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NPAS3 (neuronal PAS domain protein 3)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
64067
Gene nameGene Name - the full gene name approved by the HGNC.
Neuronal PAS domain protein 3
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
NPAS3
SynonymsGene synonyms aliases
MOP6, PASD6, bHLHe12
ChromosomeChromosome number
14
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q13.1
SummarySummary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the basic helix-loop-helix and PAS domain-containing family of transcription factors. The encoded protein is localized to the nucleus and may regulate genes involved in neurogenesis. Chromosomal abnormalities that affect the
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT623065 hsa-miR-589-3p HITS-CLIP 23824327
MIRT616236 hsa-miR-153-5p HITS-CLIP 23824327
MIRT616235 hsa-miR-361-3p HITS-CLIP 23824327
MIRT616234 hsa-miR-4446-5p HITS-CLIP 23824327
MIRT623066 hsa-miR-548as-3p HITS-CLIP 23824327
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0005654 Component Nucleoplasm IDA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q8IXF0
Protein name Neuronal PAS domain-containing protein 3 (Neuronal PAS3) (Basic-helix-loop-helix-PAS protein MOP6) (Class E basic helix-loop-helix protein 12) (bHLHe12) (Member of PAS protein 6) (PAS domain-containing protein 6)
Protein function May play a broad role in neurogenesis. May control regulatory pathways relevant to schizophrenia and to psychotic illness (By similarity).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00989 PAS
150 229
PAS fold
Domain
PF08447 PAS_3
343 430
PAS fold
Domain
Sequence
MAPTKPSFQQDPSRRERITAQHPLPNQSECRKIYRYDGIYCESTYQNLQALRKEKSRDAA
RSRRGKENFEFYELAKLLPLPAAITSQLDKASIIRLTISYLKMRDFANQGDPPWNLRMEG
PPPNTSVKVIGAQRRRSPSALAIEVFEAHLGSHILQSLDGFVFALNQEGKFLYISETVSI
YLGLSQVELTGSSVFDYVHPGDHVEMAEQLGMKLPPGRGLLSQGTAEDG
ASSASSSSQSE
TPEPVESTSPSLLTTDNTLERSFFIRMKSTLTKRGVHIKSSGYKVIHITGRLRLRVSLSH
GRTVPSQIMGLVVVAHALPPPTINEVRIDCHMFVTRVNMDLNIIYCENRISDYMDLTPVD
IVGKRCYHFIHAEDVEGIRHSHLDLLNKGQCVTKYYRWMQKNGGYIWIQSSATIAINAKN
ANEKNIIWVN
YLLSNPEYKDTPMDIAQLPHLPEKTSESSETSDSESDSKDTSGITEDNEN
SKSDEKGNQSENSEDPEPDRKKSGNACDNDMNCNDDGHSSSNPDSRDSDDSFEHSDFENP
KAGEDGFGALGAMQIKVERYVESESDLRLQNCESLTSDSAKDSDSAGEAGAQASSKHQKR
KKRRKRQKGGSASRRRLSSASSPGGLDAGLVEPPRLLSSPNSASVLKIKTEISEPINFDN
DSSIWNYPPNREISRNESPYSMTKPPSSEHFPSPQGGGGGGGGGGGLHVAIPDSVLTPPG
ADGAAARKTQFGASATAALAPVASDPLSPPLSASPRDKHPGNGGGGGGGGGGAGGGGPSA
SNSLLYTGDLEALQRLQAGNVVLPLVHRVTGTLAATSTAAQRVYTTGTIRYAPAEVTLAM
QSNLLPNAHAVNFVDVNSPGFGLDPKTPMEMLYHHVHRLNMSGPFGGAVSAASLTQMPAG
NVFTTAEGLFSTLPFPVYSNGIHAAQTLERKED
Sequence length 933
Interactions View interactions
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Lung carcinoma Squamous cell carcinoma of lung rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355, rs121912470, rs121913273, rs121913281, rs121913348, rs727503093, rs121913353, rs397516890, rs397516896, rs121913378, rs397516897, rs397516977, rs397516978, rs397516979, rs397516980, rs397516981, rs397516982, rs121913240, rs17851045, rs397517086, rs121913428, rs397517094, rs397517098, rs397517106, rs121913465, rs397517108, rs397517111, rs397517112, rs397517114, rs397517116, rs1554350366, rs397517127, rs397517200, rs397517202, rs121913283, rs121913370, rs121913357, rs727503106, rs121913238, rs727503108, rs397517040, rs397516976, rs1555618025, rs1057519729, rs1584238193 28604730
Schizophrenia Schizophrenia rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 24674381, 20713499, 20466522, 18317462
Unknown
Disease name Disease term dbSNP ID References
Bipolar disorder Bipolar Disorder 20713499, 18317462, 24718920
Mental depression Unipolar Depression, Major Depressive Disorder rs587778876, rs587778877 20713499
Nonorganic psychosis Nonorganic psychosis 20466522
Psychosis Psychotic Disorders 20466522

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