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

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 Ileum Cancer and Congenital Muscular Dystrophy Due To Lmna Mutation. Among its related pathways are Signaling by ERBB2 and Nucleotide-binding Oligomerization Domain (NOD) pathway. An important paralog of this gene is LRRC7.

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

Additional gene information for ERBIN Gene

No data available for CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05H065845 1.1 Ensembl ENCODE 20.2 -80.5 -80537 1 ZFP64 RARA ZNF121 ZNF138 ZNF202 ZNF654 ZNF680 SMAD5 ZC3H11A CEBPB PPWD1 SREK1 TRAPPC13 ERBIN TRIM23 CENPK NLN ENSG00000269961 GC05P065768
GH05H065859 0.8 Ensembl ENCODE 25.6 -65.0 -64958 4 HIC1 PKNOX1 JUND SCRT2 ZBTB33 MAFK ERBIN ENSG00000252904 NLN ENSG00000269961 GC05P065768
GH05H065866 0.8 Ensembl ENCODE 21.3 -59.0 -59035 1 PKNOX1 PRDM6 JUN HLF PRDM10 WT1 TCF7L2 ERBIN ENSG00000269961 GC05P065768
GH05H065734 0.9 FANTOM5 ENCODE 17.9 -191.3 -191330 0 REST ETV6 SPI1 ERBIN NLN SGTB SREK1 LOC100419549 GC05P065768
GH05H065830 1 FANTOM5 ENCODE dbSUPER 15.6 -95.4 -95448 0 ZNF664 ZNF585B ERBIN TRAPPC13 PPWD1 TRIM23 GC05P065768 ENSG00000269961
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000181636 535 4801 HDGF ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766 CBX5

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-ERBIN_HUMAN
    Recommended name:
    Erbin
    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

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

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Protein Domains for ERBIN Gene

Graphical View of Domain Structure for InterPro Entry

Q96RT1

UniProtKB/Swiss-Prot:

ERBIN_HUMAN :
  • Belongs to the LAP (LRR and PDZ) protein family.
Family:
  • Belongs to the LAP (LRR and PDZ) protein family.
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).

Phenotypes From GWAS Catalog for ERBIN Gene

Gene Ontology (GO) - Molecular Function for ERBIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 receptor binding IPI 16203728
GO:0005176 ErbB-2 class receptor binding TAS 11375975
GO:0005178 integrin binding IPI 11375975
GO:0005200 structural constituent of cytoskeleton NAS 11375975
GO:0005515 protein binding IPI 11375975
genes like me logo Genes that share ontologies with ERBIN: view
genes like me logo Genes that share phenotypes with ERBIN: view

Animal Models for ERBIN Gene

MGI Knock Outs for ERBIN:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ERBIN
  • Applied Biological Materials Clones for ERBIN
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , 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}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ERBIN gene
Compartment Confidence
plasma membrane 5
nucleus 5
extracellular 4
mitochondrion 3
peroxisome 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (3)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ERBIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005604 basement membrane TAS 10878805
GO:0005634 nucleus IDA,IEA 11375975
GO:0005737 cytoplasm IDA 11375975
GO:0005886 plasma membrane TAS --
GO:0009925 basal plasma membrane NAS 11375975
genes like me logo Genes that share ontologies with ERBIN: view

Pathways & Interactions for ERBIN Gene

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

Gene Ontology (GO) - Biological Process for ERBIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006605 protein targeting IEA --
GO:0007049 cell cycle NAS 11375975
GO:0007155 cell adhesion NAS 11375975
GO:0007165 signal transduction TAS 10878805
GO:0007173 epidermal growth factor receptor signaling pathway TAS 11375975
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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ERBIN
  • Applied Biological Materials Clones for ERBIN
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

NURSA nuclear receptor signaling pathways regulating expression of ERBIN Gene:

ERBIN

mRNA Expression by UniProt/SwissProt for ERBIN Gene:

Q96RT1-ERBIN_HUMAN
Tissue specificity: Highly expressed in brain, heart, kidney, muscle and stomach, followed by liver, spleen and intestine.

Evidence on tissue expression from TISSUES for ERBIN Gene

  • Nervous system(4.8)
  • Blood(4.4)
  • Liver(4.4)
  • Skin(4.4)
  • Kidney(2.3)
  • Spleen(2)
genes like me logo Genes that share expression patterns with ERBIN: view

Primer Products

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia ERBB2IP 33 34
  • 99.74 (n)
dog
(Canis familiaris)
Mammalia ERBB2IP 33 34
  • 92.9 (n)
cow
(Bos Taurus)
Mammalia ERBB2IP 33 34
  • 92.51 (n)
mouse
(Mus musculus)
Mammalia Erbb2ip 33 34
  • 88.98 (n)
Erbin 16
rat
(Rattus norvegicus)
Mammalia RGD1562952 33
  • 88.88 (n)
oppossum
(Monodelphis domestica)
Mammalia ERBB2IP 34
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ERBB2IP 34
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves ERBB2IP 33 34
  • 78.62 (n)
lizard
(Anolis carolinensis)
Reptilia ERBB2IP 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia erbb2ip 33
  • 71.15 (n)
zebrafish
(Danio rerio)
Actinopterygii erbb2ip 33 34
  • 63 (n)
fruit fly
(Drosophila melanogaster)
Insecta Lap1 34
  • 32 (a)
OneToMany
Species where no ortholog for ERBIN was found in the sources mined by GeneCards:
  • 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
rs193921009 Uncertain significance 66,075,145(+) TGATT(A/T)CTTGA intron-variant, reference, missense
rs1000006724 -- 66,073,802(+) AAATT(A/G)TAAGT intron-variant
rs1000010478 -- 65,939,507(+) CGCTC(C/T)CCCTC intron-variant
rs1000012120 -- 65,952,517(+) GGGTT(-/G)GCGCC intron-variant
rs1000014037 -- 66,033,145(+) AGGCT(C/T)CATTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ERBIN Gene

Variant ID Type Subtype PubMed ID
dgv9825n54 CNV gain 21841781
esv1010663 CNV deletion 20482838
esv1036921 CNV deletion 17803354
esv2151663 CNV deletion 18987734
esv23411 CNV loss 19812545
esv2381441 CNV deletion 18987734
esv2411305 CNV deletion 18987734
esv2472252 CNV deletion 19546169
esv2662265 CNV deletion 23128226
esv2730278 CNV deletion 23290073
esv29131 CNV loss 19812545
esv3351081 CNV insertion 20981092
esv3566035 CNV deletion 23714750
esv3605307 CNV loss 21293372
esv3894205 CNV gain 25118596
esv4869 CNV loss 18987735
esv7534 CNV loss 19470904
nsv1073459 CNV deletion 25765185
nsv1137002 CNV deletion 24896259
nsv473385 CNV novel sequence insertion 20440878
nsv517132 CNV loss 19592680
nsv518239 CNV loss 19592680
nsv525852 CNV loss 19592680
nsv598399 CNV loss 21841781
nsv598404 CNV loss 21841781
nsv830327 CNV gain 17160897
nsv956441 CNV deletion 24416366

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)

Relevant External Links for ERBIN Gene

Human Gene Mutation Database (HGMD)
ERBIN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ERBIN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ERBIN Gene

Disorders for ERBIN Gene

MalaCards: The human disease database

(2) MalaCards diseases for ERBIN Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
ileum cancer
  • ileal neoplasm
congenital muscular dystrophy due to lmna mutation
  • congenital muscular dystrophy lmna-related
- 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
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 JP … Birnbaum D (Nature cell biology 2000) 2 3 4 22 60
  2. Comparative structural analysis of the Erbin PDZ domain and the first PDZ domain of ZO-1. Insights into determinants of PDZ domain specificity. (PMID: 16737969) Appleton BA … Wiesmann C (The Journal of biological chemistry 2006) 3 4 22 60
  3. Origins of PDZ domain ligand specificity. Structure determination and mutagenesis of the Erbin PDZ domain. (PMID: 12446668) Skelton NJ … Sidhu SS (The Journal of biological chemistry 2003) 3 4 22 60
  4. Novel mode of ligand recognition by the Erbin PDZ domain. (PMID: 12444095) Birrane G … Ladias JA (The Journal of biological chemistry 2003) 3 4 22 60
  5. The Erbin PDZ domain binds with high affinity and specificity to the carboxyl termini of delta-catenin and ARVCF. (PMID: 11821434) Laura RP … Lasky LA (The Journal of biological chemistry 2002) 3 4 22 60

Products for ERBIN Gene

  • Addgene plasmids for ERBIN

Sources for ERBIN Gene

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