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Aliases for EGFLAM Gene

Aliases for EGFLAM Gene

  • EGF-Like, Fibronectin Type III And Laminin G Domains 2 3
  • EGF-Like, Fibronectin Type-III And Laminin G-Like Domain-Containing Protein 3 4
  • Agrin-Like Protein 3 4
  • AGRINL 3 4
  • AGRNL 3 4
  • Pikachurin 2
  • Agrin-Like 2
  • PIKA 3

External Ids for EGFLAM Gene

Summaries for EGFLAM Gene

GeneCards Summary for EGFLAM Gene

EGFLAM (EGF-Like, Fibronectin Type III And Laminin G Domains) is a Protein Coding gene. GO annotations related to this gene include calcium ion binding and glycosaminoglycan binding. An important paralog of this gene is AGRN.

UniProtKB/Swiss-Prot for EGFLAM Gene

  • Involved in both the retinal photoreceptor ribbon synapse formation and physiological functions of visual perception. Necessary for proper bipolar dendritic tip apposition to the photoreceptor ribbon synapse. Promotes matrix assembly and cell adhesiveness (By similarity).

Gene Wiki entry for EGFLAM Gene

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

Genomics for EGFLAM Gene

Regulatory Elements for EGFLAM Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for EGFLAM Gene

Chromosome:
5
Start:
38,258,409 bp from pter
End:
38,465,480 bp from pter
Size:
207,072 bases
Orientation:
Plus strand

Genomic View for EGFLAM Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for EGFLAM Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EGFLAM Gene

Proteins for EGFLAM Gene

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

    Protein Symbol:
    Q63HQ2-EGFLA_HUMAN
    Recommended name:
    Pikachurin
    Protein Accession:
    Q63HQ2
    Secondary Accessions:
    • A8K6D7
    • Q5U643
    • Q6P3V1
    • Q8N124
    • Q8N197
    • Q8N7Y0
    • Q8N8N5
    • Q8NAL2

    Protein attributes for EGFLAM Gene

    Size:
    1017 amino acids
    Molecular mass:
    111271 Da
    Quaternary structure:
    • Interacts with DAG1 alpha-dystroglycan.
    SequenceCaution:
    • Sequence=BAC04800.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice sites.; Evidence={ECO:0000305};

    Alternative splice isoforms for EGFLAM Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EGFLAM Gene

Proteomics data for EGFLAM Gene at MOPED

Post-translational modifications for EGFLAM Gene

  • O-glycosylated; contains chondroitin sulfate and heparan sulfate.
  • Glycosylation at Asn 47
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for EGFLAM

No data available for DME Specific Peptides for EGFLAM Gene

Domains & Families for EGFLAM Gene

Gene Families for EGFLAM Gene

Suggested Antigen Peptide Sequences for EGFLAM Gene

Graphical View of Domain Structure for InterPro Entry

Q63HQ2

UniProtKB/Swiss-Prot:

EGFLA_HUMAN :
  • Contains 3 EGF-like domains.
Domain:
  • Contains 3 EGF-like domains.
  • Contains 2 fibronectin type-III domains.
  • Contains 3 laminin G-like domains.
genes like me logo Genes that share domains with EGFLAM: view

Function for EGFLAM Gene

Molecular function for EGFLAM Gene

UniProtKB/Swiss-Prot Function:
Involved in both the retinal photoreceptor ribbon synapse formation and physiological functions of visual perception. Necessary for proper bipolar dendritic tip apposition to the photoreceptor ribbon synapse. Promotes matrix assembly and cell adhesiveness (By similarity).

Gene Ontology (GO) - Molecular Function for EGFLAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding --
GO:0005515 protein binding --
GO:0005539 glycosaminoglycan binding IEA --
genes like me logo Genes that share ontologies with EGFLAM: view
genes like me logo Genes that share phenotypes with EGFLAM: view

Animal Models for EGFLAM Gene

MGI Knock Outs for EGFLAM:

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for EGFLAM

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for EGFLAM Gene

Localization for EGFLAM Gene

Subcellular locations from UniProtKB/Swiss-Prot for EGFLAM Gene

Secreted, extracellular space, extracellular matrix. Cell junction, synapse. Note=Detected in the synaptic cleft of the ribbon synapse around the postsynaptic terminals of bipolar cells. Colocalizes with BSN, CTBP2 and DAG1 in photoreceptor synaptic terminals (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EGFLAM Gene COMPARTMENTS Subcellular localization image for EGFLAM gene
Compartment Confidence
extracellular 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for EGFLAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005578 proteinaceous extracellular matrix --
GO:0005604 basement membrane IEA --
GO:0005614 interstitial matrix IEA --
GO:0009986 cell surface --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with EGFLAM: view

Pathways & Interactions for EGFLAM Gene

SuperPathways for EGFLAM Gene

No Data Available

Gene Ontology (GO) - Biological Process for EGFLAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010811 positive regulation of cell-substrate adhesion IEA --
GO:0019800 peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan IEA --
GO:0030198 extracellular matrix organization IEA --
genes like me logo Genes that share ontologies with EGFLAM: view

No data available for Pathways by source and SIGNOR curated interactions for EGFLAM Gene

Drugs & Compounds for EGFLAM Gene

No Compound Related Data Available

Transcripts for EGFLAM Gene

Unigene Clusters for EGFLAM Gene

EGF-like, fibronectin type III and laminin G domains:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for EGFLAM

Flow Cytometry Products

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

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20a · 20b ^ 21a · 21b ^
SP1: - - - - - - -
SP2: - - - -
SP3: - - - - - - - - -
SP4: - -
SP5: -
SP6: -
SP7: -

ExUns: 22 ^ 23 ^ 24a · 24b · 24c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for EGFLAM Gene

GeneLoc Exon Structure for
EGFLAM
ECgene alternative splicing isoforms for
EGFLAM

Expression for EGFLAM Gene

mRNA expression in normal human tissues for EGFLAM Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EGFLAM Gene

This gene is overexpressed in Muscle - Skeletal (x6.4).

Protein differential expression in normal tissues from HIPED for EGFLAM Gene

This gene is overexpressed in Heart (26.4), Placenta (12.0), Ovary (10.0), and Retina (6.8).

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



SOURCE GeneReport for Unigene cluster for EGFLAM Gene Hs.20103

genes like me logo Genes that share expression patterns with EGFLAM: view

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for EGFLAM Gene

Orthologs for EGFLAM Gene

This gene was present in the common ancestor of animals.

Orthologs for EGFLAM Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia EGFLAM 35
  • 88.96 (n)
  • 89.8 (a)
EGFLAM 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EGFLAM 35
  • 88.22 (n)
  • 87.68 (a)
EGFLAM 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Egflam 35
  • 85.25 (n)
  • 88.89 (a)
Egflam 16
Egflam 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia EGFLAM 35
  • 99.48 (n)
  • 99.35 (a)
EGFLAM 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Egflam 35
  • 85.67 (n)
  • 89.05 (a)
oppossum
(Monodelphis domestica)
Mammalia EGFLAM 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EGFLAM 36
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves EGFLAM 35
  • 74.46 (n)
  • 75.5 (a)
EGFLAM 36
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EGFLAM 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia egflam 35
  • 68.59 (n)
  • 67.75 (a)
Str.9742 35
zebrafish
(Danio rerio)
Actinopterygii EGFLAM 36
  • 56 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta SP2353 35
  • 47.69 (n)
  • 34.69 (a)
SP2353 36
  • 23 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea T19D12.6 35
  • 40.59 (n)
  • 28.71 (a)
Species with no ortholog for EGFLAM:
  • 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)

Evolution for EGFLAM Gene

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

Paralogs for EGFLAM Gene

Paralogs for EGFLAM Gene

(6) SIMAP similar genes for EGFLAM Gene using alignment to 3 proteins:

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

Variants for EGFLAM Gene

Sequence variations from dbSNP and Humsavar for EGFLAM Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
VAR_055719 -
VAR_055718 -
VAR_035305 -
VAR_035304 -
VAR_035303 -

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

Variant ID Type Subtype PubMed ID
nsv4797 CNV Insertion 18451855
nsv4798 CNV Insertion 18451855
nsv515705 CNV Gain+Loss 19592680
nsv518853 CNV Gain 19592680
nsv4800 CNV Loss 18451855
esv274020 CNV Insertion 20981092
esv268909 CNV Insertion 20981092

Variation tolerance for EGFLAM Gene

Residual Variation Intolerance Score: 92.18% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.18; 93.94% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EGFLAM Gene

HapMap Linkage Disequilibrium report
EGFLAM

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

Disorders for EGFLAM Gene

Relevant External Links for EGFLAM

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

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for EGFLAM Gene

Publications for EGFLAM Gene

  1. Genome-wide pharmacogenomic study of citalopram-induced side effects in STAR*D. (PMID: 22760553) Adkins D.E. … van den Oord E.J. (Transl Psychiatry 2012) 2 67
  2. [Model of aberrant DNA methylation patterns and its applications in epithelial ovarian cancer.]. (PMID: 20078962) Gu X.H. … Guo S.W. (Zhonghua Fu Chan Ke Za Zhi 2009) 2 67
  3. Pikachurin, a dystroglycan ligand, is essential for photoreceptor ribbon synapse formation. (PMID: 18641643) Sato S. … Furukawa T. (Nat. Neurosci. 2008) 2 67
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67
  5. BioID-based Identification of Skp Cullin F-box (SCF)I^-TrCP1/2 E3 Ligase Substrates. (PMID: 25900982) Coyaud E. … Raught B. (Mol. Cell Proteomics 2015) 67

Products for EGFLAM Gene

Sources for EGFLAM Gene

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