Rhbdd3 MGI Mouse Gene Detail - MGI:2444684 - rhomboid domain containing 3

Symbol

Rhbdd3
Name

rhomboid domain containing 3
Synonyms

5730411O18Rik

Feature Type

protein coding gene
IDs

MGI:2444684
NCBI Gene: 279766
Alliance

gene page
Transcription Start Sites

7 TSS

Sequence Map

Chr11:5048926-5056093 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 3.26 cM
Mapping Data

1 experiment

SNPs within 2kb

198 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2444684	protein coding gene	Chr11:5048282-5056100 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0017997	protein coding gene	Chr11:2121924-2129042 (+)
A/J	MGP_AJ_G0017970	protein coding gene	Chr11:2058888-2066052 (+)
AKR/J	MGP_AKRJ_G0017934	protein coding gene	Chr11:2158322-2165486 (+)
BALB/cJ	MGP_BALBcJ_G0017938	protein coding gene	Chr11:2036887-2044045 (+)
C3H/HeJ	MGP_C3HHeJ_G0017751	protein coding gene	Chr11:2057140-2064304 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0018390	protein coding gene	Chr11:2192598-2199888 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0016048	protein coding gene	Chr11:1952505-1959609 (+)
CAST/EiJ	MGP_CASTEiJ_G0017313	protein coding gene	Chr11:2017690-2024863 (+)
CBA/J	MGP_CBAJ_G0017726	protein coding gene	Chr11:2495143-2502304 (+)
DBA/2J	MGP_DBA2J_G0017836	protein coding gene	Chr11:1957934-1965292 (+)
FVB/NJ	MGP_FVBNJ_G0017828	protein coding gene	Chr11:1998310-2005473 (+)
LP/J	MGP_LPJ_G0017907	protein coding gene	Chr11:2200708-2207913 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0017854	protein coding gene	Chr11:2118790-2125954 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0018430	protein coding gene	Chr11:2157981-2166229 (+)
PWK/PhJ	MGP_PWKPhJ_G0017093	protein coding gene	Chr11:1975925-1983318 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0016890	protein coding gene	Chr11:2145044-2154637 (+)
WSB/EiJ	MGP_WSBEiJ_G0017367	protein coding gene	Chr11:2026445-2033616 (+)

Human Ortholog

RHBDD3, rhomboid domain containing 3

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

RHBDD3, rhomboid domain containing 3
Synonyms

C22orf3, HS984G1A, PTAG
Links

HGNC:1308

NCBI Gene ID: 25807

neXtProt AC: NX_Q9Y3P4

UniProt: Q9Y3P4
Chr Location

22q12.2; chr22:29259852-29268209 (-) GRCh38

MGI Vertebrate Homology

Rhbdd3 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: RHBDD3
Gene Tree

Rhbdd3

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Phenotype Summary

13 phenotypes from 1 allele in 1 genetic background
8 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

38
Endonuclease-mediated

1
Gene trapped

34
Targeted

3
Incidental Mutations

CvDC
Find Mice (IMSR)

28 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit altered stimulated NK cell activation and acute inflammation.

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All GO Annotations

11
GO References

4

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

706
cDNA Data

53

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase rhbdd3

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All Sequences

84
RefSeq

23
UniProt

6
CCDS

CCDS24397.1, CCDS70133.1

Ensembl

ENSMUSG00000034175 (Evidence)
NCBI Gene

279766

			Length	Strain/Species	Flank
genomic	ENSMUSG00000034175	Ensembl Gene Model \| MGI Sequence Detail	7168	C57BL/6J	± kb
transcript	ENSMUST00000109878	Ensembl \| MGI Sequence Detail	1611	Not Applicable
polypeptide	ENSMUSP00000105504	Ensembl \| MGI Sequence Detail	385	Not Applicable

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UniProt

6 Sequences
Protein Ontology

PR:000030209 rhomboid domain-containing protein 3

(term hierarchy)
InterPro Domains

IPR022764 Peptidase S54, rhomboid domain

IPR035952 Rhomboid-like superfamily

IPR009060 UBA-like superfamily

IPR015940 Ubiquitin-associated domain

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All nucleic 53

cDNA 53

Microarray probesets 5

Summaries

All 28

Gene Ontology 4

Phenotypes 8
Earliest

J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
Latest

J:244780 Liu J, et al., Rhbdd3 controls autoimmunity by suppressing the production of IL-6 by dendritic cells via K27-linked ubiquitination of the regulator NEMO. Nat Immunol. 2014 Jul;15(7):612-22

TSS for Rhbdd3:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr100164	Chr11:5048915-5048926 (+)	-5 bp
Tssr100165	Chr11:5049266-5049279 (+)	347 bp
Tssr100166	Chr11:5049406-5049518 (+)	536 bp
Tssr100167	Chr11:5049626-5049646 (+)	710 bp
Tssr100168	Chr11:5049659-5049677 (+)	742 bp
Tssr100169	Chr11:5055177-5055187 (+)	6,256 bp
Tssr100170	Chr11:5055214-5055221 (+)	6,292 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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