Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	4808
Gene name	Nescient helix-loop-helix 2
Gene symbol	NHLH2
Synonyms (NCBI Gene)	HEN2HH27NSCL2bHLHa34
Chromosome	1
Chromosome location	1p13.1

29 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

32 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)

Phenotype Name	Clinical Significance	Source	Reference	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. Show/Hide Unknown Diseases (10)
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	34494548, 35066646, 9090387	★★★★★ ★★★☆☆ 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	20808804	★★★★★ ★★☆☆☆ 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

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (11)
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

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
FEZF1	8	["Hypogonadotropic hypogonadism","Hypopituitarism","Growth hormone deficiency","Kallmann syndrome","Panhypopituitarism","Pituitary dwarfism","Pituitary short stature","Sheehan syndrome"]	[]	11	["Disgenet (Hypogonadotropic hypogonadism)","GWAS catalog (Hypogonadotropic hypogonadism)","ClinVar (Hypogonadotropic hypogonadism)","HPO (Hypogonadotropic hypogonadism)","Disgenet (Hypopituitarism)","Disgenet (Growth hormone deficiency)","Disgenet (Kallmann syndrome)","Disgenet (Panhypopituitarism)","Disgenet (Pituitary dwarfism)","Disgenet (Pituitary short stature)","Disgenet (Sheehan syndrome)"]
FGF17	8	["Hypogonadotropic hypogonadism","Hypopituitarism","Growth hormone deficiency","Kallmann syndrome","Panhypopituitarism","Pituitary dwarfism","Pituitary short stature","Sheehan syndrome"]	[]	11	["Disgenet (Hypogonadotropic hypogonadism)","GWAS catalog (Hypogonadotropic hypogonadism)","ClinVar (Hypogonadotropic hypogonadism)","HPO (Hypogonadotropic hypogonadism)","Disgenet (Hypopituitarism)","Disgenet (Growth hormone deficiency)","Disgenet (Kallmann syndrome)","Disgenet (Panhypopituitarism)","Disgenet (Pituitary dwarfism)","Disgenet (Pituitary short stature)","Disgenet (Sheehan syndrome)"]
NDNF	8	["Hypogonadotropic hypogonadism","Hypopituitarism","Growth hormone deficiency","Kallmann syndrome","Panhypopituitarism","Pituitary dwarfism","Pituitary short stature","Sheehan syndrome"]	[]	10	["Disgenet (Hypogonadotropic hypogonadism)","ClinVar (Hypogonadotropic hypogonadism)","HPO (Hypogonadotropic hypogonadism)","Disgenet (Hypopituitarism)","Disgenet (Growth hormone deficiency)","Disgenet (Kallmann syndrome)","Disgenet (Panhypopituitarism)","Disgenet (Pituitary dwarfism)","Disgenet (Pituitary short stature)","Disgenet (Sheehan syndrome)"]
TAC3	8	["Hypogonadotropic hypogonadism","Hypopituitarism","Growth hormone deficiency","Kallmann syndrome","Panhypopituitarism","Pituitary dwarfism","Pituitary short stature","Sheehan syndrome"]	[]	11	["Disgenet (Hypogonadotropic hypogonadism)","GWAS catalog (Hypogonadotropic hypogonadism)","ClinVar (Hypogonadotropic hypogonadism)","HPO (Hypogonadotropic hypogonadism)","Disgenet (Hypopituitarism)","Disgenet (Growth hormone deficiency)","Disgenet (Kallmann syndrome)","Disgenet (Panhypopituitarism)","Disgenet (Pituitary dwarfism)","Disgenet (Pituitary short stature)","Disgenet (Sheehan syndrome)"]
HS6ST1	8	["Hypogonadotropic hypogonadism","Hypopituitarism","Growth hormone deficiency","Kallmann syndrome","Panhypopituitarism","Pituitary dwarfism","Pituitary short stature","Sheehan syndrome"]	[]	9	["Disgenet (Hypogonadotropic hypogonadism)","ClinVar (Hypogonadotropic hypogonadism)","Disgenet (Hypopituitarism)","Disgenet (Growth hormone deficiency)","Disgenet (Kallmann syndrome)","Disgenet (Panhypopituitarism)","Disgenet (Pituitary dwarfism)","Disgenet (Pituitary short stature)","Disgenet (Sheehan syndrome)"]

NHLH2 (nescient helix-loop-helix 2)

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