LOCUS       NM_152414               3263 bp    mRNA    linear   PRI 19-AUG-2024
DEFINITION  Homo sapiens basic helix-loop-helix family member e22 (BHLHE22),
            mRNA.
ACCESSION   NM_152414
VERSION     NM_152414.5
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  (bases 1 to 3263)
  AUTHORS   Yin,C., Wang,M., Wang,Y., Lin,Q., Lin,K., Du,H., Lang,C., Dai,Y.
            and Peng,X.
  TITLE     BHLHE22 drives the immunosuppressive bone tumor microenvironment
            and associated bone metastasis in prostate cancer
  JOURNAL   J Immunother Cancer 11 (3) (2023)
   PUBMED   36941015
  REMARK    GeneRIF: BHLHE22 drives the immunosuppressive bone tumor
            microenvironment and associated bone metastasis in prostate cancer.
REFERENCE   2  (bases 1 to 3263)
  AUTHORS   Darmawi, Chen,L.Y., Su,P.H., Liew,P.L., Wang,H.C., Weng,Y.C.,
            Huang,R.L. and Lai,H.C.
  TITLE     BHLHE22 Expression Is Associated with a Proinflammatory Immune
            Microenvironment and Confers a Favorable Prognosis in Endometrial
            Cancer
  JOURNAL   Int J Mol Sci 23 (13), 7158 (2022)
   PUBMED   35806162
  REMARK    GeneRIF: BHLHE22 Expression Is Associated with a Proinflammatory
            Immune Microenvironment and Confers a Favorable Prognosis in
            Endometrial Cancer.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3263)
  AUTHORS   Hupalo,D., Forsberg,C.W., Goldberg,J., Kremen,W.S., Lyons,M.J.,
            Soltis,A.R., Viollet,C., Ursano,R.J., Stein,M.B., Franz,C.E.,
            Sun,Y.V., Vaccarino,V., Smith,N.L., Dalgard,C.L., Wilkerson,M.D.
            and Pollard,H.B.
  TITLE     Rare variant association study of veteran twin whole-genomes links
            severe depression with a nonsynonymous change in the neuronal gene
            BHLHE22
  JOURNAL   World J Biol Psychiatry 23 (4), 295-306 (2022)
   PUBMED   34664540
  REMARK    GeneRIF: Rare variant association study of veteran twin
            whole-genomes links severe depression with a nonsynonymous change
            in the neuronal gene BHLHE22.
REFERENCE   4  (bases 1 to 3263)
  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   5  (bases 1 to 3263)
  AUTHORS   Vaquerizas,J.M., Kummerfeld,S.K., Teichmann,S.A. and Luscombe,N.M.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   6  (bases 1 to 3263)
  AUTHORS   Stevens,J.D., Roalson,E.H. and Skinner,M.K.
  TITLE     Phylogenetic and expression analysis of the basic helix-loop-helix
            transcription factor gene family: genomic approach to cellular
            differentiation
  JOURNAL   Differentiation 76 (9), 1006-1022 (2008)
   PUBMED   18557763
REFERENCE   7  (bases 1 to 3263)
  AUTHORS   McLellan,A.S., Langlands,K. and Kealey,T.
  TITLE     Exhaustive identification of human class II basic helix-loop-helix
            proteins by virtual library screening
  JOURNAL   Mech Dev 119 Suppl 1, S285-S291 (2002)
   PUBMED   14516699
REFERENCE   8  (bases 1 to 3263)
  AUTHORS   Xu,Z.P., Dutra,A., Stellrecht,C.M., Wu,C., Piatigorsky,J. and
            Saunders,G.F.
  TITLE     Functional and structural characterization of the human gene
            BHLHB5, encoding a basic helix-loop-helix transcription factor
  JOURNAL   Genomics 80 (3), 311-318 (2002)
   PUBMED   12213201
  REMARK    GeneRIF: Segregates with Duane syndrome.  Brain-specific expression
            with the highest abundance in the cerebellum.
REFERENCE   9  (bases 1 to 3263)
  AUTHORS   Margolis,R.L., Abraham,M.R., Gatchell,S.B., Li,S.H., Kidwai,A.S.,
            Breschel,T.S., Stine,O.C., Callahan,C., McInnis,M.G. and Ross,C.A.
  TITLE     cDNAs with long CAG trinucleotide repeats from human brain
  JOURNAL   Hum Genet 100 (1), 114-122 (1997)
   PUBMED   9225980
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AA927689.1, AK293979.1,
            BK000273.1, AK091333.1 and AC090136.6.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_152414.4.
            
            Summary: This gene encodes a protein that belongs to the basic
            helix-loop-helix (bHLH) family of transcription factors that
            regulate cell fate determination, proliferation, and
            differentiation. A similar protein in mouse is required for the
            development of the dorsal cochlear nuclei, and is thought to play a
            role in in the differentiation of neurons involved in sensory
            input. The mouse protein also functions in retinogenesis. [provided
            by RefSeq, Oct 2016].
            
            ##Evidence-Data-START##
            Transcript is intronless :: BK000273.1, U80755.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000321870.3/ ENSP00000318799.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 AA927689.1         256-257             c
            3-183               AK293979.1         2-182
            184-1572            BK000273.1         1-1389
            1573-1898           AK091333.1         775-1100
            1899-1899           AC090136.6         15721-15721         c
            1900-3046           AK091333.1         1101-2247
            3047-3263           AK091333.1         2249-2465
FEATURES             Location/Qualifiers
     source          1..3263
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q12.3"
     gene            1..3263
                     /gene="BHLHE22"
                     /gene_synonym="Beta3; Beta3a; BHLHB5; CAGL85; TNRC20"
                     /note="basic helix-loop-helix family member e22"
                     /db_xref="GeneID:27319"
                     /db_xref="HGNC:HGNC:11963"
                     /db_xref="MIM:613483"
     exon            1..3263
                     /gene="BHLHE22"
                     /gene_synonym="Beta3; Beta3a; BHLHB5; CAGL85; TNRC20"
                     /inference="alignment:Splign:2.1.0"
     CDS             427..1572
                     /gene="BHLHE22"
                     /gene_synonym="Beta3; Beta3a; BHLHB5; CAGL85; TNRC20"
                     /note="trinucleotide repeat containing 20; basic
                     helix-loop-helix domain containing, class B, 5; class B
                     basic helix-loop-helix protein 5"
                     /codon_start=1
                     /product="class E basic helix-loop-helix protein 22"
                     /protein_id="NP_689627.1"
                     /db_xref="CCDS:CCDS6179.1"
                     /db_xref="GeneID:27319"
                     /db_xref="HGNC:HGNC:11963"
                     /db_xref="MIM:613483"
                     /translation="MERGMHLGAAAAGEDDLFLHKSLSASTSKRLEAAFRSTPPGMDL
                     SLAPPPRERPASSSSSPLGCFEPADPEGAGLLLPPPGGGGGGSAGSGGGGGGGVGVPG
                     LLVGSAGVGGDPSLSSLPAGAALCLKYGESASRGSVAESSGGEQSPDDDSDGRCELVL
                     RAGVADPRASPGAGGGGAKAAEGCSNAHLHGGASVPPGGLGGGGGGGSSSGSSGGGGG
                     SGSGSGGSSSSSSSSSKKSKEQKALRLNINARERRRMHDLNDALDELRAVIPYAHSPS
                     VRKLSKIATLLLAKNYILMQAQALEEMRRLVAYLNQGQAISAASLPSSAAAAAAAAAL
                     HPALGAYEQAAGYPFSAGLPPAASCPEKCALFNSVSSSLCKQCTEKP"
     regulatory      2604..2609
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BHLHE22"
                     /gene_synonym="Beta3; Beta3a; BHLHB5; CAGL85; TNRC20"
                     /note="hexamer: AATAAA"
     polyA_site      2626
                     /gene="BHLHE22"
                     /gene_synonym="Beta3; Beta3a; BHLHB5; CAGL85; TNRC20"
                     /note="major polyA site"
     regulatory      3244..3249
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BHLHE22"
                     /gene_synonym="Beta3; Beta3a; BHLHB5; CAGL85; TNRC20"
                     /note="hexamer: ATTAAA"
     polyA_site      3263
                     /gene="BHLHE22"
                     /gene_synonym="Beta3; Beta3a; BHLHB5; CAGL85; TNRC20"
ORIGIN      
        1 gtaaaagact cccccgtctg tggcggcggc tgtttgatgg gtccggaaat ctcttgaagg
       61 tgaatccaag caagataaac ggtgcggaga ggaggcgcgg ggctgggctc agagcggcgg
      121 cggcggcggc tccactccct ccgcgcccac cctcccacca tgcggggccg cggcccatgg
      181 tgagccccag cagccagcac catcggctgg agacgaagaa gaagaagaag aggaggcggc
      241 gagcgcgggg gaaggcgaaa aagaaaaaga aagaagggga gagggctccc ggcagcacca
      301 ggaccgacgc gcgcaccagc tccggagccc agctcgcgcg cgtctgtggg gccgcctgac
      361 tccggggccg aggcggcggc ggcggcagcg ggcgcggcgg cccgggctgc gcgccggcgc
      421 gggaccatgg agcgcgggat gcacctcggt gcagcggccg ccggcgagga cgacctcttc
      481 ctgcacaaga gcctgagcgc ctccacctcc aagcgcttgg aagcggcttt ccgctccacg
      541 cccccgggca tggacctgtc cctggcgccg ccgcctcggg aacgcccggc gtcctcctcc
      601 tcgtcgcccc tgggctgctt cgagccggct gaccccgagg gggcagggct gctgttgccg
      661 ccgcctggag gaggcggcgg cggcagcgcg ggaagtggcg gcggcggcgg cggcggggtg
      721 ggtgtccccg ggctgctagt aggttcagcc ggcgttgggg gcgaccctag cctaagcagc
      781 ctgccggccg gggccgccct ttgcctcaag tacggcgaaa gcgcgagccg gggctcggtg
      841 gccgagagca gcggcggcga gcagagcccc gacgacgaca gcgacggtcg ctgcgagctc
      901 gtgctgcggg ccggagtagc cgacccgcgg gcctccccgg gagcgggagg tggtggcgcg
      961 aaggcagccg agggctgctc caatgcccac ctccacggcg gcgccagcgt ccccccgggg
     1021 ggcctgggcg gcggcggcgg cgggggtagc agcagcggta gcagtggcgg cggtggcggt
     1081 agcggtagcg gcagcggcgg cagcagcagc agcagcagca gcagcagcaa gaaatccaaa
     1141 gagcaaaagg cgctgcggct taacatcaat gcccgagagc gccggcggat gcacgacctg
     1201 aacgacgcgc tggacgagct gcgcgcggtg atcccctacg cgcacagccc ctcggtgcga
     1261 aagctctcca agatcgccac gctgctgctc gccaagaact acatcctcat gcaggcgcag
     1321 gccctggagg agatgcggcg cctagtcgcc tacctcaacc agggccaggc catctcggct
     1381 gcctccctgc ccagctcggc ggctgcagcg gcagcagctg ctgccctgca cccggcgctc
     1441 ggcgcctacg agcaggcagc cggctacccg ttcagcgccg gactgccccc ggctgcctcc
     1501 tgcccggaga agtgcgccct gtttaacagc gtctcctcca gcctctgcaa acagtgcacg
     1561 gagaagcctt aaacacaccc ccgaaaaaca caagaccgac ccaaaatcta gaggaaagcg
     1621 aaaagctgct ccccaccccc tttattttgg tcctctcgta gttgtgaaac acttgcagag
     1681 caaacaaagc agaggcaaga actgaggaga agtatcagag acaaacggga cttttagcct
     1741 tgacatcccc agaatctcgg tctttggggt ggggagggag ggaggaggga ggtggagttg
     1801 ggatggagta tggatgtctt ttttttctca gaaaagtggc aactttggtg gcagcctaga
     1861 ccgcgaggaa gtggaatctt ccttaaaggt gaaacataag ttgagaagta gtgcttggtt
     1921 attaagcctg gagagtgttt gaatggcaaa atactaatcc tactaataat tgtggatttg
     1981 gctagtgctg agggggagag gaggggttag gggttgggta gcatgagaga tggaatattc
     2041 attcagacaa atcagaaagg gcacttgaaa ataaattttg attctgagcc aggagaaaaa
     2101 cttgaaatgt tgacttaagt gagggggaaa taaaacccag agagagagag agagcgagag
     2161 agagagacat gttactatga aagacttgta ttttttattg tctctgaact ttaatcctgt
     2221 gaaaatgctc aaagttttgg cgagagtgat ataaaaaaac tgactgtggc tgaaagaatt
     2281 gcatttaaaa atatttatgt gcaccttgtt actttctact ctgcaatgat gtattaacaa
     2341 ttcatggtat ttatttgtta ttcttcaatg acccttccac atcaacagta tttatcatgt
     2401 gttaaagtca tgggtcttat gtgcagattt ttttaatgcc tctaaaattg ttttatagat
     2461 tacttatgct gtgtgccaag tgtttaaagg tttatttgcc aacaagtatg aagagaaata
     2521 ttgatgtatc tgagctgctt aggtttatga aaggtcacct ggatattttc agttgcatca
     2581 tccctgtatt taaattgagc tttaataaat tgcttcagtc caaaaattac aggaaaggtg
     2641 tattcttaat tgatgaatga attgatctct tttttgaaag gggactcctt tacattccaa
     2701 aagggaaaaa catcacagca atagttgcta tacgtaagaa catgctaagc aaatattttt
     2761 ccaggctgtg ctgtgcattt ttaaaaggtc taatttaatt gcttttaata tatatgtaca
     2821 tatatgttat tttaactgtg gagaattatt taagttaaaa gactggtttg atttgcctat
     2881 ggtgtgaaat cctttgttat ttttctaaaa aaataaaatt taaaaagaaa gaaaactaag
     2941 gaagaacaag aagctattta cccaaagtga gctttcagtt ttagttttgc atggctgttt
     3001 gactgccttt ccgccctatg aaaatcaaga aaatcttttt taaaaatgga gtcctgctat
     3061 tttccactcc ttgcagataa tacaaattca gtttgtcagg ttggatggtg agttgggagc
     3121 tgtgatggat ctgttggcgg gttttggatg tgtaaagaat gatatatata ttaaataggt
     3181 caatcagact atgacagcta tgtacgacca tttgtatgtg tatctatgtc agaaagaatc
     3241 tttattaaaa tattttgatc aaa
//
