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

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID	6493
Gene name	SIM bHLH transcription factor 2
Gene symbol	SIM2
Synonyms (NCBI Gene)	HMC13F06HMC29C01SIMbHLHe15
Chromosome	21
Chromosome location	21q22.13
Summary	This gene represents a homolog of the Drosophila single-minded (sim) gene, which encodes a transcription factor that is a master regulator of neurogenesis. The encoded protein is ubiquitinated by RING-IBR-RING-type E3 ubiquitin ligases, including the park

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miRTarBase ID	miRNA	Experiments	Reference
MIRT653824	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT653823	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT653822	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT653821	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT653820	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT653819	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT653818	hsa-miR-513c-5p	HITS-CLIP	23824327
MIRT653817	hsa-miR-514b-5p	HITS-CLIP	23824327
MIRT653816	hsa-miR-7641	HITS-CLIP	23824327
MIRT653824	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT653823	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT653822	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT653821	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT653820	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT653819	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT653818	hsa-miR-513c-5p	HITS-CLIP	23824327
MIRT653817	hsa-miR-514b-5p	HITS-CLIP	23824327
MIRT653816	hsa-miR-7641	HITS-CLIP	23824327
MIRT1349424	hsa-miR-205	CLIP-seq
MIRT1349425	hsa-miR-223	CLIP-seq
MIRT1349426	hsa-miR-2278	CLIP-seq
MIRT1349427	hsa-miR-23a	CLIP-seq
MIRT1349428	hsa-miR-23b	CLIP-seq
MIRT1349429	hsa-miR-23c	CLIP-seq
MIRT1349430	hsa-miR-25	CLIP-seq
MIRT1349431	hsa-miR-2964a-3p	CLIP-seq
MIRT1349432	hsa-miR-3186-5p	CLIP-seq
MIRT1349433	hsa-miR-32	CLIP-seq
MIRT1349434	hsa-miR-33a	CLIP-seq
MIRT1349435	hsa-miR-33b	CLIP-seq
MIRT1349436	hsa-miR-363	CLIP-seq
MIRT1349437	hsa-miR-367	CLIP-seq
MIRT1349438	hsa-miR-3944-5p	CLIP-seq
MIRT1349439	hsa-miR-4255	CLIP-seq
MIRT1349440	hsa-miR-4277	CLIP-seq
MIRT1349441	hsa-miR-4289	CLIP-seq
MIRT1349442	hsa-miR-4694-3p	CLIP-seq
MIRT1349443	hsa-miR-4698	CLIP-seq
MIRT1349444	hsa-miR-545	CLIP-seq
MIRT1349445	hsa-miR-548p	CLIP-seq
MIRT1349446	hsa-miR-586	CLIP-seq
MIRT1349447	hsa-miR-642b	CLIP-seq
MIRT1349448	hsa-miR-92a	CLIP-seq
MIRT1349449	hsa-miR-92b	CLIP-seq
MIRT1557022	hsa-miR-744	CLIP-seq
MIRT2103540	hsa-miR-4643	CLIP-seq
MIRT2103541	hsa-miR-466	CLIP-seq
MIRT2103542	hsa-miR-4789-3p	CLIP-seq
MIRT2103543	hsa-miR-125a-3p	CLIP-seq
MIRT2103544	hsa-miR-2117	CLIP-seq
MIRT2103545	hsa-miR-3065-3p	CLIP-seq
MIRT2103546	hsa-miR-3185	CLIP-seq
MIRT2103547	hsa-miR-4273	CLIP-seq
MIRT2103548	hsa-miR-4300	CLIP-seq
MIRT2103549	hsa-miR-4487	CLIP-seq
MIRT2103550	hsa-miR-4717-3p	CLIP-seq
MIRT2103551	hsa-miR-5095	CLIP-seq
MIRT2103552	hsa-miR-552	CLIP-seq
MIRT2103553	hsa-miR-609	CLIP-seq
MIRT2103554	hsa-miR-920	CLIP-seq
MIRT2622801	hsa-miR-1915	CLIP-seq
MIRT1349432	hsa-miR-3186-5p	CLIP-seq
MIRT2622802	hsa-miR-4726-3p	CLIP-seq
MIRT1349447	hsa-miR-642b	CLIP-seq
MIRT2622801	hsa-miR-1915	CLIP-seq
MIRT1349432	hsa-miR-3186-5p	CLIP-seq
MIRT2622802	hsa-miR-4726-3p	CLIP-seq
MIRT1349447	hsa-miR-642b	CLIP-seq

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Transcription factor	Regulation	Reference
MYB	Unknown	11404025

Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
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: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:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	TAS	8661114
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	TAS	8661114, 9199934
GO:0005515	Function	Protein binding	IPI	25036637, 32814053, 35914814
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007399	Process	Nervous system development	IEA
GO:0007399	Process	Nervous system development	TAS	9199934
GO:0009880	Process	Embryonic pattern specification	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0030154	Process	Cell differentiation	IEA
GO:0030324	Process	Lung development	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0046983	Function	Protein dimerization activity	IEA
GO:0048731	Process	System development	IEA

MIM	HGNC	e!Ensembl
600892	10883	ENSG00000159263

Q14190

Protein name

Single-minded homolog 2 (Class E basic helix-loop-helix protein 15) (bHLHe15)

Protein function

Transcription factor that may be a master gene of CNS development in cooperation with Arnt. It may have pleiotropic effects in the tissues expressed during development.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00989	PAS	79 → 164	PAS fold	Domain
PF08447	PAS_3	242 → 329	PAS fold	Domain
PF06621	SIM_C	358 → 660	Single-minded protein C-terminus	Family

Sequence

MKEKSKNAAKTRREKENGEFYELAKLLPLPSAITSQLDKASIIRLTTSYLKMRAVFPEGL
GDAWGQPSRAGPLDGVAKELGSHLLQTLDGFVFVVASDGKIMYISETASVHLGLSQVELT
GNSIYEYIHPSDHDEMTAVLTAHQPLHHHLLQEYEIERSFFLRMKCVLAKRNAGLTCSGY
KVIHCSGYLKIRQYMLDMSLYDSCYQIVGLVAVGQSLPPSAITEIKLYSNMFMFRASLDL
KLIFLDSRVTEVTGYEPQDLIEKTLYHHVHGCDVFHLRYAHHLLLVKGQVTTKYYRLLSK
RGGWVWVQSYATVVHNSRSSRPHCIVSVNYVLTEIEYKELQLSLEQVSTAKSQDSWRTAL
STSQETRKLVKPKNTKMKTKLRTNPYPPQQYSSFQMDKLECGQLGNWRASPPASAAAPPE
LQPHSESSDLLYTPSYSLPFSYHYGHFPLDSHVFSSKKPMLPAKFGQPQGSPCEVARFFL
STLPASGECQWHYANPLVPSSSSPAKNPPEPPANTARHSLVPSYEAPAAAVRRFGEDTAP
PSFPSCGHYREEPALGPAKAARQAARDGARLALARAAPECCAPPTPEAPGAPAQLPFVLL
NYHRVLARRGPLGGAAPAASGLACAPGGPEAATGALRLRHPSPAATSPPGAPLPHYLGAS
VIITNGR

Sequence length

667

Interactions

View interactions

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)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Neurodevelopmental with craniofacial anomalies disorder	Likely pathogenic	rs201840539	RCV001816027	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEASONAL ALLERGIC RHINITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Breast Neoplasms	Associate	37121978	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Associate	33650646	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Associate	29109451	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Associate	16129820	★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Associate	16129820, 20448453, 22048266, 23343470, 7485157	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Associate	33650646	★★★★★ ★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Associate	7485157	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	15579438, 16129820, 22174909, 23343470, 38477085	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Associate	35370009	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Associate	38477085	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Associate	21703393, 22174909, 26364608, 28910345	★★★★★ ★☆☆☆☆ Found in Text Mining only

SIM2 (SIM bHLH transcription factor 2)