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NSMF Gene

protein-coding   GIFtS: 43
GCID: GC09M140343

NMDA Receptor Synaptonuclear Signaling And Neuronal Migration...

(Previous name: nasal embryonic LHRH factor)
(Previous symbol: NELF)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
NMDA Receptor Synaptonuclear Signaling And Neuronal Migration
Factor1 2
NELF1 2 3 5
Nasal Embryonic LHRH Factor1 2 3
Nasal Embryonic Luteinizing Hormone-Releasing Hormone Factor2 3
HH92 5

External Ids:    HGNC: 298431   Entrez Gene: 260122   Ensembl: ENSG000001658027   OMIM: 6081375   UniProtKB: Q6X4W13   

Export aliases for NSMF gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for NSMF Gene:
The protein encoded by this gene is involved in guidance of olfactory axon projections and migration of
luteinizing hormone-releasing hormone neurons. Defects in this gene are a cause of idiopathic hypogonadotropic
hypogonadism (IHH). Several transcript variants encoding different isoforms have been found for this gene.
(provided by RefSeq, May 2010)

GeneCards Summary for NSMF Gene:
NSMF (NMDA receptor synaptonuclear signaling and neuronal migration factor) is a protein-coding gene. Diseases associated with NSMF include hypogonadotropic hypogonadism 9 with or without anosmia, and hypogonadotropic hypogonadism 17 with or without anosmia. GO annotations related to this gene include calcium-dependent protein binding.

UniProtKB/Swiss-Prot: NSMF_HUMAN, Q6X4W1
Function: Couples NMDA-sensitive glutamate receptor signaling to the nucleus and triggers long-lasting changes in
the cytoarchitecture of dendrites and spine synapse processes. Part of the cAMP response element-binding protein
(CREB) shut-off signaling pathway. Stimulates outgrowth of olfactory axons and migration of
gonadotropin-releasing hormone (GnRH) and luteinizing-hormone-releasing hormone (LHRH) neuronal cells

Gene Wiki entry for NSMF (Nasal embryonic LHRH factor) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000009.12  NT_008470.20  NC_018920.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for NSMF
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for NSMF

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NSMF


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q34.3   Ensembl cytogenetic band:  9q34.3   HGNC cytogenetic band: 9q34.3

NSMF Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NSMF gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M140343:  view genomic region     (about GC identifiers)

Start:
140,342,022 bp from pter      End:
140,353,786 bp from pter
Size:
11,765 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: NSMF_HUMAN, Q6X4W1 (See protein sequence)
Recommended Name: NMDA receptor synaptonuclear signaling and neuronal migration factor  
Size: 530 amino acids; 60143 Da
Subunit: Interacts with KPNA1; the interaction occurs in a calcium-independent manner after synaptic NMDA receptor
stimulation and is required for nuclear import of NSMF but is competed by CABP1. Interacts (via the central
NLS-containing motif region) with CABP1 (via EF-hands 1 and 2); the interaction occurs in a calcium-dependent
manner after synaptic NMDA receptor stimulation and prevents the nuclear import of NSMF. Cannot be competed by
calmodulin (By similarity)
Miscellaneous: NSMF mRNAs expressed in the hippocampus exhibit a prominent dendritic localization which is
mediated by a dendritic targeting element (DTE) residing in the 3'-untranslated region (3'UTR). Transport from
dendrites to the nucleus is induced by NMDA receptor activation and results in a rapid stripping of synaptic
contacts and a reduction of dendritic complexity (By similarity)
Sequence caution: Sequence=BAB55139.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=CAI14577.1; Type=Erroneous gene model prediction; Sequence=CAI14578.1; Type=Erroneous gene model
prediction;
Secondary accessions: Q2TB96 Q6X4V7 Q6X4V8 Q6X4V9 Q8N2M2 Q96SY1 Q9NPM4 Q9NPP3 Q9NPS3
Alternative splicing: 6 isoforms:  Q6X4W1-1   Q6X4W1-2   Q6X4W1-3   Q6X4W1-4   Q6X4W1-5   Q6X4W1-6   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NSMF: NX_Q6X4W1

Explore proteomics data for NSMF at MOPED

Post-translational modifications: 

  • Proteolytically processed after NMDA receptor activation. Cleaved in a calcium-dependent and calpain-sensitive
    manner. Calpain cleavage is essential for the translocation process from dendrites to the nucleus (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See NSMF Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001124441.1  NP_001124442.1  NP_001124443.1  NP_001171535.1  NP_056352.3  

    ENSEMBL proteins: 
     ENSP00000342966   ENSP00000360537   ENSP00000360527   ENSP00000360523   ENSP00000360530  
     ENSP00000265663   ENSP00000412007   ENSP00000376559   ENSP00000360529   ENSP00000360528  
     ENSP00000444177  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    ProtoNet protein and cluster: Q6X4W1

    UniProtKB/Swiss-Prot: NSMF_HUMAN, Q6X4W1
    Similarity: Belongs to the NSMF family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NSMF_HUMAN, Q6X4W1
    Function: Couples NMDA-sensitive glutamate receptor signaling to the nucleus and triggers long-lasting changes in
    the cytoarchitecture of dendrites and spine synapse processes. Part of the cAMP response element-binding protein
    (CREB) shut-off signaling pathway. Stimulates outgrowth of olfactory axons and migration of
    gonadotropin-releasing hormone (GnRH) and luteinizing-hormone-releasing hormone (LHRH) neuronal cells

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0048306calcium-dependent protein binding ISS--
         
    NSMF for ontologies           About GeneDecksing


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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NSMF_HUMAN, Q6X4W1: Nucleus. Nucleus envelope (By similarity). Nucleus membrane (By similarity). Nucleus matrix
    (By similarity). Cytoplasm. Cytoplasm, cell cortex (By similarity). Cytoplasm, cytoskeleton (By similarity). Cell
    membrane; Peripheral membrane protein. Cell projection, dendrite (By similarity). Cell junction, synapse (By
    similarity). Cell junction, synapse, synaptosome (By similarity). Cell junction, synapse, postsynaptic cell
    membrane, postsynaptic density (By similarity). Membrane (By similarity). Note=Found on the outside of the
    luteinizing-hormone-releasing hormone (LHRH) cell membrane and axons projecting from the olfactory pit and
    epithelium. Associates with transcriptionally active chromatin regions. Detected at the nuclear membranes of CA1
    neurons. Cortical cytoskeleton. Localized in proximal apical dendrites. Colocalizes with CABP1 in dendrites and
    dendritic spines. Myristoylation is a prerequisite for extranuclear localization. Translocates from dendrites to
    the nucleus during NMDA receptor-dependent long-term potentiation (LTP) induction of synaptic transmission at
    Schaffer collateral/CA1 synapses of hippocampal primary neurons and in a importin-dependent manner (By
    similarity)

    Gene Ontology (GO): Selected cellular component terms (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005635nuclear envelope ISS--
    GO:0005719nuclear euchromatin ISS--
    GO:0005737cytoplasm IDA--
    GO:0014069postsynaptic density ISS--

    NSMF for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NSMF
    Interactions:

        Search GeneGlobe Interaction Network for NSMF

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for NSMF (Q6X4W12, 3 ENSP000003605304) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RANP628262, 3, ENSP000003961274MINT-63976 I2D: score=2 STRING: ENSP00000396127
    HSPB3Q129882, 3, ENSP000003033944MINT-64103 I2D: score=4 STRING: ENSP00000303394
    GFI1BQ5VTD93, ENSP000003447824I2D: score=2 STRING: ENSP00000344782
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0035307positive regulation of protein dephosphorylation ISS--
    GO:0043523regulation of neuron apoptotic process ISS--
    GO:0048168regulation of neuronal synaptic plasticity ISS--
    GO:0048814regulation of dendrite morphogenesis ISS--
    GO:0071230cellular response to amino acid stimulus ISS--

    NSMF for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for NSMF

    4 Novoseek inferred chemical compound relationships for NSMF gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    5,6-dichloro-1-beta-d-ribofuranosylbenzimidazole 90.2 12 16880520 (1), 19654008 (1), 11553615 (1), 17567605 (1) (see all 6)
    gnrh 64.1 38 20025934 (5), 12142333 (5), 10898796 (4), 15018815 (3) (see all 10)
    testosterone 6.7 3 1705094 (1)
    estrogen 2.73 4 17659869 (1), 2116092 (1), 15342491 (1)



    NSMF for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for NSMF gene (5 alternative transcripts): 
    NM_001130969.1  NM_001130970.1  NM_001130971.1  NM_001178064.1  NM_015537.4  

    Unigene Cluster for NSMF:

    NMDA receptor synaptonuclear signaling and neuronal migration factor
    Hs.455336  [show with all ESTs]
    Unigene Representative Sequence: NM_001130969
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000339554(uc011mex.2 uc010nci.3) ENST00000371482 ENST00000371472
    ENST00000484316 ENST00000482448 ENST00000371468 ENST00000371475(uc004cna.3)
    ENST00000265663(uc004cmz.3) ENST00000437259(uc022bqi.1) ENST00000392812
    ENST00000371474(uc011mey.2 uc011mez.2 uc004cnc.3) ENST00000371473(uc004cnb.3)
    ENST00000541195
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    Additional mRNA sequence: 

    AJ420418.1 AK027474.1 AK074602.1 AK292030.1 AK294320.1 AK303703.1 AK303976.1 AK316046.1 
    AL117660.2 AL389944.1 AL389946.1 AY255128.1 AY255129.1 AY255130.1 AY255131.1 BC004318.1 
    BC016862.2 BC072412.1 BC110498.2 

    20 DOTS entries:

    DT.317334  DT.100822961  DT.102835608  DT.95162107  DT.100822959  DT.100822958  DT.100822956  DT.92439789 
    DT.92439792  DT.100000615  DT.100722863  DT.121168891  DT.121168898  DT.121168923  DT.97855142  DT.121168890 
    DT.121168905  DT.75143935  DT.95162101  DT.121168910 

    Selected AceView cDNA sequences (see all 420):

    BG820116 CB128829 AI193500 BU538804 BM789830 BQ431599 BQ924661 CR595636 
    BC072412 BM850507 BM023184 BF930109 BM826052 AI027552 BQ185487 BF513129 
    BU902603 BU556889 CA425370 CB529512 AI241306 BM854574 BQ940226 AW468694 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for NSMF (see all 10)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17a · 17b ^ 18
    SP1:                                            -     -           -                                         -                           
    SP2:                                      -     -     -           -                                         -                           
    SP3:                                            -     -                                                     -                           
    SP4:                                                                                                        -                           
    SP5:                                            -     -                                                                                 


    ECgene alternative splicing isoforms for NSMF

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    NSMF expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    NSMF Expression
    About this image


    NSMF expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 18 entries
             Thalamus
             Vomeronasal organ   
     
     Adipose (Muscoskeletal System)
             HyStem+BMP4-induced SM30 cells
     
     Bone (Muscoskeletal System)
             HyStem+BMP4-induced SM30 cells
     
     Cartilage (Muscoskeletal System)
             HyStem+BMP4-induced SM30 cells
     
     Neural Tube (Nervous System)
             Telencephalon
    NSMF Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NSMF Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.455336

    UniProtKB/Swiss-Prot: NSMF_HUMAN, Q6X4W1
    Tissue specificity: Highly expressed in adult and fetal brain. Weakly expressed in heart, liver, spleen, testis,
    small intestine, skeletal muscle, peripheral white blood cells and kidney

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for NSMF gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nsmf1 , 5 nasal embryonic LHRH factor5
    NMDA receptor synaptonuclear signaling and neuronal more1
    89.81(n)1
    94.34(a)1
      2 (16.94 cM)5
    568761  NM_001039386.11  NP_001034475.11 
     250543555 
    chicken
    (Gallus gallus)
    Aves NELF1 nasal embryonic LHRH factor 74.17(n)
    77.86(a)
      417260  XM_004945784.1  XP_004945841.1 
    lizard
    (Anolis carolinensis)
    Reptilia NSMF6
    NMDA receptor synaptonuclear signaling and neurona...
    81(a)
    1 ↔ 1
    GL344973.1(21-12759)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia nsmf1 NMDA receptor synaptonuclear signaling and neuronal more 72.12(n)
    72.12(a)
      100144675  NM_001123437.1  NP_001116909.1 
    zebrafish
    (Danio rerio)
    Actinopterygii nsmfa1 NMDA receptor synaptonuclear signaling and neuronal more 67.12(n)
    66.54(a)
      555195  XM_677648.5  XP_682740.5 


    ENSEMBL Gene Tree for NSMF (if available)
    TreeFam Gene Tree for NSMF (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NSMF gene
    2 SIMAP similar genes for NSMF using alignment to 5 protein entries:     NSMF_HUMAN (see all proteins):
    NELF    DKFZp586J1624

    NSMF for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for NSMF (see all 338)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0699674
    Hypogonadotropic hypogonadism 9 with or without anosmia (HH9)4--see VAR_0699672 R H mis40--------
    VAR_0230034
    Hypogonadotropic hypogonadism 9 with or without anosmia (HH9)4--see VAR_0230032 T A mis40--------
    rs1443221821,2
    --140341581(+) TTTGAC/TGTGTC 5 -- ds50010--------
    rs1164008501,2
    C,F--140341686(+) CCCTAC/TGGACC 5 -- ds50011Minor allele frequency- T:0.03WA 118
    rs1158217391,2
    C,F--140341708(+) GACAGG/TCATGC 5 -- ds50011Minor allele frequency- T:0.03WA 118
    rs1401230121,2
    --140341743(+) CCTGAC/TGGGTT 5 -- ds50010--------
    rs776566031,2
    C,F--140341771(+) GTGGCT/AGTTCT 5 -- ds50011Minor allele frequency- A:0.03WA 118
    rs1116163751,2
    C,F--140341797(+) GGTGAC/TGGACA 5 -- ds50011Minor allele frequency- T:0.50CSA 2
    rs1420727821,2
    C--140341892(+) TGCACC/GGCAGC 5 -- ds50010--------
    rs1876401941,2
    --140341897(+) GGCAGC/TGTCAG 5 -- ds50010--------

    HapMap Linkage Disequilibrium report for NSMF (140342022 - 140353786 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for NSMF: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NSMF
    DNA2.0 Custom Variant and Variant Library Synthesis for NSMF

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608137   
    OMIM disorders: 614838  
    UniProtKB/Swiss-Prot: NSMF_HUMAN, Q6X4W1
  • Hypogonadotropic hypogonadism 9 with or without anosmia (HH9) [MIM:614838]: A disorder characterized by
    absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating
    gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it
    is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss.
    Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is
    due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of
    gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic
    hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been
    termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). Note=The disease is caused by mutations
    affecting distinct genetic loci, including the gene represented in this entry. The genetics of hypogonadotropic
    hypogonadism involves various modes of transmission. Oligogenic inheritance has been reported in some patients
    carrying mutations in NSMF as well as in other HH-associated genes including FGFR1 (PubMed:23643382)

  • 19 diseases for NSMF:    
    About MalaCards
    hypogonadotropic hypogonadism 9 with or without anosmia    hypogonadotropic hypogonadism 17 with or without anosmia    hypogonadotropic hypogonadism 8 with or without anosmia    hypogonadism
    kallmann syndrome    hypogonadotropism    sensorineural hearing loss    neuronitis
    conjunctivitis    cleft palate    hiv-1    ataxia
    hepatitis    prostate cancer    prostatitis    multiple myeloma
    myeloma    cerebritis    breast cancer


    NSMF for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for NSMF gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    kallmann syndrome 83.8 4 15362570 (1), 16423815 (1)
    hepatitis delta 44.6 4 12612062 (1), 11387440 (1)
    breast cancer 0 2 15342491 (1), 20028984 (1)
    immunodeficiency 0 1 14701750 (1)


    Export disorders for NSMF gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for NSMF gene, integrated from 10 sources (see all 65):
    (articles sorted by number of sources associating them with NSMF)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH). (PubMed id 15362570)1, 2, 9 Miura K.... Seminara S.B. (J. Hum. Genet. 2004)
    2. NELF is a nuclear protein involved in hypothalamic GnRH neuronal migration. (PubMed id 20025934)1, 2, 9 Xu N.... Layman L.C. (Mol. Cell. Endocrinol. 2010)
    3. Novel gene expressed in nasal region influences outgrowth of olfactory axons and migration of luteinizing hormone-releasing hormone (LHRH) neurons. (PubMed id 10898796)1, 3, 9 Kramer P.R. and Wray S. (amp 2000)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (Nature 2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 3 Wiemann S.... Poustka A. (Genome Res. 2001)
    8. Cellular dynamics of the negative transcription elongation factor NELF. (PubMed id 19245807)1, 9 Yung T.M....Handa H. (Exp. Cell Res. 2009)
    9. NELF, a multisubunit complex containing RD, cooperates with DSIF to repress RNA polymerase II elongation. (PubMed id 10199401)1, 9 Yamaguchi Y.... Handa H. (Cell 1999)
    10. The prevalence of intragenic deletions in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. (PubMed id 18463157)1, 9 Pedersen-White J.R....Layman L.C. (Mol. Hum. Reprod. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 26012 HGNC: 29843 AceView: NELFandC9orf111 Ensembl:ENSG00000165802 euGenes: HUgn26012
    ECgene: NSMF H-InvDB: NSMF

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for NSMF Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NSMF gene:
    Search GeneIP for patents involving NSMF

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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