Home
GeneCards Guide
Suite
- MalaCards
- GeneALaCart
- GeneAnalytics
- GeneLoc
- GenesLikeMe
- VarElect
- PathCards
Terms of Use
- Terms of Use
- 3rd Party Notice
About Us
- GeneCards Team
- Our Publications
- Citing GeneCards
- Licensing Agreement
- Weizmann Institute
- LifeMap Sciences Inc
User Feedback
GeneCards Plus
- Premium Tools
  
  Learn more

Set Analyses:

VarElect

Advanced Search

RHBDL3 Gene

protein-coding GIFtS: 46
GCID: GC17P030593

Rhomboid, Veinlet-Like 3 (Drosophila)

(Previous names: rhomboid, veinlet-like 4 (Drosophila))
(Previous symbol: RHBDL4)

Try our

MalaCards

disease database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

TryGeneCards Plus

Aliases
Rhomboid, Veinlet-Like 3 (Drosophila)¹ ²		EC 3.4.21.105³ ⁸
RHBDL4¹ ² ³		Rhomboid, Veinlet-Like 4 (Drosophila)¹
Ventrhoid Transmembrane Protein² ³		Rhomboid, Veinlet-Like 4²
VRHO² ³		Rhomboid-Related Protein 3²

External Ids:	HGNC: 16502¹	Entrez Gene: 162494²	Ensembl: ENSG00000141314⁷	UniProtKB: P58872³

Export aliases for RHBDL3 gene to outside databases

Previous GC identifers: GC00U991136 GC17P027618 GC17P026782

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

GeneCards Summary for RHBDL3 Gene:

RHBDL3 (rhomboid, veinlet-like 3 (Drosophila)) is a protein-coding gene. GO annotations related to this gene include serine-type endopeptidase activity and calcium ion binding. An important paralog of this gene is RHBDL2.

UniProtKB/Swiss-Prot: RHBL3_HUMAN, P58872

Function: May be involved in regulated intramembrane proteolysis and the subsequent release of functional

polypeptides from their membrane anchors (By similarity)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus

RefSeq DNA sequence at NCBI GenBank:

NC_000017.10 NT_010783.16 NC_018928.2

Regulatory elements:

Regulatory transcription factor binding sites in the RHBDL3 gene promoter:
STAT1 NF-1 p53 NRSF form 1 STAT1beta STAT5A NRSF form 2 STAT1alpha POU2F1 HOXA5
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: RHBDL3 promoter sequence

Search Chromatin IP Primers for RHBDL3

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RHBDL3

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q11.2 Ensembl cytogenetic band: 17q11.2 HGNC cytogenetic band: 17q11.2

RHBDL3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RHBDL3 gene location

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17P030593: view genomic region (about GC identifiers)

Start:	30,593,195 bp from pter	End:	30,651,680 bp from pter
Size:	58,486 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: RHBL3_HUMAN, P58872 (See protein sequence)

Recommended Name: Rhomboid-related protein 3

Size: 404 amino acids; 45245 Da

Secondary accessions: A6NMH1 Q495Y6

Explore the universe of human proteins at neXtProt for RHBDL3: NX_P58872

Explore proteomics data for RHBDL3 at MOPED

Post-translational modifications:

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

2 DME Specific Peptides for RHBDL3 (P58872)

GRAVWLRF

GVPLEMVHG

See RHBDL3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_612201.1

ENSEMBL proteins:

ENSP00000463941 ENSP00000394849 ENSP00000269051 ENSP00000442092 ENSP00000466508

RHBDL3 Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene Protein Over-expression Lysate for RHBDL3 OriGene Custom MassSpec OriGene Custom Protein Services for RHBDL3
	GenScript Custom Purified and Recombinant Proteins Services for RHBDL3
	Novus Biologicals RHBDL3 Protein Novus Biologicals RHBDL3 Lysate
	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	Browse ProSpec Recombinant Proteins
	Cloud-Clone Corp. Proteins for RHBDL3
	Search eBioscience for Proteins for RHBDL3
	antibodies-online proteins for RHBDL3 (2 products)
	Search antibodies-online for peptides for RHBDL3

RHBDL3 Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse R&D Systems for Antibodies
	Browse OriGene Antibodies OriGene Custom Antibody Services for RHBDL3
	Novus Biologicals RHBDL3 Antibody
	Search for Antibodies for RHBDL3 at Abcam
	Cloud-Clone Corp. Antibodies for RHBDL3
	Search ThermoFisher Antibodies for RHBDL3
	Search antibodies-online for antibodies for RHBDL3

RHBDL3 Assay Products:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Assay Services for RHBDL3
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for RHBDL3
	Browse Enzo Life Sciences for kits & assays
	Cloud-Clone Corp. ELISAs for RHBDL3 Cloud-Clone Corp. CLIAs for RHBDL3
	Search eBioscience for ELISAs for RHBDL3
	antibodies-online kits for RHBDL3 (4 products)

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

TryGeneCards Plus

HGNC Gene Families:

EFHAND: EF-hand domain containing

5 InterPro protein domains:

IPR011992 EF-hand-dom_pair

IPR002048 EF_hand_dom

IPR022764 Peptidase_S54_rhomboid_dom

IPR002610 Peptidase_S54_rhomboid

IPR017213 Peptidase_S54_rhomboid_met

Graphical View of Domain Structure for InterPro Entry P58872

ProtoNet protein and cluster: P58872

1 Blocks protein domain: IPB002610 Rhomboid-like protein

UniProtKB/Swiss-Prot: RHBL3_HUMAN, P58872

Similarity: Belongs to the peptidase S54 family

Similarity: Contains 2 EF-hand domains

Find genes that share domains with RHBDL3 About GenesLikeMe

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
About This Section

TryGeneCards Plus

Molecular Function:

UniProtKB/Swiss-Prot Summary: RHBL3_HUMAN, P58872

Function: May be involved in regulated intramembrane proteolysis and the subsequent release of functional

polypeptides from their membrane anchors (By similarity)

Catalytic activity: Cleaves type-1 transmembrane domains using a catalytic dyad composed of serine and histidine

that are contributed by different transmembrane domains

Enzyme Number (IUBMB): EC 3.4.21.105¹ ²

Gene Ontology (GO): 2 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004252	serine-type endopeptidase activity	IEA	--
GO:0005509	calcium ion binding	IEA	--

Find genes that share ontologies with RHBDL3 About GenesLikeMe

Phenotypes:
1 MGI phenotypic allele

for Rhbdl3 (no phenotypes)

Find genes that share phenotypes with RHBDL3 About GenesLikeMe

Animal Models:

genOway: Develop your customized and physiologically relevant rodent model for RHBDL3

miRNA Products:		miRTarBase miRNAs that target RHBDL3: hsa-mir-615-3p (MIRT039850)

		Block miRNA regulation of human, mouse, rat RHBDL3 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate RHBDL3 (see all 34):
		hsa-miR-3685 hsa-miR-1321 hsa-miR-330-5p hsa-miR-3162-5p hsa-miR-3667-5p hsa-miR-124 hsa-miR-629* hsa-miR-326

		SwitchGear 3'UTR luciferase reporter plasmid: RHBDL3 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for RHBDL3
		Predesigned siRNA for gene silencing in human, mouse, rat RHBDL3

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for RHBDL3

Clone Products:		OriGene clones in human, mouse for RHBDL3 (see all 7) OriGene ORF clones in mouse, rat for RHBDL3 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: RHBDL3 (NM_138328)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for RHBDL3
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RHBDL3

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for RHBDL3
		Browse ESI BIO Cell Lines and PureStem Progenitors for RHBDL3

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RHBDL3

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
About This Section

TryGeneCards Plus

Subcellular locations from UniProtKB/Swiss-Prot

RHBL3_HUMAN, P58872: Membrane; Multi-pass membrane protein (Probable)

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
plasma membrane	3
endoplasmic reticulum	1
nucleus	1
peroxisome	1

About this image

Gene Ontology (GO): 1 cellular component term: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0016021	integral component of membrane	IEA	--

Find genes that share ontologies with RHBDL3 About GenesLikeMe

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
About This Section

TryGeneCards Plus

Custom Pathway & Disease-focused RT² Profiler PCR Arrays for RHBDL3
Interactions:

Search GeneGlobe Interaction Network for RHBDL3

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for RHBDL3 (P58872³ ENSP00000269051⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 37)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
BMP4	P12644³, ENSP00000245451⁴	I2D: score=1 STRING: ENSP00000245451
CHRD	Q9H2X0³, ENSP00000204604⁴	I2D: score=1 STRING: ENSP00000204604
ETV6	P41212³, ENSP00000266427⁴	I2D: score=1 STRING: ENSP00000266427
NOTCH2	Q04721³, ENSP00000256646⁴	I2D: score=1 STRING: ENSP00000256646
CTNNB1	P35222³	I2D: score=1

About this table

Gene Ontology (GO): 1 biological process term: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006508	proteolysis	--	--

Find genes that share ontologies with RHBDL3 About GenesLikeMe

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
About This Section

TryGeneCards Plus

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for RHBDL3 (RHBL3)

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
About This Section

TryGeneCards Plus

REFSEQ mRNAs for RHBDL3 gene:

NM_138328.2

Unigene Cluster for RHBDL3:

Rhomboid, veinlet-like 3 (Drosophila)

Hs.655027 [show with all ESTs]

Unigene Representative Sequence: NM_138328

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000578006 ENST00000431505 ENST00000269051(uc002hhe.1 uc010csw.1 uc010csx.1 uc010csy.1)

ENST00000538145 ENST00000536287(uc002hhf.1) ENST00000582967

miRNA Products:		Block miRNA regulation of human, mouse, rat RHBDL3 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate RHBDL3 (see all 34):
		hsa-miR-3685 hsa-miR-1321 hsa-miR-330-5p hsa-miR-3162-5p hsa-miR-3667-5p hsa-miR-124 hsa-miR-629* hsa-miR-326

		SwitchGear 3'UTR luciferase reporter plasmid: RHBDL3 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for RHBDL3
		Predesigned siRNA for gene silencing in human, mouse, rat RHBDL3

Clone Products:		OriGene clones in human, mouse for RHBDL3 (see all 7) OriGene ORF clones in mouse, rat for RHBDL3 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: RHBDL3 (NM_138328)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for RHBDL3
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RHBDL3

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for RHBDL3
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat RHBDL3
		QuantiTect SYBR Green Assays in human, mouse, rat RHBDL3
		QuantiFast Probe-based Assays in human, mouse, rat RHBDL3

Additional mRNA sequence:

AJ313480.1 AK124570.1 AK127490.1 AL133573.1 BC016953.1 BC100975.1 BC100976.1 BC100977.1

BC100978.1 BX647302.1

6 DOTS entries:

DT.40115544 DT.112050 DT.92031890 DT.120900932 DT.75115271 DT.95079942

Selected AceView cDNA sequences (see all 46):

AK124570 BE047684 T16542 AI859187 BC016953 BM717083 AI369789 BX647302

AJ313480 BE904095 AA235710 NM_138328 BM674460 AI197876 BM988137 AK127490

BE220111 BM695873 BE252504 BE221904 BM666952 AI694520 AI828116 BM011465

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for RHBDL3 About this scheme

ExUns:	1	^	2	^	3a	·	3b	^	4	^	5	^	6a	·	6b	^	7	^	8	^	9a	·	9b	^	10a	·	10b
SP1:			-		-				-
SP2:
SP3:					-		-		-
SP4:									-				-

ECgene alternative splicing isoforms for RHBDL3

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

TryGeneCards Plus

RHBDL3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TTGCTCCCCG

About this image

RHBDL3 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 3) fully expand


Neural Tube (Nervous System) fully expand to see all 3 entries
Roof Plate Cells Mesencephalic Roof Plate
Mesencephalic Roof Plate

Neural Ectoderm (Nervous System)
Neural ectoderm cells

Eye (Sensory Organs)

RHBDL3 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

RHBDL3 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.655027

Custom PCR Arrays for RHBDL3

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for RHBDL3
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat RHBDL3
		QuantiTect SYBR Green Assays in human, mouse, rat RHBDL3
		QuantiFast Probe-based Assays in human, mouse, rat RHBDL3

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RHBDL3

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

TryGeneCards Plus

This gene was present in the common ancestor of animals.

Orthologs for RHBDL3 gene from Selected species (see all 14) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Rhbdl3^{1 , 5}	rhomboid, veinlet-like 3 (Drosophila)^{1, 5}	90.69(n)¹ 95.69(a)¹		11 (47.73 cM)⁵ 246104¹ NM_139228.3¹ NP_631974.1¹ 80300912⁵
chicken (Gallus gallus)	Aves	RHBDL3¹	rhomboid, veinlet-like 3 (Drosophila)	77.52(n) 85.83(a)		417411 XM_004946181.1 XP_004946238.1
lizard (Anolis carolinensis)	Reptilia	RHBDL3⁶	rhomboid, veinlet-like 3 (Drosophila)	86(a)	1 ↔ 1	GL343198.1(1716909-1796159)
tropical clawed frog (Xenopus tropicalis)	Amphibia	LOC101732375¹	rhomboid-related protein 3-like	73.87(n) 76(a)		101732375 XM_004920714.1 XP_004920771.1
zebrafish (Danio rerio)	Actinopterygii	wufb98c11²	Transcribed sequence with weak similarity to protein more	75.49(n)		AL726021.1
fruit fly (Drosophila melanogaster)	Insecta	stet¹	stem cell tumor	52.87(n) 44.25(a)		38169 NM_176272.2 NP_788450.1

ENSEMBL Gene Tree for RHBDL3 (if available)
TreeFam Gene Tree for RHBDL3 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

TryGeneCards Plus

Paralogs for RHBDL3 gene

RHBDL2² RHBDL1²

2 SIMAP similar genes for RHBDL3 using alignment to 5 protein entries: RHBL3_HUMAN (see all proteins):

RHBDL1 RHBDL2

Find genes that share paralogs with RHBDL3 About GenesLikeMe

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
About This Section

TryGeneCards Plus

SNP ID	Valid	Clinical significance	Chr 17 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs188533098^1,2		--	30591199(+)	`AATACA/GTGTTC`	1	--	us2k¹		0	--	--	--	--
rs58099756^1,2	C	--	30591266(+)	`ATATG-/TTGATA`	1	--	us2k¹		0	--	--	--	--
rs36096767^1,2	C	--	30591306(+)	`CTCCCA/-TGGGT`	1	--	us2k¹		2		NA CSA	4
rs66494349^1,2	C	--	30591307(+)	`TCCCT-/AGGGTA`	1	--	us2k¹		0	--	--	--	--
rs9915042^1,2	C,F,A,H	--	30591380(+)	`GTGCCC/TTTCTC`	1	--	us2k¹ trp³		11		NA WA CSA EA	374
rs142652511^1,2		--	30591476(+)	`TCATGC/TAAATG`	1	--	us2k¹		0	--	--	--	--
rs57171938^1,2	C,F	--	30591524(+)	`GGGCCC/GCAGCG`	1	--	us2k¹		1		WA	118
rs12451338^1,2	C,F,H	--	30591529(+)	`CCAGCA/GGTCAT`	1	--	us2k¹		14		NA WA CSA EA	378
rs117978214^1,2	C,F	--	30591706(+)	`AAATAG/ATTGAA`	1	--	us2k¹		1		EA	120
rs76989870^1,2	C,F	--	30591764(+)	`ACTCAC/ACTAAT`	1	--	us2k¹		1		EA	120

HapMap Linkage Disequilibrium report for RHBDL3 (30593195 - 30651680 bp)

Structural Variations
Database of Genomic Variants (DGV) 10 variations for RHBDL3: About this table

Variant ID	Type	Subtype	PubMed ID
esv2715834	CNV	Deletion	23290073
esv1001216	CNV	Deletion	20482838
esv2238058	CNV	Deletion	18987734
esv2715835	CNV	Deletion	23290073
esv2672269	CNV	Deletion	23128226
esv2621296	CNV	Insertion	19546169
nsv908068	CNV	Gain	21882294
nsv827949	CNV	Gain	20364138
nsv908069	CNV	Gain	21882294
esv29073	CNV	Gain	19812545

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing RHBDL3

DNA2.0 Custom Variant and Variant Library Synthesis for RHBDL3

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

TryGeneCards Plus

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

TryGeneCards Plus

PubMed articles for RHBDL3 gene integrated from 10 sources:
(articles sorted by number of sources associating them with RHBDL3)

Utopia: connect your pdf to the dynamic
world of online information

Cloning and expression of Ventrhoid, a novel vertebrate homologue of the Drosophila EGF pathway gene Rhomboid. (PubMed id 11900977)^{1, 2, 3} Jaszai J. and Brand M. (Mech. Dev. 2002)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S.... Malek J. (Genome Res. 2004)
Ubiquitin-dependent intramembrane rhomboid protease promotes ERAD of membrane proteins. (PubMed id 22795130)¹ Fleig L....Lemberg M.K. (Mol. Cell 2012)
DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)² Zody M.C.... Nusbaum C. (Nature 2006)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

TryGeneCards Plus

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

TryGeneCards Plus

Entrez Gene: 162494	HGNC: 16502	AceView: RHBDL4	Ensembl:ENSG00000141314	euGenes: HUgn162494
ECgene: RHBDL3	H-InvDB: RHBDL3

(According to HUGE)
About This Section

TryGeneCards Plus

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
About This Section

TryGeneCards Plus

Name	Description
PharmGKB entry for RHBDL3	Pharmacogenomics, SNPs, Pathways

Intellectual Property for RHBDL3 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

TryGeneCards Plus

Patent Information for RHBDL3 gene:
Search GeneIP for patents involving RHBDL3

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
About This Section

TryGeneCards Plus


	EMD Millipore genomic analysis products

	Browse Antibodies		Browse Cell Culture Products
	Browse ELISAs		Browse Flow Cytometry Kits
	Browse Primer Pairs		Browse Enzyme Activity Assays/Reagents
	Browse ELISpot/FluoroSpot Kits/Development Modules		Browse TFB/Immunoprecipitation Assays
	Browse Apoptosis Detection Kits/Reagents		Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents
	Browse DNA Damage/Repair Kits/Reagents		Browse Luminex Assays
	Browse Cell Selection/Detection Kits/Reagents		Browse Secondary Antibodies/Controls/Staining Reagents
	Browse Recombinant/Natural Proteins		Browse Stem Cell Products
	Browse cDNA Clones		Browse Proteome Profiler Antibody Arrays

	Browse OriGene Antibodies		OriGene RNAi products in human, mouse, rat for RHBDL3
	Browse OriGene qPCR primer pairs and template standards		OriGene Protein Over-expression Lysate for RHBDL3
	OriGene Custom Mass Spec		OriGene clones in human, mouse for RHBDL3
	OriGene qSTAR qPCR primer pairs in human, mouse for RHBDL3		Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
	OriGene ORF clones in mouse, rat for RHBDL3		OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
	OriGene Custom Antibody Services for RHBDL3		OriGene Custom Protein Services for RHBDL3

	Block miRNA regulation of human, mouse, rat RHBDL3 using miScript Target Protectors		SeqTarget long-range PCR primers for resequencing RHBDL3
	DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RHBDL3		Predesigned siRNA for gene silencing in human, mouse, rat RHBDL3
	QuantiFast Probe-based Assays in human, mouse, rat RHBDL3		QuantiTect SYBR Green Assays in human, mouse, rat RHBDL3
	Custom PCR Arrays for RHBDL3		Search Chromatin IP Primers for RHBDL3
	Pre-validated RT² qPCR Primer Assay in human, mouse, rat RHBDL3		Search GeneGlobe Interaction Network for RHBDL3
	Regulatory tfbs in RHBDL3 promoter

	GenScript Custom Purified and Recombinant Proteins Services for RHBDL3		GenScript cDNA clones with any tag delivered in your preferred vector for RHBDL3
	GenScript Custom Assay Services for RHBDL3		GenScript Custom overexpressing Cell Line Services for RHBDL3
	CloneReady with Over 120,000 Genes		Gene Synthesis: Any Gene in Any Vector
	Vector-based siRNA and miRNA, Ready for Transfection		Gene Mutant Library, Variants up to 10^11
	Plasmid Preparation		Custom Peptide Services

Search for Antibodies & Assays

Search Tocris compounds for RHBDL3 (RHBL3)

	Browse Sino Biological Proteins
	Browse Sino Biological Cell Lysates
	Browse Sino Biological cDNA Clones
	4000+ Proteins
	Search Sino Biological for antibodies, proteins & pathways
	Protein Production Services
	Transfection Reagents
	Protein A/G/L resins
	Isotyping reagents

Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

	Novus Tissue Slides
	RHBDL3 antibodies
	RHBDL3 proteins
	RHBDL3 lysates

	Search for Antibodies for RHBDL3 at Abcam
	See all of Abcam's Antibodies, Kits and Proteins for RHBDL3
	Custom Antibody / Protein Production Service
	Bulk Purchasing
	Advantages of Rabbit Monoclonal antibodies
	Abcam protocols and scientific support

Browse ProSpec Recombinant Proteins

	Proteins for RHBDL3
	Antibodies for RHBDL3
	ELISAs for RHBDL3
	CLIAs for RHBDL3

Browse ESI BIO Cell Lines and PureStem Progenitors for RHBDL3

	Gene Synthesis
	Protein Engineering
	Variant Library Synthesis
	Codon Optimization
	Protein Production and Purification

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RHBDL3

	SwitchGear 3'UTR luciferase reporter plasmids for RHBDL3
	SwitchGear Promoter luciferase reporter plasmids for RHBDL3

Search ThermoFisher Antibodies for RHBDL3

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RHBDL3

Browse compounds at ApexBio

Search Addgene for plasmids for RHBDL3

	Search eBioscience for proteins for RHBDL3
	Search eBioscience for elisas for RHBDL3
	eBioscience FlowRNA Probe Sets

genOway: Develop your customized and physiologically relevant rodent model for RHBDL3

	Search antibodies-online for antibodies for RHBDL3
	antibodies-online kits for RHBDL3 (4 products)
	Search antibodies-online for peptides for RHBDL3
	antibodies-online proteins for RHBDL3 (2 products)

GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 2 Nov 2014 , 8 Jan 2015

View Random Gene

Category			(GIFtS: )
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes RHBDL3 gene at Home site.

Version: 3.12.300 21 Jan 2015
hostname: 356977-web1.xennexinc.com index build: 128 solr: 1.4

GeneCards Plus

Advanced Search

Export list of displayed genes

RHBDL3 Gene

Rhomboid, Veinlet-Like 3 (Drosophila)

Aliases
for RHBDL3 gene

Summaries
for RHBDL3 gene

Genomic Views
for RHBDL3 gene

Proteins
for RHBDL3 gene

RHBDL3 Human Recombinant Protein Products:

RHBDL3 Antibody Products:

RHBDL3 Assay Products:

Domains /
Families
for RHBDL3 gene

Function
for RHBDL3 gene

Localization
for RHBDL3 gene

Pathways & Interactions
for RHBDL3 gene

Drugs & Compounds
for RHBDL3 gene

Transcripts
for RHBDL3 gene

Expression
for RHBDL3 gene

Orthologs
for RHBDL3 gene

Paralogs
for RHBDL3 gene

Genomic Variants
for RHBDL3 gene

Disorders / Diseases
for RHBDL3 gene

Publications
for RHBDL3 gene

External Searches for RHBDL3 gene

Genome Databases showing RHBDL3 gene

Other Databases showing RHBDL3 gene

Specialized Databases showing RHBDL3 gene

Intellectual Property
for RHBDL3 gene

Products
for RHBDL3 gene

View Random Gene

GeneCards Plus

Advanced Search

Export list of displayed genes

RHBDL3 Gene

Rhomboid, Veinlet-Like 3 (Drosophila)

Aliasesfor RHBDL3 gene

Summariesfor RHBDL3 gene

Genomic Viewsfor RHBDL3 gene

Proteinsfor RHBDL3 gene

RHBDL3 Human Recombinant Protein Products:

RHBDL3 Antibody Products:

RHBDL3 Assay Products:

Domains /Familiesfor RHBDL3 gene

Functionfor RHBDL3 gene

Localizationfor RHBDL3 gene

Pathways & Interactionsfor RHBDL3 gene

Drugs & Compoundsfor RHBDL3 gene

Transcriptsfor RHBDL3 gene

Expression for RHBDL3 gene

Orthologsfor RHBDL3 gene

Paralogsfor RHBDL3 gene

Genomic Variantsfor RHBDL3 gene

Disorders / Diseasesfor RHBDL3 gene

Publicationsfor RHBDL3 gene

External Searches for RHBDL3 gene

Genome Databases showing RHBDL3 gene

Other Databases showing RHBDL3 gene

Specialized Databases showing RHBDL3 gene

Intellectual Propertyfor RHBDL3 gene

Productsfor RHBDL3 gene

View Random Gene

Aliases
for RHBDL3 gene

Summaries
for RHBDL3 gene

Genomic Views
for RHBDL3 gene

Proteins
for RHBDL3 gene

Domains /
Families
for RHBDL3 gene

Function
for RHBDL3 gene

Localization
for RHBDL3 gene

Pathways & Interactions
for RHBDL3 gene

Drugs & Compounds
for RHBDL3 gene

Transcripts
for RHBDL3 gene

Expression
for RHBDL3 gene

Orthologs
for RHBDL3 gene

Paralogs
for RHBDL3 gene

Genomic Variants
for RHBDL3 gene

Disorders / Diseases
for RHBDL3 gene

Publications
for RHBDL3 gene

Intellectual Property
for RHBDL3 gene

Products
for RHBDL3 gene