ASCL2_HUMAN
ID ASCL2_HUMAN Reviewed; 193 AA.
AC Q99929; Q6PEY9; Q9UM68;
DT 01-NOV-1997, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2000, sequence version 2.
DT 03-AUG-2022, entry version 166.
DE RecName: Full=Achaete-scute homolog 2;
DE Short=ASH-2;
DE Short=hASH2;
DE AltName: Full=Class A basic helix-loop-helix protein 45;
DE Short=bHLHa45;
DE AltName: Full=Mash2;
GN Name=ASCL2; Synonyms=BHLHA45, HASH2;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=9175731; DOI=10.1093/hmg/6.6.859;
RA Alders M., Hodges M., Hadjantonakis A.-K., Postmus J., van Wijk I.J.,
RA Bliek J., de Meulemeester M., Westerveld A., Guillemot F., Oudejans C.B.,
RA Little P., Mannens M.;
RT "The human Achaete-Scute homologue 2 (ASCL2,HASH2) maps to chromosome
RT 11p15.5, close to IGF2 and is expressed in extravillus trophoblasts.";
RL Hum. Mol. Genet. 6:859-867(1997).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND SUBCELLULAR LOCATION.
RX PubMed=11440538; DOI=10.1053/plac.2001.0695;
RA Westerman B.A., Poutsma A., Looijenga L.H., Wouters D., van Wijk I.J.,
RA Oudejans C.B.;
RT "The human Achaete Scute homolog 2 gene contains two promotors, generating
RT overlapping transcripts and encoding two proteins with different nuclear
RT localization.";
RL Placenta 22:511-518(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 34-101.
RX PubMed=8751384; DOI=10.1159/000134364;
RA Miyamoto T., Jinno Y., Sasaki T., Ikeda Y., Masuzaki H., Niikawa N.,
RA Ishikawa M.;
RT "Genomic cloning and localization to chromosome 11p15.5 of the human
RT achaete-scute homolog 2 (ASCL2).";
RL Cytogenet. Cell Genet. 73:312-314(1996).
RN [5]
RP IDENTIFICATION IN A COMPLEX WITH HCFC1; MKI67; EMSY; MATR3; HSPA8; ZNF335;
RP CCAR2; ZNF335; RBBP5 AND WDR5.
RX PubMed=19131338; DOI=10.1074/jbc.m805872200;
RA Garapaty S., Xu C.F., Trojer P., Mahajan M.A., Neubert T.A., Samuels H.H.;
RT "Identification and characterization of a novel nuclear protein complex
RT involved in nuclear hormone receptor-mediated gene regulation.";
RL J. Biol. Chem. 284:7542-7552(2009).
RN [6]
RP INTERACTION WITH ZNF335.
RX PubMed=23178126; DOI=10.1016/j.cell.2012.10.043;
RA Yang Y.J., Baltus A.E., Mathew R.S., Murphy E.A., Evrony G.D.,
RA Gonzalez D.M., Wang E.P., Marshall-Walker C.A., Barry B.J., Murn J.,
RA Tatarakis A., Mahajan M.A., Samuels H.H., Shi Y., Golden J.A., Mahajnah M.,
RA Shenhav R., Walsh C.A.;
RT "Microcephaly gene links trithorax and REST/NRSF to control neural stem
RT cell proliferation and differentiation.";
RL Cell 151:1097-1112(2012).
CC -!- FUNCTION: AS-C proteins are involved in the determination of the
CC neuronal precursors in the peripheral nervous system and the central
CC nervous system.
CC -!- SUBUNIT: Efficient DNA binding requires dimerization with another bHLH
CC protein. Interacts with SETD1A. Part of a complex composed at least of
CC ASCL2, EMSY, HCFC1, HSPA8, CCAR2, MATR3, MKI67, RBBP5, TUBB2A, WDR5 and
CC ZNF335; this complex may have a histone H3-specific methyltransferase
CC activity. {ECO:0000269|PubMed:19131338, ECO:0000269|PubMed:23178126}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981,
CC ECO:0000269|PubMed:11440538}.
CC -!- TISSUE SPECIFICITY: Expressed specifically in the extravillous
CC trophoblasts of the developing placenta.
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DR EMBL; U77629; AAB86993.1; -; Genomic_DNA.
DR EMBL; AF442769; AAL35362.1; -; Genomic_DNA.
DR EMBL; BC057801; AAH57801.2; -; mRNA.
DR EMBL; BC136561; AAI36562.1; -; mRNA.
DR EMBL; BC136567; AAI36568.1; -; mRNA.
DR EMBL; S82817; AAB39362.1; -; Genomic_DNA.
DR CCDS; CCDS7732.1; -.
DR RefSeq; NP_005161.1; NM_005170.2.
DR AlphaFoldDB; Q99929; -.
DR SMR; Q99929; -.
DR BioGRID; 106922; 8.
DR STRING; 9606.ENSP00000332293; -.
DR iPTMnet; Q99929; -.
DR PhosphoSitePlus; Q99929; -.
DR BioMuta; ASCL2; -.
DR DMDM; 12644476; -.
DR jPOST; Q99929; -.
DR MassIVE; Q99929; -.
DR PaxDb; Q99929; -.
DR PeptideAtlas; Q99929; -.
DR PRIDE; Q99929; -.
DR ProteomicsDB; 78523; -.
DR Antibodypedia; 42100; 222 antibodies from 29 providers.
DR DNASU; 430; -.
DR Ensembl; ENST00000331289.5; ENSP00000332293.4; ENSG00000183734.5.
DR GeneID; 430; -.
DR KEGG; hsa:430; -.
DR MANE-Select; ENST00000331289.5; ENSP00000332293.4; NM_005170.3; NP_005161.1.
DR UCSC; uc001lvu.4; human.
DR CTD; 430; -.
DR DisGeNET; 430; -.
DR GeneCards; ASCL2; -.
DR HGNC; HGNC:739; ASCL2.
DR HPA; ENSG00000183734; Tissue enhanced (intestine, salivary gland, skin).
DR MIM; 601886; gene.
DR neXtProt; NX_Q99929; -.
DR OpenTargets; ENSG00000183734; -.
DR PharmGKB; PA25039; -.
DR VEuPathDB; HostDB:ENSG00000183734; -.
DR eggNOG; KOG4029; Eukaryota.
DR GeneTree; ENSGT00940000163041; -.
DR HOGENOM; CLU_063523_2_0_1; -.
DR InParanoid; Q99929; -.
DR OMA; ACPRESC; -.
DR OrthoDB; 1131543at2759; -.
DR PhylomeDB; Q99929; -.
DR TreeFam; TF322889; -.
DR PathwayCommons; Q99929; -.
DR SignaLink; Q99929; -.
DR BioGRID-ORCS; 430; 18 hits in 1090 CRISPR screens.
DR ChiTaRS; ASCL2; human.
DR GeneWiki; ASCL2; -.
DR GenomeRNAi; 430; -.
DR Pharos; Q99929; Tbio.
DR PRO; PR:Q99929; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q99929; protein.
DR Bgee; ENSG00000183734; Expressed in granulocyte and 125 other tissues.
DR Genevisible; Q99929; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0090575; C:RNA polymerase II transcription regulator complex; IBA:GO_Central.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0001227; F:DNA-binding transcription repressor activity, RNA polymerase II-specific; IDA:NTNU_SB.
DR GO; GO:0070888; F:E-box binding; IDA:UniProtKB.
DR GO; GO:0046983; F:protein dimerization activity; IEA:InterPro.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IDA:NTNU_SB.
DR GO; GO:0000977; F:RNA polymerase II transcription regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0010626; P:negative regulation of Schwann cell proliferation; IEA:Ensembl.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IDA:UniProtKB.
DR GO; GO:0030182; P:neuron differentiation; IBA:GO_Central.
DR GO; GO:0001890; P:placenta development; NAS:UniProtKB.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0050767; P:regulation of neurogenesis; IBA:GO_Central.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0001666; P:response to hypoxia; IEP:UniProtKB.
DR GO; GO:0007423; P:sensory organ development; IBA:GO_Central.
DR GO; GO:0035019; P:somatic stem cell population maintenance; IEA:Ensembl.
DR GO; GO:0060708; P:spongiotrophoblast differentiation; IEA:Ensembl.
DR GO; GO:0060712; P:spongiotrophoblast layer development; IEP:UniProtKB.
DR Gene3D; 4.10.280.10; -; 1.
DR InterPro; IPR011598; bHLH_dom.
DR InterPro; IPR036638; HLH_DNA-bd_sf.
DR InterPro; IPR015660; MASH1/Ascl1a-like.
DR PANTHER; PTHR13935; PTHR13935; 1.
DR Pfam; PF00010; HLH; 1.
DR SMART; SM00353; HLH; 1.
DR SUPFAM; SSF47459; SSF47459; 1.
DR PROSITE; PS50888; BHLH; 1.
PE 1: Evidence at protein level;
KW Developmental protein; Differentiation; DNA-binding; Neurogenesis; Nucleus;
KW Reference proteome.
FT CHAIN 1..193
FT /note="Achaete-scute homolog 2"
FT /id="PRO_0000127130"
FT DOMAIN 50..102
FT /note="bHLH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00981"
FT REGION 1..27
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 37..56
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 118..177
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 140..167
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 193 AA; 20185 MW; E59A71342E6D46C8 CRC64;
MDGGTLPRSA PPAPPVPVGC AARRRPASPE LLRCSRRRRP ATAETGGGAA AVARRNERER
NRVKLVNLGF QALRQHVPHG GASKKLSKVE TLRSAVEYIR ALQRLLAEHD AVRNALAGGL
RPQAVRPSAP RGPPGTTPVA ASPSRASSSP GRGGSSEPGS PRSAYSSDDS GCEGALSPAE
RELLDFSSWL GGY
