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UniProtKB - Q9NX45 (SOLH2_HUMAN)

Protein

Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 2

Gene

SOHLH2

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

Functioni

Transcription regulator of both male and female germline differentiation. Suppresses genes involved in spermatogonial stem cells maintenance, and induces genes important for spermatogonial differentiation. Coordinates oocyte differentiation without affecting meiosis I (By similarity).By similarity

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionDevelopmental protein, DNA-binding
Biological processDifferentiation, Oogenesis, Spermatogenesis, Transcription, Transcription regulation

Names & Taxonomyi

Protein namesi
Recommended name:
Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 2
Gene namesi
Name:SOHLH2
Synonyms:TEB1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 13

Organism-specific databases

EuPathDBiHostDB:ENSG00000120669.15
HGNCiHGNC:26026 SOHLH2
MIMi616066 gene
neXtProtiNX_Q9NX45

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

Cytoplasm, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi54937
OpenTargetsiENSG00000120669
ENSG00000250709
PharmGKBiPA144596273

Polymorphism and mutation databases

BioMutaiSOHLH2
DMDMi166200297

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003157001 – 425Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 2Add BLAST425

Proteomic databases

MaxQBiQ9NX45
PaxDbiQ9NX45
PeptideAtlasiQ9NX45
PRIDEiQ9NX45
ProteomicsDBi83034
83035 [Q9NX45-2]
83036 [Q9NX45-3]

PTM databases

iPTMnetiQ9NX45
PhosphoSitePlusiQ9NX45

Expressioni

Gene expression databases

BgeeiENSG00000120669 Expressed in 96 organ(s), highest expression level in secondary oocyte
CleanExiHS_SOHLH2
GenevisibleiQ9NX45 HS

Organism-specific databases

HPAiHPA029182

Interactioni

Subunit structurei

Forms both hetero- and homodimers with SOHLH1.By similarity

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi120277, 1 interactor
IntActiQ9NX45, 1 interactor
STRINGi9606.ENSP00000451542

Structurei

3D structure databases

ProteinModelPortaliQ9NX45
SMRiQ9NX45
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini201 – 252bHLHPROSITE-ProRule annotationAdd BLAST52

Phylogenomic databases

eggNOGiENOG410IUEE Eukaryota
ENOG410ZGUF LUCA
GeneTreeiENSGT00390000016050
HOGENOMiHOG000070147
HOVERGENiHBG103652
InParanoidiQ9NX45
OrthoDBiEOG091G08ZT
PhylomeDBiQ9NX45
TreeFamiTF336841

Family and domain databases

CDDicd00083 HLH, 1 hit
Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf
IPR032669 SOHLH2
PANTHERiPTHR16223:SF16 PTHR16223:SF16, 1 hit
PfamiView protein in Pfam
PF00010 HLH, 1 hit
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SUPFAMiSSF47459 SSF47459, 1 hit
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q9NX45-1) [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
MASSIICQEH CQISGQAKID ILLVGDVTVG YLADTVQKLF ANIAEVTITI 
        60         70         80         90        100
SDTKEAAALL DDCIFNMVLL KVPSSLSAEE LEAIKLIRFG KKKNTHSLFV 
       110        120        130        140        150
FIIPENFKGC ISGHGMDIAL TEPLTMEKMS NVVKYWTTCP SNTVKTENAT 
       160        170        180        190        200
GPEELGLPLQ RSYSEHLGYF PTDLFACSES LRNGNGLELN ASLSEFEKNK 
       210        220        230        240        250
KISLLHSSKE KLRRERIKYC CEQLRTLLPY VKGRKNDAAS VLEATVDYVK 
       260        270        280        290        300
YIREKISPAV MAQITEALQS NMRFCKKQQT PIELSLPGTV MAQRENSVMS 
       310        320        330        340        350
TYSPERGLQF LTNTCWNGCS TPDAESSLDE AVRVPSSSAS ENAIGDPYKT 
       360        370        380        390        400
HISSAALSLN SLHTVRYYSK VTPSYDATAV TNQNISIHLP SAMPPVSKLL 
       410        420 
PRHCTSGLGQ TCTTHPNCLQ QFWAY
Length:425
Mass (Da):46,941
Last modified:January 15, 2008 - v2
Checksum:iA104DDC11ABD241E
GO
Isoform 2 (identifier: Q9NX45-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     215-225: ERIKYCCEQLR → LYRKHSSFCFW
     226-425: Missing.

Note: No experimental confirmation available.
Show »
Length:225
Mass (Da):25,058
Checksum:iB6A72EB05C440E07
GO
Isoform 3 (identifier: Q9NX45-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-16: MASSIICQEHCQISGQ → METLQESLNT...LLKEELDPLK

Note: No experimental confirmation available.
Show »
Length:502
Mass (Da):56,199
Checksum:iE34FE232749ABFB5
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti211K → N in BAA91175 (PubMed:14702039).Curated1
Sequence conflicti211K → N in AAW78547 (Ref. 5) Curated1
Sequence conflicti312T → A in BAA91175 (PubMed:14702039).Curated1
Sequence conflicti312T → A in AAW78547 (Ref. 5) Curated1
Sequence conflicti403H → Y in BAA91175 (PubMed:14702039).Curated1
Sequence conflicti403H → Y in AAW78547 (Ref. 5) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03828314S → L. Corresponds to variant dbSNP:rs12873478Ensembl.1
Natural variantiVAR_038284339A → T. Corresponds to variant dbSNP:rs2296968Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0424231 – 16MASSI…QISGQ → METLQESLNTLLKQLEEEKK TLESQVKYYALKLEQESKAY QKINNERRTYLAEMSQGSGL HQVSKRQQVDQLPRMQENLV KTLLLKEELDPLK in isoform 3. 1 PublicationAdd BLAST16
Alternative sequenceiVSP_030652215 – 225ERIKYCCEQLR → LYRKHSSFCFW in isoform 2. 1 PublicationAdd BLAST11
Alternative sequenceiVSP_030653226 – 425Missing in isoform 2. 1 PublicationAdd BLAST200

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000456 mRNA Translation: BAA91175.1
AK301863 mRNA Translation: BAG63302.1
AL139377 Genomic DNA No translation available.
AL160392 Genomic DNA No translation available.
CH471075 Genomic DNA Translation: EAX08554.1
CH471075 Genomic DNA Translation: EAX08555.1
BC025383 mRNA Translation: AAH25383.1
AY884305 mRNA Translation: AAW78547.1
CCDSiCCDS61309.1 [Q9NX45-2]
CCDS9355.1 [Q9NX45-1]
RefSeqiNP_001185839.1, NM_001198910.1 [Q9NX45-3]
NP_001269076.1, NM_001282147.1 [Q9NX45-2]
NP_060296.2, NM_017826.2 [Q9NX45-1]
UniGeneiHs.124519

Genome annotation databases

EnsembliENST00000317764; ENSP00000326838; ENSG00000120669 [Q9NX45-2]
ENST00000379881; ENSP00000369210; ENSG00000120669 [Q9NX45-1]
GeneIDi100526761
54937
KEGGihsa:100526761
hsa:54937
UCSCiuc001uvj.3 human [Q9NX45-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000456 mRNA Translation: BAA91175.1
AK301863 mRNA Translation: BAG63302.1
AL139377 Genomic DNA No translation available.
AL160392 Genomic DNA No translation available.
CH471075 Genomic DNA Translation: EAX08554.1
CH471075 Genomic DNA Translation: EAX08555.1
BC025383 mRNA Translation: AAH25383.1
AY884305 mRNA Translation: AAW78547.1
CCDSiCCDS61309.1 [Q9NX45-2]
CCDS9355.1 [Q9NX45-1]
RefSeqiNP_001185839.1, NM_001198910.1 [Q9NX45-3]
NP_001269076.1, NM_001282147.1 [Q9NX45-2]
NP_060296.2, NM_017826.2 [Q9NX45-1]
UniGeneiHs.124519

3D structure databases

ProteinModelPortaliQ9NX45
SMRiQ9NX45
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120277, 1 interactor
IntActiQ9NX45, 1 interactor
STRINGi9606.ENSP00000451542

PTM databases

iPTMnetiQ9NX45
PhosphoSitePlusiQ9NX45

Polymorphism and mutation databases

BioMutaiSOHLH2
DMDMi166200297

Proteomic databases

MaxQBiQ9NX45
PaxDbiQ9NX45
PeptideAtlasiQ9NX45
PRIDEiQ9NX45
ProteomicsDBi83034
83035 [Q9NX45-2]
83036 [Q9NX45-3]

Protocols and materials databases

DNASUi54937
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000317764; ENSP00000326838; ENSG00000120669 [Q9NX45-2]
ENST00000379881; ENSP00000369210; ENSG00000120669 [Q9NX45-1]
GeneIDi100526761
54937
KEGGihsa:100526761
hsa:54937
UCSCiuc001uvj.3 human [Q9NX45-1]

Organism-specific databases

CTDi100526761
54937
DisGeNETi54937
EuPathDBiHostDB:ENSG00000120669.15
GeneCardsiSOHLH2
HGNCiHGNC:26026 SOHLH2
HPAiHPA029182
MIMi616066 gene
neXtProtiNX_Q9NX45
OpenTargetsiENSG00000120669
ENSG00000250709
PharmGKBiPA144596273
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IUEE Eukaryota
ENOG410ZGUF LUCA
GeneTreeiENSGT00390000016050
HOGENOMiHOG000070147
HOVERGENiHBG103652
InParanoidiQ9NX45
OrthoDBiEOG091G08ZT
PhylomeDBiQ9NX45
TreeFamiTF336841

Miscellaneous databases

ChiTaRSiSOHLH2 human
PROiPR:Q9NX45
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000120669 Expressed in 96 organ(s), highest expression level in secondary oocyte
CleanExiHS_SOHLH2
GenevisibleiQ9NX45 HS

Family and domain databases

CDDicd00083 HLH, 1 hit
Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf
IPR032669 SOHLH2
PANTHERiPTHR16223:SF16 PTHR16223:SF16, 1 hit
PfamiView protein in Pfam
PF00010 HLH, 1 hit
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SUPFAMiSSF47459 SSF47459, 1 hit
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiSOLH2_HUMAN
AccessioniPrimary (citable) accession number: Q9NX45
Secondary accession number(s): B4DX90
, Q5EGC3, Q8TC74, Q96QX4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: January 15, 2008
Last modified: November 7, 2018
This is version 128 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
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