Human Gene RHBDL2 (ENST00000372990.6) Description and Page Index
  Description: Homo sapiens rhomboid like 2 (RHBDL2), transcript variant 2, mRNA. (from RefSeq NM_017821)
RefSeq Summary (NM_017821): The protein encoded by this gene is a member of the rhomboid family of integral membrane proteins. This family contains proteins that are related to Drosophila rhomboid protein. Members of this family are found in both prokaryotes and eukaryotes and are thought to function as intramembrane serine proteases. The encoded protein is thought to release soluble growth factors by proteolytic cleavage of certain membrane-bound substrates, including ephrin B2 and ephrin B3. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2015].
Gencode Transcript: ENST00000372990.6
Gencode Gene: ENSG00000158315.11
Transcript (Including UTRs)
   Position: hg38 chr1:38,885,807-38,941,830 Size: 56,024 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg38 chr1:38,886,504-38,919,212 Size: 32,709 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsCTDRNA-Seq ExpressionMicroarray Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsOther Names
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr1:38,885,807-38,941,830)mRNA (may differ from genome)Protein (303 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
Stanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Rhomboid-related protein 2; Short=RRP2; EC=; AltName: Full=Rhomboid-like protein 2; Contains: RecName: Full=Rhomboid-related protein 2, N-terminal fragment; Short=NTF; Contains: RecName: Full=Rhomboid-related protein 2, C-terminal fragment; Short=CTF;
FUNCTION: Involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors. Known substrate: EFNB3.
CATALYTIC ACTIVITY: Cleaves type-1 transmembrane domains using a catalytic dyad composed of serine and histidine that are contributed by different transmembrane domains.
SUBCELLULAR LOCATION: Rhomboid-related protein 2, C-terminal fragment: Cell membrane; Multi-pass membrane protein.
PTM: Proteolytic processing of the proenzyme produces a N-terminal fragment (NTF) and a C-terminal fragment (CTF). The processing is required for activation of the protease.
SIMILARITY: Belongs to the peptidase S54 family.
SEQUENCE CAUTION: Sequence=AAH13103.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAA91168.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 8.14 RPKM in Esophagus - Mucosa
Total median expression: 74.00 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 -121.80274-0.445 Picture PostScript Text
3' UTR -191.80697-0.275 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
IPR002610 - Peptidase_S54_rhomboid
IPR022764 - Peptidase_S54_rhomboid_dom
IPR017213 - Peptidase_S54_rhomboid_met

Pfam Domains:
PF01694 - Rhomboid family

ModBase Predicted Comparative 3D Structure on Q9NX52
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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004252 serine-type endopeptidase activity
GO:0008233 peptidase activity
GO:0008236 serine-type peptidase activity
GO:0016787 hydrolase activity

Biological Process:
GO:0006508 proteolysis
GO:0016485 protein processing

Cellular Component:
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane

-  Descriptions from all associated GenBank mRNAs
  AK294115 - Homo sapiens cDNA FLJ56342 complete cds, highly similar to Rhomboid-related protein 2 (EC
BC065247 - Homo sapiens cDNA clone IMAGE:6060926, **** WARNING: chimeric clone ****.
BC013103 - Homo sapiens rhomboid, veinlet-like 2 (Drosophila), mRNA (cDNA clone IMAGE:4343882), complete cds.
AK123230 - Homo sapiens cDNA FLJ41236 fis, clone BRAMY2031377.
JD127876 - Sequence 108900 from Patent EP1572962.
JD152434 - Sequence 133458 from Patent EP1572962.
JD325377 - Sequence 306401 from Patent EP1572962.
JD307092 - Sequence 288116 from Patent EP1572962.
JD434922 - Sequence 415946 from Patent EP1572962.
JD529711 - Sequence 510735 from Patent EP1572962.
JD434923 - Sequence 415947 from Patent EP1572962.
JD529712 - Sequence 510736 from Patent EP1572962.
JD430478 - Sequence 411502 from Patent EP1572962.
JD408192 - Sequence 389216 from Patent EP1572962.
JD425085 - Sequence 406109 from Patent EP1572962.
JD408191 - Sequence 389215 from Patent EP1572962.
JD401645 - Sequence 382669 from Patent EP1572962.
JD401644 - Sequence 382668 from Patent EP1572962.
JD434921 - Sequence 415945 from Patent EP1572962.
BC137108 - Homo sapiens rhomboid, veinlet-like 2 (Drosophila), mRNA (cDNA clone MGC:168728 IMAGE:9021105), complete cds.
BC137110 - Homo sapiens rhomboid, veinlet-like 2 (Drosophila), mRNA (cDNA clone MGC:168730 IMAGE:9021107), complete cds.
BC144476 - Homo sapiens cDNA clone IMAGE:9053003.
BC144477 - Homo sapiens cDNA clone IMAGE:9053004, containing frame-shift errors.
JD217806 - Sequence 198830 from Patent EP1572962.
JD329115 - Sequence 310139 from Patent EP1572962.
JD522283 - Sequence 503307 from Patent EP1572962.
JD070834 - Sequence 51858 from Patent EP1572962.
JD319327 - Sequence 300351 from Patent EP1572962.
JD319326 - Sequence 300350 from Patent EP1572962.
JD533760 - Sequence 514784 from Patent EP1572962.
JD291790 - Sequence 272814 from Patent EP1572962.
AK000442 - Homo sapiens cDNA FLJ20435 fis, clone KAT03864.
AK097621 - Homo sapiens cDNA FLJ40302 fis, clone TESTI2029196, highly similar to Rhomboid-related protein 2 (EC
JD563774 - Sequence 544798 from Patent EP1572962.
AY126343 - Homo sapiens rhomboid-related protein (RHBDL2) mRNA, complete cds.
KJ902721 - Synthetic construct Homo sapiens clone ccsbBroadEn_12115 RHBDL2 gene, encodes complete protein.
CU680494 - Synthetic construct Homo sapiens gateway clone IMAGE:100018516 5' read RHBDL2 mRNA.
LF342519 - JP 2014500723-A/150022: Polycomb-Associated Non-Coding RNAs.
MA578096 - JP 2018138019-A/150022: Polycomb-Associated Non-Coding RNAs.
LF342518 - JP 2014500723-A/150021: Polycomb-Associated Non-Coding RNAs.
MA578095 - JP 2018138019-A/150021: Polycomb-Associated Non-Coding RNAs.
JD087719 - Sequence 68743 from Patent EP1572962.
JD357763 - Sequence 338787 from Patent EP1572962.
JD209192 - Sequence 190216 from Patent EP1572962.
JD172821 - Sequence 153845 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B2RNT3, B9EH75, NM_017821, Q6P175, Q8NER8, Q96E02, Q9NX52, RHBL2_HUMAN, uc001ccu.1, uc001ccu.2
UCSC ID: uc001ccu.2
RefSeq Accession: NM_017821
Protein: Q9NX52 (aka RHBL2_HUMAN)
CCDS: CCDS30680.1

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