SIM2 - SIM bHLH transcription factor 2 Gene

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_3

SIM_C

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12923	SIM2 Human Pre-designed siRNA Set A		/	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