Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	4808
Gene name	Nescient helix-loop-helix 2
Gene symbol	NHLH2
Synonyms (NCBI Gene)	HEN2HH27NSCL2bHLHa34
Chromosome	1
Chromosome location	1p13.1

Show/Hide all (29)

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
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
MIRT1184301	hsa-miR-154	CLIP-seq
MIRT1184302	hsa-miR-3065-5p	CLIP-seq
MIRT1184303	hsa-miR-3133	CLIP-seq
MIRT1184304	hsa-miR-342-3p	CLIP-seq
MIRT1184305	hsa-miR-3613-3p	CLIP-seq
MIRT1184306	hsa-miR-4695-3p	CLIP-seq
MIRT1184307	hsa-miR-498	CLIP-seq
MIRT1184308	hsa-miR-548ac	CLIP-seq
MIRT1184309	hsa-miR-548b-3p	CLIP-seq
MIRT1184310	hsa-miR-548d-3p	CLIP-seq
MIRT1184311	hsa-miR-548z	CLIP-seq
MIRT1184301	hsa-miR-154	CLIP-seq
MIRT2686291	hsa-miR-27a	CLIP-seq
MIRT2686292	hsa-miR-27b	CLIP-seq
MIRT2686293	hsa-miR-3919	CLIP-seq
MIRT2686294	hsa-miR-3925-5p	CLIP-seq
MIRT2686295	hsa-miR-494	CLIP-seq
MIRT2686296	hsa-miR-513a-5p	CLIP-seq
MIRT2686297	hsa-miR-922	CLIP-seq

Show/Hide all (32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IEA
GO:0000785	Component	Chromatin	ISA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001223	Function	Transcription coactivator binding	IPI	16314316
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	22169038, 32296183
GO:0005634	Component	Nucleus	IEA
GO:0005667	Component	Transcription regulator complex	TAS	16314316
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0007417	Process	Central nervous system development	IEA
GO:0007417	Process	Central nervous system development	TAS	1328219
GO:0007422	Process	Peripheral nervous system development	IEA
GO:0008584	Process	Male gonad development	IEA
GO:0021535	Process	Cell migration in hindbrain	IEA
GO:0021888	Process	Hypothalamus gonadotrophin-releasing hormone neuron development	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0042698	Process	Ovulation cycle	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	TAS	16314316
GO:0046983	Function	Protein dimerization activity	IEA
GO:0060179	Process	Male mating behavior	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA

MIM	HGNC	e!Ensembl
162361	7818	ENSG00000177551

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
LAICYISYLNHVLDV

Sequence length

135

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Hypogonadotropic hypogonadism	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypogonadotropic hypogonadism 27 without anosmia	Uncertain significance	ClinVar ClinVar, Disgenet, GWAS catalog, HPO ClinVar, Disgenet, GWAS catalog, HPO ClinVar, Disgenet, GWAS catalog, HPO	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPOPITUITARISM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC GROWTH HORMONE DEFICIENCY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KALLMANN SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANHYPOPITUITARISM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY DWARFISM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY SHORT STATURE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHEEHAN SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (11)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	36232491	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	BEFREE	27941249		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	36834605	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15930276		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	1528853, 15930276, 21573214, 23684566		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	21573214	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	16710097, 23026212, 23684566, 27941249		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	CTD_human_DG	20808804		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	36834605	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Periodontitis	Periodontitis	Pubtator	27302879	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prader-Willi Syndrome	Prader-Willi Syndrome	BEFREE	27941249, 29376887		★★★★★ ★☆☆☆☆ Found in Text Mining only

NHLH2 (nescient helix-loop-helix 2)