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Protein

Single-minded homolog 2

Gene

SIM2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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
  • protein heterodimerization activity Source: Ensembl
  • RNA polymerase II transcription factor activity, sequence-specific DNA binding Source: NTNU_SB

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, DNA-binding
Biological processDifferentiation, Neurogenesis, Transcription, Transcription regulation

Enzyme and pathway databases

SIGNORiQ14190

Names & Taxonomyi

Protein namesi
Recommended name:
Single-minded homolog 2
Alternative name(s):
Class E basic helix-loop-helix protein 15
Short name:
bHLHe15
Gene namesi
Name:SIM2
Synonyms:BHLHE15
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 21

Organism-specific databases

EuPathDBiHostDB:ENSG00000159263.15
HGNCiHGNC:10883 SIM2
MIMi600892 gene
neXtProtiNX_Q14190

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi367R → A or G: Reduced nuclear translocation. 1 Publication1
Mutagenesisi368K → A: No effect on nuclear translocation. 1 Publication1
Mutagenesisi369L → A: No effect on nuclear translocation. 1 Publication1
Mutagenesisi370V → A: No effect on nuclear translocation. 1 Publication1
Mutagenesisi371K → A: No effect on nuclear translocation. 1 Publication1
Mutagenesisi372P → A: No effect on nuclear translocation. 1 Publication1
Mutagenesisi373K → A or G: Reduced nuclear translocation. 1 Publication1
Mutagenesisi375T → A: No effect on nuclear translocation. 1 Publication1
Mutagenesisi376K → A: No effect on nuclear translocation. 1 Publication1
Mutagenesisi377M → A: No effect on nuclear translocation. 1 Publication1
Mutagenesisi378K → G: No effect on nuclear translocation. 1 Publication1
Mutagenesisi379T → A: No effect on nuclear translocation. 1 Publication1
Mutagenesisi380K → A: No effect on nuclear translocation. 1 Publication1
Mutagenesisi381L → A: No effect on nuclear translocation. 1 Publication1
Mutagenesisi382R → A: No effect on nuclear translocation. 1 Publication1
Mutagenesisi383T → A: No effect on nuclear translocation. 1 Publication1
Mutagenesisi385P → A: Reduced nuclear translocation. 1 Publication1
Mutagenesisi386Y → A: Reduced nuclear translocation. 1 Publication1

Organism-specific databases

DisGeNETi6493
OpenTargetsiENSG00000159263
PharmGKBiPA35783

Polymorphism and mutation databases

BioMutaiSIM2
DMDMi2851630

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001274411 – 667Single-minded homolog 2Add BLAST667

Proteomic databases

MaxQBiQ14190
PaxDbiQ14190
PeptideAtlasiQ14190
PRIDEiQ14190

PTM databases

iPTMnetiQ14190
PhosphoSitePlusiQ14190

Expressioni

Gene expression databases

BgeeiENSG00000159263
CleanExiHS_SIM2
ExpressionAtlasiQ14190 baseline and differential
GenevisibleiQ14190 HS

Organism-specific databases

HPAiHPA029295

Interactioni

Subunit structurei

Efficient DNA binding requires dimerization with another bHLH protein. Heterodimer of SIM2 and ARNT.

GO - Molecular functioni

Protein-protein interaction databases

BioGridi112384, 8 interactors
IntActiQ14190, 27 interactors
MINTiQ14190
STRINGi9606.ENSP00000290399

Structurei

3D structure databases

ProteinModelPortaliQ14190
SMRiQ14190
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini1 – 53bHLHPROSITE-ProRule annotationAdd BLAST53
Domaini77 – 149PAS 1PROSITE-ProRule annotationAdd BLAST73
Domaini218 – 288PAS 2PROSITE-ProRule annotationAdd BLAST71
Domaini292 – 335PACAdd BLAST44
Domaini336 – 667Single-minded C-terminalPROSITE-ProRule annotationAdd BLAST332

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi367 – 386Nuclear localization signal1 PublicationAdd BLAST20

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG3559 Eukaryota
ENOG410XY57 LUCA
GeneTreeiENSGT00760000118788
HOVERGENiHBG003936
InParanoidiQ14190
KOiK09100
OMAiWHYANPL
OrthoDBiEOG091G06FQ
PhylomeDBiQ14190
TreeFamiTF317772

Family and domain databases

CDDicd00083 HLH, 1 hit
cd00130 PAS, 2 hits
Gene3Di4.10.280.10, 1 hit
InterProiView 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
PfamiView protein in Pfam
PF00010 HLH, 1 hit
PF00989 PAS, 1 hit
PF08447 PAS_3, 1 hit
PF06621 SIM_C, 1 hit
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SM00086 PAC, 1 hit
SM00091 PAS, 2 hits
SUPFAMiSSF47459 SSF47459, 1 hit
SSF55785 SSF55785, 2 hits
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit
PS50112 PAS, 2 hits
PS51302 SIM_C, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform SIM2 (identifier: Q14190-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:667
Mass (Da):73,219
Last modified:July 15, 1998 - v2
Checksum:iA100880541A74E6B
GO
Isoform SIM2S (identifier: Q14190-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     526-570: APAAAVRRFG...ARQAARDGAR → GGSGLLVGKV...GQTCPLSASK
     571-667: Missing.

Show »
Length:570
Mass (Da):63,523
Checksum:i8C68F4B8FD2823B0
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti183 – 184IH → RI in BAA07909 (PubMed:7647800).Curated2
Sequence conflicti453V → F in AAB62397 (PubMed:9503011).Curated1
Sequence conflicti453V → F in CAA05055 (PubMed:9503011).Curated1
Sequence conflicti526A → G in AAB62397 (PubMed:9503011).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_024281483L → M1 PublicationCorresponds to variant dbSNP:rs2073601Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_002148526 – 570APAAA…RDGAR → GGSGLLVGKVGGLRTAGSRS SHGGGWQMETEPSRFGQTCP LSASK in isoform SIM2S. 2 PublicationsAdd BLAST45
Alternative sequenceiVSP_012767571 – 667Missing in isoform SIM2S. 2 PublicationsAdd BLAST97

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
CCDSiCCDS13646.1 [Q14190-1]
PIRiA58520
I78525
I78526
RefSeqiNP_005060.1, NM_005069.5 [Q14190-1]
NP_033664.2, NM_009586.4 [Q14190-2]
UniGeneiHs.146186

Genome annotation databases

EnsembliENST00000290399; ENSP00000290399; ENSG00000159263 [Q14190-1]
GeneIDi6493
KEGGihsa:6493
UCSCiuc002yvr.3 human [Q14190-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Entry informationi

Entry nameiSIM2_HUMAN
AccessioniPrimary (citable) accession number: Q14190
Secondary accession number(s): O60766
, Q15470, Q15471, Q15472, Q15473, Q16532, Q2TBD8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: July 15, 1998
Last modified: May 23, 2018
This is version 182 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 21
    Human chromosome 21: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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