ENSMUSG00000040640


Mus musculus

Features
Gene ID: ENSMUSG00000040640
  
Biological name :Erc2
  
Synonyms : Erc2 / Mus musculus ELKS/RAB6-interacting/CAST family member 2 (Erc2), transcript variant 2, mRNA. / Q6PH08
  
Possible biological names infered from orthology : ELKS/RAB6-interacting/CAST family member 2 / O15083
  
Species: Mus musculus
  
Chr. number: 14
Strand: 1
Band: A3
Gene start: 27622428
Gene end: 28478537
  
Corresponding Affymetrix probe sets: 10413461 (MoGene1.0st)   1434582_at (Mouse Genome 430 2.0 Array)   1444681_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000147981
Ensembl peptide - ENSMUSP00000147886
Ensembl peptide - ENSMUSP00000148033
Ensembl peptide - ENSMUSP00000148076
Ensembl peptide - ENSMUSP00000087773
Ensembl peptide - ENSMUSP00000147744
Ensembl peptide - ENSMUSP00000147814
NCBI entrez gene - 238988     See in Manteia.
MGI - MGI:1098749
RefSeq - XM_017316003
RefSeq - XM_011245047
RefSeq - XM_017315995
RefSeq - XM_017315996
RefSeq - XM_017315997
RefSeq - XM_017315999
RefSeq - XM_017316000
RefSeq - XM_017316001
RefSeq - XM_017316002
RefSeq - NM_001347497
RefSeq - NM_177814
RefSeq - XM_006518930
RefSeq - XM_006518931
RefSeq - XM_006518932
RefSeq - XM_006518933
RefSeq - XM_006518934
RefSeq - XM_006518935
RefSeq - XM_006518936
RefSeq - XM_006518937
RefSeq - XM_006518938
RefSeq - XM_006518939
RefSeq - XM_006518940
RefSeq - XM_006518942
RefSeq - XM_006518943
RefSeq - XM_006518944
RefSeq - XM_006518945
RefSeq - XM_006518946
RefSeq - XM_006518948
RefSeq - XM_006518949
RefSeq - XM_006518950
RefSeq - XM_011245046
RefSeq Peptide - NP_001334426
RefSeq Peptide - NP_808482
swissprot - Q6PH08
swissprot - A0A1B0GS69
swissprot - Q3UHT7
swissprot - A0A1B0GSU7
swissprot - Q5J8K6
swissprot - A0A1B0GSQ8
Ensembl - ENSMUSG00000040640
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 erc2ENSDARG00000105178Danio rerio
 ERC2ENSGALG00000005419Gallus gallus
 ERC2ENSG00000187672Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Erc1 / Q99MI1 / ELKS/Rab6-interacting/CAST family member 1 / Q8IUD2*ENSMUSG0000003017269


Protein motifs (from Interpro)
Interpro ID Name
 IPR019323  Active zone protein ELKS
 IPR030625  ERC protein 2


Gene Ontology (GO)
TypeGO IDTermEv.Code
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030426 growth cone ISS
 cellular_componentGO:0042734 presynaptic membrane ISS
 cellular_componentGO:0043005 neuron projection IEA
 cellular_componentGO:0045202 synapse IDA
 cellular_componentGO:0048786 presynaptic active zone IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0001005 abnormal rod morphology "structural or developmental anomaly of the photoreceptors that contain rhodopsin" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: F2rtm1Ajc/F2rtm1Ajc,F2rl1tm1Cgh/F2rl1tm1Cgh
Genetic Background: involves: 129S4/SvJae

 MP:0001325 abnormal retina morphology "structural or developmental anomaly of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: F2rtm1Ajc/F2rtm1Ajc,F2rl1tm1Cgh/F2rl1tm1Cgh
Genetic Background: involves: 129S4/SvJae

 MP:0001415 increased exploration in new environment "greater amount of time spent investigating new location" [J:28825]
Show

Allelic Composition: Evx2/Hoxd13tm5(Hoxd11/lacZ)Ddu/Evx2/Hoxd13tm5(Hoxd11/lacZ)Ddu
Genetic Background: involves: 129S2/SvPas

 MP:0002090 abnormal vision "inability or decreased ability to see " [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: F2rtm1Ajc/F2rtm1Ajc,F2rl1tm1Cgh/F2rl1tm1Cgh
Genetic Background: involves: 129S4/SvJae

 MP:0002204 abnormal neurotransmitter physiology "aberrant function or production of endogenous signaling molecules secreted by neurons that alter the behavior of neurons or effector cells" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Pclotm3.1Sud/Pclotm3.1Sud
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Erc2tm1.1Sud/Erc2tm1.1Sud
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ

 MP:0002206 abnormal CNS synaptic transmission "defect in the communication from a neuron to a target across a synapse in the central nervous system" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Pclotm3.1Sud/Pclotm3.1Sud
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Erc2tm1.1Sud/Erc2tm1.1Sud
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ

 MP:0002945 abnormal inhibitory postsynaptic currents "defect in the size or duration of currents detected in postsynaptic cells when an inhibitory impulse arrives at the synapse causing hyperpolarization" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
Show

Allelic Composition: Pclotm3.1Sud/Pclotm3.1Sud
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Erc2tm1.1Sud/Erc2tm1.1Sud
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ

Allelic Composition: Erc2tm1.2Sud/Erc2tm1.2Sud
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 MP:0003731 abnormal outer nuclear layer morphology "malformation/anomalous structure of the retinal layer that contains the nuclei and cell bodies of rods and cones" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: F2rtm1Ajc/F2rtm1Ajc,F2rl1tm1Cgh/F2rl1tm1Cgh
Genetic Background: involves: 129S4/SvJae

 MP:0003732 abnormal outer plexiform layer morphology "malformation/anomalous structure of the retinal layer that is the site of synapses between the rods and cones (axons) and the horizontal and bipolar cells (dendrites)" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: F2rtm1Ajc/F2rtm1Ajc,F2rl1tm1Cgh/F2rl1tm1Cgh
Genetic Background: involves: 129S4/SvJae

 MP:0004021 abnormal rod electrophysiology "anomaly in the function of dark adapted vision mediated by the rods" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: F2rtm1Ajc/F2rtm1Ajc,F2rl1tm1Cgh/F2rl1tm1Cgh
Genetic Background: involves: 129S4/SvJae

 MP:0004792 abnormal synaptic vesicle number "anomaly in the number of the small, membrane bound sacs that contain various neurotransmitter molecules that are concentrated at pre-synaptic membranes and release the neurotransmitters by fusion of these vesicles with the presynaptic membrane, followed by exocytosis of their contents" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Erc2tm1.1Sud/Erc2tm1.1Sud
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ

 MP:0005551 abnormal eye electrophysiology "abnormal function of the eye as determined through electrophysiological recordings from single cells or summary recordings from multiple cells (e.g. electroretinogram)" [NMF:Stephanie Pretel, Neuroscience Mutagenesis Facility Curator]
Show

Allelic Composition: F2rtm1Ajc/F2rtm1Ajc,F2rl1tm1Cgh/F2rl1tm1Cgh
Genetic Background: involves: 129S4/SvJae

 MP:0006068 abnormal horizontal cell morphology "anomalous structure of the laterally interconnecting neurons in the outer plexiform layer" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: F2rtm1Ajc/F2rtm1Ajc,F2rl1tm1Cgh/F2rl1tm1Cgh
Genetic Background: involves: 129S4/SvJae

 MP:0006073 abnormal retinal bipolar cell morphology "anomalous structure of the cells that transmit signals from the photoreceptors to retinal amacrine and ganglion cells" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:92623:]
Show

Allelic Composition: F2rtm1Ajc/F2rtm1Ajc,F2rl1tm1Cgh/F2rl1tm1Cgh
Genetic Background: involves: 129S4/SvJae

 MP:0008519 thin retinal outer plexiform layer "reduced thickness of the retinal layer that is the site of synapses between the rods and cones (axons) and the horizontal and bipolar cells (dendrites)" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
Show

Allelic Composition: F2rtm1Ajc/F2rtm1Ajc,F2rl1tm1Cgh/F2rl1tm1Cgh
Genetic Background: involves: 129S4/SvJae

 MP:0009538 abnormal synapse morphology "any strucutral anomaly of the membrane junction site of a nerve cell to a target cell, such as another nerve cell, an effector cell, or a sensory receptor cell; transmission of nerve impulses may be mediated by chemical or by electrical means" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MESH:A08.850]
Show

Allelic Composition: Erc2tm1.1Sud/Erc2tm1.1Sud
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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