Gene: Sim2

Basic information

Tag Content
Uniprot ID Q61079; O35391; Q61046; Q61904;
Entrez ID 20465
Genbank protein ID BAA09700.1; AAA91202.1; BAA11013.1; AAB84099.1; AAB19098.1;
Genbank nucleotide ID NM_011377.2
Ensembl protein ID ENSMUSP00000072043
Ensembl nucleotide ID ENSMUSG00000062713
Gene name Single-minded homolog 2
Gene symbol Sim2
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO
Developmental stage E14.5
Data sources Manually collected
Reference 12203729
Functional description 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.
Sequence
MKEKSKNAAK TRREKENGEF YELAKLLPLP SAITSQLDKA SIIRLTTSYL KMRAVFPEGL 60
GDAWGQPSRT GPLDSVAKEL GSHLLQTLDG FVFVVASDGK IMYISETASV HLGLSQVELT 120
GNSIYEYIHP SDHDEMTAVL TAHPPLHHHL LQEYEIERSF FLRMKCVLAK RNAGLTCSGY 180
KVIHCSGYLK IRQYMLDMSL YDSCYQIVGL VAVGQSLPPS AITEIKLHSN MFMFRASLDL 240
KLIFLDSRVT ELTGYEPQDL IEKTLYHHVH GCDTFHLRYA HHLLLVKGQV TTKYYRLLSK 300
LGGWVWVQSY ATVVHNSRSS RPHCIVSVNY VLTDVEYKEL QLSLDQVSTS KSQESWRTTL 360
STSQETRKSA KPKNTKMKTK LRTNPYPPQQ YSSFQMDKLE CSQVGNWRTS PPTNAVAPPE 420
QQLHSEASDL LYGPPYSLPF SYHYGHFPLD SHVFSSKKPG LPAKFGQPQG SPCEVARFFL 480
STLPASSECQ WHCANSLVPS SSSPAKNLSE PSPVNAARHG LVPNYEAPSA AARRFCEDPA 540
PPSFPSCGHY REEPALGPAK APRQASRDAA RLALARAPPE CCAPPAPEPQ APAQLPFVLL 600
NYHRVLARRG PLGSAAPGAP EAAGSLRPRH PGPVAASAPG APRPHYLGAS VIITNGR 657

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression during embryonic days (E11.5~E18.5) ~ adult days (Ps) in the lip and palate tissues. (X-axis: days, Y-axis: tissues)

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Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologSIM2A0A5F4C0N9Canis lupus familiarisPredictionMore>>
1:1 orthologSIM2102179422A0A452FXM0Capra hircusPredictionMore>>
1:1 orthologSIM26493Q14190Homo sapiensPredictionMore>>
1:1 orthologSim220465Q61079CPOE14.5Mus musculusPublicationMore>>
1:1 orthologSIM2474107A0A2I3TNB0Pan troglodytesPredictionMore>>
1:1 orthologSIM2I3LA51Sus scrofaPredictionMore>>
1:1 orthologSim2304071D4AA36Rattus norvegicusPredictionMore>>

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specificIBA
GO:0003677 DNA bindingIDA
GO:0005515 protein bindingIPI
GO:0046982 protein heterodimerization activityIPI

GO:Biological Process

GO ID GO Term Evidence
GO:0000122 negative regulation of transcription by RNA polymerase IIIGI
GO:0006357 regulation of transcription by RNA polymerase IIIBA
GO:0007399 nervous system developmentIEA
GO:0009880 embryonic pattern specificationIMP
GO:0030154 cell differentiationIEA
GO:0030324 lung developmentIMP
GO:0045892 negative regulation of transcription, DNA-templatedIDA
GO:0045944 positive regulation of transcription by RNA polymerase IIIBA

GO:Cellular Component

GO ID GO Term Evidence
GO:0005634 nucleusIDA
GO:0005634 nucleusIBA
GO:0005654 nucleoplasmISO
GO:0016604 nuclear bodyISO

Reactome Pathway

Reactome ID Reactome Term Evidence

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0217 Developmental protein
KW-0221 Differentiation
KW-0238 DNA-binding
KW-0524 Neurogenesis
KW-0539 Nucleus
KW-1185 Reference proteome
KW-0677 Repeat
KW-0804 Transcription
KW-0805 Transcription regulation

Interpro

InterPro ID InterPro Term
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf
IPR001610 PAC
IPR000014 PAS
IPR035965 PAS-like_dom_sf
IPR013767 PAS_fold
IPR013655 PAS_fold_3
IPR010578 SIM_C

PROSITE

PROSITE ID PROSITE Term
PS50888 BHLH
PS50112 PAS
PS51302 SIM_C

Pfam

Pfam ID Pfam Term
PF00989 PAS
PF08447 PAS_3
PF06621 SIM_C

Protein-protein interaction

Protein-miRNA interaction