NSMF (NMDA receptor synaptonuclear signaling and neuronal migration factor)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 26012
Gene name NMDA receptor synaptonuclear signaling and neuronal migration factor
Gene symbol NSMF
Synonyms (NCBI Gene)
HH9NELF
Chromosome 9
Chromosome location 9q34.3
Summary 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 v
SNPs SNP information provided by dbSNP.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs606231136 AGGCCACAA>- Risk-factor Intron variant
miRNA miRNA information provided by mirtarbase database.
3
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (3)
miRTarBase ID miRNA Experiments Reference
MIRT048045 hsa-miR-129-5p CLASH 23622248
MIRT046715 hsa-miR-222-3p CLASH 23622248
MIRT043137 hsa-miR-324-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0000791 Component Euchromatin ISS
GO:0005515 Function Protein binding IPI 32296183, 32814053
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 20025934
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
608137 29843 ENSG00000165802
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6X4W1
Protein name NMDA receptor synaptonuclear signaling and neuronal migration factor (Nasal embryonic luteinizing hormone-releasing hormone factor) (Nasal embryonic LHRH factor)
Protein 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 pa
Family and domains
Tissue specificity 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. {ECO:0000269|PubMed:15362570, ECO:0000269|PubMed:20025934}.
Sequence 
MGAAASRRRALRSEAMSSVAAKVRAARAFGEYLSQSHPENRNGADHLLADAYSGHDGSPE
MQPAPQNKRRLSLVSNGCYEGSLSEEPSIRKPAGEGPQPRVYTISGEPALLPSPEAEAIE
LAVVKGRRQRHPHHHSQPLRASPGGSREDVSRPCQSWAGSRQGSKECPGCAQLAPGPTPR
AFGLDQPPLPETSGRRKKLERMYSVDRVSDDIPIRTWFPKENLFSFQTATTTMQAISVFR
GYAERKRRKRENDSASVIQRNFRKHLRMVGSRRVKAQTFAERRERSFSRSWSDPTPMKAD
TSHDSRDSSDLQSSHCTLDEAFEDLDWDTEKGLEAVACDTEGFVPPKVMLISSKVPKAEY
IPTIIRRDDPSIIPILYDHEHATFEDILEEIERKLNVYHKGAKIWKMLIFCQGGPGHLYL
LKNKVATFAKVEKEEDMIHFWKRLSRLMSKVNPEPNVIHIMGCYILGNPNGEKLFQNLRT
LMTPYRVTFESPLELSAQGKQMIETYFDFRLYRLWKSRQHSKLLDFDDVL
Sequence length 530
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Male infertility with azoospermia or oligozoospermia due to single gene mutation Likely pathogenic rs923607827 RCV003991624
Pituitary stalk interruption syndrome Pathogenic rs1831038541 RCV001257291
Show/Hide Unknown Diseases (13)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Colon adenocarcinoma Benign rs74899684 RCV005915115
EBV-positive nodal T- and NK-cell lymphoma Likely benign rs532612156 RCV004557850
Hepatocellular carcinoma Benign rs41309970 RCV005904004
Hypogonadotropic hypogonadism 9 with or without anosmia Benign; Likely benign; risk factor; Uncertain significance rs751029049, rs121918340, rs606231136, rs2538368862, rs1436893188, rs531757042, rs1588492186, rs776491850, rs1174502792 RCV002486893
RCV000030872
RCV000030873
RCV003131833
RCV004566428
RCV005398709
RCV000859992
RCV001199027
RCV001253245
Show/Hide Text Mining Associations (7)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 17910036, 37117180
HIV Infections Associate 23884411
Hypogonadism Associate 21300340, 26199944, 33270637, 34348883
Idiopathic Hypogonadotropic Hypogonadism Associate 17235395, 21300340
Kallmann Syndrome Associate 21300340, 22035731, 23533228, 37378431
Neoplasms Associate 17499042
Neurologic Manifestations Associate 17499042