Gene Gene information from NCBI Gene database.
Entrez ID 430
Gene name Achaete-scute family bHLH transcription factor 2
Gene symbol ASCL2
Synonyms (NCBI Gene)
ASH2HASH2MASH2bHLHa45
Chromosome 11
Chromosome location 11p15.5
Summary 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
miRNA miRNA information provided by mirtarbase database.
174
miRTarBase ID miRNA Experiments Reference
MIRT018430 hsa-miR-335-5p Microarray 18185580
MIRT723361 hsa-miR-211-3p HITS-CLIP 19536157
MIRT723360 hsa-miR-4270 HITS-CLIP 19536157
MIRT723359 hsa-miR-4441 HITS-CLIP 19536157
MIRT723358 hsa-miR-6754-5p HITS-CLIP 19536157
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
USF1 Repression 12917334
USF2 Repression 12917334
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
49
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 14561729
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin ISA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601886 739 ENSG00000183734
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q99929
Protein name Achaete-scute homolog 2 (ASH-2) (hASH2) (Class A basic helix-loop-helix protein 45) (bHLHa45) (Mash2)
Protein function Transcription factor. Binds to E-box motifs 5'-CANNTG-3' in the regulatory elements of target genes, probably as a heterodimer with another basic helix-loop-helix (bHLH) protein such as the transcription factor TCF3. May bind both open and close
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00010 HLH 51 103 Helix-loop-helix DNA-binding domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the placenta at a stage between the first and second trimesters and when it matures, at about 32-36 weeks (PubMed:12099555). Expressed in the extravillous trophoblasts, the intermediate trophoblasts, and at lower levels in
Sequence
MDGGTLPRSAPPAPPVPVGCAARRRPASPELLRCSRRRRPATAETGGGAAAVARRNERER
NRVKLVNLGFQALRQHVPHGGASKKLSKVETLRSAVEYIRALQ
RLLAEHDAVRNALAGGL
RPQAVRPSAPRGPPGTTPVAASPSRASSSPGRGGSSEPGSPRSAYSSDDSGCEGALSPAE
RELLDFSSWLGGY
Sequence length 193
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
22
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANKYLOSING SPONDYLITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC LYMPHOCYTIC LEUKEMIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenoma Adenoma BEFREE 22637696
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma BEFREE 30682058
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma Pubtator 24650279 Associate
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 30722992, 31539517
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 28728856
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 28469967
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 33461604 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 35660018 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 19896696
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 22610075 Associate
★☆☆☆☆
Found in Text Mining only