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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 (SIM BHLH Transcription Factor 2) is a Protein Coding gene. Diseases associated with SIM2 include Down Syndrome and Syphilitic Encephalitis. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and obsolete signal transducer activity. An important paralog of this gene is SIM1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISA | -- |
GO:0003677 | DNA binding | IEA | -- |
GO:0003700 | DNA-binding transcription factor activity | IEA,TAS | 8661114 |
GO:0005515 | protein binding | IEA | -- |
GO:0046982 | protein heterodimerization activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IBA | 21873635 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0016604 | nuclear body | IDA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA | -- |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006357 | regulation of transcription by RNA polymerase II | IBA | 21873635 |
GO:0007275 | multicellular organism development | IEA | -- |
GO:0007399 | nervous system development | TAS,IEA | -- |
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||||||
SP4: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SIM2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SIM2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SIM2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Sim2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Sim2 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | SIM2 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SIM2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SIM2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SIM2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | sim2 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | sim2-A 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | sim2 30 |
|
||
SIM2 31 |
|
OneToOne | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | sim 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | hlh-34 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 21 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
723859 | Benign: not provided | 36,726,223(+) | G/A | SYNONYMOUS_VARIANT | |
758382 | Likely Benign: not provided | 36,747,876(+) | C/T | SYNONYMOUS_VARIANT | |
770007 | Likely Benign: not provided | 36,747,792(+) | G/C | SYNONYMOUS_VARIANT | |
777618 | Benign: not provided | 36,744,946(+) | G/A | SYNONYMOUS_VARIANT | |
779193 | Benign: not provided | 36,719,859(+) | T/C | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1073128 | CNV | deletion | 25765185 |
nsv1133526 | CNV | deletion | 24896259 |
nsv519597 | CNV | loss | 19592680 |
nsv828876 | CNV | loss | 20364138 |
nsv953361 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
down syndrome |
|
|
syphilitic encephalitis |
|
|
hypothalamic neoplasm |
|
|
cone-rod dystrophy 10 |
|
|
inflammatory bowel disease 27 |
|
|