SIM2 - SIM bHLH transcription factor 2 Gene

Also Known as SIM; bHLHe15; HMC13F06; HMC29C01

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6493

About SIM2

Cytogenetic location: 21q22.13 Genomic coordinates (GRCh38): 21:36,699,115-36,749,917 (from NCBI)

This gene has 5 transcripts (splice variants), 199 orthologues and 7 paralogues. Biased expression in kidney (RPKM 5.4), esophagus (RPKM 4.7) and 4 other tissues.

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 parkin RBR E3 ubiquitin protein Ligase. This gene maps within the so-called Down syndrome chromosomal region, and is thus thought to contribute to some specific Down syndrome phenotypes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014]

SIM2 Products (2)

mRNA Protein Name
NM_005069.6 NP_005060.1 single-minded homolog 2 long isoform
NM_009586.5 NP_033664.2 single-minded homolog 2 short isoform

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence Verweise Source
enables protein binding IPI
IPI: Inferred from physical interaction
25036637 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SIM2 Protein Structure

PAS

PAS: PAS fold (81 - 142)

PAS_3

PAS_3: PAS fold (243 - 329)

SIM_C

SIM_C: Single-minded protein C-terminus (358 - 660)

  • 0
  • 200
  • 400
  • 600
  • 667 a.a.
Protein Preferred Names Protein Names

single-minded homolog 2

  • class E basic helix-loop-helix protein 15

SIM2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
SIM2 Q14190 PTGES3 Homo sapiens Q15185
Y2H Fragment Pooling
35914814
Intra
SIM2 Q14190 PTGES3 Homo sapiens Q15185
Lumier
25036637
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Down Syndrome

  • Trisomy 21

  • Complete Trisomy 21 Syndrome

  • Down'S Syndrome

  • Trisomy 21 Syndrome

  • Down'S Syndrome - Trisomy 21

  • Downs Syndrome

  • G Trisomy

  • 47,Xx,+21

  • 47,Xy,+21

  • Trisomy G

  • Down Syndrome, Susceptibility To

  • Chromosome 21 Trisomy

  • Trisomy 21 Nos

  • Abnormal Autosomes 21
Cyclotropia
Holoprosencephaly

  • Holoprosencephaly Sequence

  • Hpe

  • Hpe - [Holoprosencephaly]
Hypertropia
Scoliosis
Chromosomal Duplication Syndrome
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Art. -Nr. Produktname
Wirkung
Reinheit
Rare Diseases
HY-RS12923 SIM2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus SIM2 VGNC VGNC:53606
Macaca mulatta SIM2 VGNC VGNC:108437
Felis catus SIM2 VGNC VGNC:65148
Mus musculus SIM2 MGD MGI:98307
Rattus norvegicus SIM2 RGD RGD:1308016
Canis familiaris SIM2 VGNC VGNC:46175
Others SIM2 NCBI