Nhlh2 nescient helix loop helix 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Nhlh2provided by MGI
Official Full Name: nescient helix loop helix 2provided by MGI
Primary source: MGI:MGI:97324
See related: Ensembl:ENSMUSG00000048540 AllianceGenome:MGI:97324
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Hen2; NSCL2; Nscl-2; bHLHa34; 6230401I09Rik
Summary: Enables DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and RNA polymerase II-specific DNA-binding transcription factor binding activity. Involved in positive regulation of transcription by RNA polymerase II. Acts upstream of or within with a positive effect on apoptotic process; hypothalamus gonadotrophin-releasing hormone neuron development; and peripheral nervous system development. Acts upstream of or within several processes, including cell migration in hindbrain; male gonad development; and male mating behavior. Located in chromatin. Is expressed in several structures, including central nervous system; embryo ectoderm; genitourinary system; head mesenchyme derived from neural crest; and sensory organ. Human ortholog(s) of this gene implicated in hypogonadotropic hypogonadism. Orthologous to human NHLH2 (nescient helix-loop-helix 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in CNS E11.5 (RPKM 15.9), whole brain E14.5 (RPKM 8.5) and 3 other tissues See more
Orthologs: human all
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Genomic context

Location:: 3 F2.2; 3 44.3 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (101917425..101922808)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (102010111..102015492)

Chromosome 3 - NC_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Snord116 Post-transcriptionally Increases Nhlh2 mRNA Stability: Implications for Human Prader-Willi Syndrome.
Title: Snord116 Post-transcriptionally Increases Nhlh2 mRNA Stability: Implications for Human Prader-Willi Syndrome.
Arcuate Nucleus Overexpression of NHLH2 Reduces Body Mass and Attenuates Obesity-Associated Anxiety/Depression-like Behavior.
Title: Arcuate Nucleus Overexpression of NHLH2 Reduces Body Mass and Attenuates Obesity-Associated Anxiety/Depression-like Behavior.
suggested that the expression levels of Lmo3 and/or Hen2 could determine the fate of stem cells by inhibiting Hes1 function during nervous system development and might be a trigger of aberrant neurogenesis in vivo
Title: Oncogenic Lmo3 cooperates with Hen2 to induce hydrocephalus in mice.
We found that loss of Nscl-2 results in aberrant migration of gonadotropin releasing hormone neurons in Nscl-2 mutant mice causing a lineage switch of ectopically located gonadotropin releasing hormone neurons
Title: Loss of NSCL-2 in gonadotropin releasing hormone neurons leads to reduction of pro-opiomelanocortin neurons in specific hypothalamic nuclei and causes visceral obesity.
Melanocortin 4 receptor is a transcriptional target of nescient helix-loop-helix-2
Title: Melanocortin 4 receptor is a transcriptional target of nescient helix-loop-helix-2.
Nhlh2 in the central control of adipocyte function
Title: Deletion of Nhlh2 results in a defective torpor response and reduced Beta adrenergic receptor expression in adipose tissue.
the reduction of the innervation and vascularization of white adipose tissue in Nscl-2 mutant mice leads to the increase of preadipocyte/macrophage-like cells, a bimodal distribution of the size of adipocytes
Title: Defective peripheral nerve development is linked to abnormal architecture and metabolic activity of adipose tissue in Nscl-2 mutant mice.
transcriptional activity by Nhlh2 promotes either the motivation or the ability to exercise. Loss of Nhlh2 through either directed mutation (N2KO mice) or spontaneous mutationsleads to reduced physical activity and body weight gain
Title: Nhlh2: a basic helix-loop-helix transcription factor controlling physical activity.
Coordinated control of PC1/3 transcription by Nhlh2 and STAT3 after leptin stimulation.
Title: Nescient helix-loop-helix 2 interacts with signal transducer and activator of transcription 3 to regulate transcription of prohormone convertase 1/3.
Nhlh2 plays a role in the development and functional maintenance of the hypothalamic-pituitary-gonadal axis
Title: Pubertal impairment in Nhlh2 null mice is associated with hypothalamic and pituitary deficiencies.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Targeted (5) 1 citation

General gene information

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Markers

Nhlh2 (e-PCR), detects polymorphism
- UniSTS:547274

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables RNA polymerase II-specific DNA-binding transcription factor binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein dimerization activity	IEA Inferred from Electronic Annotation more info
enables sequence-specific double-stranded DNA binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within_positive_effect apoptotic process	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within cell migration in hindbrain	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within_positive_effect hypothalamus gonadotrophin-releasing hormone neuron development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within male gonad development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within male mating behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within ovulation cycle	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within_positive_effect peripheral nervous system development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in chromatin	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: helix-loop-helix protein 2

Names: HEN-2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001428460.1 → NP_001415389.1 helix-loop-helix protein 2

Status: VALIDATED

Source sequence(s)

AC166072

UniProtKB/Swiss-Prot

Q64221, Q8BFV7
NM_178777.4 → NP_848892.1 helix-loop-helix protein 2

See identical proteins and their annotated locations for NP_848892.1

Status: VALIDATED

Source sequence(s)

AC166072

Consensus CDS

CCDS17685.1

UniProtKB/Swiss-Prot

Q64221, Q8BFV7

Related

ENSMUSP00000142746.2, ENSMUST00000196324.2

Conserved Domains (1) summary

cd19702
Location:63 → 135

bHLH_TS_HEN2; basic helix-loop-helix (bHLH) domain found in helix-loop-helix protein 2 (HEN-2) and similar proteins

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000069.7 Reference GRCm39 C57BL/6J

Range

101917425..101922808

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006501112.4 → XP_006501175.1 helix-loop-helix protein 2 isoform X1

Conserved Domains (1) summary

cd19702
Location:63 → 135

bHLH_TS_HEN2; basic helix-loop-helix (bHLH) domain found in helix-loop-helix protein 2 (HEN-2) and similar proteins