ASCL2
Achaete-scute homolog 2
Also known as: ASCL2_HUMAN, ASH2, bHLHa45, HASH2
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q99929
- Gene
- ASCL2
- Ensembl
- ENSG00000183734
- Chromosome
- 11
- Canonical length
- 193 aa
- Protein class
- Predicted intracellular proteins, Transcription factors
OverviewNCBI Gene
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 determination of the neuronal precursors in the peripheral nervous system and the central nervous system. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
193 residues, UniProt reviewed canonical sequence.
>Q99929|ASCL2
1 MDGGTLPRSA PPAPPVPVGC AARRRPASPE LLRCSRRRRP ATAETGGGAA AVARRNERER
61 NRVKLVNLGF QALRQHVPHG GASKKLSKVE TLRSAVEYIR ALQRLLAEHD AVRNALAGGL
121 RPQAVRPSAP RGPPGTTPVA ASPSRASSSP GRGGSSEPGS PRSAYSSDDS GCEGALSPAE
181 RELLDFSSWL GGYLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ASCL2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.62
- Highest tissue expression
- 8 nTPM
Expression across tissuesHPA
Tissue
- skin: 8 nTPM
- salivary gland: 7.6 nTPM
- duodenum: 6.5 nTPM
- placenta: 5.2 nTPM
- small intestine: 5.2 nTPM
- colon: 3.6 nTPM
Single-cell type
- extravillous trophoblasts: 1,529 nCPM
- paneth cells: 232 nCPM
- enteric stem cells: 221 nCPM
- migrating cytotrophoblasts: 161 nCPM
- enteric transient amplifying cells: 59 nCPM
- tuft cells: 58 nCPM
Immune cell
- eosinophil: 7.9 nTPM
- basophil: 3.9 nTPM
- gdT-cell: 2.2 nTPM
- intermediate monocyte: 1.7 nTPM
- non-classical monocyte: 1.4 nTPM
- memory CD8 T-cell: 1.3 nTPM
Brain region
- white matter: 4.8 nTPM
- midbrain: 4 nTPM
- medulla oblongata: 3.5 nTPM
- thalamus: 3.1 nTPM
- spinal cord: 2.3 nTPM
- amygdala: 2.2 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.82
- gnomAD pLI
- 0.35
- gnomAD missense Z
- 0.56
- DepMap mean gene effect
- -0.02
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- negative regulation of Schwann cell proliferation
- negative regulation of T-helper 1 cell differentiation
- negative regulation of T-helper 17 cell differentiation
- negative regulation of T-helper 2 cell differentiation
- negative regulation of transcription by RNA polymerase II
- neuron differentiation
- placenta development
- positive regulation of T cell migration
- positive regulation of transcription by RNA polymerase II
- regulation of neurogenesis
- response to hypoxia
- sensory organ development
- somatic stem cell population maintenance
- T follicular helper cell differentiation
- chorionic trophoblast cell development
- spongiotrophoblast layer development
Molecular functions
- bHLH transcription factor binding
- DNA-binding transcription activator activity, RNA polymerase II-specific
- DNA-binding transcription factor activity, RNA polymerase II-specific
- DNA-binding transcription repressor activity, RNA polymerase II-specific
- E-box binding
- protein dimerization activity
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding
- sequence-specific double-stranded DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ASCL2 as an antibody target. Whether an autoantibody or antibody against ASCL2 could matter depends on whether native ASCL2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ASCL2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label ASCL2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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