2. Gene
  3. SIM2 - SIM bHLH transcription factor 2 Gene

SIM2 - SIM bHLH transcription factor 2 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as SIM; bHLHe15; HMC13F06; HMC29C01

Gene ID: 6493 | Gene type: protein coding

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

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

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS12923 SIM2 Human Pre-designed siRNA Set A Pre-designed Sets / 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