• Gene id: 55914

Gene Summary

• Gene Symbol: ERBIN   Gene   UCSC   Ensembl
• Aliases: ERBB2IP, HEL-S-78, LAP2
• Gene name: erbb2 interacting protein
• Alternate names: erbin, densin-180-like protein, epididymis secretory protein Li 78, protein LAP2,
• Gene location: 5q12.3 (65926553: 66082545)     Exons: 29     NC_000005.10
• Gene summary(Entrez): This gene is a member of the leucine-rich repeat and PDZ domain (LAP) family. The encoded protein contains 17 leucine-rich repeats and one PDZ domain. It binds to the unphosphorylated form of the ERBB2 protein and regulates ERBB2 function and localization
• OMIM: 606944

Protein Summary

• Protein general information: Q96RT1  
  • Name: Erbin (Densin 180 like protein) (Erbb2 interacting protein) (Protein LAP2)
  • Length: 1412  
  • Mass: 158298
  • Tissue specificity: Highly expressed in brain, heart, kidney, muscle and stomach, followed by liver, spleen and intestine. {ECO
• Sequence:

  MTTKRSLFVRLVPCRCLRGEEETVTTLDYSHCSLEQVPKEIFTFEKTLEELYLDANQIEELPKQLFNCQSLHKLS
  LPDNDLTTLPASIANLINLRELDVSKNGIQEFPENIKNCKVLTIVEASVNPISKLPDGFSQLLNLTQLYLNDAFL
  EFLPANFGRLTKLQILELRENQLKMLPKTMNRLTQLERLDLGSNEFTEVPEVLEQLSGLKEFWMDANRLTFIPGF
  IGSLKQLTYLDVSKNNIEMVEEGISTCENLQDLLLSSNSLQQLPETIGSLKNITTLKIDENQLMYLPDSIGGLIS
  VEELDCSFNEVEALPSSIGQLTNLRTFAADHNYLQQLPPEIGSWKNITVLFLHSNKLETLPEEMGDMQKLKVINL
  SDNRLKNLPFSFTKLQQLTAMWLSDNQSKPLIPLQKETDSETQKMVLTNYMFPQQPRTEDVMFISDNESFNPSLW
  EEQRKQRAQVAFECDEDKDEREAPPREGNLKRYPTPYPDELKNMVKTVQTIVHRLKDEETNEDSGRDLKPHEDQQ
  DINKDVGVKTSESTTTVKSKVDEREKYMIGNSVQKISEPEAEISPGSLPVTANMKASENLKHIVNHDDVFEESEE
  LSSDEEMKMAEMRPPLIETSINQPKVVALSNNKKDDTKETDSLSDEVTHNSNQNNSNCSSPSRMSDSVSLNTDSS
  QDTSLCSPVKQTHIDINSKIRQEDENFNSLLQNGDILNSSTEEKFKAHDKKDFNLPEYDLNVEERLVLIEKSVDS
  TATADDTHKLDHINMNLNKLITNDTFQPEIMERSKTQDIVLGTSFLSINSKEETEHLENGNKYPNLESVNKVNGH
  SEETSQSPNRTEPHDSDCSVDLGISKSTEDLSPQKSGPVGSVVKSHSITNMEIGGLKIYDILSDNGPQQPSTTVK
  ITSAVDGKNIVRSKSATLLYDQPLQVFTGSSSSSDLISGTKAIFKFDSNHNPEEPNIIRGPTSGPQSAPQIYGPP
  QYNIQYSSSAAVKDTLWHSKQNPQIDHASFPPQLLPRSESTENQSYAKHSANMNFSNHNNVRANTAYHLHQRLGP
  ARHGEMWAISPNDRLIPAVTRSTIQRQSSVSSTASVNLGDPGSTRRAQIPEGDYLSYREFHSAGRTPPMMPGSQR
  PLSARTYSIDGPNASRPQSARPSINEIPERTMSVSDFNYSRTSPSKRPNARVGSEHSLLDPPGKSKVPRDWREQV
  LRHIEAKKLEKKHPQTSSSGDPCQDGIFISGQQNYSSATLSHKDVPPDSLMKMPLSNGQMGQPLRPQANYSQIHH
  PPQASVARHPSREQLIDYLMLKVAHQPPYTQPHCSPRQGHELAKQEIRVRVEKDPELGFSISGGVGGRGNPFRPD
  DDGIFVTRVQPEGPASKLLQPGDKIIQANGYSFINIEHGQAVSLLKTFQNTVELIIVREVSS

• Structural information:
  • Protein Domains: (1321..141-)
    (/note="PDZ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143"-)
  • Interpro: IPR032927  IPR001611  IPR003591  IPR032675  IPR001478   IPR036034  
  • Prosite: PS51450 PS50106
  • PDB: 1MFG 1MFL 1N7T 2H3L 2QBW 3CH8 6Q0M 6Q0N 6Q0U
  • PDBsum: 1MFG 1MFL 1N7T 2H3L 2QBW 3CH8 6Q0M 6Q0N 6Q0U
  • STRING: ENSP00000426632
• Other Databases: GeneCards:  ERBIN  Malacards:  ERBIN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0071356	cellular response to tumor necrosis factor	IBA	biological process
GO:0016323	basolateral plasma membrane	IBA	cellular component
GO:0007165	signal transduction	IBA	biological process
GO:0032088	negative regulation of NF-kappaB transcription factor activity	IBA	biological process
GO:0005102	signaling receptor binding	IBA	molecular function
GO:0005176	ErbB-2 class receptor binding	IEA	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0032088	negative regulation of NF-kappaB transcription factor activity	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005604	basement membrane	TAS	cellular component
GO:0007165	signal transduction	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0038128	ERBB2 signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006605	protein targeting	IEA	biological process
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0071638	negative regulation of monocyte chemotactic protein-1 production	IEA	biological process
GO:0098794	postsynapse	IEA	cellular component
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0099072	regulation of postsynaptic membrane neurotransmitter receptor levels	IEA	biological process
GO:0070433	negative regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway	IEA	biological process
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0030056	hemidesmosome	IEA	cellular component
GO:0031965	nuclear membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0030056	hemidesmosome	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0016323	basolateral plasma membrane	IDA	cellular component
GO:0070433	negative regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway	IMP	biological process
GO:0032088	negative regulation of NF-kappaB transcription factor activity	IMP	biological process
GO:0045197	establishment or maintenance of epithelial cell apical/basal polarity	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0071356	cellular response to tumor necrosis factor	IMP	biological process
GO:0032496	response to lipopolysaccharide	IMP	biological process
GO:0032495	response to muramyl dipeptide	IMP	biological process
GO:0005102	signaling receptor binding	IPI	molecular function
GO:0045175	basal protein localization	NAS	biological process
GO:0009925	basal plasma membrane	NAS	cellular component
GO:0007173	epidermal growth factor receptor signaling pathway	TAS	biological process
GO:0007155	cell adhesion	NAS	biological process
GO:0005200	structural constituent of cytoskeleton	NAS	molecular function
GO:0045104	intermediate filament cytoskeleton organization	NAS	biological process
GO:0007229	integrin-mediated signaling pathway	NAS	biological process
GO:0005176	ErbB-2 class receptor binding	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04621	NOD-like receptor signaling pathway

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray