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 |
|
Other Databases |
GeneCards: NDN  Malacards: NDN |
|
GO accession | Term name | Evidence code | Go 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 |
|
|
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 |
|