NSMF (NMDA receptor synaptonuclear signaling and neuronal migration factor)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
26012
Gene name Gene Name - the full gene name approved by the HGNC.
NMDA receptor synaptonuclear signaling and neuronal migration factor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NSMF
Synonyms (NCBI Gene) Gene synonyms aliases
HH9, NELF
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q34.3
Summary Summary of gene provided in NCBI Entrez 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 v
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(44)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
608137 29843 ENSG00000165802
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Hypogonadotropic Hypogonadism hypogonadotropic hypogonadism N/A N/A GenCC
Hypogonadotropic Hypogonadism With Or Without Anosmia hypogonadotropic hypogonadism 9 with or without anosmia N/A N/A ClinVar, GenCC
Show/Hide Text Mining Associations (7)
Associations from Text Mining Disease 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