Human Gene RHBDD2 (ENST00000006777.11_4) from GENCODE V47lift37
  Description: rhomboid domain containing 2, transcript variant 6 (from RefSeq NM_001346189.2)
Gencode Transcript: ENST00000006777.11_4
Gencode Gene: ENSG00000005486.17_7
Transcript (Including UTRs)
   Position: hg19 chr7:75,508,352-75,518,244 Size: 9,893 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg19 chr7:75,508,401-75,517,667 Size: 9,267 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:75,508,352-75,518,244)mRNA (may differ from genome)Protein (364 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RHBD2_HUMAN
DESCRIPTION: RecName: Full=Rhomboid domain-containing protein 2;
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential).
SIMILARITY: Belongs to the peptidase S54 family.
CAUTION: Although strongly related to the peptidase S54 family, it lacks the conserved active sites, suggesting that it has no peptidase activity.
SEQUENCE CAUTION: Sequence=BAB15503.1; Type=Erroneous initiation;

-  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


-  MalaCards Disease Associations
  MalaCards Gene Search: RHBDD2
Diseases sorted by gene-association score: retinitis pigmentosa (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  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: 185.79 RPKM in Pituitary
Total median expression: 2369.25 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 -19.3049-0.394 Picture PostScript Text
3' UTR -194.40577-0.337 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
IPR022764 - Peptidase_S54_rhomboid_dom

Pfam Domains:
PF01694 - Rhomboid family

SCOP Domains:
144091 - Rhomboid-like

ModBase Predicted Comparative 3D Structure on Q6NTF9
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 orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004252 serine-type endopeptidase activity

Biological Process:
GO:0006508 proteolysis

Cellular Component:
GO:0000139 Golgi membrane
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005794 Golgi apparatus
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0048471 perinuclear region of cytoplasm


-  Descriptions from all associated GenBank mRNAs
  AF226732 - Homo sapiens NPD007 mRNA, complete cds.
BC069017 - Homo sapiens rhomboid domain containing 2, mRNA (cDNA clone MGC:78598 IMAGE:3502576), complete cds.
AK026590 - Homo sapiens cDNA: FLJ22937 fis, clone KAT07960.
BC006234 - Homo sapiens rhomboid domain containing 2, mRNA (cDNA clone IMAGE:3947793), partial cds.
KJ899332 - Synthetic construct Homo sapiens clone ccsbBroadEn_08726 RHBDD2 gene, encodes complete protein.
JD499189 - Sequence 480213 from Patent EP1572962.
JD132501 - Sequence 113525 from Patent EP1572962.
JD270867 - Sequence 251891 from Patent EP1572962.
JD137138 - Sequence 118162 from Patent EP1572962.
JD324255 - Sequence 305279 from Patent EP1572962.
JD371442 - Sequence 352466 from Patent EP1572962.
JD493928 - Sequence 474952 from Patent EP1572962.
JD252494 - Sequence 233518 from Patent EP1572962.
JD232683 - Sequence 213707 from Patent EP1572962.
JD370435 - Sequence 351459 from Patent EP1572962.
JD199705 - Sequence 180729 from Patent EP1572962.
JD261109 - Sequence 242133 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000006777.1, ENST00000006777.10, ENST00000006777.2, ENST00000006777.3, ENST00000006777.4, ENST00000006777.5, ENST00000006777.6, ENST00000006777.7, ENST00000006777.8, ENST00000006777.9, NM_001346189, Q6NTF9, Q7L534, Q9H5W6, Q9HBK7, Q9UDT2, RHBD2_HUMAN, RHBDL7, uc317bwg.1, uc317bwg.2
UCSC ID: ENST00000006777.11_4
RefSeq Accession: NM_001040456.3
Protein: Q6NTF9 (aka RHBD2_HUMAN)

-  Gene Model Information
  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.