Erc2 MGI Mouse Gene Detail - MGI:1098749 - ELKS/RAB6-interacting/CAST family member 2

Symbol

Erc2
Name

ELKS/RAB6-interacting/CAST family member 2
Synonyms

CAST, D14Ertd171e, ELKS2alpha

Feature Type

protein coding gene
IDs

MGI:1098749
NCBI Gene: 238988
Alliance

gene page
Transcription Start Sites

16 TSS

Sequence Map

Chr14:27344385-28200494 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 14, 16.51 cM
Mapping Data

2 experiments

SNPs within 2kb

22063 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1098749	protein coding gene	Chr14:27344232-28200494 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0021094	protein coding gene	Chr14:20632647-21516139 (+)
A/J	MGP_AJ_G0021042	protein coding gene	Chr14:19836024-20687629 (+)
AKR/J	MGP_AKRJ_G0021019	protein coding gene	Chr14:20888407-21755862 (+)
BALB/cJ	MGP_BALBcJ_G0021046	protein coding gene	Chr14:19945399-20793787 (+)
C3H/HeJ	MGP_C3HHeJ_G0020829	protein coding gene	Chr14:20754321-21626343 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0021478	protein coding gene	Chr14:21495091-22394852 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0019041	protein coding gene	Chr14:19957204-20803933 (+)
CAST/EiJ	MGP_CASTEiJ_G0020354	protein coding gene	Chr14:20399766-21307285 (+)
CBA/J	MGP_CBAJ_G0020796	protein coding gene	Chr14:22357809-23279387 (+)
DBA/2J	MGP_DBA2J_G0020918	protein coding gene	Chr14:19910664-20764234 (+)
FVB/NJ	MGP_FVBNJ_G0020902	protein coding gene	Chr14:19873386-20715815 (+)
LP/J	MGP_LPJ_G0020987	protein coding gene	Chr14:20958471-21827016 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0020928	protein coding gene	Chr14:21714957-22610767 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0021511	protein coding gene	Chr14:20666083-21533364 (+)
PWK/PhJ	MGP_PWKPhJ_G0020102	protein coding gene	Chr14:19324486-20181476 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0019926	protein coding gene	Chr14:20165601-21067619 (+)
WSB/EiJ	MGP_WSBEiJ_G0020409	protein coding gene	Chr14:20706782-21584985 (+)

Human Ortholog

ERC2, ELKS/RAB6-interacting/CAST family member 2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ERC2, ELKS/RAB6-interacting/CAST family member 2
Synonyms

CAST, CAST1, ELKSL, SPBC110, Spc110
Links

HGNC:31922

NCBI Gene ID: 26059

neXtProt AC: NX_O15083

UniProt: O15083
Chr Location

3p14.3; chr3:55508311-56469095 (-) GRCh38

MGI Vertebrate Homology

Erc2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: ERC2
Gene Tree

Erc2

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Phenotype Summary

16 phenotypes from 3 alleles in 4 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

21
Endonuclease-mediated

2
Gene trapped

13
Targeted

6
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

112 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for targeted disruptions of this gene are viable and fertile. However, homozygotes for one allele display abnormal CNS synaptic transmission. Homozygotes for a second allele display retinal abnormalities and impaired vision.

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All GO Annotations

35
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	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

988
Tissues

65
cDNA Data

15
Literature Summary

13

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA ERC2

Xenbase erc2

ZFIN erc2

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All Sequences

154
RefSeq

81
UniProt

11
CCDS

CCDS26887.1, CCDS84102.1

Ensembl

ENSMUSG00000040640 (Evidence)
NCBI Gene

238988

			Length	Strain/Species	Flank
genomic	ENSMUSG00000040640	Ensembl Gene Model \| MGI Sequence Detail	856110	C57BL/6J	± kb
transcript	ENSMUST00000090302	Ensembl \| MGI Sequence Detail	6083	Not Applicable
polypeptide	ENSMUSP00000087773	Ensembl \| MGI Sequence Detail	1002	Not Applicable

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UniProt

11 Sequences
Protein Ontology

PR:000007162 ERC protein 2

(term hierarchy)
InterPro Domains

IPR019323 Active zone protein ELKS
GlyGen

Q6PH08 2 sites, 1 O-linked glycan (2 sites)

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All nucleic 18

cDNA 15

Primer pair 3

Microarray probesets 3

Summaries

All 67

Developmental Gene Expression 13

Gene Ontology 11

Phenotypes 29
Earliest

J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
Latest

J:334426 Tan C, et al., Munc13 supports fusogenicity of non-docked vesicles at synapses with disrupted active zones. Elife. 2022 Nov 18;11

TSS for Erc2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr124758	Chr14:27344283-27344325 (+)	-81 bp
Tssr124759	Chr14:27344343-27344369 (+)	-29 bp
Tssr124760	Chr14:27344390-27344500 (+)	60 bp
Tssr124761	Chr14:27345597-27345655 (+)	1,241 bp
Tssr4356	Chr14:27467605-27467607 (+)	123,221 bp
Tssr124762	Chr14:27490518-27490520 (+)	146,134 bp
Tssr124768	Chr14:27730196-27730199 (+)	385,813 bp
Tssr124769	Chr14:27751275-27751279 (+)	406,892 bp
Tssr124770	Chr14:27752342-27752350 (+)	407,961 bp
Tssr124771	Chr14:27753432-27753436 (+)	409,049 bp
Tssr124772	Chr14:27779347-27779350 (+)	434,964 bp
Tssr124773	Chr14:27874293-27874295 (+)	529,909 bp
Tssr124774	Chr14:28006524-28006527 (+)	662,141 bp
Tssr124775	Chr14:28102022-28102026 (+)	757,639 bp
Tssr124776	Chr14:28109771-28109784 (+)	765,393 bp
Tssr124777	Chr14:28165349-28165359 (+)	820,969 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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