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Protein

Achaete-scute homolog 2

Gene

ASCL2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

AS-C proteins are involved in the determination of the neuronal precursors in the peripheral nervous system and the central nervous system.

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, DNA-binding
Biological processDifferentiation, Neurogenesis

Names & Taxonomyi

Protein namesi
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 namesi
Name:ASCL2
Synonyms:BHLHA45, HASH2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000183734.4
HGNCiHGNC:739 ASCL2
MIMi601886 gene
neXtProtiNX_Q99929

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi430
OpenTargetsiENSG00000183734
PharmGKBiPA25039

Polymorphism and mutation databases

BioMutaiASCL2
DMDMi12644476

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001271301 – 193Achaete-scute homolog 2Add BLAST193

Proteomic databases

PaxDbiQ99929
PeptideAtlasiQ99929
PRIDEiQ99929
ProteomicsDBi78523

PTM databases

iPTMnetiQ99929
PhosphoSitePlusiQ99929

Expressioni

Tissue specificityi

Expressed specifically in the extravillous trophoblasts of the developing placenta.

Gene expression databases

BgeeiENSG00000183734 Expressed in 116 organ(s), highest expression level in parotid gland
CleanExiHS_ASCL2
GenevisibleiQ99929 HS

Interactioni

Subunit structurei

Efficient DNA binding requires dimerization with another bHLH protein. Interacts with SETD1A. Part of a complex composed at least of ASCL2, EMSY, HCFC1, HSPA8, CCAR2, MATR3, MKI67, RBBP5, TUBB2A, WDR5 and ZNF335; this complex may have a histone H3-specific methyltransferase activity.2 Publications

GO - Molecular functioni

Protein-protein interaction databases

BioGridi106922, 7 interactors
STRINGi9606.ENSP00000332293

Structurei

3D structure databases

ProteinModelPortaliQ99929
SMRiQ99929
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini50 – 102bHLHPROSITE-ProRule annotationAdd BLAST53

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi36 – 39Poly-Arg4

Phylogenomic databases

eggNOGiENOG410ISUZ Eukaryota
ENOG410Y0IE LUCA
GeneTreeiENSGT00530000063321
HOGENOMiHOG000013056
HOVERGENiHBG050590
InParanoidiQ99929
KOiK09067
OMAiACPRESC
OrthoDBiEOG091G0OB6
PhylomeDBiQ99929
TreeFamiTF322889

Family and domain databases

CDDicd00083 HLH, 1 hit
Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf
IPR015660 MASH1/Ascl1a-like
PANTHERiPTHR13935 PTHR13935, 1 hit
PfamiView protein in Pfam
PF00010 HLH, 1 hit
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SUPFAMiSSF47459 SSF47459, 1 hit
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit

Sequencei

Sequence statusi: Complete.

Q99929-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MDGGTLPRSA PPAPPVPVGC AARRRPASPE LLRCSRRRRP ATAETGGGAA
60 70 80 90 100
AVARRNERER NRVKLVNLGF QALRQHVPHG GASKKLSKVE TLRSAVEYIR
110 120 130 140 150
ALQRLLAEHD AVRNALAGGL RPQAVRPSAP RGPPGTTPVA ASPSRASSSP
160 170 180 190
GRGGSSEPGS PRSAYSSDDS GCEGALSPAE RELLDFSSWL GGY
Length:193
Mass (Da):20,185
Last modified:December 1, 2000 - v2
Checksum:iE59A71342E6D46C8
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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
CCDSiCCDS7732.1
RefSeqiNP_005161.1, NM_005170.2
UniGeneiHs.152475

Genome annotation databases

EnsembliENST00000331289; ENSP00000332293; ENSG00000183734
GeneIDi430
KEGGihsa:430
UCSCiuc001lvu.4 human

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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
CCDSiCCDS7732.1
RefSeqiNP_005161.1, NM_005170.2
UniGeneiHs.152475

3D structure databases

ProteinModelPortaliQ99929
SMRiQ99929
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106922, 7 interactors
STRINGi9606.ENSP00000332293

PTM databases

iPTMnetiQ99929
PhosphoSitePlusiQ99929

Polymorphism and mutation databases

BioMutaiASCL2
DMDMi12644476

Proteomic databases

PaxDbiQ99929
PeptideAtlasiQ99929
PRIDEiQ99929
ProteomicsDBi78523

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000331289; ENSP00000332293; ENSG00000183734
GeneIDi430
KEGGihsa:430
UCSCiuc001lvu.4 human

Organism-specific databases

CTDi430
DisGeNETi430
EuPathDBiHostDB:ENSG00000183734.4
GeneCardsiASCL2
HGNCiHGNC:739 ASCL2
MIMi601886 gene
neXtProtiNX_Q99929
OpenTargetsiENSG00000183734
PharmGKBiPA25039
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410ISUZ Eukaryota
ENOG410Y0IE LUCA
GeneTreeiENSGT00530000063321
HOGENOMiHOG000013056
HOVERGENiHBG050590
InParanoidiQ99929
KOiK09067
OMAiACPRESC
OrthoDBiEOG091G0OB6
PhylomeDBiQ99929
TreeFamiTF322889

Miscellaneous databases

GeneWikiiASCL2
GenomeRNAii430
PROiPR:Q99929
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000183734 Expressed in 116 organ(s), highest expression level in parotid gland
CleanExiHS_ASCL2
GenevisibleiQ99929 HS

Family and domain databases

CDDicd00083 HLH, 1 hit
Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf
IPR015660 MASH1/Ascl1a-like
PANTHERiPTHR13935 PTHR13935, 1 hit
PfamiView protein in Pfam
PF00010 HLH, 1 hit
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SUPFAMiSSF47459 SSF47459, 1 hit
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiASCL2_HUMAN
AccessioniPrimary (citable) accession number: Q99929
Secondary accession number(s): Q6PEY9, Q9UM68
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: December 1, 2000
Last modified: September 12, 2018
This is version 144 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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Main funding by: National Institutes of Health

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