ERBIN - erbb2 interacting protein Gene

Also Known as LAP2; ERBB2IP; HEL-S-78

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55914

About ERBIN

Cytogenetic location: 5q12.3 Genomic coordinates (GRCh38): 5:65,926,575-66,082,546 (from NCBI)

This gene has 30 transcripts (splice variants), 196 orthologues and 31 paralogues. Ubiquitous expression in small intestine (RPKM 17.6), lymph node (RPKM 17.5) and 25 other tissues.

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. It has also been shown to affect the Ras signaling pathway by disrupting Ras-Raf interaction. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

ERBIN Products (6)

mRNA	Protein	Name
NM_001006600.3	NP_001006600.1	erbin isoform 7
NM_001253697.2	NP_001240626.1	erbin isoform 1
NM_001253698.2	NP_001240627.1	erbin isoform 4
NM_001253699.2	NP_001240628.1	erbin isoform 8
NM_001253701.2	NP_001240630.1	erbin isoform 9
NM_018695.4	NP_061165.1	erbin isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	11375975	GOA
enables signaling receptor binding	IPI IPI: Inferred from physical interaction	16203728	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cellular response to tumor necrosis factor	IMP IMP: Inferred from mutant phenotype	16203728	GOA
involved in negative regulation of NF-kappaB transcription factor activity	IMP IMP: Inferred from mutant phenotype	16203728	GOA
involved in negative regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway	IMP IMP: Inferred from mutant phenotype	16203728	GOA
involved in response to lipopolysaccharide	IMP IMP: Inferred from mutant phenotype	16203728	GOA
involved in response to muramyl dipeptide	IMP IMP: Inferred from mutant phenotype	16203728	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in basolateral plasma membrane	IDA IDA: Inferred from direct assay	16203728	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	11375975	GOA
located in hemidesmosome	IDA IDA: Inferred from direct assay	11375975	GOA
located in nucleus	IDA IDA: Inferred from direct assay	11375975	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ERBIN Protein Structure

LRR_4

LRR_8

PDZ

0
300
600
900
1200
1412 a.a.

Protein Preferred Names	Protein Names
erbin	densin-180-like protein

ERBIN Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ERBIN	Q96RT1	PKP4	Homo sapiens	Q99569	IF	12047349
Intra	ERBIN	Q96RT1	PKP4	Homo sapiens	Q99569	Phage Display	24550280
Intra	ERBIN	Q96RT1	PKP4	Homo sapiens	Q99569	Anti Bait CoIP	12047349
Intra	ERBIN	Q96RT1	NOD2	Homo sapiens	Q9HC29	Anti Bait CoIP	16203728

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Petrous Apex Meningioma	Meningioma Of The Petrous Ridge
Cri-Du-Chat Syndrome	5p Deletion Syndrome 5p Partial Monosomy Syndrome Monosomy 5p Cat Cry Syndrome Chromosome 5p Deletion Syndrome Cri Du Chat Syndrome 5p- Syndrome 5p Minus Syndrome Chromosome 5p- Syndrome Chromosome 5 Short Arm Deletion Syndrome Chromosome 5p Deletion Deletion 5p Cri Du Chat 5p Partial Deletion Syndrome Partial Deletion Of Short Arm Of Chromosome 5 Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04475	ERBIN Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	ERBIN	RGD	RGD:1562952
Canis familiaris	ERBIN	VGNC	VGNC:40438
Bos taurus	ERBIN	VGNC	VGNC:28565
Mus musculus	ERBIN	MGD	MGI:1890169
Felis catus	ERBIN	VGNC	VGNC:102196
Macaca mulatta	ERBIN	VGNC	VGNC:81395
Others	ERBIN	NCBI