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Protein

Single-minded homolog 2

Gene

SIM2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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
  • RNA polymerase II transcription factor activity, sequence-specific DNA binding Source: GO_Central
  • transcription factor activity, sequence-specific DNA binding Source: ProtInc

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, Neurogenesis, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000159263-MONOMER.
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

HGNCiHGNC:10883. SIM2.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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.

Protein-protein interaction databases

BioGridi112384. 8 interactors.
IntActiQ14190. 27 interactors.
MINTiMINT-7006105.
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

Sequence similaritiesi

Contains 1 bHLH (basic helix-loop-helix) domain.PROSITE-ProRule annotation
Contains 2 PAS (PER-ARNT-SIM) domains.PROSITE-ProRule annotation
Contains 1 Single-minded C-terminal domain.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG3559. Eukaryota.
ENOG410XY57. LUCA.
GeneTreeiENSGT00760000118788.
HOVERGENiHBG003936.
InParanoidiQ14190.
KOiK09100.
OMAiHYREEPA.
OrthoDBiEOG091G06FQ.
PhylomeDBiQ14190.
TreeFamiTF317772.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR011598. bHLH_dom.
IPR001610. PAC.
IPR000014. PAS.
IPR013767. PAS_fold.
IPR013655. PAS_fold_3.
IPR010578. SIM_C.
[Graphical view]
PfamiPF00010. HLH. 1 hit.
PF00989. PAS. 1 hit.
PF08447. PAS_3. 1 hit.
PF06621. SIM_C. 1 hit.
[Graphical view]
SMARTiSM00353. HLH. 1 hit.
SM00086. PAC. 1 hit.
SM00091. PAS. 2 hits.
[Graphical view]
SUPFAMiSSF47459. SSF47459. 1 hit.
SSF55785. SSF55785. 2 hits.
PROSITEiPS50888. BHLH. 1 hit.
PS50112. PAS. 2 hits.
PS51302. SIM_C. 1 hit.
[Graphical view]

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 → M.1 PublicationCorresponds to variant rs2073601dbSNPEnsembl.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_005069.4. [Q14190-1]
NP_033664.2. NM_009586.3. [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

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.
CCDSiCCDS13646.1. [Q14190-1]
PIRiA58520.
I78525.
I78526.
RefSeqiNP_005060.1. NM_005069.4. [Q14190-1]
NP_033664.2. NM_009586.3. [Q14190-2]
UniGeneiHs.146186.

3D structure databases

ProteinModelPortaliQ14190.
SMRiQ14190.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112384. 8 interactors.
IntActiQ14190. 27 interactors.
MINTiMINT-7006105.
STRINGi9606.ENSP00000290399.

PTM databases

iPTMnetiQ14190.
PhosphoSitePlusiQ14190.

Polymorphism and mutation databases

BioMutaiSIM2.
DMDMi2851630.

Proteomic databases

MaxQBiQ14190.
PaxDbiQ14190.
PeptideAtlasiQ14190.
PRIDEiQ14190.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi6493.
DisGeNETi6493.
GeneCardsiSIM2.
HGNCiHGNC:10883. SIM2.
HPAiHPA029295.
MIMi600892. gene.
neXtProtiNX_Q14190.
OpenTargetsiENSG00000159263.
PharmGKBiPA35783.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3559. Eukaryota.
ENOG410XY57. LUCA.
GeneTreeiENSGT00760000118788.
HOVERGENiHBG003936.
InParanoidiQ14190.
KOiK09100.
OMAiHYREEPA.
OrthoDBiEOG091G06FQ.
PhylomeDBiQ14190.
TreeFamiTF317772.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000159263-MONOMER.
SIGNORiQ14190.

Miscellaneous databases

GeneWikiiSIM2.
GenomeRNAii6493.
PROiQ14190.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000159263.
CleanExiHS_SIM2.
ExpressionAtlasiQ14190. baseline and differential.
GenevisibleiQ14190. HS.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR011598. bHLH_dom.
IPR001610. PAC.
IPR000014. PAS.
IPR013767. PAS_fold.
IPR013655. PAS_fold_3.
IPR010578. SIM_C.
[Graphical view]
PfamiPF00010. HLH. 1 hit.
PF00989. PAS. 1 hit.
PF08447. PAS_3. 1 hit.
PF06621. SIM_C. 1 hit.
[Graphical view]
SMARTiSM00353. HLH. 1 hit.
SM00086. PAC. 1 hit.
SM00091. PAS. 2 hits.
[Graphical view]
SUPFAMiSSF47459. SSF47459. 1 hit.
SSF55785. SSF55785. 2 hits.
PROSITEiPS50888. BHLH. 1 hit.
PS50112. PAS. 2 hits.
PS51302. SIM_C. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSIM2_HUMAN
AccessioniPrimary (citable) accession number: Q14190
Secondary accession number(s): O60766
, Q15470, Q15471, Q15472, Q15473, Q16532, Q2TBD8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: July 15, 1998
Last modified: November 30, 2016
This is version 168 of the entry and version 2 of the sequence. [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
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.