UniProtKB - Q14190 (SIM2_HUMAN)
Single-minded homolog 2
SIM2
Functioni
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.
GO - Molecular functioni
- DNA binding Source: ProtInc
- DNA-binding transcription factor activity Source: ProtInc
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- protein heterodimerization activity Source: Ensembl
- RNA polymerase II transcription regulatory region sequence-specific DNA binding Source: GO_Central
GO - Biological processi
- cell differentiation Source: UniProtKB-KW
- embryonic pattern specification Source: Ensembl
- lung development Source: Ensembl
- negative regulation of transcription by RNA polymerase II Source: Ensembl
- nervous system development Source: ProtInc
- regulation of transcription by RNA polymerase II Source: GO_Central
Keywordsi
Molecular function | Developmental protein, DNA-binding |
Biological process | Differentiation, Neurogenesis, Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | Q14190 |
SignaLinki | Q14190 |
SIGNORi | Q14190 |
Names & Taxonomyi
Protein namesi | Recommended name: Single-minded homolog 2Alternative name(s): Class E basic helix-loop-helix protein 15 Short name: bHLHe15 |
Gene namesi | Name:SIM2 Synonyms:BHLHE15 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:10883, SIM2 |
MIMi | 600892, gene |
neXtProti | NX_Q14190 |
VEuPathDBi | HostDB:ENSG00000159263 |
Subcellular locationi
Nucleus
- Nucleus PROSITE-ProRule annotation1 Publication
Nucleus
- nuclear body Source: HPA
- nucleoplasm Source: HPA
Other locations
- chromatin Source: NTNU_SB
Keywords - Cellular componenti
NucleusPathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 367 | R → A or G: Reduced nuclear translocation. 1 Publication | 1 | |
Mutagenesisi | 368 | K → A: No effect on nuclear translocation. 1 Publication | 1 | |
Mutagenesisi | 369 | L → A: No effect on nuclear translocation. 1 Publication | 1 | |
Mutagenesisi | 370 | V → A: No effect on nuclear translocation. 1 Publication | 1 | |
Mutagenesisi | 371 | K → A: No effect on nuclear translocation. 1 Publication | 1 | |
Mutagenesisi | 372 | P → A: No effect on nuclear translocation. 1 Publication | 1 | |
Mutagenesisi | 373 | K → A or G: Reduced nuclear translocation. 1 Publication | 1 | |
Mutagenesisi | 375 | T → A: No effect on nuclear translocation. 1 Publication | 1 | |
Mutagenesisi | 376 | K → A: No effect on nuclear translocation. 1 Publication | 1 | |
Mutagenesisi | 377 | M → A: No effect on nuclear translocation. 1 Publication | 1 | |
Mutagenesisi | 378 | K → G: No effect on nuclear translocation. 1 Publication | 1 | |
Mutagenesisi | 379 | T → A: No effect on nuclear translocation. 1 Publication | 1 | |
Mutagenesisi | 380 | K → A: No effect on nuclear translocation. 1 Publication | 1 | |
Mutagenesisi | 381 | L → A: No effect on nuclear translocation. 1 Publication | 1 | |
Mutagenesisi | 382 | R → A: No effect on nuclear translocation. 1 Publication | 1 | |
Mutagenesisi | 383 | T → A: No effect on nuclear translocation. 1 Publication | 1 | |
Mutagenesisi | 385 | P → A: Reduced nuclear translocation. 1 Publication | 1 | |
Mutagenesisi | 386 | Y → A: Reduced nuclear translocation. 1 Publication | 1 |
Organism-specific databases
DisGeNETi | 6493 |
OpenTargetsi | ENSG00000159263 |
PharmGKBi | PA35783 |
Miscellaneous databases
Pharosi | Q14190, Tbio |
Genetic variation databases
BioMutai | SIM2 |
DMDMi | 2851630 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000127441 | 1 – 667 | Single-minded homolog 2Add BLAST | 667 |
Proteomic databases
MassIVEi | Q14190 |
MaxQBi | Q14190 |
PaxDbi | Q14190 |
PeptideAtlasi | Q14190 |
PRIDEi | Q14190 |
ProteomicsDBi | 59911 [Q14190-1] 59912 [Q14190-2] |
PTM databases
iPTMneti | Q14190 |
PhosphoSitePlusi | Q14190 |
Expressioni
Gene expression databases
Bgeei | ENSG00000159263, Expressed in cortex of kidney and 140 other tissues |
ExpressionAtlasi | Q14190, baseline and differential |
Genevisiblei | Q14190, HS |
Organism-specific databases
HPAi | ENSG00000159263, Tissue enhanced (esophagus, kidney, skeletal muscle) |
Interactioni
Subunit structurei
Efficient DNA binding requires dimerization with another bHLH protein. Heterodimer of SIM2 and ARNT.
Binary interactionsi
GO - Molecular functioni
- protein heterodimerization activity Source: Ensembl
Protein-protein interaction databases
BioGRIDi | 112384, 15 interactors |
IntActi | Q14190, 31 interactors |
MINTi | Q14190 |
STRINGi | 9606.ENSP00000290399 |
Miscellaneous databases
RNActi | Q14190, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 1 – 53 | bHLHPROSITE-ProRule annotationAdd BLAST | 53 | |
Domaini | 77 – 149 | PAS 1PROSITE-ProRule annotationAdd BLAST | 73 | |
Domaini | 218 – 288 | PAS 2PROSITE-ProRule annotationAdd BLAST | 71 | |
Domaini | 292 – 335 | PACAdd BLAST | 44 | |
Domaini | 336 – 667 | Single-minded C-terminalPROSITE-ProRule annotationAdd BLAST | 332 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 356 – 389 | DisorderedSequence analysisAdd BLAST | 34 | |
Regioni | 409 – 428 | DisorderedSequence analysisAdd BLAST | 20 | |
Regioni | 500 – 520 | DisorderedSequence analysisAdd BLAST | 21 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 367 – 386 | Nuclear localization signal1 PublicationAdd BLAST | 20 |
Keywords - Domaini
RepeatPhylogenomic databases
eggNOGi | KOG3559, Eukaryota |
GeneTreei | ENSGT00940000159985 |
HOGENOMi | CLU_010044_4_1_1 |
InParanoidi | Q14190 |
OMAi | SECQWHY |
OrthoDBi | 231698at2759 |
PhylomeDBi | Q14190 |
TreeFami | TF317772 |
Family and domain databases
CDDi | cd00130, PAS, 2 hits |
Gene3Di | 4.10.280.10, 1 hit |
InterProi | View protein in InterPro 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 |
Pfami | View protein in Pfam PF00989, PAS, 1 hit PF08447, PAS_3, 1 hit PF06621, SIM_C, 1 hit |
SMARTi | View protein in SMART SM00353, HLH, 1 hit SM00086, PAC, 1 hit SM00091, PAS, 2 hits |
SUPFAMi | SSF47459, SSF47459, 1 hit SSF55785, SSF55785, 2 hits |
PROSITEi | View protein in PROSITE PS50888, BHLH, 1 hit PS50112, PAS, 2 hits PS51302, SIM_C, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MKEKSKNAAK TRREKENGEF YELAKLLPLP SAITSQLDKA SIIRLTTSYL
60 70 80 90 100
KMRAVFPEGL GDAWGQPSRA GPLDGVAKEL GSHLLQTLDG FVFVVASDGK
110 120 130 140 150
IMYISETASV HLGLSQVELT GNSIYEYIHP SDHDEMTAVL TAHQPLHHHL
160 170 180 190 200
LQEYEIERSF FLRMKCVLAK RNAGLTCSGY KVIHCSGYLK IRQYMLDMSL
210 220 230 240 250
YDSCYQIVGL VAVGQSLPPS AITEIKLYSN MFMFRASLDL KLIFLDSRVT
260 270 280 290 300
EVTGYEPQDL IEKTLYHHVH GCDVFHLRYA HHLLLVKGQV TTKYYRLLSK
310 320 330 340 350
RGGWVWVQSY ATVVHNSRSS RPHCIVSVNY VLTEIEYKEL QLSLEQVSTA
360 370 380 390 400
KSQDSWRTAL STSQETRKLV KPKNTKMKTK LRTNPYPPQQ YSSFQMDKLE
410 420 430 440 450
CGQLGNWRAS PPASAAAPPE LQPHSESSDL LYTPSYSLPF SYHYGHFPLD
460 470 480 490 500
SHVFSSKKPM LPAKFGQPQG SPCEVARFFL STLPASGECQ WHYANPLVPS
510 520 530 540 550
SSSPAKNPPE PPANTARHSL VPSYEAPAAA VRRFGEDTAP PSFPSCGHYR
560 570 580 590 600
EEPALGPAKA ARQAARDGAR LALARAAPEC CAPPTPEAPG APAQLPFVLL
610 620 630 640 650
NYHRVLARRG PLGGAAPAAS GLACAPGGPE AATGALRLRH PSPAATSPPG
660
APLPHYLGAS VIITNGR
The sequence of this isoform differs from the canonical sequence as follows:
526-570: APAAAVRRFG...ARQAARDGAR → GGSGLLVGKV...GQTCPLSASK
571-667: Missing.
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH7BZX8 | H7BZX8_HUMAN | Single-minded homolog 2 | SIM2 | 480 | Annotation score: | ||
V9GY04 | V9GY04_HUMAN | Single-minded homolog 2 | SIM2 | 73 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 183 – 184 | IH → RI in BAA07909 (PubMed:7647800).Curated | 2 | |
Sequence conflicti | 453 | V → F in AAB62397 (PubMed:9503011).Curated | 1 | |
Sequence conflicti | 453 | V → F in CAA05055 (PubMed:9503011).Curated | 1 | |
Sequence conflicti | 526 | A → G in AAB62397 (PubMed:9503011).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_024281 | 483 | L → M1 PublicationCorresponds to variant dbSNP:rs2073601Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_002148 | 526 – 570 | APAAA…RDGAR → GGSGLLVGKVGGLRTAGSRS SHGGGWQMETEPSRFGQTCP LSASK in isoform SIM2S. 2 PublicationsAdd BLAST | 45 | |
Alternative sequenceiVSP_012767 | 571 – 667 | Missing in isoform SIM2S. 2 PublicationsAdd BLAST | 97 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U80456 mRNA Translation: AAB62396.1 U80457 mRNA Translation: AAB62397.1 AB003185 Genomic DNA Translation: BAA21489.1 AB003185 Genomic DNA Translation: BAA21490.1 AP000697 Genomic DNA Translation: BAA89433.1 AP001726 Genomic DNA No translation available. CH471079 Genomic DNA Translation: EAX09737.1 BC110444 mRNA Translation: AAI10445.1 D85922 Genomic DNA Translation: BAA12919.1 D44444 Genomic DNA Translation: BAA07906.1 D44445 Genomic DNA Translation: BAA07907.1 D44446 Genomic DNA Translation: BAA07908.1 D44447 Genomic DNA Translation: BAA07909.1 D44448 Genomic DNA Translation: BAA07910.1 AJ001858 mRNA Translation: CAA05055.1 X84790 mRNA Translation: CAA59261.1 D70838 Genomic DNA Translation: BAA11108.1 |
CCDSi | CCDS13646.1 [Q14190-1] |
PIRi | A58520 I78525 I78526 |
RefSeqi | NP_005060.1, NM_005069.5 [Q14190-1] NP_033664.2, NM_009586.4 [Q14190-2] |
Genome annotation databases
Ensembli | ENST00000290399.11; ENSP00000290399.6; ENSG00000159263.16 |
GeneIDi | 6493 |
KEGGi | hsa:6493 |
MANE-Selecti | ENST00000290399.11; ENSP00000290399.6; NM_005069.6; NP_005060.1 |
UCSCi | uc002yvr.3, human [Q14190-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U80456 mRNA Translation: AAB62396.1 U80457 mRNA Translation: AAB62397.1 AB003185 Genomic DNA Translation: BAA21489.1 AB003185 Genomic DNA Translation: BAA21490.1 AP000697 Genomic DNA Translation: BAA89433.1 AP001726 Genomic DNA No translation available. CH471079 Genomic DNA Translation: EAX09737.1 BC110444 mRNA Translation: AAI10445.1 D85922 Genomic DNA Translation: BAA12919.1 D44444 Genomic DNA Translation: BAA07906.1 D44445 Genomic DNA Translation: BAA07907.1 D44446 Genomic DNA Translation: BAA07908.1 D44447 Genomic DNA Translation: BAA07909.1 D44448 Genomic DNA Translation: BAA07910.1 AJ001858 mRNA Translation: CAA05055.1 X84790 mRNA Translation: CAA59261.1 D70838 Genomic DNA Translation: BAA11108.1 |
CCDSi | CCDS13646.1 [Q14190-1] |
PIRi | A58520 I78525 I78526 |
RefSeqi | NP_005060.1, NM_005069.5 [Q14190-1] NP_033664.2, NM_009586.4 [Q14190-2] |
3D structure databases
AlphaFoldDBi | Q14190 |
SMRi | Q14190 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 112384, 15 interactors |
IntActi | Q14190, 31 interactors |
MINTi | Q14190 |
STRINGi | 9606.ENSP00000290399 |
PTM databases
iPTMneti | Q14190 |
PhosphoSitePlusi | Q14190 |
Genetic variation databases
BioMutai | SIM2 |
DMDMi | 2851630 |
Proteomic databases
MassIVEi | Q14190 |
MaxQBi | Q14190 |
PaxDbi | Q14190 |
PeptideAtlasi | Q14190 |
PRIDEi | Q14190 |
ProteomicsDBi | 59911 [Q14190-1] 59912 [Q14190-2] |
Protocols and materials databases
Antibodypediai | 23108, 176 antibodies from 30 providers |
DNASUi | 6493 |
Genome annotation databases
Ensembli | ENST00000290399.11; ENSP00000290399.6; ENSG00000159263.16 |
GeneIDi | 6493 |
KEGGi | hsa:6493 |
MANE-Selecti | ENST00000290399.11; ENSP00000290399.6; NM_005069.6; NP_005060.1 |
UCSCi | uc002yvr.3, human [Q14190-1] |
Organism-specific databases
CTDi | 6493 |
DisGeNETi | 6493 |
GeneCardsi | SIM2 |
HGNCi | HGNC:10883, SIM2 |
HPAi | ENSG00000159263, Tissue enhanced (esophagus, kidney, skeletal muscle) |
MIMi | 600892, gene |
neXtProti | NX_Q14190 |
OpenTargetsi | ENSG00000159263 |
PharmGKBi | PA35783 |
VEuPathDBi | HostDB:ENSG00000159263 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3559, Eukaryota |
GeneTreei | ENSGT00940000159985 |
HOGENOMi | CLU_010044_4_1_1 |
InParanoidi | Q14190 |
OMAi | SECQWHY |
OrthoDBi | 231698at2759 |
PhylomeDBi | Q14190 |
TreeFami | TF317772 |
Enzyme and pathway databases
PathwayCommonsi | Q14190 |
SignaLinki | Q14190 |
SIGNORi | Q14190 |
Miscellaneous databases
BioGRID-ORCSi | 6493, 10 hits in 1071 CRISPR screens |
ChiTaRSi | SIM2, human |
GeneWikii | SIM2 |
GenomeRNAii | 6493 |
Pharosi | Q14190, Tbio |
PROi | PR:Q14190 |
RNActi | Q14190, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000159263, Expressed in cortex of kidney and 140 other tissues |
ExpressionAtlasi | Q14190, baseline and differential |
Genevisiblei | Q14190, HS |
Family and domain databases
CDDi | cd00130, PAS, 2 hits |
Gene3Di | 4.10.280.10, 1 hit |
InterProi | View protein in InterPro 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 |
Pfami | View protein in Pfam PF00989, PAS, 1 hit PF08447, PAS_3, 1 hit PF06621, SIM_C, 1 hit |
SMARTi | View protein in SMART SM00353, HLH, 1 hit SM00086, PAC, 1 hit SM00091, PAS, 2 hits |
SUPFAMi | SSF47459, SSF47459, 1 hit SSF55785, SSF55785, 2 hits |
PROSITEi | View protein in PROSITE PS50888, BHLH, 1 hit PS50112, PAS, 2 hits PS51302, SIM_C, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | SIM2_HUMAN | |
Accessioni | Q14190Primary (citable) accession number: Q14190 Secondary accession number(s): O60766 Q2TBD8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 1, 1997 |
Last sequence update: | July 15, 1998 | |
Last modified: | May 25, 2022 | |
This is version 206 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 21
Human chromosome 21: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot