• Gene id: 430

Gene Summary

• Gene Symbol: ASCL2   Gene   UCSC   Ensembl
• Aliases: ASH2, HASH2, MASH2, bHLHa45
• Gene name: achaete-scute family bHLH transcription factor 2
• Alternate names: achaete-scute homolog 2, ASH-2, achaete-scute complex homolog 2, achaete-scute complex-like 2, class A basic helix-loop-helix protein 45, mammalian achaete/scute homologue 2,
• Gene location: 11p15.5 (826128: 784956)     Exons: 5     NC_000004.12
• Gene summary(Entrez): This gene is a member of the basic helix-loop-helix (BHLH) family of transcription factors. It activates transcription by binding to the E box (5'-CANNTG-3'). Dimerization with other BHLH proteins is required for efficient DNA binding. Involved in the det
• OMIM: 601886

SNPs

rs4919686

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.102832492A>C
NC_000010.10   g.104592249A>C
NG_007955.1   g.10042T>G|SEQ=[A/C]|GENE=CYP17A1
CYP17A1-AS1   102724307

Protein Summary

• Protein general information: Q99929  
  • Name: Achaete scute homolog 2 (ASH 2) (hASH2) (Class A basic helix loop helix protein 45) (bHLHa45) (Mash2)
  • Length: 193  
  • Mass: 20185
  • Tissue specificity: Expressed specifically in the extravillous trophoblasts of the developing placenta.
• Sequence:

  MDGGTLPRSAPPAPPVPVGCAARRRPASPELLRCSRRRRPATAETGGGAAAVARRNERERNRVKLVNLGFQALRQ
  HVPHGGASKKLSKVETLRSAVEYIRALQRLLAEHDAVRNALAGGLRPQAVRPSAPRGPPGTTPVAASPSRASSSP
  GRGGSSEPGSPRSAYSSDDSGCEGALSPAERELLDFSSWLGGY

• Structural information:
  • Protein Domains: (50..10-)
    (/note="bHLH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00981"-)
  • Interpro: IPR011598  IPR036638  IPR015660  
  • Prosite: PS50888
  • CDD: cd00083
  • STRING: ENSP00000332293
• Other Databases: GeneCards:  ASCL2  Malacards:  ASCL2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0003700	DNA-binding transcription factor activity	IBA	contributes to
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0090575	RNA polymerase II transcription regulator complex	IBA	cellular component
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0007423	sensory organ development	IBA	biological process
GO:0008134	transcription factor binding	IBA	molecular function
GO:0030182	neuron differentiation	IBA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0050767	regulation of neurogenesis	IBA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0001890	placenta development	IEA	biological process
GO:0010626	negative regulation of Schwann cell proliferation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0060708	spongiotrophoblast differentiation	IEA	biological process
GO:0035019	somatic stem cell population maintenance	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0001701	in utero embryonic development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0070888	E-box binding	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0060712	spongiotrophoblast layer development	IEP	biological process
GO:0001890	placenta development	NAS	biological process
GO:0001666	response to hypoxia	IEP	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq