Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4808
Gene name Gene Name - the full gene name approved by the HGNC.
Nescient helix-loop-helix 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NHLH2
Synonyms (NCBI Gene) Gene synonyms aliases
HEN2, HH27, NSCL2, bHLHa34
Disease Acronyms (UniProt) Disease acronyms from UniProt database
HH27
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p13.1
miRNA miRNA 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 IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
162361 7818 ENSG00000177551
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 Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Obesity Obesity rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562
View all (27 more)
20808804
Unknown
Disease term Disease name Evidence References Source
Hypogonadotropic Hypogonadism hypogonadotropic hypogonadism 27 without anosmia GenCC
Associations from Text Mining
Disease Name Relationship Type References
Carcinoma Renal Cell Associate 36232491
COVID 19 Associate 35866388
Genetic Diseases Inborn Associate 36834605
Infertility Associate 36834605
Neoplasm Metastasis Associate 36232491
Neuroblastoma Associate 21573214
Obesity Associate 36834605
Periodontitis Associate 27302879
Prader Willi Syndrome Associate 36834605