Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	55914
Gene name	Erbb2 interacting protein
Gene symbol	ERBIN
Synonyms (NCBI Gene)	ERBB2IPHEL-S-78LAP2
Chromosome	5
Chromosome location	5q12.3
Summary	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

Show/Hide all (32)

miRTarBase ID	miRNA	Experiments	Reference
MIRT703885	hsa-miR-183-5p	HITS-CLIP	23313552
MIRT703883	hsa-miR-6819-3p	HITS-CLIP	23313552
MIRT703882	hsa-miR-6877-3p	HITS-CLIP	23313552
MIRT703881	hsa-miR-6740-3p	HITS-CLIP	23313552
MIRT703880	hsa-miR-6843-3p	HITS-CLIP	23313552
MIRT703879	hsa-miR-6848-3p	HITS-CLIP	23313552
MIRT703878	hsa-miR-7159-3p	HITS-CLIP	23313552
MIRT573115	hsa-miR-4662a-3p	PAR-CLIP	20371350
MIRT573113	hsa-miR-1183	PAR-CLIP	20371350
MIRT573114	hsa-miR-5197-3p	PAR-CLIP	20371350
MIRT573112	hsa-miR-873-3p	PAR-CLIP	20371350
MIRT573111	hsa-miR-7154-5p	PAR-CLIP	20371350
MIRT573110	hsa-miR-433-3p	PAR-CLIP	20371350
MIRT573109	hsa-miR-3672	PAR-CLIP	20371350
MIRT573108	hsa-miR-6864-3p	PAR-CLIP	20371350
MIRT573107	hsa-miR-3977	PAR-CLIP	20371350
MIRT096901	hsa-miR-454-3p	PAR-CLIP	22012620
MIRT096904	hsa-miR-4295	PAR-CLIP	22012620
MIRT096902	hsa-miR-301b-3p	PAR-CLIP	22012620
MIRT096905	hsa-miR-3666	PAR-CLIP	22012620
MIRT096896	hsa-miR-301a-3p	PAR-CLIP	22012620
MIRT096894	hsa-miR-130a-3p	PAR-CLIP	22012620
MIRT096897	hsa-miR-130b-3p	PAR-CLIP	22012620
MIRT096893	hsa-miR-16-2-3p	PAR-CLIP	22012620
MIRT096895	hsa-miR-195-3p	PAR-CLIP	22012620
MIRT537663	hsa-miR-4635	PAR-CLIP	22012620
MIRT537662	hsa-miR-130a-5p	PAR-CLIP	22012620
MIRT537661	hsa-miR-23a-3p	PAR-CLIP	22012620
MIRT537660	hsa-miR-23b-3p	PAR-CLIP	22012620
MIRT537659	hsa-miR-23c	PAR-CLIP	22012620
MIRT537658	hsa-miR-488-3p	PAR-CLIP	22012620
MIRT096908	hsa-miR-8081	PAR-CLIP	22012620

Show/Hide all (45)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005102	Function	Signaling receptor binding	IPI	16203728
GO:0005176	Function	ErbB-2 class receptor binding	TAS	11375975
GO:0005200	Function	Structural constituent of cytoskeleton	NAS	11375975
GO:0005515	Function	Protein binding	IPI	11375975, 12047349, 16203728, 16714539, 24550280, 30833792
GO:0005604	Component	Basement membrane	TAS	10878805
GO:0005634	Component	Nucleus	IDA	11375975
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	11375975
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006605	Process	Protein targeting	IEA
GO:0007155	Process	Cell adhesion	NAS	11375975
GO:0007165	Process	Signal transduction	TAS	10878805
GO:0007173	Process	Epidermal growth factor receptor signaling pathway	TAS	11375975
GO:0007229	Process	Integrin-mediated signaling pathway	NAS	11375975
GO:0009925	Component	Basal plasma membrane	NAS	11375975
GO:0010468	Process	Regulation of gene expression	IEA
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IDA	16203728
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016607	Component	Nuclear speck	IDA
GO:0030054	Component	Cell junction	IDA
GO:0030054	Component	Cell junction	IEA
GO:0030056	Component	Hemidesmosome	IDA	11375975
GO:0030056	Component	Hemidesmosome	IEA
GO:0031594	Component	Neuromuscular junction	IEA
GO:0031965	Component	Nuclear membrane	IEA
GO:0032088	Process	Negative regulation of NF-kappaB transcription factor activity	IMP	16203728
GO:0032495	Process	Response to muramyl dipeptide	IMP	16203728
GO:0032496	Process	Response to lipopolysaccharide	IMP	16203728
GO:0035556	Process	Intracellular signal transduction	IBA
GO:0045104	Process	Intermediate filament cytoskeleton organization	NAS	11375975
GO:0045175	Process	Basal protein localization	NAS	11375975
GO:0045197	Process	Establishment or maintenance of epithelial cell apical/basal polarity	NAS	11375975
GO:0070161	Component	Anchoring junction	IEA
GO:0070433	Process	Negative regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway	IBA
GO:0070433	Process	Negative regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway	IEA
GO:0070433	Process	Negative regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway	IMP	16203728
GO:0071356	Process	Cellular response to tumor necrosis factor	IMP	16203728
GO:0071638	Process	Negative regulation of monocyte chemotactic protein-1 production	IEA
GO:0098794	Component	Postsynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099072	Process	Regulation of postsynaptic membrane neurotransmitter receptor levels	IEA
GO:0099572	Component	Postsynaptic specialization	IEA

MIM	HGNC	e!Ensembl
606944	15842	ENSG00000112851

Q96RT1

Protein name

Erbin (Densin-180-like protein) (Erbb2-interacting protein) (Protein LAP2)

Protein function

Acts as an adapter for the receptor ERBB2, in epithelia. By binding the unphosphorylated 'Tyr-1248' of receptor ERBB2, it may contribute to stabilize this unphosphorylated state (PubMed:16203728). Inhibits NOD2-dependent NF-kappa-B signaling and

PDB

1MFG , 1MFL , 1N7T , 2H3L , 2QBW , 3CH8 , 6Q0M , 6Q0N , 6Q0U , 6UBH , 7LUL

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13855	LRR_8	46 → 104	Leucine rich repeat	Repeat
PF13855	LRR_8	345 → 402	Leucine rich repeat	Repeat
PF00595	PDZ	1321 → 1407	PDZ domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in brain, heart, kidney, muscle and stomach, followed by liver, spleen and intestine. {ECO:0000269|PubMed:10878805}.

Sequence

MTTKRSLFVRLVPCRCLRGEEETVTTLDYSHCSLEQVPKEIFTFEKTLEELYLDANQIEE
LPKQLFNCQSLHKLSLPDNDLTTLPASIANLINLRELDVSKNGIQEFPENIKNCKVLTIV
EASVNPISKLPDGFSQLLNLTQLYLNDAFLEFLPANFGRLTKLQILELRENQLKMLPKTM
NRLTQLERLDLGSNEFTEVPEVLEQLSGLKEFWMDANRLTFIPGFIGSLKQLTYLDVSKN
NIEMVEEGISTCENLQDLLLSSNSLQQLPETIGSLKNITTLKIDENQLMYLPDSIGGLIS
VEELDCSFNEVEALPSSIGQLTNLRTFAADHNYLQQLPPEIGSWKNITVLFLHSNKLETL
PEEMGDMQKLKVINLSDNRLKNLPFSFTKLQQLTAMWLSDNQSKPLIPLQKETDSETQKM
VLTNYMFPQQPRTEDVMFISDNESFNPSLWEEQRKQRAQVAFECDEDKDEREAPPREGNL
KRYPTPYPDELKNMVKTVQTIVHRLKDEETNEDSGRDLKPHEDQQDINKDVGVKTSESTT
TVKSKVDEREKYMIGNSVQKISEPEAEISPGSLPVTANMKASENLKHIVNHDDVFEESEE
LSSDEEMKMAEMRPPLIETSINQPKVVALSNNKKDDTKETDSLSDEVTHNSNQNNSNCSS
PSRMSDSVSLNTDSSQDTSLCSPVKQTHIDINSKIRQEDENFNSLLQNGDILNSSTEEKF
KAHDKKDFNLPEYDLNVEERLVLIEKSVDSTATADDTHKLDHINMNLNKLITNDTFQPEI
MERSKTQDIVLGTSFLSINSKEETEHLENGNKYPNLESVNKVNGHSEETSQSPNRTEPHD
SDCSVDLGISKSTEDLSPQKSGPVGSVVKSHSITNMEIGGLKIYDILSDNGPQQPSTTVK
ITSAVDGKNIVRSKSATLLYDQPLQVFTGSSSSSDLISGTKAIFKFDSNHNPEEPNIIRG
PTSGPQSAPQIYGPPQYNIQYSSSAAVKDTLWHSKQNPQIDHASFPPQLLPRSESTENQS
YAKHSANMNFSNHNNVRANTAYHLHQRLGPARHGEMWAISPNDRLIPAVTRSTIQRQSSV
SSTASVNLGDPGSTRRAQIPEGDYLSYREFHSAGRTPPMMPGSQRPLSARTYSIDGPNAS
RPQSARPSINEIPERTMSVSDFNYSRTSPSKRPNARVGSEHSLLDPPGKSKVPRDWREQV
LRHIEAKKLEKKHPQTSSSGDPCQDGIFISGQQNYSSATLSHKDVPPDSLMKMPLSNGQM
GQPLRPQANYSQIHHPPQASVARHPSREQLIDYLMLKVAHQPPYTQPHCSPRQGHELAKQ
EIRVRVEKDPELGFSISGGVGGRGNPFRPDDDGIFVTRVQPEGPASKLLQPGDKIIQANG
YSFINIEHGQAVSLLKTFQNTVELIIVREVSS

Sequence length

1412

Interactions

View interactions

	KEGG		Reactome
	NOD-like receptor signaling pathway		Signaling by ERBB2 Downregulation of ERBB2 signaling Constitutive Signaling by Overexpressed ERBB2 Drug-mediated inhibition of ERBB2 signaling Signaling by ERBB2 KD Mutants Resistance of ERBB2 KD mutants to trastuzumab Resistance of ERBB2 KD mutants to sapitinib Resistance of ERBB2 KD mutants to tesevatinib Resistance of ERBB2 KD mutants to neratinib Resistance of ERBB2 KD mutants to osimertinib Resistance of ERBB2 KD mutants to afatinib Resistance of ERBB2 KD mutants to AEE788 Resistance of ERBB2 KD mutants to lapatinib Signaling by ERBB2 ECD mutants Signaling by ERBB2 TMD/JMD mutants Drug resistance in ERBB2 TMD/JMD mutants

Show/Hide Unknown Diseases (15)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs35601230	RCV005908713
Amelia cleft lip palate hydrocephalus iris coloboma	Uncertain significance	rs2151238911	RCV005863528
Cervical cancer	Benign	rs34521887	RCV005903343
Colon adenocarcinoma	Benign	rs35601230	RCV005908712
ERBIN-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	rs373419259, rs146472115, rs200286319, rs148121803, rs374136182, rs34832453, rs74362544, rs533894721, rs138227361, rs147096101, rs182337623, rs374278956, rs201928607, rs2151239445, rs141058175 View all (41 more)	RCV003416189 RCV003953660 RCV004749663 RCV003928889 RCV003938796 RCV003931034 RCV003948477 RCV003931147 RCV003908807 RCV003940964 RCV003940975 RCV003403658 RCV003968649 RCV003395333 RCV003948819 RCV003408033 RCV004749809 RCV003418334 RCV003408104 RCV003911091 RCV003948865 RCV003408020 RCV003913476 RCV003903441 RCV003968772 RCV003970963 RCV003978881 RCV003950970 RCV003895822 RCV003893099 RCV003410063 RCV003963673 RCV003898425 RCV003416793 RCV003410694 RCV003393112 RCV003402191 RCV003410422 RCV003405891 RCV003405915 RCV003893568 RCV003896862 RCV003982584 RCV003982699 RCV003894398 RCV003981451 RCV003901752 RCV003961670 RCV003949619 RCV003971645 RCV003978342 RCV003960614 RCV003913299 RCV003926161 RCV003916053 RCV003958325 RCV003950792
Gastric cancer	Uncertain significance	rs765071385	RCV005926746
Hepatocellular carcinoma	Benign	rs27132	RCV005927811
Lung cancer	Benign	rs35601230	RCV005908716
Malignant tumor of esophagus	Likely benign	rs189776329	RCV005921012
Malignant tumor of urinary bladder	Likely benign	rs1758949020	RCV005931294
Nonpapillary renal cell carcinoma	Benign	rs35601230	RCV005908714
Prostate cancer	Uncertain significance	rs193921009	RCV000149257
Sarcoma	Benign	rs34521887	RCV005903344
Thyroid cancer, nonmedullary, 1	Benign	rs35601230	RCV005908715
Uterine corpus endometrial carcinoma	Uncertain significance; Benign	rs140225399, rs766536039, rs35601230	RCV005925637 RCV005925410 RCV005908717

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	35650630
Barrett Esophagus	Associate	35437997
Blister	Associate	16185268
Carcinoma Hepatocellular	Associate	39778021
Carcinoma Squamous Cell	Associate	26908436
Cholangiocarcinoma	Associate	24812403
Colonic Neoplasms	Associate	17164780
Dendritic Cell Sarcoma Follicular	Associate	30508944
Eosinophilic Esophagitis	Stimulate	35437997
Epidermolysis Bullosa	Associate	16185268
Leukemia Myeloid Acute	Associate	30799283
Neoplasm Metastasis	Associate	32455867
Neoplasms	Associate	17164780, 24812403, 30508944, 30655320, 30799283
Noonan Like Syndrome With Loose Anagen Hair	Associate	23524970
Prostatic Neoplasms	Associate	25472581

ERBIN (erbb2 interacting protein)