Obscn MGI Mouse Gene Detail - MGI:2681862 - obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF

Symbol

Obscn
Name

obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
Synonyms

LOC380698, MGC:51514, OTTMUSG00000005786

Feature Type

protein coding gene
IDs

MGI:2681862
NCBI Gene: 380698
Alliance

gene page
Transcription Start Sites

11 TSS

Sequence Map

Chr11:58885082-59027201 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 36.40 cM
Mapping Data

2 experiments

SNPs within 2kb

4445 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2681862	protein coding gene	Chr11:58885082-59029996 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0018387	protein coding gene	Chr11:58775947-58939765 (-)
A/J	MGP_AJ_G0018356	protein coding gene	Chr11:56536906-56682700 (-)
AKR/J	MGP_AKRJ_G0018326	protein coding gene	Chr11:58436105-58592424 (-)
BALB/cJ	MGP_BALBcJ_G0018327	protein coding gene	Chr11:56904704-57051482 (-)
C3H/HeJ	MGP_C3HHeJ_G0018140	protein coding gene	Chr11:58331354-58478885 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0018779	protein coding gene	Chr11:60651870-60821016 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0016424	protein coding gene	Chr11:53809105-53953056 (-)
CAST/EiJ	MGP_CASTEiJ_G0017698	protein coding gene	Chr11:58440867-58596866 (-)
CBA/J	MGP_CBAJ_G0018114	protein coding gene	Chr11:63296974-63465013 (-)
DBA/2J	MGP_DBA2J_G0018223	protein coding gene	Chr11:56213829-56369859 (-)
FVB/NJ	MGP_FVBNJ_G0018214	protein coding gene	Chr11:55861437-56011210 (-)
LP/J	MGP_LPJ_G0018296	protein coding gene	Chr11:59391639-59545775 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0018238	protein coding gene	Chr11:64453496-64621303 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0018820	protein coding gene	Chr11:58442608-58611184 (-)
PWK/PhJ	MGP_PWKPhJ_G0017468	protein coding gene	Chr11:56799199-56948913 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0017261	protein coding gene	Chr11:58248827-58410551 (-)
WSB/EiJ	MGP_WSBEiJ_G0017748	protein coding gene	Chr11:58127048-58300529 (-)

Human Ortholog

OBSCN, obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

OBSCN, obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
Synonyms

ARHGEF30, RHABDO1, UNC89
Links

HGNC:15719

NCBI Gene ID: 84033

neXtProt AC: NX_Q5VST9

UniProt: Q5VST9
Chr Location

1q42.13; chr1:228208044-228378876 (+) GRCh38

MGI Vertebrate Homology

Obscn stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: OBSCN
Gene Tree

Obscn

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Phenotype Summary

14 phenotypes from 2 alleles in 3 genetic backgrounds
11 phenotypes from multigenic genotypes
15 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

9
Chemically induced (ENU)

1
Chemically induced (other)

1
Endonuclease-mediated

2
Spontaneous

1
Targeted

4
Genomic Mutations

1 involving Obscn
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

420 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit centrally localized nuclei in muscle fibers and mild myopathy in aged mice.

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All GO Annotations

65
GO References

13

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

794
Tissues

9
cDNA Data

27
Literature Summary

5

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

ZFIN obscna

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All Sequences

62
RefSeq

6
UniProt

10
CCDS

CCDS24757.1, CCDS56774.1, CCDS56775.1

Ensembl

ENSMUSG00000061462 (Evidence)
NCBI Gene

380698

			Length	Strain/Species	Flank
genomic	380698	NCBI Gene Model \| MGI Sequence Detail	142120	C57BL/6J	± kb
transcript	NM_001428368	RefSeq \| MGI Sequence Detail	26882	C57BL/6
polypeptide	A2AAJ9	UniProt \| EBI \| MGI Sequence Detail	8886	Not Applicable

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UniProt

10 Sequences
Protein Ontology

PR:000011587 obscurin

(term hierarchy)
EC

2.7.11.1
InterPro Domains

IPR000219 Dbl homology (DH) domain

IPR035899 Dbl homology (DH) domain superfamily

IPR003961 Fibronectin type III

IPR036116 Fibronectin type III superfamily

IPR013098 Immunoglobulin I-set

IPR007110 Immunoglobulin-like domain

IPR036179 Immunoglobulin-like domain superfamily

IPR013783 Immunoglobulin-like fold

IPR003599 Immunoglobulin subtype

IPR003598 Immunoglobulin subtype 2

IPR013106 Immunoglobulin V-set domain

IPR000048 IQ motif, EF-hand binding site

IPR052385 Obscurin and Obscurin-like Regulators

IPR035526 Obscurin, SH3 domain

IPR011993 PH-like domain superfamily

IPR001849 Pleckstrin homology domain

IPR017441 Protein kinase, ATP binding site

IPR000719 Protein kinase domain

IPR011009 Protein kinase-like domain superfamily

IPR008271 Serine/threonine-protein kinase, active site

IPR001452 SH3 domain

IPR036028 SH3-like domain superfamily

IPR008266 Tyrosine-protein kinase, active site
GlyGen

A2AAJ9 1 site, 1 O-linked glycan (1 site)

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All nucleic 28

cDNA 27

Other 1

Microarray probesets 5

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MGI:2664530, MGI:2685724, MGI:3702401

Summaries

All 53

Developmental Gene Expression 5

Gene Ontology 13

Phenotypes 15
Earliest

J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
Latest

J:349860 Hashimoto K, et al., Loss of connectin novex-3 leads to heart dysfunction associated with impaired cardiomyocyte proliferation and abnormal nuclear mechanics. Sci Rep. 2024 Jun 14;14(1):13727

TSS for Obscn:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr108196	Chr11:59011751-59011788 (-)	15,431 bp
Tssr108195	Chr11:58975073-58975076 (-)	52,126 bp
Tssr108194	Chr11:58893247-58893275 (-)	133,940 bp
Tssr108193	Chr11:58893217-58893227 (-)	133,979 bp
Tssr108192	Chr11:58893200-58893211 (-)	133,995 bp
Tssr108191	Chr11:58893181-58893192 (-)	134,014 bp
Tssr108190	Chr11:58893024-58893057 (-)	134,160 bp
Tssr108189	Chr11:58893008-58893019 (-)	134,187 bp
Tssr108188	Chr11:58890188-58890233 (-)	136,990 bp
Tssr108187	Chr11:58890064-58890107 (-)	137,115 bp
Tssr108186	Chr11:58890046-58890063 (-)	137,146 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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/17/2024 MGI 6.24