NHLH2
entrez
4808
canonical
uniprot
Q02577
canonical
ensembl
ENSG00000177551
resolver
ensp
ENSP00000322087
resolver
ensp
ENSP00000358519
resolver
ensp
ENSP00000571362
resolver
ensp
ENSP00000604434
resolver
enst
ENST00000320238
resolver
enst
ENST00000369506
resolver
enst
ENST00000901303
resolver
enst
ENST00000934375
resolver
genesymbol
NHLH2
resolver
genesymbol_syn
BHLHA34
resolver
genesymbol_syn
HEN2
resolver
genesymbol_syn
KIAA0490
resolver
hgnc
HGNC:7818
resolver
uniprot
Q5T1P6
resolver
uniprot_entry
HEN2_HUMAN
resolver
uniprot_sec
Q5T1P6
resolver
amino_acid_sequence
MMLSPDQAADSDHPSSAHSDPESLGGTDTKVLGSVSDLEPVEEAEGDGKGGSRAALYPHPQQLSREEKRRRRRATAKYRSAHATRERIRVEAFNLAFAELRKLLPTLPPDKKLSKIEILRLAICYISYLNHVLDV
uniprot
proteins
disease_involvement
DISEASE: Hypogonadotropic hypogonadism 27 without anosmia (HH27) [MIM:619755]: A form of hypogonadotropic hypogonadism, a group of disorders characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone, and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). HH27 is an autosomal recessive normosmic form characterized by lack of pubertal development associated with onset of obesity in early adolescence. {ECO:0000269|PubMed:35066646}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcription factor which binds the E box motif 5'-CA[TC][AG]TG-3'. Involved in regulating energy expenditure, body mass, voluntary physical activity, mating behavior and reproductive longevity, acting through the hypothalamic-pituitary-gonadal axis. Acts as a transcriptional activator of target genes, including NDN, PCSK1, MC4R (By similarity). Is also a transcriptional activator of KISS1 (PubMed:35066646). May act centrally to regulate function of both white and brown adipose tissue. Together with NHLH1, required to maintain migration and survival of cells in the anterior extramural migration stream (aes), which forms the precerebellar nuclei. Also, in concert with NHLH1, may determine fate of gonadotropin releasing hormone-1 (GnRH-1) neurons. {ECO:0000250|UniProtKB:Q64221, ECO:0000269|PubMed:35066646}.
uniprot
proteins
mass_dalton
15018
uniprot
proteins
pubmed
1328219
uniprot
proteins
pubmed
1528853
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
35066646
uniprot
proteins
pubmed
9455484
uniprot
proteins
sequence_length
135
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981}.
uniprot
proteins