Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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

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
MIRT723357	hsa-miR-7113-5p	HITS-CLIP	19536157
MIRT723356	hsa-miR-7108-3p	HITS-CLIP	19536157
MIRT723355	hsa-miR-1266-5p	HITS-CLIP	19536157
MIRT723354	hsa-miR-4518	HITS-CLIP	19536157
MIRT723353	hsa-miR-4749-3p	HITS-CLIP	19536157
MIRT489232	hsa-miR-134-3p	PAR-CLIP	24398324
MIRT489231	hsa-miR-3184-5p	PAR-CLIP	24398324
MIRT489230	hsa-miR-423-5p	PAR-CLIP	24398324
MIRT489228	hsa-miR-766-5p	PAR-CLIP	24398324
MIRT489227	hsa-miR-4467	PAR-CLIP	24398324
MIRT489226	hsa-miR-149-3p	PAR-CLIP	24398324
MIRT489225	hsa-miR-4728-5p	PAR-CLIP	24398324
MIRT489224	hsa-miR-6785-5p	PAR-CLIP	24398324
MIRT489223	hsa-miR-6883-5p	PAR-CLIP	24398324
MIRT489221	hsa-miR-3175	PAR-CLIP	24398324
MIRT489222	hsa-miR-1343-5p	PAR-CLIP	24398324
MIRT489220	hsa-miR-939-5p	PAR-CLIP	24398324
MIRT489219	hsa-miR-6825-5p	PAR-CLIP	24398324
MIRT489218	hsa-miR-3180	PAR-CLIP	24398324
MIRT489217	hsa-miR-3180-3p	PAR-CLIP	24398324
MIRT489216	hsa-miR-3196	PAR-CLIP	24398324
MIRT489215	hsa-miR-6816-5p	PAR-CLIP	24398324
MIRT489214	hsa-miR-491-5p	PAR-CLIP	24398324
MIRT489213	hsa-miR-3151-5p	PAR-CLIP	24398324
MIRT489212	hsa-miR-4447	PAR-CLIP	24398324
MIRT489211	hsa-miR-4472	PAR-CLIP	24398324
MIRT489210	hsa-miR-6742-5p	PAR-CLIP	24398324
MIRT489209	hsa-miR-3150a-3p	PAR-CLIP	24398324
MIRT489208	hsa-miR-6763-5p	PAR-CLIP	24398324
MIRT489207	hsa-miR-6796-5p	PAR-CLIP	24398324
MIRT489232	hsa-miR-134-3p	PAR-CLIP	23592263
MIRT489231	hsa-miR-3184-5p	PAR-CLIP	23592263
MIRT489230	hsa-miR-423-5p	PAR-CLIP	23592263
MIRT489229	hsa-miR-671-5p	PAR-CLIP	23592263
MIRT489228	hsa-miR-766-5p	PAR-CLIP	23592263
MIRT489227	hsa-miR-4467	PAR-CLIP	23592263
MIRT489226	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT489225	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT489224	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT489223	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT489221	hsa-miR-3175	PAR-CLIP	23592263
MIRT489222	hsa-miR-1343-5p	PAR-CLIP	23592263
MIRT489220	hsa-miR-939-5p	PAR-CLIP	23592263
MIRT489219	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT489218	hsa-miR-3180	PAR-CLIP	23592263
MIRT489217	hsa-miR-3180-3p	PAR-CLIP	23592263
MIRT489216	hsa-miR-3196	PAR-CLIP	23592263
MIRT489215	hsa-miR-6816-5p	PAR-CLIP	23592263
MIRT489214	hsa-miR-491-5p	PAR-CLIP	23592263
MIRT489213	hsa-miR-3151-5p	PAR-CLIP	23592263
MIRT489212	hsa-miR-4447	PAR-CLIP	23592263
MIRT489211	hsa-miR-4472	PAR-CLIP	23592263
MIRT489210	hsa-miR-6742-5p	PAR-CLIP	23592263
MIRT489209	hsa-miR-3150a-3p	PAR-CLIP	23592263
MIRT489208	hsa-miR-6763-5p	PAR-CLIP	23592263
MIRT489207	hsa-miR-6796-5p	PAR-CLIP	23592263
MIRT439132	hsa-miR-10b-5p	3'LIFE	25074381
MIRT439132	hsa-miR-10b-5p	3'LIFE	25074381
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
MIRT723357	hsa-miR-7113-5p	HITS-CLIP	19536157
MIRT723356	hsa-miR-7108-3p	HITS-CLIP	19536157
MIRT723355	hsa-miR-1266-5p	HITS-CLIP	19536157
MIRT723354	hsa-miR-4518	HITS-CLIP	19536157
MIRT723353	hsa-miR-4749-3p	HITS-CLIP	19536157
MIRT489232	hsa-miR-134-3p	PAR-CLIP	24398324
MIRT489231	hsa-miR-3184-5p	PAR-CLIP	24398324
MIRT489230	hsa-miR-423-5p	PAR-CLIP	24398324
MIRT489228	hsa-miR-766-5p	PAR-CLIP	24398324
MIRT489227	hsa-miR-4467	PAR-CLIP	24398324
MIRT489226	hsa-miR-149-3p	PAR-CLIP	24398324
MIRT489225	hsa-miR-4728-5p	PAR-CLIP	24398324
MIRT489224	hsa-miR-6785-5p	PAR-CLIP	24398324
MIRT489223	hsa-miR-6883-5p	PAR-CLIP	24398324
MIRT489221	hsa-miR-3175	PAR-CLIP	24398324
MIRT489222	hsa-miR-1343-5p	PAR-CLIP	24398324
MIRT489220	hsa-miR-939-5p	PAR-CLIP	24398324
MIRT489219	hsa-miR-6825-5p	PAR-CLIP	24398324
MIRT489218	hsa-miR-3180	PAR-CLIP	24398324
MIRT489217	hsa-miR-3180-3p	PAR-CLIP	24398324
MIRT489216	hsa-miR-3196	PAR-CLIP	24398324
MIRT489215	hsa-miR-6816-5p	PAR-CLIP	24398324
MIRT489214	hsa-miR-491-5p	PAR-CLIP	24398324
MIRT489213	hsa-miR-3151-5p	PAR-CLIP	24398324
MIRT489212	hsa-miR-4447	PAR-CLIP	24398324
MIRT489211	hsa-miR-4472	PAR-CLIP	24398324
MIRT489210	hsa-miR-6742-5p	PAR-CLIP	24398324
MIRT489209	hsa-miR-3150a-3p	PAR-CLIP	24398324
MIRT489208	hsa-miR-6763-5p	PAR-CLIP	24398324
MIRT489207	hsa-miR-6796-5p	PAR-CLIP	24398324
MIRT489232	hsa-miR-134-3p	PAR-CLIP	23592263
MIRT489231	hsa-miR-3184-5p	PAR-CLIP	23592263
MIRT489230	hsa-miR-423-5p	PAR-CLIP	23592263
MIRT489229	hsa-miR-671-5p	PAR-CLIP	23592263
MIRT489228	hsa-miR-766-5p	PAR-CLIP	23592263
MIRT489227	hsa-miR-4467	PAR-CLIP	23592263
MIRT489226	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT489225	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT489224	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT489223	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT489221	hsa-miR-3175	PAR-CLIP	23592263
MIRT489222	hsa-miR-1343-5p	PAR-CLIP	23592263
MIRT489220	hsa-miR-939-5p	PAR-CLIP	23592263
MIRT489219	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT489218	hsa-miR-3180	PAR-CLIP	23592263
MIRT489217	hsa-miR-3180-3p	PAR-CLIP	23592263
MIRT489216	hsa-miR-3196	PAR-CLIP	23592263
MIRT489215	hsa-miR-6816-5p	PAR-CLIP	23592263
MIRT489214	hsa-miR-491-5p	PAR-CLIP	23592263
MIRT489213	hsa-miR-3151-5p	PAR-CLIP	23592263
MIRT489212	hsa-miR-4447	PAR-CLIP	23592263
MIRT489211	hsa-miR-4472	PAR-CLIP	23592263
MIRT489210	hsa-miR-6742-5p	PAR-CLIP	23592263
MIRT489209	hsa-miR-3150a-3p	PAR-CLIP	23592263
MIRT489208	hsa-miR-6763-5p	PAR-CLIP	23592263
MIRT489207	hsa-miR-6796-5p	PAR-CLIP	23592263
MIRT802683	hsa-miR-1256	CLIP-seq
MIRT802684	hsa-miR-3155	CLIP-seq
MIRT802685	hsa-miR-3155b	CLIP-seq
MIRT802686	hsa-miR-3692	CLIP-seq
MIRT802687	hsa-miR-4267	CLIP-seq
MIRT802688	hsa-miR-4505	CLIP-seq
MIRT802689	hsa-miR-4726-3p	CLIP-seq
MIRT802690	hsa-miR-4743	CLIP-seq
MIRT802691	hsa-miR-484	CLIP-seq
MIRT802692	hsa-miR-556-3p	CLIP-seq
MIRT802693	hsa-miR-615-5p	CLIP-seq
MIRT1937028	hsa-miR-338-3p	CLIP-seq
MIRT1937029	hsa-miR-4530	CLIP-seq
MIRT2176801	hsa-miR-1202	CLIP-seq
MIRT2176802	hsa-miR-1207-5p	CLIP-seq
MIRT2176803	hsa-miR-1282	CLIP-seq
MIRT2176804	hsa-miR-1468	CLIP-seq
MIRT2176805	hsa-miR-1470	CLIP-seq
MIRT2176806	hsa-miR-1909	CLIP-seq
MIRT2176807	hsa-miR-3148	CLIP-seq
MIRT2176808	hsa-miR-3194-5p	CLIP-seq
MIRT1937028	hsa-miR-338-3p	CLIP-seq
MIRT2176809	hsa-miR-3605-3p	CLIP-seq
MIRT2176810	hsa-miR-3657	CLIP-seq
MIRT2176811	hsa-miR-3688-3p	CLIP-seq
MIRT2176812	hsa-miR-3972	CLIP-seq
MIRT2176813	hsa-miR-4435	CLIP-seq
MIRT2176814	hsa-miR-4488	CLIP-seq
MIRT2176815	hsa-miR-4519	CLIP-seq
MIRT1937029	hsa-miR-4530	CLIP-seq
MIRT2176816	hsa-miR-4660	CLIP-seq
MIRT2176817	hsa-miR-4667-3p	CLIP-seq
MIRT2176818	hsa-miR-4697-5p	CLIP-seq
MIRT2176819	hsa-miR-4727-3p	CLIP-seq
MIRT2176820	hsa-miR-4763-3p	CLIP-seq
MIRT2176821	hsa-miR-4776-3p	CLIP-seq
MIRT2176822	hsa-miR-486-3p	CLIP-seq
MIRT2176823	hsa-miR-508-5p	CLIP-seq
MIRT802692	hsa-miR-556-3p	CLIP-seq
MIRT802693	hsa-miR-615-5p	CLIP-seq
MIRT2176824	hsa-miR-646	CLIP-seq
MIRT2176825	hsa-miR-766	CLIP-seq
MIRT2384524	hsa-miR-4758-3p	CLIP-seq
MIRT2176805	hsa-miR-1470	CLIP-seq
MIRT1937028	hsa-miR-338-3p	CLIP-seq
MIRT2176810	hsa-miR-3657	CLIP-seq
MIRT1937029	hsa-miR-4530	CLIP-seq
MIRT2176816	hsa-miR-4660	CLIP-seq
MIRT2176817	hsa-miR-4667-3p	CLIP-seq
MIRT2176824	hsa-miR-646	CLIP-seq
MIRT2176825	hsa-miR-766	CLIP-seq

Transcription factors

Show/Hide all(2)

Transcription factor	Regulation	Reference
USF1	Repression	12917334
USF2	Repression	12917334

Show/Hide all(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
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
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	14561729
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001666	Process	Response to hypoxia	IEP	14561729
GO:0001701	Process	In utero embryonic development	IEA
GO:0001890	Process	Placenta development	IEA
GO:0001890	Process	Placenta development	NAS	14561729
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005634	Component	Nucleus	IDA	11440538
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	12917334
GO:0005737	Component	Cytoplasm	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0007423	Process	Sensory organ development	IBA
GO:0010626	Process	Negative regulation of Schwann cell proliferation	IEA
GO:0019827	Process	Stem cell population maintenance	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030182	Process	Neuron differentiation	IBA
GO:0030217	Process	T cell differentiation	IEA
GO:0035019	Process	Somatic stem cell population maintenance	IEA
GO:0043425	Function	BHLH transcription factor binding	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045626	Process	Negative regulation of T-helper 1 cell differentiation	IEA
GO:0045629	Process	Negative regulation of T-helper 2 cell differentiation	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046983	Function	Protein dimerization activity	IEA
GO:0050767	Process	Regulation of neurogenesis	IBA
GO:0060712	Process	Spongiotrophoblast layer development	IEP	12917334
GO:0060719	Process	Chorionic trophoblast cell development	IEA
GO:0061470	Process	T follicular helper cell differentiation	IEA
GO:0070888	Function	E-box binding	IDA	14561729
GO:0070888	Function	E-box binding	IEA
GO:0090575	Component	RNA polymerase II transcription regulator complex	IBA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2000320	Process	Negative regulation of T-helper 17 cell differentiation	IEA
GO:2000406	Process	Positive regulation of T cell migration	IEA

MIM	HGNC	e!Ensembl
601886	739	ENSG00000183734

Protein

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

Show/Hide Unknown Diseases (7)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Diabetes	Type 2 diabetes (adjusted for BMI), Type 2 diabetes, Type 2 diabetes with neurological manifestations (PheCode 250.24), Type 2 diabetes with renal manifestations (PheCode 250.22)	N/A	N/A	GWAS
Diabetes	Type 1 diabetes	N/A	N/A	GWAS
Eczema	Eczema	N/A	N/A	GWAS
Lymphocytic Leukemia	Chronic lymphocytic leukemia	N/A	N/A	GWAS
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS
Prostate cancer	Prostate cancer (late onset), Prostate cancer, Prostate cancer (SNP x SNP interaction), Prostate cancer (early onset)	N/A	N/A	GWAS
Sarcoidosis	Sarcoidosis	N/A	N/A	GWAS

Show/Hide Text Mining Associations (18)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
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
Inflammation	Associate	36008864
Multiple Sclerosis	Associate	30006149
Neoplasm Metastasis	Associate	30106147
Neoplasms	Associate	25287138, 32647988, 34059508, 35774798, 35882624, 9403053
Neoplasms	Inhibit	26307678, 36008864
Neoplasms	Stimulate	29886802
Prostatic Neoplasms	Associate	29789573, 37995683
Stomach Neoplasms	Associate	23181270, 30106147, 36008864

ASCL2 (achaete-scute family bHLH transcription factor 2)