NSMF (NMDA receptor synaptonuclear signaling and neuronal migration factor)

2014-11-01  

Identity

HGNC
LOCATION
9q34.3
LOCUSID
ALIAS
HH9,NELF
FUSION GENES

Other Information

Locus ID:

NCBI: 26012
MIM: 608137
HGNC: 29843
Ensembl: ENSG00000165802

Variants:

dbSNP: 26012
ClinVar: 26012
TCGA: ENSG00000165802
COSMIC: NSMF

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000165802ENST00000265663Q6X4W1
ENSG00000165802ENST00000371472Q6X4W1
ENSG00000165802ENST00000371473Q6X4W1
ENSG00000165802ENST00000371474Q6X4W1
ENSG00000165802ENST00000371475Q6X4W1
ENSG00000165802ENST00000437259Q6X4W1
ENSG00000165802ENST00000482448A0A1B0GUJ1

Expression (GTEx)

0
50
100
150
200
250
300
350
400
450
500

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
238844112013Negative elongation factor (NELF) coordinates RNA polymerase II pausing, premature termination, and chromatin remodeling to regulate HIV transcription.33
213003402011Nasal embryonic LHRH factor (NELF) mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome.25
184631572008The prevalence of intragenic deletions in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.16
194898742010Screening of autosomal gene deletions in patients with hypogonadotropic hypogonadism using multiplex ligation-dependent probe amplification: detection of a hemizygosis for the fibroblast growth factor receptor 1.10
200259342010NELF is a nuclear protein involved in hypothalamic GnRH neuronal migration.8
243163762014Differential expression of nasal embryonic LHRH factor (NELF) variants in immortalized GnRH neuronal cell lines.1
290508622018JAK/STAT signaling pathway gene expression is reduced following Nelf knockdown in GnRH neurons.1

Citation

Dessen P

NSMF (NMDA receptor synaptonuclear signaling and neuronal migration factor)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70988/nsmf