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Aliases for EGFLAM Gene

Aliases for EGFLAM Gene

  • EGF Like, Fibronectin Type III And Laminin G Domains 2 3 5
  • EGF-Like, Fibronectin Type-III And Laminin G-Like Domain-Containing Protein 3 4
  • Agrin-Like Protein 3 4
  • Pikachurin 2 3
  • AGRINL 3 4
  • AGRNL 3 4
  • EGF-Like, Fibronectin Type III And Laminin G Domains 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. Diseases associated with EGFLAM include Adiaspiromycosis. 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 , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EGFLAM Gene

Genomics for EGFLAM Gene

Regulatory Elements for EGFLAM Gene

Enhancers for EGFLAM 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
GH05G038462 1.8 FANTOM5 Ensembl ENCODE dbSUPER 15.5 +208.3 208273 8.3 ATF1 FOXA2 MLX SIN3A FEZF1 BRCA1 GATA2 FOS DEK TSHZ1 EGFLAM EGFLAM-AS1 ENSG00000248234 EGFLAM-AS2 LOC105374732
GH05G038806 1.6 Ensembl ENCODE dbSUPER 10.1 +550.3 550253 4.6 PKNOX1 SIN3A FEZF1 ZNF2 ZNF766 ZNF302 CBX5 ZNF143 ZNF548 FOS RICTOR ENSG00000248234 EGFLAM-AS1 EGFLAM-AS2 EGFLAM LINC02110 LOC105374733 ENSG00000250629
GH05G038555 1.1 ENCODE 10.1 +298.4 298426 2.4 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF263 SP3 REST SMARCB1 LIFR LOC105374732 EGFLAM-AS1 ENSG00000248234 EGFLAM-AS2 EGFLAM LIFR-AS1 MIR3650
GH05G038432 1 Ensembl ENCODE dbSUPER 10.9 +175.9 175881 3.0 CTCF JUN NR2F2 EGFLAM-AS2 EGFLAM LOC105374732 ENSG00000248234
GH05G038445 1.3 FANTOM5 ENCODE dbSUPER 7.9 +187.5 187529 1.7 PKNOX1 ZFHX2 GLIS2 ZNF366 PBX2 KLF9 ZNF600 FOXP2 EGR2 EGFLAM ENSG00000248234 LOC105374732
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EGFLAM on UCSC Golden Path with GeneCards custom track

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

Genes around EGFLAM on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EGFLAM Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for EGFLAM Gene

  • O-glycosylated; contains chondroitin sulfate and heparan sulfate.
  • Glycosylation at isoforms=247
  • Modification sites at PhosphoSitePlus

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

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

No data available for UniProtKB/Swiss-Prot for EGFLAM Gene

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 IEA --
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

  • Taconic Biosciences Mouse Models for EGFLAM

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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. {ECO:0000250 UniProtKB:Q4VBE4}.

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 EGFLAM gene
Compartment Confidence
extracellular 4
plasma membrane 2
mitochondrion 2
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for EGFLAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005604 basement membrane IEA --
GO:0005614 interstitial matrix IEA --
GO:0009986 cell surface IMP --
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:

CRISPR Products

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



NURSA nuclear receptor signaling pathways regulating expression of EGFLAM Gene:

EGFLAM

SOURCE GeneReport for Unigene cluster for EGFLAM Gene:

Hs.20103

Evidence on tissue expression from TISSUES for EGFLAM Gene

  • Eye(4.3)
  • Lung(4.3)
  • Nervous system(4.3)
  • Spleen(4.2)
  • Kidney(4.1)
genes like me logo Genes that share expression patterns with EGFLAM: view

Primer Products

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia EGFLAM 34 35
  • 99.48 (n)
cow
(Bos Taurus)
Mammalia EGFLAM 34 35
  • 88.96 (n)
dog
(Canis familiaris)
Mammalia EGFLAM 34 35
  • 88.22 (n)
rat
(Rattus norvegicus)
Mammalia Egflam 34
  • 85.67 (n)
mouse
(Mus musculus)
Mammalia Egflam 34 16 35
  • 85.25 (n)
oppossum
(Monodelphis domestica)
Mammalia EGFLAM 35
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EGFLAM 35
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves EGFLAM 34 35
  • 74.46 (n)
lizard
(Anolis carolinensis)
Reptilia EGFLAM 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia egflam 34
  • 68.59 (n)
Str.9742 34
zebrafish
(Danio rerio)
Actinopterygii EGFLAM 35
  • 56 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta SP2353 34 35
  • 47.69 (n)
worm
(Caenorhabditis elegans)
Secernentea T19D12.6 34
  • 40.59 (n)
Species where no ortholog for EGFLAM 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)

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
rs1000031020 -- 38,354,703(+) CTAGC(C/T)TGGAG intron-variant
rs1000040573 -- 38,369,994(+) TCCTT(C/G)AAAGC intron-variant
rs1000058290 -- 38,296,743(+) ATTTT(A/G)TAATT intron-variant
rs1000076544 -- 38,415,839(+) TTTAT(A/G)TGGCA intron-variant
rs1000078375 -- 38,342,926(+) CATCT(C/G)AGTGG intron-variant

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

Variant ID Type Subtype PubMed ID
esv3304631 CNV mobile element insertion 20981092
esv3309748 CNV mobile element insertion 20981092
esv3373540 CNV insertion 20981092
esv3447578 CNV insertion 20981092
esv3570079 CNV loss 25503493
esv3570080 CNV loss 25503493
esv3604761 CNV gain 21293372
esv3604766 CNV gain 21293372
esv3604767 CNV loss 21293372
esv3604768 CNV gain 21293372
nsv1123941 CNV deletion 24896259
nsv4797 CNV insertion 18451855
nsv4798 CNV insertion 18451855
nsv4800 CNV deletion 18451855
nsv515705 CNV gain+loss 19592680
nsv518853 CNV gain 19592680

Variation tolerance for EGFLAM Gene

Residual Variation Intolerance Score: 92.2% 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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EGFLAM

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

Disorders for EGFLAM Gene

MalaCards: The human disease database

(1) MalaCards diseases for EGFLAM Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
adiaspiromycosis
- elite association - COSMIC cancer census association via MalaCards

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 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 3 64
  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 3 64
  3. Pikachurin, a dystroglycan ligand, is essential for photoreceptor ribbon synapse formation. (PMID: 18641643) Sato S. … Furukawa T. (Nat. Neurosci. 2008) 2 3 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  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) 3 64

Products for EGFLAM Gene

Sources for EGFLAM Gene

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