• Gene id: 54566

Gene Summary

• Gene Symbol: EPB41L4B   Gene   UCSC   Ensembl
• Aliases: CG1, EHM2, LULU2
• Gene name: erythrocyte membrane protein band 4.1 like 4B
• Alternate names: band 4.1-like protein 4B, FERM-containing protein CG1,
• Gene location: 9q31.3 (109320963: 109171973)     Exons: 28     NC_000009.12
• OMIM: 610340

Protein Summary

• Protein general information: Q9H329  
  • Name: Band 4.1 like protein 4B (FERM containing protein CG1) (Protein EHM2)
  • Length: 900  
  • Mass: 99712
  • Tissue specificity: Expressed at higher levels in acute wounds than chronic wounds with increased expression in healing wounds, especially at the leading wound edge (PubMed
• Sequence:

  MLRFLRRTFGRRSMQRYARGAAGRGAAGLGDERDGGPRGGPAAAASSSALPAAPGGSVFPAGGGPLLTGGAAVHI
  SAAGAAKATLYCRVFLLDGTEVSVDLPKHAKGQDLFDQIVYHLDLVETDYFGLQFLDSAQVAHWLDHAKPIKKQM
  KIGPAYALHFRVKYYSSEPNNLREEFTRYLFVLQLRHDILSGKLKCPYETAVELAALCLQAELGECELPEHTPEL
  VSEFRFIPNQTEAMEFDIFQRWKECRGKSPAQAELSYLNKAKWLEMYGVDMHVVRGRDGCEYSLGLTPTGILIFE
  GANKIGLFFWPKITKMDFKKSKLTLVVVEDDDQGREQEHTFVFRLDSARTCKHLWKCAVEHHAFFRLRTPGNSKS
  NRSDFIRLGSRFRFSGRTEYQATHGSRLRRTSTFERKPSKRYPSRRHSTFKASNPVIAAQLCSKTNPEVHNYQPQ
  YHPNIHPSQPRWHPHSPNVSYPLPSPVLSSSDRLPFGIEENGGTPFLTAASGRHHHQHQHQHQHQHHSNYSLSLT
  LENKEGPLRSPNSSSKSLTKLSPGTPALFSEAAAHLKKLELETVKAAGPWPPLHININKAEEKKVSEKTLQTPLL
  PSPVADHVKCNILKAQLENASRVNIQGGKEESPFVNINKKSSLQDASVRSPIPIRVETAQPAVEKPEIKPPRVRK
  LTRQYSFDEDDLPPDLAEAVGVTTSTTTNTTTAATQVSVPLPSPKVQNVSSPHKSEGKGLLSPGAKSPSDRGGAF
  TLEPGDLLMDFTEATPLAEPASNPHCAHSRCSPPLSLPMKEETTGVCMYPPIKTRLIKTFPVDTMNPFPDTFTTG
  PQFTADFRDSKLQCCPGPTSPLIPAATLRPLTETVSTVQTIYTTRKPVSLAASAETLRQELEREKMMKRLLMTEL

• Structural information:
  • Protein Domains: (85..36-)
    (/note="FERM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00084"-)
  • Interpro: IPR030698  IPR019749  IPR000798  IPR014847  IPR014352   IPR035963  IPR019748  IPR019747  IPR000299  IPR018979  IPR018980  IPR011993  IPR029071  
  • Prosite: PS00661 PS50057
  • CDD: cd14473
  • STRING: ENSP00000363694
• Other Databases: GeneCards:  EPB41L4B  Malacards:  EPB41L4B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031032	actomyosin structure organization	IBA	biological process
GO:0005856	cytoskeleton	IBA	cellular component
GO:0008092	cytoskeletal protein binding	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005200	structural constituent of cytoskeleton	TAS	molecular function
GO:0005856	cytoskeleton	TAS	cellular component
GO:0045177	apical part of cell	IDA	cellular component
GO:0031032	actomyosin structure organization	IDA	biological process
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0042060	wound healing	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0010628	positive regulation of gene expression	IMP	biological process
GO:0051549	positive regulation of keratinocyte migration	IMP	biological process
GO:0045785	positive regulation of cell adhesion	IMP	biological process
GO:0010837	regulation of keratinocyte proliferation	IMP	NOT|biological process

KEGG pathways

Pathway id	Pathway name
hsa04530	Tight junction

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)