Details for: NHLH2

Gene ID: 4808

Symbol: NHLH2

Ensembl ID: ENSG00000177551

Description: nescient helix-loop-helix 2

Associated with

  • Apoptotic process
    (GO:0006915)
  • Cell migration in hindbrain
    (GO:0021535)
  • Central nervous system development
    (GO:0007417)
  • Chromatin
    (GO:0000785)
  • Dna-binding transcription activator activity, rna polymerase ii-specific
    (GO:0001228)
  • Dna-binding transcription factor activity, rna polymerase ii-specific
    (GO:0000981)
  • Hypothalamus gonadotrophin-releasing hormone neuron development
    (GO:0021888)
  • Male gonad development
    (GO:0008584)
  • Male mating behavior
    (GO:0060179)
  • Nucleus
    (GO:0005634)
  • Ovulation cycle
    (GO:0042698)
  • Peripheral nervous system development
    (GO:0007422)
  • Positive regulation of dna-binding transcription factor activity
    (GO:0051091)
  • Positive regulation of transcription by rna polymerase ii
    (GO:0045944)
  • Protein binding
    (GO:0005515)
  • Protein dimerization activity
    (GO:0046983)
  • Regulation of transcription by rna polymerase ii
    (GO:0006357)
  • Rna polymerase ii-specific dna-binding transcription factor binding
    (GO:0061629)
  • Rna polymerase ii cis-regulatory region sequence-specific dna binding
    (GO:0000978)
  • Sequence-specific double-stranded dna binding
    (GO:1990837)
  • Transcription regulator complex
    (GO:0005667)

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 1.9579
    Cell Significance Index: 21.7400
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 1.2268
    Cell Significance Index: 64.4100
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: 0.7839
    Cell Significance Index: 5.1000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.7122
    Cell Significance Index: 204.9300
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.6024
    Cell Significance Index: 13.1900
  • Cell Name: sensory neuron (CL0000101)
    Fold Change: 0.2621
    Cell Significance Index: 1.4900
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: 0.2381
    Cell Significance Index: 2.4800
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.2322
    Cell Significance Index: 3.9800
  • Cell Name: granule cell (CL0000120)
    Fold Change: 0.1792
    Cell Significance Index: 2.0400
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.1033
    Cell Significance Index: 2.8900
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.0666
    Cell Significance Index: 1.9000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.0640
    Cell Significance Index: 3.5900
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 0.0498
    Cell Significance Index: 0.5700
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.0468
    Cell Significance Index: 0.5800
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 0.0437
    Cell Significance Index: 0.2900
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0012
    Cell Significance Index: 0.1500
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0008
    Cell Significance Index: 0.1700
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0037
    Cell Significance Index: -6.9800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0054
    Cell Significance Index: -2.4100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0085
    Cell Significance Index: -6.2600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0089
    Cell Significance Index: -6.7200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0100
    Cell Significance Index: -5.6600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0105
    Cell Significance Index: -6.6400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0120
    Cell Significance Index: -6.5500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0124
    Cell Significance Index: -5.6400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0192
    Cell Significance Index: -6.8800
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0232
    Cell Significance Index: -1.6400
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.0274
    Cell Significance Index: -0.2600
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.0276
    Cell Significance Index: -0.6900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0311
    Cell Significance Index: -6.5500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0320
    Cell Significance Index: -3.7400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0325
    Cell Significance Index: -5.5500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0337
    Cell Significance Index: -6.6800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0343
    Cell Significance Index: -6.1800
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: -0.0354
    Cell Significance Index: -0.3500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0483
    Cell Significance Index: -5.9400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0486
    Cell Significance Index: -6.6700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0542
    Cell Significance Index: -6.2100
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0649
    Cell Significance Index: -6.6300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0748
    Cell Significance Index: -5.0300
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: -0.0754
    Cell Significance Index: -0.9200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0828
    Cell Significance Index: -4.3000
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.0864
    Cell Significance Index: -3.1700
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0893
    Cell Significance Index: -2.4300
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0901
    Cell Significance Index: -2.9500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0906
    Cell Significance Index: -5.5700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0980
    Cell Significance Index: -4.5700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0988
    Cell Significance Index: -2.5400
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.0991
    Cell Significance Index: -1.0800
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.1018
    Cell Significance Index: -4.1700
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: -0.1118
    Cell Significance Index: -1.6300
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: -0.1139
    Cell Significance Index: -0.8900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.1194
    Cell Significance Index: -5.4100
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1233
    Cell Significance Index: -4.3200
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.1286
    Cell Significance Index: -1.5000
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: -0.1333
    Cell Significance Index: -1.1000
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1334
    Cell Significance Index: -4.2500
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.1409
    Cell Significance Index: -2.9500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1411
    Cell Significance Index: -6.6300
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1585
    Cell Significance Index: -7.0100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1825
    Cell Significance Index: -6.9100
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.1826
    Cell Significance Index: -2.6200
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: -0.1837
    Cell Significance Index: -2.5400
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.2015
    Cell Significance Index: -5.3800
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.2037
    Cell Significance Index: -5.8400
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: -0.2043
    Cell Significance Index: -2.7800
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.2118
    Cell Significance Index: -2.8900
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: -0.2121
    Cell Significance Index: -2.7400
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: -0.2164
    Cell Significance Index: -2.7400
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.2173
    Cell Significance Index: -6.4000
  • Cell Name: amacrine cell (CL0000561)
    Fold Change: -0.2196
    Cell Significance Index: -2.7500
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.2225
    Cell Significance Index: -5.4300
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.2233
    Cell Significance Index: -5.6900
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.2235
    Cell Significance Index: -7.0700
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.2251
    Cell Significance Index: -3.8800
  • Cell Name: myoepithelial cell (CL0000185)
    Fold Change: -0.2310
    Cell Significance Index: -2.6200
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.2342
    Cell Significance Index: -5.4100
  • Cell Name: neuronal brush cell (CL0000555)
    Fold Change: -0.2359
    Cell Significance Index: -2.5600
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.2365
    Cell Significance Index: -4.8100
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.2389
    Cell Significance Index: -5.9600
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -0.2469
    Cell Significance Index: -3.5200
  • Cell Name: paneth cell (CL0000510)
    Fold Change: -0.2523
    Cell Significance Index: -2.6100
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.2530
    Cell Significance Index: -6.3100
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.2553
    Cell Significance Index: -6.8400
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.2585
    Cell Significance Index: -2.8100
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.2627
    Cell Significance Index: -6.3000
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: -0.2653
    Cell Significance Index: -2.8500
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.2658
    Cell Significance Index: -6.9900
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.2662
    Cell Significance Index: -3.3200
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: -0.2765
    Cell Significance Index: -2.0100
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: -0.2794
    Cell Significance Index: -3.0500
  • Cell Name: ionocyte (CL0005006)
    Fold Change: -0.2798
    Cell Significance Index: -2.9300
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: -0.2800
    Cell Significance Index: -3.0100
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: -0.2810
    Cell Significance Index: -2.6000
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: -0.2834
    Cell Significance Index: -3.9300
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.2955
    Cell Significance Index: -3.7300
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.2956
    Cell Significance Index: -7.1600
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.3004
    Cell Significance Index: -6.4900
  • Cell Name: glial cell (CL0000125)
    Fold Change: -0.3017
    Cell Significance Index: -3.3100
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.3098
    Cell Significance Index: -6.5800

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** NHLH2 is a member of the helix-loop-helix (HLH) family of transcription factors, which are characterized by their ability to bind to specific DNA sequences and regulate gene expression. The NHLH2 protein contains a basic helix-loop-helix (bHLH) motif, which is essential for its DNA-binding activity. The gene is highly expressed in cells involved in development, differentiation, and immune responses. Notably, NHLH2 is also expressed in cells of the central nervous system, suggesting its involvement in neural development and function. **Pathways and Functions** NHLH2 is involved in several key cellular pathways, including: 1. **Apoptotic process**: NHLH2 regulates apoptosis by interacting with other transcription factors and modulating the expression of pro-apoptotic and anti-apoptotic genes. 2. **Cell migration**: NHLH2 is involved in cell migration processes, including those involved in neural development and immune responses. 3. **Central nervous system development**: NHLH2 plays a role in the development of the central nervous system, including the formation of neural cells and the regulation of neural gene expression. 4. **Chromatin regulation**: NHLH2 interacts with chromatin-modifying enzymes to regulate chromatin structure and gene expression. 5. **Transcription regulation**: NHLH2 regulates transcription by interacting with RNA polymerase II and other transcription factors, influencing the expression of target genes. **Clinical Significance** Dysregulation of the NHLH2 gene has been implicated in several diseases and disorders, including: 1. **Neurodevelopmental disorders**: NHLH2 mutations have been associated with neurodevelopmental disorders, such as autism spectrum disorder and schizophrenia. 2. **Immune disorders**: NHLH2 is expressed in immune cells and plays a role in regulating immune responses, suggesting its involvement in immune disorders, such as autoimmune diseases. 3. **Reproductive disorders**: NHLH2 is involved in gonad development and ovulation, highlighting its potential role in reproductive disorders, such as infertility and polycystic ovary syndrome (PCOS). 4. **Cancer**: NHLH2 has been implicated in cancer development and progression, particularly in neural tumors and immune-related cancers. In conclusion, the NHLH2 gene is a critical regulator of cellular processes, including apoptosis, cell migration, and development. Its dysregulation has been implicated in various diseases and disorders, highlighting the importance of NHLH2 in maintaining tissue homeostasis and promoting overall health. Further research is needed to fully elucidate the functions and clinical significance of NHLH2.

Genular Protein ID: 738733355

Symbol: HEN2_HUMAN

Name: Helix-loop-helix protein 2

UniProtKB Accession Codes:

Q02577 Q5T1P6

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CORUM 1 CTD 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 5 Ensembl 2 ExpressionAtlas 1 GO 20 Gene3D 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIR 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 RNAct 1 RefSeq 2 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 1528853

Title: HEN1 and HEN2: a subgroup of basic helix-loop-helix genes that are coexpressed in a human neuroblastoma.

PubMed ID: 1528853

DOI: 10.1073/pnas.89.18.8492

PubMed ID: 1328219

Title: A comparative structural characterization of the human NSCL-1 and NSCL-2 genes. Two basic helix-loop-helix genes expressed in the developing nervous system.

PubMed ID: 1328219

DOI: 10.1016/s0021-9258(19)36798-5

PubMed ID: 9455484

Title: Characterization of cDNA clones in size-fractionated cDNA libraries from human brain.

PubMed ID: 9455484

DOI: 10.1093/dnares/4.5.345

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 35066646

Title: Inactivating NHLH2 variants cause idiopathic hypogonadotropic hypogonadism and obesity in humans.

PubMed ID: 35066646

DOI: 10.1007/s00439-021-02422-9

Sequence Information:

  • Length: 135
  • Mass: 15018
  • Checksum: 083730499F610AAE
  • Sequence:
    • MMLSPDQAAD SDHPSSAHSD PESLGGTDTK VLGSVSDLEP VEEAEGDGKG GSRAALYPHP 
QQLSREEKRR RRRATAKYRS AHATRERIRV EAFNLAFAEL RKLLPTLPPD KKLSKIEILR 
LAICYISYLN HVLDV

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.