NHLH2 (nescient helix-loop-helix 2)

2003-02-01  

Identity

HGNC
NHLH2
LOCATION
1p13.1
LOCUSID
4808
ALIAS
HEN2,NSCL2,bHLHa34

Other Information

Locus ID:

NCBI: 4808
MIM: 162361
HGNC: 7818
Ensembl: ENSG00000177551

Variants:

dbSNP: 4808
ClinVar: 4808
TCGA: ENSG00000177551
COSMIC: NHLH2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000177551ENST00000320238Q02577
ENSG00000177551ENST00000320238A0A024R0I7
ENSG00000177551ENST00000369506Q02577
ENSG00000177551ENST00000369506A0A024R0I7
ENSG00000177551ENST00000429731A6PVY9

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
368346052023In Silico Examination of Single Nucleotide Missense Mutations in NHLH2, a Gene Linked to Infertility and Obesity.1
368346052023In Silico Examination of Single Nucleotide Missense Mutations in NHLH2, a Gene Linked to Infertility and Obesity.1
350666462022Inactivating NHLH2 variants cause idiopathic hypogonadotropic hypogonadism and obesity in humans.2
350666462022Inactivating NHLH2 variants cause idiopathic hypogonadotropic hypogonadism and obesity in humans.2
328778962020Natural Selection at the NHLH2 Core Promoter Exceptionally Long CA-Repeat in Human and Disease-Only Genotypes in Late-Onset Neurocognitive Disorder.7
328778962020Natural Selection at the NHLH2 Core Promoter Exceptionally Long CA-Repeat in Human and Disease-Only Genotypes in Late-Onset Neurocognitive Disorder.7
261968642015A Genetic Basis for Motivated Exercise.10
261968642015A Genetic Basis for Motivated Exercise.10
244861922014Leptin signaling regulates hypothalamic expression of nescient helix-loop-helix 2 (Nhlh2) through signal transducer and activator 3 (Stat3).10
244861922014Leptin signaling regulates hypothalamic expression of nescient helix-loop-helix 2 (Nhlh2) through signal transducer and activator 3 (Stat3).10
230262122013Two single nucleotide polymorphisms in the human nescient helix-loop-helix 2 (NHLH2) gene reduce mRNA stability and DNA binding.5
230262122013Two single nucleotide polymorphisms in the human nescient helix-loop-helix 2 (NHLH2) gene reduce mRNA stability and DNA binding.5
215732142011Oncogenic LMO3 collaborates with HEN2 to enhance neuroblastoma cell growth through transactivation of Mash1.30
215732142011Oncogenic LMO3 collaborates with HEN2 to enhance neuroblastoma cell growth through transactivation of Mash1.30
198984812009Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk.160

Citation

Dessen P

NHLH2 (nescient helix-loop-helix 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/41537