LOCUS NP_005590 135 aa linear PRI 03-APR-2024
DEFINITION helix-loop-helix protein 2 [Homo sapiens].
ACCESSION NP_005590
VERSION NP_005590.1
DBSOURCE REFSEQ: accession NM_005599.3
KEYWORDS RefSeq; MANE Select.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (residues 1 to 135)
AUTHORS Madsen,A.T. and Good,D.J.
TITLE In Silico Examination of Single Nucleotide Missense Mutations in
NHLH2, a Gene Linked to Infertility and Obesity
JOURNAL Int J Mol Sci 24 (4), 3193 (2023)
PUBMED 36834605
REMARK GeneRIF: In Silico Examination of Single Nucleotide Missense
Mutations in NHLH2, a Gene Linked to Infertility and Obesity.
Publication Status: Online-Only
REFERENCE 2 (residues 1 to 135)
AUTHORS Topaloglu,A.K., Simsek,E., Kocher,M.A., Mammadova,J., Bober,E.,
Kotan,L.D., Turan,I., Celiloglu,C., Gurbuz,F., Yuksel,B. and
Good,D.J.
TITLE Inactivating NHLH2 variants cause idiopathic hypogonadotropic
hypogonadism and obesity in humans
JOURNAL Hum Genet 141 (2), 295-304 (2022)
PUBMED 35066646
REMARK GeneRIF: Inactivating NHLH2 variants cause idiopathic
hypogonadotropic hypogonadism and obesity in humans.
REFERENCE 3 (residues 1 to 135)
AUTHORS Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
TITLE A reference map of the human binary protein interactome
JOURNAL Nature 580 (7803), 402-408 (2020)
PUBMED 32296183
REFERENCE 4 (residues 1 to 135)
AUTHORS Afshar,H., Adelirad,F., Kowsari,A., Kalhor,N., Delbari,A.,
Najafipour,R., Foroughan,M., Bozorgmehr,A., Khamse,S.,
Nazaripanah,N. and Ohadi,M.
TITLE Natural Selection at the NHLH2 Core Promoter Exceptionally Long
CA-Repeat in Human and Disease-Only Genotypes in Late-Onset
Neurocognitive Disorder
JOURNAL Gerontology 66 (5), 514-522 (2020)
PUBMED 32877896
REMARK GeneRIF: Natural Selection at the NHLH2 Core Promoter Exceptionally
Long CA-Repeat in Human and Disease-Only Genotypes in Late-Onset
Neurocognitive Disorder.
REFERENCE 5 (residues 1 to 135)
AUTHORS Yin,Y., Morgunova,E., Jolma,A., Kaasinen,E., Sahu,B.,
Khund-Sayeed,S., Das,P.K., Kivioja,T., Dave,K., Zhong,F.,
Nitta,K.R., Taipale,M., Popov,A., Ginno,P.A., Domcke,S., Yan,J.,
Schubeler,D., Vinson,C. and Taipale,J.
TITLE Impact of cytosine methylation on DNA binding specificities of
human transcription factors
JOURNAL Science 356 (6337) (2017)
PUBMED 28473536
REFERENCE 6 (residues 1 to 135)
AUTHORS Good,D.J., Coyle,C.A. and Fox,D.L.
TITLE Nhlh2: a basic helix-loop-helix transcription factor controlling
physical activity
JOURNAL Exerc Sport Sci Rev 36 (4), 187-192 (2008)
PUBMED 18815487
REMARK GeneRIF: proposes the novel hypothesis that transcriptional
activity by Nhlh2 (NHLH2 in humans) controls either the ability or
the motivation for exercise [review]
Review article
REFERENCE 7 (residues 1 to 135)
AUTHORS Han,C., Liu,H., Liu,J., Yin,K., Xie,Y., Shen,X., Wang,Y., Yuan,J.,
Qiang,B., Liu,Y.J. and Peng,X.
TITLE Human Bex2 interacts with LMO2 and regulates the transcriptional
activity of a novel DNA-binding complex
JOURNAL Nucleic Acids Res 33 (20), 6555-6565 (2005)
PUBMED 16314316
REMARK Publication Status: Online-Only
REFERENCE 8 (residues 1 to 135)
AUTHORS Aoyama,M., Ozaki,T., Inuzuka,H., Tomotsune,D., Hirato,J.,
Okamoto,Y., Tokita,H., Ohira,M. and Nakagawara,A.
TITLE LMO3 interacts with neuronal transcription factor, HEN2, and acts
as an oncogene in neuroblastoma
JOURNAL Cancer Res 65 (11), 4587-4597 (2005)
PUBMED 15930276
REMARK GeneRIF: The deregulated expression of neuronal-specific LMO3 and
HEN2 contributes to the genesis and progression of human
neuroblastoma in a lineage-specific manner.
REFERENCE 9 (residues 1 to 135)
AUTHORS Lipkowitz,S., Gobel,V., Varterasian,M.L., Nakahara,K., Tchorz,K.
and Kirsch,I.R.
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
JOURNAL J Biol Chem 267 (29), 21065-21071 (1992)
PUBMED 1328219
REFERENCE 10 (residues 1 to 135)
AUTHORS Brown,L., Espinosa,R. 3rd, Le Beau,M.M., Siciliano,M.J. and Baer,R.
TITLE HEN1 and HEN2: a subgroup of basic helix-loop-helix genes that are
coexpressed in a human neuroblastoma
JOURNAL Proc Natl Acad Sci U S A 89 (18), 8492-8496 (1992)
PUBMED 1528853
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
DA608185.1, BC096360.1 and AL449264.18.
Transcript Variant: This variant (1) represents the longer
transcript.
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data because no single transcript was available
for the full length of the gene. The extent of this transcript is
supported by transcript alignments.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: M96740.1, SRR1660809.6404.1
[ECO:0000332]
##Evidence-Data-END##
##RefSeq-Attributes-START##
MANE Ensembl match :: ENST00000320238.3/ ENSP00000322087.3
RefSeq Select criteria :: based on conservation, expression,
longest protein
##RefSeq-Attributes-END##
FEATURES Location/Qualifiers
source 1..135
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="1"
/map="1p13.1"
Protein 1..135
/product="helix-loop-helix protein 2"
/note="HEN-2; NSCL-2; class A basic helix-loop-helix
protein 34"
/calculated_mol_wt=14887
Region 1..80
/region_name="Disordered.
/evidence=ECO:0000256|SAM:MobiDB-lite"
/note="propagated from UniProtKB/Swiss-Prot (Q02577.1)"
Region 63..135
/region_name="bHLH_TS_HEN2"
/note="basic helix-loop-helix (bHLH) domain found in
helix-loop-helix protein 2 (HEN-2) and similar proteins;
cd19702"
/db_xref="CDD:381545"
Site order(79,83,85..87,89,94,112..115)
/site_type="other"
/note="putative DNA binding site [nucleotide binding]"
/db_xref="CDD:381545"
Site order(92..93,96..97,99..100,116,119,123,125..126,130,
132..133)
/site_type="other"
/note="putative dimer interface [polypeptide binding]"
/db_xref="CDD:381545"
CDS 1..135
/gene="NHLH2"
/gene_synonym="bHLHa34; HEN2; HH27; NSCL2"
/coded_by="NM_005599.3:517..924"
/db_xref="CCDS:CCDS885.1"
/db_xref="GeneID:4808"
/db_xref="HGNC:HGNC:7818"
/db_xref="MIM:162361"
ORIGIN
1 mmlspdqaad sdhpssahsd peslggtdtk vlgsvsdlep veeaegdgkg gsraalyphp
61 qqlsreekrr rrratakyrs ahatrerirv eafnlafael rkllptlppd kklskieilr
121 laicyisyln hvldv
//