• Gene id: 2037

Gene Summary

• Gene Symbol: EPB41L2   Gene   UCSC   Ensembl
• Aliases: 4.1-G, 4.1G
• Gene name: erythrocyte membrane protein band 4.1 like 2
• Alternate names: band 4.1-like protein 2, erythrocyte membrane protein band 4.1 like-protein 2, generally expressed protein 4.1,
• Gene location: 6q23.1-q23.2 (131063321: 130827954)     Exons: 31     NC_000006.12
• OMIM: 603237

Protein Summary

• Protein general information: O43491  
  • Name: Band 4.1 like protein 2 (Generally expressed protein 4.1) (4.1G)
  • Length: 1005  
  • Mass: 112588
  • Tissue specificity: Widely expressed.
• Sequence:

  MTTEVGSVSEVKKDSSQLGTDATKEKPKEVAENQQNQSSDPEEEKGSQPPPAAESQSSLRRQKREKETSESRGIS
  RFIPPWLKKQKSYTLVVAKDGGDKKEPTQAVVEEQVLDKEEPLPEEQRQAKGDAEEMAQKKQEIKVEVKEEKPSV
  SKEEKPSVSKVEMQPTELVSKEREEKVKETQEDKLEGGAAKRETKEVQTNELKAEKASQKVTKKTKTVQCKVTLL
  DGTEYSCDLEKHAKGQVLFDKVCEHLNLLEKDYFGLLFQESPEQKNWLDPAKEIKRQLRNLPWLFTFNVKFYPPD
  PSQLTEDITRYFLCLQLRQDIASGRLPCSFVTHALLGSYTLQAELGDYDPEEHGSIDLSEFQFAPTQTKELEEKV
  AELHKTHRGLSPAQADSQFLENAKRLSMYGVDLHHAKDSEGVDIKLGVCANGLLIYKDRLRINRFAWPKILKISY
  KRSNFYIKVRPAELEQFESTIGFKLPNHRAAKRLWKVCVEHHTFYRLVSPEQPPKAKFLTLGSKFRYSGRTQAQT
  RQASTLIDRPAPHFERTSSKRVSRSLDGAPIGVMDQSLMKDFPGAAGEISAYGPGLVSIAVVQDGDGRREVRSPT
  KAPHLQLIEGKKNSLRVEGDNIYVRHSNLMLEELDKAQEDILKHQASISELKRNFMESTPEPRPNEWEKRRITPL
  SLQTQGSSHETLNIVEEKKRAEVGKDERVITEEMNGKEISPGSGPGEIRKVEPVTQKDSTSLSSESSSSSSESEE
  EDVGEYRPHHRVTEGTIREEQEYEEEVEEEPRPAAKVVEREEAVPEASPVTQAGASVITVETVIQENVGAQKIPG
  EKSVHEGALKQDMGEEAEEEPQKVNGEVSHVDIDVLPQIICCSEPPVVKTEMVTISDASQRTEISTKEVPIVQTE
  TKTITYESPQIDGGAGGDSGTLLTAQTITSESVSTTTTTHITKTVKGGISETRIEKRIVITGDGDIDHDQALAQA
  IREAREQHPDMSVTRVVVHKETELAEEGED

• Structural information:
  • Protein Domains: (218..49-)
    (/note="FERM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00084"-)
  • Interpro: IPR008379  IPR019749  IPR030546  IPR000798  IPR014847   IPR014352  IPR035963  IPR019748  IPR019747  IPR000299  IPR018979  IPR018980  IPR011993  IPR007477  IPR029071  
  • Prosite: PS00660 PS00661 PS50057
  • CDD: cd14473
  • DIP: 17034
  • STRING: ENSP00000338481
• Other Databases: GeneCards:  EPB41L2  Malacards:  EPB41L2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005856	cytoskeleton	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0031032	actomyosin structure organization	IBA	biological process
GO:0099738	cell cortex region	IDA	cellular component
GO:0008180	COP9 signalosome	IDA	colocalizes with
GO:1904778	positive regulation of protein localization to cell cortex	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003779	actin binding	IEA	molecular function
GO:0005198	structural molecule activity	IEA	molecular function
GO:0008092	cytoskeletal protein binding	IEA	molecular function
GO:0030866	cortical actin cytoskeleton organization	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0051301	cell division	IEA	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0008091	spectrin	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0030507	spectrin binding	IEA	molecular function
GO:0042731	PH domain binding	IEA	molecular function
GO:0005938	cell cortex	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:0005925	focal adhesion	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Male factor infertility	MIK: 21482674
Cryptorchidism	MIK: 28606200
Male infertility	MIK: 21482674
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21482674	Male infertility				Male infertility
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray