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

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
617683 26810 ENSG00000164318
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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
GKGRLSSPRHVTTLSQDSCLPPAAPQQPHVIVVSDSEVALSWKPGASEGSAPIQYYSVEF
IRPDFDKKWTSIHERIQMDSMVIKGLDPDTNYQFAVRAMNSHGPSPRSWPSDIIRTLCPE
EAGSGRYGPRYITDMGAGEDDEGFEDDLDLDISFEEVKPLPATKGGNKKFLVESKKMSIS
NPKTISRLIPPTSASLPVTTVAPQPIPIQRKGKNGVAIMSRLFDMPCDETLCSADSFCVN
DYTWGGSRCQCTLGKGGESCSEDIVIQYPQFFGHSYVTFEPLKNSYQAFQITLEFRAEAE
DGLLLYCGENEHGRGDFMSLAIIRRSLQFRFNCGTGVAIIVSETKIKLGGWHTVMLYRDG
LNGLLQLNNGTPVTGQSQGQYSKITFRTPLYLGGAPSAYWLVRATGTNRGFQGCVQSLAV
NGRRIDMRPWPLGKALSGADVGECSSGICDEASCIHGGTCTAIKADSYICLCPLGFKGRH
CEDAFTLTIPQFRESLRSYAATPWPLEPQHYLSFMEFEITFRPDSGDGVLLYSYDTGSKD
FLSINLAGGHVEFRFDCGSGTGVLRSEDPLTLGNWHELRVSRTAKNGILQVDKQKIVEGM
AEGGFTQIKCNTDIFIGGVPNYDDVKKNSGVLKPFSGSIQKIILNDRTIHVKHDFTSGVN
VENAAHPCVRAPCAHGGSCRPRKEGYDCDCPLGFEGLHCQKECGNYCLNTIIEAIEIPQF
IGRSYLTYDNPDILKRVSGSRSNVFMRFKTTAKDGLLLWRGDSPMRPNSDFISLGLRDGA
LVFSYNLGSGVASIMVNGSFNDGRWHRVKAVRDGQSGKITVDDYGARTGKSPGMMRQLNI
NGALYVGGMKEIALHTNRQYMRGLVGCISHFTLSTDYHISLVEDAVDGKNINTCGAK
Sequence length 1017
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
3
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
High myopia Uncertain significance rs150754556 RCV000785718
Lung cancer Uncertain significance rs202035735 RCV005929069
Nonpapillary renal cell carcinoma Likely benign rs148290116 RCV005927391
Show/Hide Text Mining Associations (7)
Associations from Text MiningDisease 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