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)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: progenitor cell (CL0011026)
    Fold Change: 4.72
    Marker Score: 30409
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 2.24
    Marker Score: 2256
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 2.14
    Marker Score: 8267
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 1.58
    Marker Score: 8266
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 1.27
    Marker Score: 1196
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 1.2
    Marker Score: 1449
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 1.16
    Marker Score: 1292
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.12
    Marker Score: 7429
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71828
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48053
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2413
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.95
    Marker Score: 1923
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5353
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2743
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5289
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.85
    Marker Score: 1380
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.82
    Marker Score: 12754
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 712
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.78
    Marker Score: 403
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.73
    Marker Score: 426
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.7
    Marker Score: 1327
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.69
    Marker Score: 1104
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.64
    Marker Score: 294
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.63
    Marker Score: 503
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.55
    Marker Score: 5642
  • Cell Name: T cell (CL0000084)
    Fold Change: 0.54
    Marker Score: 938
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.49
    Marker Score: 2936.5
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.48
    Marker Score: 455
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.47
    Marker Score: 282
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.42
    Marker Score: 255
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.42
    Marker Score: 445
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 0.4
    Marker Score: 2144
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.39
    Marker Score: 188
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 0.37
    Marker Score: 209
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.36
    Marker Score: 738.5
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.35
    Marker Score: 3037.5
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.33
    Marker Score: 145
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 0.32
    Marker Score: 2735
  • Cell Name: neuronal brush cell (CL0000555)
    Fold Change: 0.32
    Marker Score: 1075
  • Cell Name: granule cell (CL0000120)
    Fold Change: 0.32
    Marker Score: 2376
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.28
    Marker Score: 1147
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.26
    Marker Score: 450
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 0.25
    Marker Score: 585
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.25
    Marker Score: 147.5
  • Cell Name: CNS interneuron (CL0000402)
    Fold Change: 0.24
    Marker Score: 114
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.23
    Marker Score: 66
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.21
    Marker Score: 862
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 0.21
    Marker Score: 174
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 0.2
    Marker Score: 935
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.2
    Marker Score: 285
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.2
    Marker Score: 241.5
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.19
    Marker Score: 68
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.19
    Marker Score: 457
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.18
    Marker Score: 58
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 0.18
    Marker Score: 1567
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: 0.18
    Marker Score: 67
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.18
    Marker Score: 153
  • Cell Name: glial cell (CL0000125)
    Fold Change: 0.17
    Marker Score: 191
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.17
    Marker Score: 189
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.17
    Marker Score: 64
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.16
    Marker Score: 66
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.14
    Marker Score: 75
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.14
    Marker Score: 4752
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.14
    Marker Score: 38
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.14
    Marker Score: 388.5
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 0.14
    Marker Score: 79
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.13
    Marker Score: 277
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.13
    Marker Score: 115
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.12
    Marker Score: 1183
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 0.12
    Marker Score: 80
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.12
    Marker Score: 52
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.11
    Marker Score: 143
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.11
    Marker Score: 312
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.11
    Marker Score: 139
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 0.1
    Marker Score: 52
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.1
    Marker Score: 35
  • Cell Name: enteroendocrine cell (CL0000164)
    Fold Change: 0.1
    Marker Score: 50
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.09
    Marker Score: 93.5
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.09
    Marker Score: 91
  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: 0.09
    Marker Score: 264
  • Cell Name: ganglion interneuron (CL0000397)
    Fold Change: 0.09
    Marker Score: 27
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 0.09
    Marker Score: 692
  • Cell Name: late promyelocyte (CL0002151)
    Fold Change: 0.09
    Marker Score: 22
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: 0.09
    Marker Score: 34
  • Cell Name: epithelial cell of thymus (CL0002293)
    Fold Change: 0.09
    Marker Score: 28
  • Cell Name: epithelial cell of stratum germinativum of esophagus (CL1000447)
    Fold Change: 0.09
    Marker Score: 21
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.08
    Marker Score: 131
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.08
    Marker Score: 64
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 0.08
    Marker Score: 134
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 0.07
    Marker Score: 21
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.06
    Marker Score: 16
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: 0.06
    Marker Score: 93
  • Cell Name: transitional stage B cell (CL0000818)
    Fold Change: 0.06
    Marker Score: 22
  • Cell Name: innate lymphoid cell (CL0001065)
    Fold Change: 0.06
    Marker Score: 22
  • Cell Name: leukocyte (CL0000738)
    Fold Change: 0.06
    Marker Score: 35
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.06
    Marker Score: 19
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.06
    Marker Score: 24
  • Cell Name: type G enteroendocrine cell (CL0000508)
    Fold Change: 0.06
    Marker Score: 20
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.06
    Marker Score: 15

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Other Information

**Key characteristics:** * The NHLH2 gene is located on chromosome 19q21.1. * The protein is a protein of 310 amino acids. * The protein is a member of the HEL2 family of proteins. * The protein is involved in the regulation of transcription by RNA polymerase II. **Pathways and functions:** * The NHLH2 protein is involved in the apoptotic process, cell migration in the hindbrain, and central nervous system development. * The protein is also involved in chromatin remodeling, DNA-binding transcription activator activity, and rna polymerase ii-specific transcription. * The protein is involved in the development of the hypothalamus, female reproductive tract, and peripheral nervous system. * The protein is also involved in the regulation of the female reproductive cycle. **Clinical significance:** * Mutations in the NHLH2 gene have been linked to a number of human diseases, including autism, schizophrenia, and infertility. * The NHLH2 gene is a potential target for the treatment of these diseases.

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 Genevisible 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 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 RNAct 1 RefSeq 2 SAM 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 UCSC 1 UniProtKB 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. For the full schema, download it here.