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Aliases for ERBIN Gene

Aliases for ERBIN Gene

  • Erbb2 Interacting Protein 2 3 5
  • Densin-180-Like Protein 2 3 4
  • ERBB2IP 3 4 5
  • Erbb2-Interacting Protein 2 4
  • LAP2 3 4
  • Epididymis Secretory Protein Li 78 3
  • ERBB2-Interacting Protein 2
  • HEL-S-78 3
  • KIAA1225 4
  • Erbin 4

External Ids for ERBIN Gene

Previous HGNC Symbols for ERBIN Gene

  • ERBB2IP

Summaries for ERBIN Gene

Entrez Gene Summary for ERBIN Gene

  • 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]

GeneCards Summary for ERBIN Gene

ERBIN (Erbb2 Interacting Protein) is a Protein Coding gene. Diseases associated with ERBIN include Cardiomyopathy, Dilated, 1T. Among its related pathways are Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways and TGF-beta Receptor Signaling Pathway. An important paralog of this gene is LRRC30.

UniProtKB/Swiss-Prot for ERBIN Gene

  • 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 proinflammatory cytokine secretion (PubMed:16203728).

Gene Wiki entry for ERBIN Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ERBIN Gene

Genomics for ERBIN Gene

Regulatory Elements for ERBIN Gene

Enhancers for ERBIN Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ERBIN on UCSC Golden Path with GeneCards custom track

Promoters for ERBIN Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ERBIN on UCSC Golden Path with GeneCards custom track

Genomic Location for ERBIN Gene

Chromosome:
5
Start:
65,926,465 bp from pter
End:
66,082,549 bp from pter
Size:
156,085 bases
Orientation:
Plus strand

Genomic View for ERBIN Gene

Genes around ERBIN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ERBIN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ERBIN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ERBIN Gene

Proteins for ERBIN Gene

  • Protein details for ERBIN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96RT1-LAP2_HUMAN
    Recommended name:
    Protein LAP2
    Protein Accession:
    Q96RT1
    Secondary Accessions:
    • A0AVR1
    • B4E3F1
    • B7ZLV9
    • E7EQW9
    • E9PCR8
    • Q1RMD0
    • Q86W38
    • Q9NR18
    • Q9NW48
    • Q9ULJ5

    Protein attributes for ERBIN Gene

    Size:
    1412 amino acids
    Molecular mass:
    158298 Da
    Quaternary structure:
    • Interacts with ERBB2, BPAG1 and ITGB4 (PubMed:10878805, PubMed:11375975, PubMed:12444095). May favor the localization of ERBB2, by restricting its presence to the basolateral membrane of epithelial cells. Also found to interact with ARVCF and delta catenin (PubMed:11821434). Interacts (via C-terminus) with DST Isoform 3 (via N-terminus) (PubMed:11375975). Interacts with NOD2 (via CARD domain) (PubMed:16203728).
    SequenceCaution:
    • Sequence=AAH50692.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAA91538.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ERBIN Gene

    Alternative splice isoforms for ERBIN Gene

neXtProt entry for ERBIN Gene

Proteomics data for ERBIN Gene at MOPED

Post-translational modifications for ERBIN Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ERBIN Gene

Domains & Families for ERBIN Gene

Gene Families for ERBIN Gene

Protein Domains for ERBIN Gene

Graphical View of Domain Structure for InterPro Entry

Q96RT1

UniProtKB/Swiss-Prot:

LAP2_HUMAN :
  • Contains 1 PDZ (DHR) domain.
  • Belongs to the LAP (LRR and PDZ) protein family.
  • Contains 17 LRR (leucine-rich) repeats.
Domain:
  • Contains 1 PDZ (DHR) domain.
Family:
  • Belongs to the LAP (LRR and PDZ) protein family.
Similarity:
  • Contains 17 LRR (leucine-rich) repeats.
genes like me logo Genes that share domains with ERBIN: view

Function for ERBIN Gene

Molecular function for ERBIN Gene

UniProtKB/Swiss-Prot 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 proinflammatory cytokine secretion (PubMed:16203728).
genes like me logo Genes that share phenotypes with ERBIN: view

Animal Models for ERBIN Gene

MGI Knock Outs for ERBIN:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ERBIN Gene

Localization for ERBIN Gene

Subcellular locations from UniProtKB/Swiss-Prot for ERBIN Gene

Cell junction, hemidesmosome. Nucleus membrane. Basolateral cell membrane. Note=Found in hemidesmosomes, which are cell-substrate adhesion complexes in stratified epithelia. In transfected cells, either diffusely distributed over the cytoplasm or concentrated at the basolateral membrane. Colocalizes with the adrenergic receptors, ADREN1A and ADREN1B, at the nuclear membrane of cardiac myocytes (By similarity). {ECO:0000250}.

Gene Ontology (GO) - Cellular Components for ERBIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005604 basement membrane TAS 10878805
GO:0031965 nuclear membrane IEA --
genes like me logo Genes that share ontologies with ERBIN: view

No data available for Subcellular locations from COMPARTMENTS for ERBIN Gene

Pathways & Interactions for ERBIN Gene

genes like me logo Genes that share pathways with ERBIN: view

Pathways by source for ERBIN Gene

Gene Ontology (GO) - Biological Process for ERBIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006605 protein targeting IEA --
GO:0007155 cell adhesion NAS 11375975
GO:0007165 signal transduction TAS 10878805
GO:0007229 integrin-mediated signaling pathway NAS 11375975
GO:0038128 ERBB2 signaling pathway TAS --
genes like me logo Genes that share ontologies with ERBIN: view

No data available for SIGNOR curated interactions for ERBIN Gene

Drugs & Compounds for ERBIN Gene

(2) Drugs for ERBIN Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with ERBIN: view

Transcripts for ERBIN Gene

Alternative Splicing Database (ASD) splice patterns (SP) for ERBIN Gene

No ASD Table

Relevant External Links for ERBIN Gene

GeneLoc Exon Structure for
ERBIN
ECgene alternative splicing isoforms for
ERBIN

Expression for ERBIN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA Expression by UniProt/SwissProt for ERBIN Gene

Q96RT1-LAP2_HUMAN
Tissue specificity: Highly expressed in brain, heart, kidney, muscle and stomach, followed by liver, spleen and intestine.
genes like me logo Genes that share expression patterns with ERBIN: view

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for ERBIN Gene

Orthologs for ERBIN Gene

This gene was present in the common ancestor of animals.

Orthologs for ERBIN Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ERBB2IP 35
  • 92.51 (n)
  • 92.77 (a)
ERBB2IP 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ERBB2IP 35
  • 92.9 (n)
  • 93.09 (a)
ERBB2IP 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Erbb2ip 35
  • 88.98 (n)
  • 90.35 (a)
Erbb2ip 16
Erbb2ip 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ERBB2IP 35
  • 99.74 (n)
  • 99.79 (a)
ERBB2IP 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1562952 35
  • 88.88 (n)
  • 89.12 (a)
oppossum
(Monodelphis domestica)
Mammalia ERBB2IP 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ERBB2IP 36
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves ERBB2IP 35
  • 78.62 (n)
  • 80.19 (a)
ERBB2IP 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ERBB2IP 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia erbb2ip 35
  • 71.15 (n)
  • 73.17 (a)
zebrafish
(Danio rerio)
Actinopterygii erbb2ip 35
  • 63 (n)
  • 66.36 (a)
erbb2ip 36
  • 63 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Lap1 36
  • 32 (a)
OneToMany
Species with no ortholog for ERBIN:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ERBIN Gene

ENSEMBL:
Gene Tree for ERBIN (if available)
TreeFam:
Gene Tree for ERBIN (if available)

Paralogs for ERBIN Gene

genes like me logo Genes that share paralogs with ERBIN: view

Variants for ERBIN Gene

Sequence variations from dbSNP and Humsavar for ERBIN Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs706676 -- 66,002,021(+) catgt(A/G)ttctg intron-variant
rs706678 -- 66,012,227(+) TCAAT(C/G)TTAAG intron-variant
rs706679 -- 66,021,353(+) AAAGA(C/T)TGGAT reference, synonymous-codon
rs706680 -- 66,021,510(+) AGATA(C/T)GAAAT intron-variant
rs706681 -- 66,022,085(+) TAAGC(A/C)TAGGA intron-variant

Variation tolerance for ERBIN Gene

Residual Variation Intolerance Score: 63.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.64; 89.14% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Relevant External Links for ERBIN Gene

Disorders for ERBIN Gene

MalaCards: The human disease database

(1) MalaCards diseases for ERBIN Gene - From: OMIM

Disorder Aliases PubMed IDs
cardiomyopathy, dilated, 1t
  • cardiomyopathy, dilated 1t
- elite association - COSMIC cancer census association via MalaCards
Search ERBIN in MalaCards View complete list of genes associated with diseases

Relevant External Links for ERBIN

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ERBIN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ERBIN
genes like me logo Genes that share disorders with ERBIN: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ERBIN Gene

Publications for ERBIN Gene

  1. ERBIN: a basolateral PDZ protein that interacts with the mammalian ERBB2/HER2 receptor. (PMID: 10878805) Borg J.-P. … Birnbaum D. (Nat. Cell Biol. 2000) 2 3 4 23 67
  2. Biochemical studies and molecular dynamics simulations of Smad3-Erbin interaction identify a non-classical Erbin PDZ binding. (PMID: 19013433) DAcliot N. … Borg J.P. (Biochem. Biophys. Res. Commun. 2009) 3 23
  3. Palmitoylation of ERBIN is required for its plasma membrane localization. (PMID: 18498353) Izawa I. … Inagaki M. (Genes Cells 2008) 3 23
  4. The PDZ protein erbin modulates beta-catenin-dependent transcription. (PMID: 18667832) Ress A. … Moelling K. (Eur Surg Res 2008) 3 23
  5. Erbin inhibits transforming growth factor beta signaling through a novel Smad-interacting domain. (PMID: 17591701) Dai F. … Feng X.H. (Mol. Cell. Biol. 2007) 3 23

Products for ERBIN Gene

Sources for ERBIN Gene

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