Reviewed, UniProtKB/Swiss-Prot Q99929 (ASCL2_HUMAN)

Names and origin

Protein names

Recommended name:
    Achaete-scute homolog 2
Alternative name(s):
    Mash2
    HASH2

Gene names

Name:

ASCL2

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	193 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
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 basic helix-loop-helix (bHLH) domain.

Ontologies

Keywords
Biological process	Differentiation Neurogenesis
Cellular component	Nucleus
Ligand	DNA-binding
Molecular function	Developmental protein
Gene Ontology (GO)
Biological process	cell differentiation Inferred from electronic annotation. Source: UniProtKB-KW central nervous system development Non-traceable author statement. Source: UniProtKB peripheral nervous system development Non-traceable author statement. Source: UniProtKB regulation of transcription, DNA-dependent Ref.4 Non-traceable author statement. Source: UniProtKB
Cellular component	nucleus Ref.4 Non-traceable author statement. Source: UniProtKB
Molecular function	transcription factor activity Ref.4 Non-traceable author statement. 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	64 – 103	40	Helix-loop-helix motif
	DNA binding	53 – 63	11	Basic motif
	Compositional bias	36 – 39	4	Poly-Arg

Sequences

	Sequence		Length	Mass (Da)
	Q99929-1 [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: 9175731] [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: 11440538] [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: 15489334] [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: 8751384] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 34-101.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	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.
UniGene	Hs.152475
3D structure databases
ModBase	Search...
Genome annotation databases
Ensembl	ENSG00000183734. Homo sapiens. [Contig view]
GeneID	430.
KEGG	hsa:430.
Organism-specific databases
GeneCards	GC11M002246.
H-InvDB	HIX0035969.
HGNC	HGNC:739. ASCL2.
MIM	601886. gene.
PharmGKB	PA25039.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q99929.
OMA	Q99929. EAREGAN.
Gene expression databases
Bgee	Q99929.
CleanEx	HS_ASCL2.
GermOnline	ENSG00000183734. Homo sapiens.
Family and domain databases
InterPro	IPR015660. ASH. IPR001092. HLH_basic. IPR011598. HLH_DNA_bd. [Graphical view]
Gene3D	G3DSA:4.10.280.10. HLH_DNA_bd. 1 hit.
PANTHER	PTHR13935. ASH. 1 hit.
Pfam	PF00010. HLH. 1 hit. [Graphical view]
SMART	SM00353. HLH. 1 hit. [Graphical view]
PROSITE	PS50888. HLH. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
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:	June 16, 2009
This is version 70 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)