Human Gene SOHLH2 (uc001uvj.3)
  Description: Homo sapiens spermatogenesis and oogenesis specific basic helix-loop-helix 2 (SOHLH2), mRNA.
RefSeq Summary (NM_017826): This gene encodes one of testis-specific transcription factors which are essential for spermatogenesis, oogenesis and folliculogenesis. This gene is located on chromosome 13. The proteins encoded by this gene and another testis-specific transcription factor, SOHLH1, can form heterodimers, in addition to homodimers. There is a read-through locus (GeneID: 100526761) that shares sequence identity with this gene and the upstream CCDC169 (GeneID: 728591). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013].
Transcript (Including UTRs)
   Position: hg19 chr13:36,742,345-36,788,752 Size: 46,408 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg19 chr13:36,743,171-36,788,663 Size: 45,493 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr13:36,742,345-36,788,752)mRNA (may differ from genome)Protein (425 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedTreefamUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SOLH2_HUMAN
DESCRIPTION: RecName: Full=Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 2;
FUNCTION: Probable transcription factor, which may be involved in spermatogenesis and oogenesis (By similarity).
SUBCELLULAR LOCATION: Nucleus (By similarity).
SIMILARITY: Contains 1 bHLH (basic helix-loop-helix) domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): SOHLH2
CDC HuGE Published Literature: SOHLH2
Positive Disease Associations: Blood Pressure Determination
Related Studies:
  1. Blood Pressure Determination
    , , . [PubMed 0]

-  MalaCards Disease Associations
  MalaCards Gene Search: SOHLH2
Diseases sorted by gene-association score: giardiasis (5)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 0.21 RPKM in Testis
Total median expression: 0.74 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -41.0089-0.461 Picture PostScript Text
3' UTR -185.91826-0.225 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011598 - HLH_dom

Pfam Domains:
PF00010 - Helix-loop-helix DNA-binding domain

SCOP Domains:
47459 - HLH, helix-loop-helix DNA-binding domain

ModBase Predicted Comparative 3D Structure on Q9NX45
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001046 core promoter sequence-specific DNA binding
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding
GO:0003677 DNA binding
GO:0042803 protein homodimerization activity
GO:0046982 protein heterodimerization activity
GO:0046983 protein dimerization activity

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006366 transcription from RNA polymerase II promoter
GO:0007275 multicellular organism development
GO:0007283 spermatogenesis
GO:0009994 oocyte differentiation
GO:0030154 cell differentiation
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048477 oogenesis

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm


-  Descriptions from all associated GenBank mRNAs
  AK301863 - Homo sapiens cDNA FLJ57222 complete cds.
LF206119 - JP 2014500723-A/13622: Polycomb-Associated Non-Coding RNAs.
AK000456 - Homo sapiens cDNA FLJ20449 fis, clone KAT05575.
HM005590 - Homo sapiens clone HTL-S-50 testicular secretory protein Li 50 mRNA, complete cds.
HM005591 - Homo sapiens clone HTL-S-51 testicular secretory protein Li 51 mRNA, complete cds.
JD297254 - Sequence 278278 from Patent EP1572962.
AY884305 - Homo sapiens TEB1 (TEB1) mRNA, partial cds.
JD103714 - Sequence 84738 from Patent EP1572962.
JD385859 - Sequence 366883 from Patent EP1572962.
JD438776 - Sequence 419800 from Patent EP1572962.
JD344311 - Sequence 325335 from Patent EP1572962.
JD556516 - Sequence 537540 from Patent EP1572962.
JD082248 - Sequence 63272 from Patent EP1572962.
JD439131 - Sequence 420155 from Patent EP1572962.
JD245904 - Sequence 226928 from Patent EP1572962.
JD528875 - Sequence 509899 from Patent EP1572962.
AB527575 - Synthetic construct DNA, clone: pF1KB6669, Homo sapiens SOHLH2 gene for spermatogenesis and oogenesis specific basic helix-loop-helix 2, without stop codon, in Flexi system.
LF351583 - JP 2014500723-A/159086: Polycomb-Associated Non-Coding RNAs.
LF351582 - JP 2014500723-A/159085: Polycomb-Associated Non-Coding RNAs.
BC025383 - Homo sapiens spermatogenesis and oogenesis specific basic helix-loop-helix 2, mRNA (cDNA clone MGC:26186 IMAGE:4829809), complete cds.
KJ902722 - Synthetic construct Homo sapiens clone ccsbBroadEn_12116 SOHLH2 gene, encodes complete protein.
LF351581 - JP 2014500723-A/159084: Polycomb-Associated Non-Coding RNAs.
LF351580 - JP 2014500723-A/159083: Polycomb-Associated Non-Coding RNAs.
LF351578 - JP 2014500723-A/159081: Polycomb-Associated Non-Coding RNAs.
LF351577 - JP 2014500723-A/159080: Polycomb-Associated Non-Coding RNAs.
LF351576 - JP 2014500723-A/159079: Polycomb-Associated Non-Coding RNAs.
MA587160 - JP 2018138019-A/159086: Polycomb-Associated Non-Coding RNAs.
MA587159 - JP 2018138019-A/159085: Polycomb-Associated Non-Coding RNAs.
MA587158 - JP 2018138019-A/159084: Polycomb-Associated Non-Coding RNAs.
MA587157 - JP 2018138019-A/159083: Polycomb-Associated Non-Coding RNAs.
MA587155 - JP 2018138019-A/159081: Polycomb-Associated Non-Coding RNAs.
MA587154 - JP 2018138019-A/159080: Polycomb-Associated Non-Coding RNAs.
MA587153 - JP 2018138019-A/159079: Polycomb-Associated Non-Coding RNAs.
MA441696 - JP 2018138019-A/13622: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: B4DX90, NM_017826, NP_060296, Q5EGC3, Q8TC74, Q96QX4, Q9NX45, SOLH2_HUMAN, TEB1
UCSC ID: uc001uvj.3
RefSeq Accession: NM_017826
Protein: Q9NX45 (aka SOLH2_HUMAN)
CCDS: CCDS9355.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_017826.2
exon count: 11CDS single in 3' UTR: no RNA size: 2198
ORF size: 1278CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2756.00frame shift in genome: no % Coverage: 99.77
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.