Casc3 MGI Mouse Gene Detail - MGI:2179723 - exon junction complex subunit

Symbol

Casc3
Name

exon junction complex subunit
Synonyms

Btz, Mln51

Feature Type

protein coding gene
IDs

MGI:2179723
NCBI Gene: 192160
Alliance

gene page
Transcription Start Sites

3 TSS

Sequence Map

Chr11:98700634-98724633 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 62.68 cM
Mapping Data

1 experiment

SNPs within 2kb

79 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2179723	protein coding gene	Chr11:98695731-98724640 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0019074	protein coding gene	Chr11:101419174-101443740 (+)
A/J	MGP_AJ_G0019042	protein coding gene	Chr11:97161938-97190816 (+)
AKR/J	MGP_AKRJ_G0019012	protein coding gene	Chr11:100175931-100201185 (+)
BALB/cJ	MGP_BALBcJ_G0019016	protein coding gene	Chr11:97663003-97687472 (+)
C3H/HeJ	MGP_C3HHeJ_G0018829	protein coding gene	Chr11:100323659-100348129 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0019467	protein coding gene	Chr11:104516008-104546440 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0017099	protein coding gene	Chr11:94725599-94749347 (+)
CAST/EiJ	MGP_CASTEiJ_G0018383	protein coding gene	Chr11:101303432-101333606 (+)
CBA/J	MGP_CBAJ_G0018800	protein coding gene	Chr11:108870423-108900326 (+)
DBA/2J	MGP_DBA2J_G0018908	protein coding gene	Chr11:96720193-96751640 (+)
FVB/NJ	MGP_FVBNJ_G0018897	protein coding gene	Chr11:96235319-96264371 (+)
LP/J	MGP_LPJ_G0018978	protein coding gene	Chr11:101876325-101899849 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0018924	protein coding gene	Chr11:108575381-108603932 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0019507	protein coding gene	Chr11:100528274-100553637 (+)
PWK/PhJ	MGP_PWKPhJ_G0018154	protein coding gene	Chr11:97762332-97791478 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0017943	protein coding gene	Chr11:100264820-100297007 (+)
WSB/EiJ	MGP_WSBEiJ_G0018432	protein coding gene	Chr11:100477417-100510576 (+)

Human Ortholog

CASC3, CASC3 exon junction complex subunit

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CASC3, CASC3 exon junction complex subunit
Synonyms

BTZ, MLN51
Links

HGNC:17040

NCBI Gene ID: 22794

neXtProt AC: NX_O15234

UniProt: O15234
Chr Location

17q21.1; chr17:40140318-40172171 (+) GRCh38

MGI Vertebrate Homology

Casc3 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: CASC3
Gene Tree

Casc3

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Phenotype Summary

19 phenotypes from 3 alleles in 5 genetic backgrounds
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

10
Endonuclease-mediated

2
Gene trapped

5
Targeted

3
Genomic Mutations

1 involving Casc3
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

41 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygosity for a null or hypomorphic allele causes embryonic and postnatal lethality, respectively. Compound heterozygous embryos are smaller and exhibit proportionately reduced brain size with fewer neurons and progenitors, but no apoptosis, largely due to developmental delay.

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All GO Annotations

31
GO References

11

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	non-membrane-bounded 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

918
Tissues

74
cDNA Data

118
Literature Summary

4

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase casc3

ZFIN casc3

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All Sequences

43
RefSeq

2
UniProt

1
CCDS

CCDS36302.1

Ensembl

ENSMUSG00000078676 (Evidence)
NCBI Gene

192160

			Length	Strain/Species	Flank
genomic	192160	NCBI Gene Model \| MGI Sequence Detail	24000	C57BL/6J	± kb
transcript	NM_138660	RefSeq \| MGI Sequence Detail	3764	C57BL/6
polypeptide	Q8K3W3	UniProt \| EBI \| MGI Sequence Detail	698	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000005048 protein CASC3

(term hierarchy)
InterPro Domains

IPR018545 Btz domain

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All nucleic 121

cDNA 119

Primer pair 2

Microarray probesets 3

Summaries

All 46

Developmental Gene Expression 4

Gene Ontology 11

Phenotypes 15
Earliest

J:56548 Zheng B, et al., Engineering a mouse balancer chromosome. Nat Genet. 1999 Aug;22(4):375-8
Latest

J:281208 Rehfeld F, et al., The RNA-binding protein ARPP21 controls dendritic branching by functionally opposing the miRNA it hosts. Nat Commun. 2018 Mar 26;9(1):1235

TSS for Casc3:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr104799	Chr11:98700613-98700636 (+)	-9 bp
Tssr104800	Chr11:98700637-98700690 (+)	30 bp
Tssr104801	Chr11:98723360-98723377 (+)	22,735 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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