Rbm20 MGI Mouse Gene Detail - MGI:1920963 - RNA binding motif protein 20

Symbol

Rbm20
Name

RNA binding motif protein 20
Synonyms

1110018J23Rik, 2010003H22Rik

Feature Type

protein coding gene
IDs

MGI:1920963
NCBI Gene: 73713
Alliance

gene page
Transcription Start Sites

26 TSS

Sequence Map

Chr19:53665737-53855511 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 19, 48.28 cM
Mapping Data

2 experiments

SNPs within 2kb

6058 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1920963	protein coding gene	Chr19:53649422-53855514 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0025249	protein coding gene	Chr19:53839119-54045397 (+)
A/J	MGP_AJ_G0025225	protein coding gene	Chr19:51187105-51382673 (+)
AKR/J	MGP_AKRJ_G0025194	protein coding gene	Chr19:52799909-53006696 (+)
BALB/cJ	MGP_BALBcJ_G0025220	protein coding gene	Chr19:51270198-51469156 (+)
C3H/HeJ	MGP_C3HHeJ_G0024980	protein coding gene	Chr19:53014007-53223985 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0025663	protein coding gene	Chr19:55140903-55347587 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0023075	protein coding gene	Chr19:50178045-50372112 (+)
CAST/EiJ	MGP_CASTEiJ_G0024445	protein coding gene	Chr19:52986124-53191248 (+)
CBA/J	MGP_CBAJ_G0024960	protein coding gene	Chr19:57869771-58103490 (+)
DBA/2J	MGP_DBA2J_G0025092	protein coding gene	Chr19:50995807-51193786 (+)
FVB/NJ	MGP_FVBNJ_G0025053	protein coding gene	Chr19:50708092-50909445 (+)
LP/J	MGP_LPJ_G0025178	protein coding gene	Chr19:53721983-53933975 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0025086	protein coding gene	Chr19:57319950-57532414 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0025721	protein coding gene	Chr19:52996410-53200590 (+)
PWK/PhJ	MGP_PWKPhJ_G0024193	protein coding gene	Chr19:50898650-51103799 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0023996	protein coding gene	Chr19:51660335-51864847 (+)
WSB/EiJ	MGP_WSBEiJ_G0024515	protein coding gene	Chr19:53125509-53328746 (+)

Human Ortholog

RBM20, RNA binding motif protein 20

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

RBM20, RNA binding motif protein 20
Links

HGNC:27424

NCBI Gene ID: 282996

neXtProt AC: NX_Q5T481

UniProt: Q5T481
Chr Location

10q25.2; chr10:110643245-110839468 (+) GRCh38

MGI Vertebrate Homology

Rbm20 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: RBM20
Gene Tree

Rbm20

Diseases

2 with Rbm20 mouse models; 2 with human RBM20 associations

Human Disease

Mouse Models

dilated cardiomyopathy 1DD

IDs

View 3 models

atrial fibrillation

IDs

View 1 model

dilated cardiomyopathy

IDs

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

2 with disease annotations

References

2 with disease annotations

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Phenotype Summary

44 phenotypes from 7 alleles in 6 genetic backgrounds
29 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

18
Endonuclease-mediated

13
Gene trapped

2
Targeted

3
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

54 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for an allele lacking the RNA recognition motif exhibit increased titin compliance, and attenuated Frank-Starling mechanism.

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All GO Annotations

30
GO References

16

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

817
Tissues

15
cDNA Data

22
Literature Summary

4

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA RBM20

Xenbase rbm20

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All Sequences

48
RefSeq

13
UniProt

3
CCDS

CCDS50468.1

Ensembl

ENSMUSG00000043639 (Evidence)
NCBI Gene

73713

			Length	Strain/Species	Flank
genomic	ENSMUSG00000043639	Ensembl Gene Model \| MGI Sequence Detail	189775	C57BL/6J	± kb
transcript	ENSMUST00000164202	Ensembl \| MGI Sequence Detail	4892	Not Applicable
polypeptide	ENSMUSP00000129447	Ensembl \| MGI Sequence Detail	1199	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000031033 RNA-binding protein 20

(term hierarchy)
PDB

6SO9, 6SOE
InterPro Domains

IPR000690 Matrin/U1-C, C2H2-type zinc finger

IPR003604 Matrin/U1-C-like, C2H2-type zinc finger

IPR012677 Nucleotide-binding alpha-beta plait domain superfamily

IPR034790 RBM20, RNA recognition motif

IPR035979 RNA-binding domain superfamily

IPR000504 RNA recognition motif domain

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All nucleic 25

cDNA 23

Primer pair 2

Microarray probesets 3

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MGI:1917122, MGI:2147587

Summaries

All 66

Developmental Gene Expression 4

Diseases 2

Gene Ontology 16

Phenotypes 29
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

J:350467 Li Y, et al., Frameshift variants in C10orf71 cause dilated cardiomyopathy in human, mouse, and organoid models. J Clin Invest. 2024 Jun 17;134(12)

TSS for Rbm20:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr157011	Chr19:53664804-53664847 (+)	-911 bp
Tssr157012	Chr19:53665717-53665722 (+)	-17 bp
Tssr157013	Chr19:53665758-53665771 (+)	28 bp
Tssr157014	Chr19:53665794-53665810 (+)	65 bp
Tssr157015	Chr19:53665826-53665856 (+)	104 bp
Tssr157016	Chr19:53689072-53689084 (+)	23,341 bp
Tssr157017	Chr19:53689174-53689181 (+)	23,441 bp
Tssr157018	Chr19:53689296-53689318 (+)	23,570 bp
Tssr157019	Chr19:53706276-53706288 (+)	40,545 bp
Tssr157020	Chr19:53706322-53706335 (+)	40,592 bp
Tssr157021	Chr19:53706350-53706368 (+)	40,622 bp
Tssr157022	Chr19:53706399-53706413 (+)	40,669 bp
Tssr157023	Chr19:53706455-53706472 (+)	40,727 bp
Tssr157024	Chr19:53727670-53727675 (+)	61,936 bp
Tssr157025	Chr19:53737456-53737459 (+)	71,721 bp
Tssr157026	Chr19:53760259-53760269 (+)	94,527 bp
Tssr157027	Chr19:53781697-53781706 (+)	115,965 bp
Tssr157028	Chr19:53781722-53781772 (+)	116,010 bp
Tssr157029	Chr19:53781778-53781823 (+)	116,064 bp
Tssr157030	Chr19:53781828-53781842 (+)	116,098 bp
Tssr157031	Chr19:53789283-53789294 (+)	123,552 bp
Tssr157032	Chr19:53795965-53795974 (+)	130,233 bp
Tssr157033	Chr19:53810105-53810140 (+)	144,386 bp
Tssr157034	Chr19:53821066-53821085 (+)	155,339 bp
Tssr157035	Chr19:53841345-53841354 (+)	175,613 bp
Tssr157036	Chr19:53852047-53852057 (+)	186,315 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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