Q99929 (ASCL2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Achaete-scute homolog 2
Short name=ASH-2
Short name=hASH2

Alternative name(s):
Class A basic helix-loop-helix protein 45
Short name=bHLHa45
Mash2

Gene names

Name:	ASCL2
Synonyms:	BHLHA45, HASH2

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	193 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	AS-C proteins are involved in the determination of the neuronal precursors in the peripheral nervous system and the central nervous system.
Subunit structure	Efficient DNA binding requires dimerization with another bHLH protein.
Subcellular location	Nucleus Ref.2.
Tissue specificity	Expressed specifically in the extravillous trophoblasts of the developing placenta.
Sequence similarities	Contains 1 bHLH (basic helix-loop-helix) domain.

Ontologies

Keywords
Biological process	Differentiation Neurogenesis
Cellular component	Nucleus
Ligand	DNA-binding
Molecular function	Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	central nervous system development Non-traceable author statement. Source: UniProtKB negative regulation of Schwann cell proliferation Inferred from electronic annotation. Source: Compara negative regulation of transcription from RNA polymerase II promoter Inferred from direct assay PubMed 14561729. Source: UniProtKB peripheral nervous system development Non-traceable author statement. Source: UniProtKB response to hypoxia Inferred from expression pattern PubMed 14561729. Source: UniProtKB somatic stem cell maintenance Inferred from electronic annotation. Source: Compara spongiotrophoblast differentiation Inferred from electronic annotation. Source: Compara spongiotrophoblast layer development Inferred from expression pattern PubMed 12917334. Source: UniProtKB transcription, DNA-dependent Inferred from direct assay PubMed 14561729. Source: UniProtKB
Cellular_component	cytoplasm Inferred from direct assay PubMed 12917334. Source: UniProtKB nucleus Inferred from direct assay Ref.2. Source: UniProtKB
Molecular_function	E-box binding Inferred from direct assay PubMed 14561729. Source: UniProtKB sequence-specific DNA binding Inferred from electronic annotation. Source: Compara sequence-specific DNA binding transcription factor activity Non-traceable author statement Ref.4. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 193	193	Achaete-scute homolog 2		PRO_0000127130
Regions
	Domain	50 – 102	53	bHLH
	Compositional bias	36 – 39	4	Poly-Arg

Sequences

	Sequence		Length	Mass (Da)
	Q99929 [UniParc]. Last modified December 1, 2000. Version 2. Checksum: E59A71342E6D46C8	FASTA	193	20,185
	10 20 30 40 50 60 MDGGTLPRSA PPAPPVPVGC AARRRPASPE LLRCSRRRRP ATAETGGGAA AVARRNERER 70 80 90 100 110 120 NRVKLVNLGF QALRQHVPHG GASKKLSKVE TLRSAVEYIR ALQRLLAEHD AVRNALAGGL 130 140 150 160 170 180 RPQAVRPSAP RGPPGTTPVA ASPSRASSSP GRGGSSEPGS PRSAYSSDDS GCEGALSPAE 190 RELLDFSSWL GGY

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The human Achaete-Scute homologue 2 (ASCL2,HASH2) maps to chromosome 11p15.5, close to IGF2 and is expressed in extravillus trophoblasts." Alders M., Hodges M., Hadjantonakis A.-K., Postmus J., van Wijk I.J., Bliek J., de Meulemeester M., Westerveld A., Guillemot F., Oudejans C.B., Little P., Mannens M. Hum. Mol. Genet. 6:859-867(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]	"The human Achaete Scute homolog 2 gene contains two promotors, generating overlapping transcripts and encoding two proteins with different nuclear localization." Westerman B.A., Poutsma A., Looijenga L.H., Wouters D., van Wijk I.J., Oudejans C.B. Placenta 22:511-518(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], SUBCELLULAR LOCATION.
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[4]	"Genomic cloning and localization to chromosome 11p15.5 of the human achaete-scute homolog 2 (ASCL2)." Miyamoto T., Jinno Y., Sasaki T., Ikeda Y., Masuzaki H., Niikawa N., Ishikawa M. Cytogenet. Cell Genet. 73:312-314(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 34-101.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	U77629 Genomic DNA. Translation: AAB86993.1. AF442769 Genomic DNA. Translation: AAL35362.1. BC057801 mRNA. Translation: AAH57801.2. BC136561 mRNA. Translation: AAI36562.1. BC136567 mRNA. Translation: AAI36568.1. S82817 Genomic DNA. Translation: AAB39362.1.
IPI	IPI00019112.
RefSeq	NP_005161.1. NM_005170.2.
UniGene	Hs.152475.
3D structure databases
ProteinModelPortal	Q99929.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000332293.
PTM databases
PhosphoSite	Q99929.
Polymorphism databases
DMDM	12644476.
Proteomic databases
PaxDb	Q99929.
PRIDE	Q99929.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000331289; ENSP00000332293; ENSG00000183734.
GeneID	430.
KEGG	hsa:430.
UCSC	uc001lvu.3. human.
Organism-specific databases
CTD	430.
GeneCards	GC11M002289.
HGNC	HGNC:739. ASCL2.
MIM	601886. gene.
neXtProt	NX_Q99929.
PharmGKB	PA25039.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG243363.
HOGENOM	HOG000013056.
HOVERGEN	HBG050590.
InParanoid	Q99929.
KO	K09067.
OMA	ACPRESC.
OrthoDB	EOG42BX9T.
PhylomeDB	Q99929.
Gene expression databases
Bgee	Q99929.
CleanEx	HS_ASCL2.
Genevestigator	Q99929.
GermOnline	ENSG00000183734. Homo sapiens.
Family and domain databases
Gene3D	4.10.280.10. 1 hit.
InterPro	IPR015660. ASH. IPR011598. bHLH_dom. [Graphical view]
PANTHER	PTHR13935. PTHR13935. 1 hit.
Pfam	PF00010. HLH. 1 hit. [Graphical view]
SMART	SM00353. HLH. 1 hit. [Graphical view]
SUPFAM	SSF47459. HLH_basic. 1 hit.
PROSITE	PS50888. BHLH. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	430.
NextBio	1797.
SOURCE	Search...

Entry information

Entry name

ASCL2_HUMAN

Accession

Primary (citable) accession number: Q99929
Secondary accession number(s): Q6PEY9, Q9UM68

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	December 1, 2000
Last modified:	May 1, 2013
This is version 108 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.