated signali
ng pathway
TAS biological process
GO:0005515 protein binding
IPI molecular function
GO:0005515 protein binding
IPI molecular function
GO:0005737 cytoplasm
IEA cellular component
GO:0005634 nucleus
IEA cellular component
GO:0005737 cytoplasm
IEA cellular component
GO:0006355 regulation of transcripti
on, DNA-templated
IEA biological process
GO:0007409 axonogenesis
IEA biological process
GO:0007413 axonal fasciculation
IEA biological process
GO:0007585 respiratory gaseous excha
nge by respiratory system
IEA biological process
GO:0019233 sensory perception of pai
n
IEA biological process
GO:0043015 gamma-tubulin binding
IEA molecular function
GO:0045944 positive regulation of tr
anscription by RNA polyme
rase II
IEA biological process
GO:0048011 neurotrophin TRK receptor
signaling pathway
IEA biological process
GO:0048666 neuron development
IEA biological process
GO:0000978 RNA polymerase II cis-reg
ulatory region sequence-s
pecific DNA binding
IEA molecular function
GO:0001228 DNA-binding transcription
activator activity, RNA
polymerase II-specific
IEA molecular function
GO:0001764 neuron migration
IEA biological process
GO:0003016 respiratory system proces
s
IEA biological process
GO:0005813 centrosome
IEA cellular component
GO:0005829 cytosol
IEA cellular component
GO:0007417 central nervous system de
velopment
IEA biological process
GO:0008347 glial cell migration
IEA biological process
GO:0009791 post-embryonic developmen
t
IEA biological process
GO:0042995 cell projection
IEA cellular component
GO:0048675 axon extension
IEA biological process
GO:0048871 multicellular organismal
homeostasis
IEA biological process
GO:0071514 genetic imprinting
IEA biological process
GO:0005634 nucleus
IEA cellular component
GO:0043204 perikaryon
IEA cellular component
GO:0005654 nucleoplasm
IDA cellular component
GO:0005829 cytosol
IDA cellular component
Associated diseases References
Prader-Willi syndrome KEGG:H00478
Prader-Willi syndrome KEGG:H00478
Prader-Willi syndrome PMID:9630521
Aberrant CpGs in Low Motility Sperm MIK: 21674046
Teratozoospermia MIK: 17327269

PubMed references

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PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
17327269 Teratozoos
permia

13 (5 controls,
8 cases)
Male infertility GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
Show abstract
21674046 Aberrant C
pGs in Low
Motility
Sperm

18
Male infertility GSE26881
Show abstract