NHLH2 Gene Summary [Human]
Enables RNA polymerase II-specific DNA-binding transcription factor binding activity and sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within with a positive effect on apoptotic process; hypothalamus gonadotrophin-releasing hormone neuron development; and peripheral nervous system development. Predicted to act upstream of or within several processes, including cell migration in hindbrain; male gonad development; and male mating behavior. Predicted to be located in nucleus. Predicted to be part of chromatin. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | NHLH2 |
| Official Name | nescient helix-loop-helix 2 [Source:HGNC Symbol;Acc:HGNC:7818] |
| Ensembl ID | ENSG00000177551 |
| Bio databases IDs | |
| Aliases | nescient helix-loop-helix 2 |
| Synonyms | 6230401I09Rik, bHLHa34, HEN2, HH27, nescient helix-loop-helix 2, NSCL2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human NHLH2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- transcription regulator
- nucleic acid binding
- double-stranded DNA binding
- basic Helix Loop Helix (bHLH) domain superfamily
- helix loop helix domain
- transcription factor binding
- protein binding
- Helix-loop-helix DNA-binding domain
- sequence-specific DNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Ullrich congenital muscular dystrophy
- obesity
- hyperphagia
- hypogonadotropic hypogonadism type 27 without anosmia
- ventricular extrasystole
- adult-onset obesity
- azoospermia
- variation QT syndrome
- motor dysfunction or movement disorder
- hypoplasia
role in cell
- expression in
- apoptosis
- number
- quantity
- migration
- transcription in
- transactivation in
- recruitment in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NHLH2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- male mating behavior
- central nervous system development
- male gonad development
- apoptotic process
- peripheral nervous system development
- cell migration in hindbrain
- hypothalamus gonadotrophin-releasing hormone neuron development
- positive regulation of sequence-specific DNA binding transcription factor activity
- positive regulation of transcription from RNA polymerase II promoter
- ovulation cycle
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- transcription factor complex
- chromatin
Molecular Function
What the gene product does at the molecular level
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- protein dimerization activity
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity