ENSMUSG00000019978


Mus musculus

Features
Gene ID: ENSMUSG00000019978
  
Biological name :Epb41l2
  
Synonyms : Epb41l2 / Mus musculus erythrocyte membrane protein band 4.1 like 2 (Epb41l2), transcript variant 3, mRNA. / O70318
  
Possible biological names infered from orthology : erythrocyte membrane protein band 4.1 like 2 / O43491
  
Species: Mus musculus
  
Chr. number: 10
Strand: 1
Band: A4
Gene start: 25359798
Gene end: 25523519
  
Corresponding Affymetrix probe sets: 10362245 (MoGene1.0st)   1433490_s_at (Mouse Genome 430 2.0 Array)   1433491_at (Mouse Genome 430 2.0 Array)   1433492_at (Mouse Genome 430 2.0 Array)   1452541_at (Mouse Genome 430 2.0 Array)   1459619_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000151632
Ensembl peptide - ENSMUSP00000151332
Ensembl peptide - ENSMUSP00000151685
Ensembl peptide - ENSMUSP00000152003
Ensembl peptide - ENSMUSP00000151926
Ensembl peptide - ENSMUSP00000151875
Ensembl peptide - ENSMUSP00000151707
Ensembl peptide - ENSMUSP00000151702
Ensembl peptide - ENSMUSP00000055122
Ensembl peptide - ENSMUSP00000090314
Ensembl peptide - ENSMUSP00000151233
Ensembl peptide - ENSMUSP00000151258
NCBI entrez gene - 13822     See in Manteia.
MGI - MGI:103009
RefSeq - XM_017313795
RefSeq - XM_006512506
RefSeq - XM_006512507
RefSeq - XM_006512508
RefSeq - XM_006512509
RefSeq - XM_006512510
RefSeq - XM_006512511
RefSeq - XM_006512512
RefSeq - XM_006512513
RefSeq - XM_006512514
RefSeq - XM_006512515
RefSeq - XM_006512516
RefSeq - XM_006512517
RefSeq - XM_006512519
RefSeq - XM_006512520
RefSeq - NM_001199265
RefSeq - NM_001358751
RefSeq - NM_001358754
RefSeq - NM_013511
RefSeq Peptide - NP_001186194
RefSeq Peptide - NP_001345680
RefSeq Peptide - NP_001345683
RefSeq Peptide - NP_038539
swissprot - A0A1W2P7H7
swissprot - A0A1W2P6I5
swissprot - O70318
swissprot - A0A1W2P8C0
swissprot - Q80UE5
swissprot - A0A1W2P6H2
swissprot - Q80UE4
swissprot - A0A1W2P896
swissprot - A0A1W2P7I4
swissprot - A0A1W2P7I2
Ensembl - ENSMUSG00000019978
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 EPB41L2ENSDARG00000093374Danio rerio
 EPB41L2ENSGALG00000035769Gallus gallus
 O43491ENSG00000079819Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Epb41 / P48193 / erythrocyte membrane protein band 4.1 / P11171*ENSMUSG0000002890645
Q9WV92 / Epb41l3 / Band 4.1-like protein 3 Band 4.1-like protein 3, N-terminally processed / Q9Y2J2* / erythrocyte membrane protein band 4.1 like 3*ENSMUSG0000002404445
Epb41l1 / band 4.1-like protein 1 isoform d / Q9H4G0* / erythrocyte membrane protein band 4.1 like 1*ENSMUSG0000002762440
Ptpn4 / Q9WU22 / Tyrosine-protein phosphatase non-receptor type 4 / P29074* / protein tyrosine phosphatase, non-receptor type 4*ENSMUSG0000002638421
Q8BGS1 / Epb41l5 / Band 4.1-like protein 5 / Q9HCM4* / erythrocyte membrane protein band 4.1 like 5*ENSMUSG0000002638320
P52963 / Epb41l4a / Band 4.1-like protein 4A / Q9HCS5* / erythrocyte membrane protein band 4.1 like 4A*ENSMUSG0000002437618
Frmd3 / Q8BHD4 / FERM domain-containing protein 3 / A2A2Y4* / FERM domain containing 3*ENSMUSG0000004912217
Ptpn3 / A2ALK8 / protein tyrosine phosphatase, non-receptor type 3 / P26045*ENSMUSG0000003876417
Q9JMC8 / Epb41l4b / Band 4.1-like protein 4B / Q9H329* / erythrocyte membrane protein band 4.1 like 4B*ENSMUSG0000002843416
Frmd5 / Q6P5H6 / FERM domain-containing protein 5 / Q7Z6J6* / FERM domain containing 5*ENSMUSG0000002723815


Protein motifs (from Interpro)
Interpro ID Name
 IPR000299  FERM domain
 IPR000798  Ezrin/radixin/moesin-like
 IPR007477  SAB domain
 IPR008379  Band 4.1, C-terminal
 IPR011993  PH-like domain superfamily
 IPR014352  FERM/acyl-CoA-binding protein superfamily
 IPR014847  FERM adjacent (FA)
 IPR018979  FERM, N-terminal
 IPR018980  FERM, C-terminal PH-like domain
 IPR019747  FERM conserved site
 IPR019748  FERM central domain
 IPR019749  Band 4.1 domain
 IPR029071  Ubiquitin-like domain superfamily
 IPR030546  Band 4.1-like protein 2
 IPR035963  FERM superfamily, second domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007049 cell cycle IEA
 biological_processGO:0008360 regulation of cell shape ISS
 biological_processGO:0030036 actin cytoskeleton organization ISS
 biological_processGO:0030866 cortical actin cytoskeleton organization IEA
 biological_processGO:0031032 actomyosin structure organization IBA
 biological_processGO:0051301 cell division IEA
 biological_processGO:1904778 positive regulation of protein localization to cell cortex ISO
 cellular_componentGO:0005634 nucleus ISO
 cellular_componentGO:0005654 nucleoplasm ISO
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005856 cytoskeleton IBA
 cellular_componentGO:0005886 plasma membrane IBA
 cellular_componentGO:0005938 cell cortex IEA
 cellular_componentGO:0008180 COP9 signalosome ISO
 cellular_componentGO:0015629 actin cytoskeleton ISS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0030054 cell junction ISO
 cellular_componentGO:0099738 cell cortex region ISO
 molecular_functionGO:0003779 actin binding ISS
 molecular_functionGO:0005198 structural molecule activity IEA
 molecular_functionGO:0005200 structural constituent of cytoskeleton IBA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008092 cytoskeletal protein binding IEA
 molecular_functionGO:0030507 spectrin binding ISS
 molecular_functionGO:0042731 PH domain binding IDA


Pathways (from Reactome)
Pathway description
Neurexins and neuroligins


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000774 reduced brain size "smaller appearance of the brain" [J:35802]
Show

Allelic Composition: Ptx3tm1Mant/Ptx3tm1Mant
Genetic Background: involves: 129 * C57BL/6J

 MP:0000852 small cerebellum "reduced size of cerebellum" [MGI:CLS, J:17203, J:67524]
Show

Allelic Composition: Ptx3tm1Mant/Ptx3tm1Mant
Genetic Background: involves: 129 * C57BL/6J

 MP:0001147 small testis "reduced size of the male reproductive glands" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:58959]
Show

Allelic Composition: Scribcrn2/Scrib+,Vangl2Lp/Vangl2+
Genetic Background: involves: A/J * FVB/N

 MP:0001156 abnormal spermatogenesis "incomplete maturation or aberrant formation of the male gametes" [J:58959]
Show

Allelic Composition: Scribcrn2/Scrib+,Vangl2Lp/Vangl2+
Genetic Background: involves: A/J * FVB/N

 MP:0001925 male infertility "inability of male to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409]
Show

Allelic Composition: Scribcrn2/Scrib+,Vangl2Lp/Vangl2+
Genetic Background: involves: A/J * FVB/N

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Ptx3tm1Mant/Ptx3tm1Mant
Genetic Background: involves: 129 * C57BL/6J

 MP:0002687 oligozoospermia "reduced concentration of spermatozoa " [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:57312]
Show

Allelic Composition: Scribcrn2/Scrib+,Vangl2Lp/Vangl2+
Genetic Background: involves: A/J * FVB/N

 MP:0004852 decreased testis weight "reduced average weight of the male reproductive glands" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Scribcrn2/Scrib+,Vangl2Lp/Vangl2+
Genetic Background: involves: A/J * FVB/N

 MP:0011750 abnormal seminiferous tubule epithelium morphology "any structural anomaly of the stratified epithelial lining of the seminiferous tubules, consisting of the developing spermatozoa and the supporting Sertoli cells, which are tall, columnar type cells that line the tubule" [MGI:csmith]
Show

Allelic Composition: Scribcrn2/Scrib+,Vangl2Lp/Vangl2+
Genetic Background: involves: A/J * FVB/N

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000031012 Cask / O70589 / Peripheral plasma membrane protein CASK / O14936* / calcium/calmodulin dependent serine protein kinase*  / complex / reaction
 ENSMUSG00000051790 Nlgn2 / Q69ZK9 / Neuroligin-2 / Q8NFZ4*  / complex / reaction
 ENSMUSG00000031302 Nlgn3 / Q8BYM5 / Neuroligin-3 / Q9NZ94*  / complex / reaction
 ENSMUSG00000063887 Nlgn1 / Q99K10 / Neuroligin-1 / Q8N2Q7*  / complex / reaction






 

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