EGFLAM (EGF like, fibronectin type III and laminin G domains)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
133584
Gene name Gene Name - the full gene name approved by the HGNC.
EGF like, fibronectin type III and laminin G domains
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EGFLAM
Synonyms (NCBI Gene) Gene synonyms aliases
AGRINL, AGRNL, PIKA
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5p13.2-p13.1
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(220)
miRTarBase ID miRNA Experiments Reference
MIRT017183 hsa-miR-335-5p Microarray 18185580
MIRT620178 hsa-miR-7110-3p HITS-CLIP 23824327
MIRT620177 hsa-miR-6817-3p HITS-CLIP 23824327
MIRT620176 hsa-miR-130b-5p HITS-CLIP 23824327
MIRT620175 hsa-miR-4320 HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(14)
GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 30282023
GO:0005539 Function Glycosaminoglycan binding IEA
GO:0005576 Component Extracellular region IEA
GO:0005604 Component Basement membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
617683 26810 ENSG00000164318
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q63HQ2
Protein name Pikachurin (Agrin-like protein) (EGF-like, fibronectin type-III and laminin G-like domain-containing protein)
Protein function Involved in both the retinal photoreceptor ribbon synapse formation and physiological functions of visual perception. Plays a key role in the synaptic organization of photoreceptors by mediating transsynaptic interaction between alpha-dystroglyc
PDB 7ZC9 , 7ZCB , 8D1B
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00041 fn3 36 → 126 Fibronectin type III domain Domain
PF00041 fn3 143 → 228 Fibronectin type III domain Domain
PF00054 Laminin_G_1 415 → 546 Laminin G domain Domain
PF00008 EGF 564 → 600 EGF-like domain Domain
PF00054 Laminin_G_1 641 → 770 Laminin G domain Domain
PF00008 EGF 788 → 818 EGF-like domain Domain
PF02210 Laminin_G_2 868 → 996 Laminin G domain Domain
Sequence 
MDLIRGVLLRLLLLASSLGPGAVSLRAAIRKPGKVGPPLDIKLGALNCTAFSIQWKMPRH
PGSPILGYTVFYSEVGADKSLQEQLHSVPLSRDIPTTEEVIGDLKPGTEYRVSIAAYSQA
GKGRLSSPRHVTTLSQDSCLPPAAPQQPHVIVVSDSEVALSWKPGASEGSAPIQYYSVEF
IRPDFDKKWTSIHERIQMDSMVIKGLDPDTNYQFAVRAMNSHGPSPRSWPSDIIRTLCPE
EAGSGRYGPRYITDMGAGEDDEGFEDDLDLDISFEEVKPLPATKGGNKKFLVESKKMSIS
NPKTISRLIPPTSASLPVTTVAPQPIPIQRKGKNGVAIMSRLFDMPCDETLCSADSFCVN
DYTWGGSRCQCTLGKGGESCSEDIVIQYPQFFGHSYVTFEPLKNSYQAFQITLEFRAEAE
DGLLLYCGENEHGRGDFMSLAIIRRSLQFRFNCGTGVAIIVSETKIKLGGWHTVMLYRDG
LNGLLQLNNGTPVTGQSQGQYSKITFRTPLYLGGAPSAYWLVRATGTNRGFQGCVQSLAV
NGRRIDMRPWPLGKALSGADVGECSSGICDEASCIHGGTCTAIKADSYICLCPLGFKGRH
CEDAFTLTIPQFRESLRSYAATPWPLEPQHYLSFMEFEITFRPDSGDGVLLYSYDTGSKD
FLSINLAGGHVEFRFDCGSGTGVLRSEDPLTLGNWHELRVSRTAKNGILQVDKQKIVEGM
AEGGFTQIKCNTDIFIGGVPNYDDVKKNSGVLKPFSGSIQKIILNDRTIHVKHDFTSGVN
VENAAHPCVRAPCAHGGSCRPRKEGYDCDCPLGFEGLHCQKECGNYCLNTIIEAIEIPQF
IGRSYLTYDNPDILKRVSGSRSNVFMRFKTTAKDGLLLWRGDSPMRPNSDFISLGLRDGA
LVFSYNLGSGVASIMVNGSFNDGRWHRVKAVRDGQSGKITVDDYGARTGKSPGMMRQLNI
NGALYVGGMKEIALHTNRQYMRGLVGCISHFTLSTDYHISLVEDAVDGKNINTCGAK
Sequence length 1017
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (4)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alopecia Areata Alopecia areata N/A N/A GWAS
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Glioblastoma Glioblastoma N/A N/A GWAS
Oligodendroglioma Oligodendroglioma N/A N/A GWAS
Show/Hide Text Mining Associations (7)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Aortic Aneurysm Associate 28339009
Ectodermal Dysplasia Anhidrotic with Immunodeficiency Osteopetrosis and Lymphedema Associate 27255271
Glioblastoma Associate 30829611
Leiomyoma Associate 35641855
Neoplasms Associate 30829611
Oropharyngeal Neoplasms Associate 35459784
Xerostomia Associate 35459784