ASCL2 (achaete-scute family bHLH transcription factor 2)

Gene
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
430
Gene name Gene Name - the full gene name approved by the HGNC.
Achaete-scute family bHLH transcription factor 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ASCL2
Synonyms (NCBI Gene) Gene synonyms aliases
ASH2, HASH2, MASH2, bHLHa45
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p15.5
Summary Summary of gene provided in NCBI Entrez 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 det
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(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
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(2)
Transcription factor Regulation Reference
USF1 Repression 12917334
USF2 Repression 12917334
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(23)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 14561729
GO:0000785 Component Chromatin ISA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA 21873635
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 14561729
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
601886 739 ENSG00000183734
Protein
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
NRVKLVNLGFQALRQHVPHGGASKKLSKVETLRSAVEYIRALQRLLAEHDAVRNALAGGL
RPQAVRPSAPRGPPGTTPVAASPSRASSSPGRGGSSEPGSPRSAYSSDDSGCEGALSPAE
RELLDFSSWLGGY
Sequence length 193
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal
Disease term Disease name dbSNP ID References
Colonic neoplasms Malignant tumor of colon, Colonic Neoplasms rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483 15059925
Diabetes mellitus Diabetes Mellitus, Non-Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)		 30718926
Show/Hide Unknown Diseases (6)
Unknown
Disease term Disease name Evidence References Source
Diabetes Diabetes GWAS
Eczema Eczema GWAS
Prostate cancer Prostate cancer Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population. GWAS, CBGDA
Lymphocytic Leukemia Lymphocytic Leukemia GWAS
Show/Hide Text Mining Associations (18)
Associations from Text Mining
Disease Name Relationship Type References
Astrocytoma Associate 24650279
Breast Neoplasms Associate 33461604
Carcinogenesis Associate 35660018
Carcinoma Renal Cell Associate 22610075
Colonic Neoplasms Associate 35774798
Colorectal Neoplasms Associate 25371200, 26307678, 34059508, 35660018, 35670012, 37310750
Colorectal Neoplasms Stimulate 29886802, 33628843
Endometrial Neoplasms Associate 24623538
Glioma Associate 35882624
Glucosephosphate Dehydrogenase Deficiency Associate 25677060