Aliases for EGFLAM Gene

Aliases for EGFLAM Gene

  • EGF Like, Fibronectin Type III And Laminin G Domains 2 3 5
  • Pikachurin 2 3 4
  • AGRINL 2 3 4
  • AGRNL 2 3 4
  • PIKA 2 3 4
  • EGF-Like, Fibronectin Type-III And Laminin G-Like Domain-Containing Protein 3 4
  • Agrin-Like Protein 3 4
  • EGF-Like, Fibronectin Type III And Laminin G Domains 2
  • Agrin-Like 2
  • FLJ39155 2
  • EGFLAM 5

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 and Congenital Muscular Dystrophy-Dystroglycanopathy Type A5. Gene Ontology (GO) annotations related to this gene include calcium ion binding and glycosaminoglycan binding. An important paralog of this gene is HSPG2.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for EGFLAM Gene

Genomics for EGFLAM Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for EGFLAM Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J038258 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +0.5 491 2.2 PRDM10 ZNF692 PRDM1 ZIC2 PATZ1 CTCF ZNF501 EZH2 ZNF600 ZNF341 EGFLAM lnc-LIFR-9 WDR70 RICTOR EGFLAM-AS4 LIFR
GH05J038445 Promoter/Enhancer 1.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 607.9 +187.6 187624 1.9 PKNOX1 ZNF600 KLF9 ZFHX2 ZNF366 KLF10 EGR2 GLIS2 EGFLAM lnc-LIFR-7 LOC105374732 ENSG00000251257 LIFR
GH05J038403 Promoter/Enhancer 0.6 EPDnew Ensembl 600.1 +145.4 145392 0.8 JUND EGFLAM-AS2 EGFLAM RF00017-4588 LIFR
GH05J038462 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 15.5 +208.3 208273 8.3 HNRNPL GATAD2A ATF7 TFE3 PRDM1 RXRB POLR2A REST SP1 ZNF239 ENSG00000251257 EGFLAM EGFLAM-AS1 ENSG00000248234 EGFLAM-AS2 LOC105374732 LIFR
GH05J038552 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 10.1 +297.0 296986 5.3 CEBPG PRDM10 ZNF629 ZNF692 FOXA1 PRDM1 MTA2 ZIC2 ZSCAN4 RBFOX2 LIFR LIFR-AS1 ENSG00000251257 EGFLAM-AS1 ENSG00000248234 EGFLAM-AS2 EGFLAM MIR3650 lnc-RICTOR-6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EGFLAM on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EGFLAM

Top Transcription factor binding sites by QIAGEN in the EGFLAM gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • Evi-1
  • FOXL1
  • POU2F1
  • POU2F1a

Genomic Locations for EGFLAM Gene

Genomic Locations for EGFLAM Gene
chr5:38,258,409-38,465,480
(GRCh38/hg38)
Size:
207,072 bases
Orientation:
Plus strand
chr5:38,258,511-38,465,582
(GRCh37/hg19)
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 Asn47
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for EGFLAM Gene

Domains & Families for EGFLAM Gene

Gene Families for EGFLAM Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for EGFLAM Gene

InterPro:
Blocks:
  • Type I EGF
  • EGF-like calcium-binding
  • Laminin G
  • Laminin G, subdomain 1
ProtoNet:

Suggested Antigen Peptide Sequences for EGFLAM Gene

GenScript: Design optimal peptide antigens:
  • EGF-like, fibronectin type-III and laminin G-like domain-containing protein (EGFLA_HUMAN)
genes like me logo Genes that share domains with EGFLAM: view

No data available for Graphical View of Domain Structure and 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).

Phenotypes From GWAS Catalog for EGFLAM Gene

Gene Ontology (GO) - Molecular Function for EGFLAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein 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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EGFLAM

Clone 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, synaptic cleft. Cell junction, synapse, presynaptic active zone. 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 3
cytoskeleton 2
mitochondrion 2
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 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:0005604 basement membrane IBA 21873635
GO:0005614 interstitial matrix IEA --
GO:0009986 cell surface IMP --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with EGFLAM: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for EGFLAM Gene

Pathways & Interactions for EGFLAM Gene

PathCards logo

SuperPathways for EGFLAM Gene

No Data Available

Gene Ontology (GO) - Biological Process for EGFLAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008045 motor neuron axon guidance IBA --
GO:0009887 animal organ morphogenesis IBA 21873635
GO:0009888 tissue development IBA 21873635
GO:0010811 positive regulation of cell-substrate adhesion IEA --
GO:0016358 dendrite development IBA --
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

mRNA/cDNA for EGFLAM Gene

5 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EGFLAM

Clone 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

Expression for EGFLAM Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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 and MOPED for EGFLAM Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EGFLAM

SOURCE GeneReport for Unigene cluster for EGFLAM Gene:

Hs.20103

Evidence on tissue expression from TISSUES for EGFLAM Gene

  • Eye(4.5)
  • Nervous system(4.5)
  • Kidney(4.3)
  • Spleen(4.3)
  • Lung(4.3)
  • Muscle(2.3)
  • Skin(2)
genes like me logo Genes that share expression patterns with EGFLAM: view

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 30 31
  • 99.48 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia EGFLAM 30 31
  • 88.96 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia EGFLAM 30 31
  • 88.22 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Egflam 30
  • 85.67 (n)
Mouse
(Mus musculus)
Mammalia Egflam 30 17 31
  • 85.25 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia EGFLAM 31
  • 78 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia EGFLAM 31
  • 69 (a)
OneToOne
Chicken
(Gallus gallus)
Aves EGFLAM 30 31
  • 74.46 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia EGFLAM 31
  • 76 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia egflam 30
  • 68.59 (n)
Str.9742 30
Zebrafish
(Danio rerio)
Actinopterygii EGFLAM 31
  • 56 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta SP2353 30 31
  • 47.69 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea T19D12.6 30
  • 40.59 (n)
Species where no ortholog for EGFLAM was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for EGFLAM: view image

Paralogs for EGFLAM Gene

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

  • EGFLA_HUMAN
  • D6RG24_HUMAN
  • D6RJD2_HUMAN
genes like me logo Genes that share paralogs with EGFLAM: view

Variants for EGFLAM Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EGFLAM Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
787812 Benign: not provided 38,458,362(+) C/T SYNONYMOUS_VARIANT
rs150754556 Uncertain Significance: Severe Myopia 38,412,514(+) G/A MISSENSE_VARIANT
rs12522205 - p.Arg26Pro
rs1465567 - p.Trp229Arg
rs16903965 - p.Thr473Met

Additional dbSNP identifiers (rs#s) for EGFLAM Gene

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)

Additional Variant Information 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

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

Disorder Aliases PubMed IDs
adiaspiromycosis
congenital muscular dystrophy-dystroglycanopathy type a5
  • mddga5
yaws
  • bouba
congenital muscular dystrophy-dystroglycanopathy type a
  • congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
usher syndrome, type iid
  • ush2d
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for 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 DE … van den Oord EJ (Translational psychiatry 2012) 2 3
  2. [Model of aberrant DNA methylation patterns and its applications in epithelial ovarian cancer.]. (PMID: 20078962) Gu XH … Guo SW (Zhonghua fu chan ke za zhi 2009) 2 3
  3. Pikachurin, a dystroglycan ligand, is essential for photoreceptor ribbon synapse formation. (PMID: 18641643) Sato S … Furukawa T (Nature neuroscience 2008) 2 3
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. EGFLAM correlates with cell proliferation, migration, invasion and poor prognosis in glioblastoma. (PMID: 30829611) Chen J … Zhou Y (Cancer biomarkers : section A of Disease markers 2019) 3

Products for EGFLAM Gene

  • Signalway ELISA kits for EGFLAM
  • Signalway Proteins for EGFLAM

Sources for EGFLAM Gene