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NHLH2 (nescient helix-loop-helix 2)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4808
Gene nameGene Name - the full gene name approved by the HGNC.
Nescient helix-loop-helix 2
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
NHLH2
SynonymsGene synonyms aliases
HEN2, HH27, NSCL2, bHLHa34
ChromosomeChromosome number
1
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p13.1
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT450041 hsa-miR-4714-5p PAR-CLIP 22100165
MIRT450040 hsa-miR-146a-3p PAR-CLIP 22100165
MIRT450039 hsa-miR-4766-5p PAR-CLIP 22100165
MIRT450038 hsa-miR-4635 PAR-CLIP 22100165
MIRT450037 hsa-miR-431-5p PAR-CLIP 22100165
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:0000978 Function RNA polymerase II cis-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:0001102 Function RNA polymerase II activating transcription factor binding IPI 16314316
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q02577
Protein name Helix-loop-helix protein 2 (HEN-2) (Class A basic helix-loop-helix protein 34) (bHLHa34) (Nescient helix loop helix 2) (NSCL-2)
Protein function Transcription factor which binds the E box motif 5'-CA[TC][AG]TG-3'. Involved in regulating energy expenditure, body mass, voluntary physical activity, mating behavior and reproductive longevity, acting through the hypothalamic-pituitary-gonadal
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00010 HLH
78 130
Helix-loop-helix DNA-binding domain
Domain
Sequence
MMLSPDQAADSDHPSSAHSDPESLGGTDTKVLGSVSDLEPVEEAEGDGKGGSRAALYPHP
QQLSREEKRRRRRATAKYRSAHATRERIRVEAFNLAFAELRKLLPTLPPDKKLSKIEILR
LAICYISYLN
HVLDV
Sequence length 135
Interactions View interactions
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Obesity Obesity rs34911341, rs74315349, rs1474810899, rs2282440, rs2491132, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs74315393, rs121913556, rs2989924, rs193922650, rs193922685, rs193922687, rs751160202, rs1421085, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829, rs6548238, rs7138803, rs7754840 20808804

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