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Aliases for LIN7B Gene

Aliases for LIN7B Gene

  • Lin-7 Homolog B, Crumbs Cell Polarity Complex Component 2 3 5
  • Mammalian Lin-Seven Protein 2 3 4
  • Vertebrate Lin-7 Homolog 2 3 4
  • LIN-7B 3 4
  • Veli-2 3 4
  • MALS-2 3 4
  • HLin7B 3 4
  • HVeli2 3 4
  • MALS2 3 4
  • VELI2 3 4
  • Lin-7 Homolog B (C. Elegans) 2
  • Protein Lin-7 Homolog B 3

External Ids for LIN7B Gene

Previous GeneCards Identifiers for LIN7B Gene

  • GC19P050275
  • GC19P049985
  • GC19P054293
  • GC19P054309
  • GC19P054275
  • GC19P049618
  • GC19P045993
  • GC19P049623
  • GC19P049627

Summaries for LIN7B Gene

GeneCards Summary for LIN7B Gene

LIN7B (Lin-7 Homolog B, Crumbs Cell Polarity Complex Component) is a Protein Coding gene. Diseases associated with LIN7B include Retinitis Pigmentosa 24. Among its related pathways are Protein-protein interactions at synapses and Neurotransmitter Release Cycle. GO annotations related to this gene include protein domain specific binding and L27 domain binding. An important paralog of this gene is LIN7C.

UniProtKB/Swiss-Prot for LIN7B Gene

  • Plays a role in establishing and maintaining the asymmetric distribution of channels and receptors at the plasma membrane of polarized cells. Forms membrane-associated multiprotein complexes that may regulate delivery and recycling of proteins to the correct membrane domains. The tripartite complex composed of LIN7 (LIN7A, LIN7B or LIN7C), CASK and APBA1 may have the potential to couple synaptic vesicle exocytosis to cell adhesion in brain. Ensures the proper localization of GRIN2B (subunit 2B of the NMDA receptor) to neuronal postsynaptic density and may function in localizing synaptic vesicles at synapses where it is recruited by beta-catenin and cadherin. Required to localize Kir2 channels, GABA transporter (SLC6A12) and EGFR/ERBB1, ERBB2, ERBB3 and ERBB4 to the basolateral membrane of epithelial cells. May increase the amplitude of ASIC3 acid-evoked currents by stabilizing the channel at the cell surface (By similarity).

Gene Wiki entry for LIN7B Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LIN7B Gene

Genomics for LIN7B Gene

Regulatory Elements for LIN7B Gene

Enhancers for LIN7B 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
GH19G049135 1.5 Ensembl ENCODE dbSUPER 13.2 +22.2 22175 1.6 HDGF ATF1 FOXA2 PKNOX1 ZFP64 SIN3A FEZF1 YY1 SLC30A9 ELK1 LIN7B SNRNP70 PPFIA3 NTF4 CGB7 KCNA7 CCDC155 NUCB1 TULP2 HRC
GH19G049145 1.5 Ensembl ENCODE dbSUPER 12.6 +32.1 32058 1.6 ATF1 ARNT ARID4B SIN3A ZNF121 GLIS2 ZNF143 SP3 REST ZNF592 PPFIA3 PRR12 C19orf73 LIN7B KCNA7 SNRNP70 NTF4 CGB7 CD37 SLC6A16
GH19G049207 1.6 FANTOM5 Ensembl ENCODE 11.5 +94.0 94008 1.4 PKNOX1 ATF1 ARNT ARID4B SIN3A ZNF2 ZNF48 ZNF121 FOS SP5 PPP1R15A CD37 SNRNP70 PPFIA3 C19orf73 LIN7B NTF4 CGB7 SLC6A16 KCNA7
GH19G049148 1.4 ENCODE dbSUPER 12.4 +35.9 35906 4.4 HDGF PKNOX1 CREB3L1 ARNT AGO1 ARID4B SIN3A DMAP1 ZNF2 YY1 PPFIA3 PRR12 C19orf73 LIN7B HRC
GH19G049113 1.1 ENCODE 13.3 +0.2 156 2.2 HDGF PKNOX1 CREB3L1 ARNT ARID4B SIN3A DMAP1 ZBTB7B SLC30A9 ZNF766 ADM5 CGB8 LIN7B SNRNP70 NTF4 CGB7 KCNA7 PIH1D1 GRWD1 SNORD35A
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LIN7B on UCSC Golden Path with GeneCards custom track

Promoters for LIN7B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000110839 476 1201 HDGF CREB3L1 ARNT ARID4B SIN3A DMAP1 ZBTB7B SLC30A9 ZNF766 ZNF143

Genomic Location for LIN7B Gene

Chromosome:
19
Start:
49,114,324 bp from pter
End:
49,118,460 bp from pter
Size:
4,137 bases
Orientation:
Plus strand

Genomic View for LIN7B Gene

Genes around LIN7B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LIN7B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LIN7B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LIN7B Gene

Proteins for LIN7B Gene

  • Protein details for LIN7B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HAP6-LIN7B_HUMAN
    Recommended name:
    Protein lin-7 homolog B
    Protein Accession:
    Q9HAP6

    Protein attributes for LIN7B Gene

    Size:
    207 amino acids
    Molecular mass:
    22896 Da
    Quaternary structure:
    • Forms two exclusive ternary complexes with CASK and APBA1 or CASKIN1. Can also interact with other modular proteins containing protein-protein interaction domains like MPP5, MPP6, MPP7, DLG1, DLG2 and DLG3 through its L27 domain. Interacts with DLG4 and GRIN2B as well as CDH1 and CTNNB1, the channels KCNJ12/Kir2.2, KCNJ4/Kir2.3 and probably KCNJ2/Kir2.1 and SLC6A12/BGT-1 via its PDZ domain. The association of LIN7A with cadherin and beta-catenin is calcium-dependent, occurs at synaptic junctions and requires the actin cytoskeleton. Interacts with EGFR, ERBB2, ERBB3 and ERBB4 with both PDZ and KID domains. Associates with KIF17 via APBA1 (By similarity). Interacts with ASIC3. Interacts with TOPK. Interacts with RTKN.

    Three dimensional structures from OCA and Proteopedia for LIN7B Gene

    Alternative splice isoforms for LIN7B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LIN7B Gene

Post-translational modifications for LIN7B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for LIN7B Gene

No data available for DME Specific Peptides for LIN7B Gene

Domains & Families for LIN7B Gene

Gene Families for LIN7B Gene

Protein Domains for LIN7B Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for LIN7B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9HAP6

UniProtKB/Swiss-Prot:

LIN7B_HUMAN :
  • The kinase interacting site is required for proper delivery of ERBB2 to the basolateral membrane.
  • Belongs to the lin-7 family.
Domain:
  • The kinase interacting site is required for proper delivery of ERBB2 to the basolateral membrane.
  • The PDZ domain regulates endocytosis and recycling of the receptor at the membrane.
  • The L27 domain mediates interaction with CASK and is involved in the formation of multimeric complexes and the association of LIN7 to membranes.
Family:
  • Belongs to the lin-7 family.
genes like me logo Genes that share domains with LIN7B: view

Function for LIN7B Gene

Molecular function for LIN7B Gene

UniProtKB/Swiss-Prot Function:
Plays a role in establishing and maintaining the asymmetric distribution of channels and receptors at the plasma membrane of polarized cells. Forms membrane-associated multiprotein complexes that may regulate delivery and recycling of proteins to the correct membrane domains. The tripartite complex composed of LIN7 (LIN7A, LIN7B or LIN7C), CASK and APBA1 may have the potential to couple synaptic vesicle exocytosis to cell adhesion in brain. Ensures the proper localization of GRIN2B (subunit 2B of the NMDA receptor) to neuronal postsynaptic density and may function in localizing synaptic vesicles at synapses where it is recruited by beta-catenin and cadherin. Required to localize Kir2 channels, GABA transporter (SLC6A12) and EGFR/ERBB1, ERBB2, ERBB3 and ERBB4 to the basolateral membrane of epithelial cells. May increase the amplitude of ASIC3 acid-evoked currents by stabilizing the channel at the cell surface (By similarity).

Gene Ontology (GO) - Molecular Function for LIN7B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019904 protein domain specific binding IPI 17237226
GO:0030165 PDZ domain binding IEA --
genes like me logo Genes that share ontologies with LIN7B: view
genes like me logo Genes that share phenotypes with LIN7B: view

Animal Models for LIN7B Gene

MGI Knock Outs for LIN7B:

Animal Model Products

CRISPR Products

miRNA for LIN7B Gene

miRTarBase miRNAs that target LIN7B

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for LIN7B Gene

Localization for LIN7B Gene

Subcellular locations from UniProtKB/Swiss-Prot for LIN7B Gene

Cell membrane; Peripheral membrane protein. Basolateral cell membrane; Peripheral membrane protein. Cell junction. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density; Peripheral membrane protein. Cell junction, tight junction. Cell junction, synapse, synaptosome. Note=Enriched in synaptosomes and at epithelial cell-cell junctions (By similarity). Mainly basolateral in renal epithelial cells. {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 LIN7B gene
Compartment Confidence
plasma membrane 5
cytosol 3

Gene Ontology (GO) - Cellular Components for LIN7B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005911 cell-cell junction IBA,IEA --
GO:0005923 bicellular tight junction IEA --
GO:0014069 postsynaptic density IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with LIN7B: view

Pathways & Interactions for LIN7B Gene

genes like me logo Genes that share pathways with LIN7B: view

Gene Ontology (GO) - Biological Process for LIN7B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006887 exocytosis IEA --
GO:0007269 neurotransmitter secretion TAS --
GO:0015031 protein transport IEA --
GO:0045199 maintenance of epithelial cell apical/basal polarity IBA --
genes like me logo Genes that share ontologies with LIN7B: view

No data available for SIGNOR curated interactions for LIN7B Gene

Drugs & Compounds for LIN7B Gene

(1) Drugs for LIN7B Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with LIN7B: view

Transcripts for LIN7B Gene

mRNA/cDNA for LIN7B Gene

(4) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(4) Selected AceView cDNA sequences:
(7) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for LIN7B Gene

Lin-7 homolog B (C. elegans):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for LIN7B Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7
SP1: - - - - -
SP2: - -
SP3: - -
SP4: -
SP5:

Relevant External Links for LIN7B Gene

GeneLoc Exon Structure for
LIN7B
ECgene alternative splicing isoforms for
LIN7B

Expression for LIN7B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LIN7B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for LIN7B Gene

This gene is overexpressed in Brain (36.1), Fetal ovary (18.2), and Testis (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for LIN7B Gene



Protein tissue co-expression partners for LIN7B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of LIN7B Gene:

LIN7B

SOURCE GeneReport for Unigene cluster for LIN7B Gene:

Hs.221737

Evidence on tissue expression from TISSUES for LIN7B Gene

  • Nervous system(4.4)
  • Kidney(4.2)
genes like me logo Genes that share expression patterns with LIN7B: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for LIN7B Gene

Orthologs for LIN7B Gene

This gene was present in the common ancestor of animals.

Orthologs for LIN7B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LIN7B 35
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LIN7B 34 35
  • 92.11 (n)
cow
(Bos Taurus)
Mammalia LIN7B 34 35
  • 91.71 (n)
rat
(Rattus norvegicus)
Mammalia Lin7b 34
  • 87.6 (n)
mouse
(Mus musculus)
Mammalia Lin7b 34 16 35
  • 87.44 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 68 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia LIN7B 35
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lin7b 34
  • 76.33 (n)
zebrafish
(Danio rerio)
Actinopterygii lin7b 34 35
  • 74.72 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.824 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005858 34
  • 70.39 (n)
fruit fly
(Drosophila melanogaster)
Insecta veli 34 35
  • 67.18 (n)
worm
(Caenorhabditis elegans)
Secernentea lin-7 34 35
  • 60.71 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10352 35
  • 75 (a)
OneToMany
Species where no ortholog for LIN7B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)

Evolution for LIN7B Gene

ENSEMBL:
Gene Tree for LIN7B (if available)
TreeFam:
Gene Tree for LIN7B (if available)

Paralogs for LIN7B Gene

Paralogs for LIN7B Gene

(9) SIMAP similar genes for LIN7B Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with LIN7B: view

Variants for LIN7B Gene

Sequence variations from dbSNP and Humsavar for LIN7B Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs1000029134 -- 49,118,920(+) GGGTG(C/G)AGAAT intron-variant, downstream-variant-500B, upstream-variant-2KB, reference, missense
rs1000095052 -- 49,114,286(+) AGCTG(A/G)GCGCT upstream-variant-2KB
rs1000139660 -- 49,116,985(+) TCACA(C/T)CTGTA intron-variant
rs1001098124 -- 49,112,942(+) CAGCA(C/T)TTTGG upstream-variant-2KB
rs1001434132 -- 49,113,408(+) GCCCC(A/G)CTGCT upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for LIN7B Gene

Variant ID Type Subtype PubMed ID
dgv3619n100 CNV gain 25217958
dgv3620n100 CNV gain 25217958
dgv3621n100 CNV gain 25217958
esv1011024 CNV deletion 20482838
esv2760526 CNV gain 21179565
nsv1060108 CNV gain 25217958
nsv833857 CNV loss 17160897
nsv833859 CNV loss 17160897
nsv9739 CNV gain+loss 18304495

Variation tolerance for LIN7B Gene

Residual Variation Intolerance Score: 42.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.35; 7.68% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LIN7B Gene

Human Gene Mutation Database (HGMD)
LIN7B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LIN7B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LIN7B Gene

Disorders for LIN7B Gene

MalaCards: The human disease database

(1) MalaCards diseases for LIN7B Gene - From: DISEASES

Disorder Aliases PubMed IDs
retinitis pigmentosa 24
  • rp24
- elite association - COSMIC cancer census association via MalaCards
Search LIN7B in MalaCards View complete list of genes associated with diseases

Relevant External Links for LIN7B

Genetic Association Database (GAD)
LIN7B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LIN7B
genes like me logo Genes that share disorders with LIN7B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LIN7B Gene

Publications for LIN7B Gene

  1. Identification of a cell polarity-related protein, Lin-7B, as a binding partner for a Rho effector, Rhotekin, and their possible interaction in neurons. (PMID: 16979770) Sudo K. … Nagata K. (Neurosci. Res. 2006) 3 4 22 64
  2. The stardust family protein MPP7 forms a tripartite complex with LIN7 and DLG1 that regulates the stability and localization of DLG1 to cell junctions. (PMID: 17237226) Bohl J. … Vande Pol S.B. (J. Biol. Chem. 2007) 3 4 64
  3. PSD-95 and Lin-7b interact with acid-sensing ion channel-3 and have opposite effects on H+- gated current. (PMID: 15317815) Hruska-Hageman A.M. … Welsh M.J. (J. Biol. Chem. 2004) 3 4 64
  4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 3 4 64
  5. Basolateral membrane expression of the Kir 2.3 channel is coordinated by PDZ interaction with Lin-7/CASK complex. (PMID: 11742811) Olsen O. … Welling P.A. (Am. J. Physiol. 2002) 3 4 64

Products for LIN7B Gene

Sources for LIN7B Gene

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