Gene Gene information from NCBI Gene database.
Entrez ID 133584
Gene name EGF like, fibronectin type III and laminin G domains
Gene symbol EGFLAM
Synonyms (NCBI Gene)
AGRINLAGRNLPIKA
Chromosome 5
Chromosome location 5p13.2-p13.1
miRNA miRNA information provided by mirtarbase database.
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617683 26810 ENSG00000164318
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
GKGRLS
SPRHVTTLSQDSCLPPAAPQQPHVIVVSDSEVALSWKPGASEGSAPIQYYSVEF
IRPDFDKKWTSIHERIQMDSMVIKGLDPDTNYQFAVRAMNSHGPSPRS
WPSDIIRTLCPE
EAGSGRYGPRYITDMGAGEDDEGFEDDLDLDISFEEVKPLPATKGGNKKFLVESKKMSIS
NPKTISRLIPPTSASLPVTTVAPQPIPIQRKGKNGVAIMSRLFDMPCDETLCSADSFCVN
DYTWGGSRCQCTLGKGGESCSEDIVIQYPQFFGHSYVTFEPLKNSYQAFQITLEFRAEAE
DGLLLYCGENEHGRGDFMSLAIIRRSLQFRFNCGTGVAIIVSETKIKLGGWHTVMLYRDG
LNGLLQLNNGTPVTGQSQGQYSKITFRTPLYLGGAPSAYWLVRATGTNRGFQGCVQSLAV
NGRRID
MRPWPLGKALSGADVGECSSGICDEASCIHGGTCTAIKADSYICLCPLGFKGRH
CEDAFTLTIPQFRESLRSYAATPWPLEPQHYLSFMEFEITFRPDSGDGVLLYSYDTGSKD
FLSINLAGGHVEFRFDCGSGTGVLRSEDPLTLGNWHELRVSRTAKNGILQVDKQKIVEGM
AEGGFTQIKCNTDIFIGGVPNYDDVKKNSGVLKPFSGSIQKIILNDRTIH
VKHDFTSGVN
VENAAHPCVRAPCAHGGSCRPRKEGYDCDCPLGFEGLHCQKECGNYCLNTIIEAIEIPQF
IGRSYLTYDNPDILKRVSGSRSNVFMRFKTTAKDGLLLWRGDSPMRPNSDFISLGLRDGA
LVFSYNLGSGVASIMVNGSFNDGRWHRVKAVRDGQSGKITVDDYGARTGKSPGMMRQLNI
NGALYVGGMKEIALHTNRQYMRGLVGCISHFTLSTD
YHISLVEDAVDGKNINTCGAK
Sequence length 1017
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEMENTIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
High myopia Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Lung cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Aortic Aneurysm Aortic aneurysm Pubtator 28339009 Associate
★☆☆☆☆
Found in Text Mining only
Ectodermal Dysplasia Anhidrotic with Immunodeficiency Osteopetrosis and Lymphedema Anhidrotic ectodermal dysplasia with immunodeficiency, osteopetrosis, and lymphedema Pubtator 27255271 Associate
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma BEFREE 30829611
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma Pubtator 30829611 Associate
★☆☆☆☆
Found in Text Mining only
Glioblastoma Multiforme Glioblastoma BEFREE 30829611
★☆☆☆☆
Found in Text Mining only
Leiomyoma Leiomyoma Pubtator 35641855 Associate
★☆☆☆☆
Found in Text Mining only
Leukoplakia, Oral Leukoplakia BEFREE 27255271
★☆☆☆☆
Found in Text Mining only
Major Depressive Disorder Mental Depression GWASCAT_DG 27622933
★☆☆☆☆
Found in Text Mining only
Mood Disorders Mood Disorder GWASCAT_DG 27622933
★☆☆☆☆
Found in Text Mining only
Muscular Dystrophy Muscular dystrophy BEFREE 20682766
★☆☆☆☆
Found in Text Mining only