Egflam
Gene Detail

Symbol

Name
ID

Egflam
EGF-like, fibronectin type III and laminin G domains
MGI:2146149

Synonyms

nectican, pikachurin

Feature Type

protein coding gene

Genetic Map

Chromosome 15
3.50 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)

Sequence Map

Chr15:7206120-7398395 bp, - strand From VEGA annotation of GRCm38   192276 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate
homology

HomoloGene:65044  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog

Gene Tree: Egflam

Human
homologs

Human Homolog		EGFLAM, EGF-like, fibronectin type III and laminin G domains
NCBI Gene ID		133584
neXtProt AC		NX_Q63HQ2
Human Synonyms		AGRINL, AGRNL, PIKA
Human Chr (Location)		5p13.2-p13.1; chr5:38258409-38465480 (+)  GRCh38

Mutations,
alleles, and
phenotypes

All mutations/alleles(4) : Targeted(3) Transposon induced(1)
Genomic Mutations involving Egflam (1)
Incidental mutations (data from Mutagenetix , APF )
 

Homozygous null mutants are viable and fertile under normal conditions. They exhibit abnormal photoreceptor ribbon synapses, resulting in alteration in synaptic signal transmission and visual function.

 

Interactions

Egflam interacts with 364 markers (Mir1a-1, Mir1a-2, Mir1b, ...)

View All

Gene Ontology
(GO)
classifications

All GO classifications: (11 annotations)

Process	extracellular matrix organization, peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan, ...
Component	basement membrane, cell junction, ...
Function	glycosaminoglycan binding, protein binding

External Resources: FuncBase

Expression

Literature Summary: (2 records)

Data Summary: Results (5)    Tissues (5)    Images (4)    Tissue x Stage Matrix (view)

Assay Type	Results
Immunohistochemistry	5

cDNA source data(43)
External Resources: Allen Institute   GEO   Expression Atlas

Molecular
reagents

All nucleic(43) cDNA(43)
Microarray probesets(3)

Other database
links

VEGA Gene Model	OTTMUSG00000029264 (Evidence)
Ensembl Gene Model	ENSMUSG00000042961 (Evidence)
Entrez Gene	268780 (Evidence)
UniGene	203208
DFCI	TC1577708, TC1595295
DoTS	DT.97359338, DT.91442997, DT.524479, DT.91316411
NIA Mouse Gene Index	U035988
Consensus CDS Project	CCDS27370.1
International Mouse Knockout Project Status	Egflam

Sequences

Length	Strain/Species
genomic	OTTMUSG00000029264	VEGA Gene Model | MGI Sequence Detail	192276	C57BL/6J
transcript	OTTMUST00000072508	VEGA | MGI Sequence Detail	4391	Not Applicable
polypeptide	OTTMUSP00000037355	VEGA | MGI Sequence Detail	1017	Not Applicable

All sequences(58) RefSeq(10) UniProt(3)

Polymorphisms

SNPs within 2kb(898 from dbSNP Build 137)    SNPs within 2kb including multiple locations(908)

Protein-related
information

Resource	ID	Description
InterPro	IPR013320	Concanavalin A-like lectin/glucanase, subgroup
InterPro	IPR013032	EGF-like, conserved site
InterPro	IPR000742	Epidermal growth factor-like domain
InterPro	IPR003961	Fibronectin, type III
InterPro	IPR013783	Immunoglobulin-like fold
InterPro	IPR001791	Laminin G domain
Protein Ontology	PR:000006932	pikachurin

References

(Earliest) J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
(Latest) J:184863 Omori Y, et al., Presynaptic dystroglycan-pikachurin complex regulates the proper synaptic connection between retinal photoreceptor and bipolar cells. J Neurosci. 2012 May 2;32(18):6126-37
All references(29)