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helix-loop-helix protein 2 [Homo sapiens]

NCBI Reference Sequence: NP_005590.1

Identical Proteins FASTA Graphics 

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
//
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