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

Egflam Gene Detail

Symbol

Egflam
Name

EGF-like, fibronectin type III and laminin G domains
Synonyms

nectican, pikachurin

Feature Type

protein coding gene
IDs

MGI:2146149
NCBI Gene: 268780
Gene Overview

MyGene.info: EGFLAM

Sequence Map

Chr15:7206120-7398395 bp, - strand
From VEGA annotation of GRCm38

Mouse Genome Browser
Download
Sequence

192276 bp ± kb flank
Genome Browsers

VEGA | Ensembl | UCSC | NCBI

Genetic Map

Chromosome 15, 3.50 cM
Mapping Data

1 experiment

Human Ortholog

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

Vertebrate Orthologs

9

Human Ortholog

EGFLAM, EGF like, fibronectin type III and laminin G domains
Orthology source: HomoloGene, HGNC
Synonyms

AGRINL, AGRNL, PIKA
Links

HGNC:26810

NCBI Gene ID: 133584

neXtProt AC: NX_Q63HQ2

UniProt: Q63HQ2
Chr Location

5p13.2-p13.1; chr5:38258409-38465480 (+) GRCh38.p7

HomoloGene

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

human homology predictions: EGFLAM
Gene Tree

Egflam

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Phenotype Summary

5 phenotypes from 1 allele in 1 genetic background
6 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

4
Targeted

3
Transposon induced

1
Genomic Mutations

1 involving Egflam
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

32 strains or lines available

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.

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All GO Annotations

13
GO References

5

External Resources

FuncBase

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	receptor	receptor binding	RNA binding	transcription	transferase	transporter

Biological Process

nucleic acid-templated transcription	carbohydrate derivative metabolism	cell death	cell differentiation	cell proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

5
Tissues

5
cDNA Data

43
Literature Summary

3

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase egflam

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

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All Sequences

51
RefSeq

12
UniProt

2
CCDS

CCDS27370.1, CCDS79359.1
UniGene

203208

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

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SNPs within 2kb

899 from dbSNP Build 142

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UniProt

2 Sequences
Protein Ontology

PR:000006932 pikachurin

(term hierarchy)
InterPro Domains

IPR013320 Concanavalin A-like lectin/glucanase domain

IPR001881 EGF-like calcium-binding domain

IPR013032 EGF-like, conserved site

IPR000742 EGF-like domain

IPR003961 Fibronectin type III

IPR013783 Immunoglobulin-like fold

IPR001791 Laminin G domain

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All nucleic 43

cDNA 43

Microarray probesets 3

Summaries

All 31

Developmental Gene Expression 3

Gene Ontology 5

Phenotypes 6
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:237898 Nagaya M, et al., Pikachurin Protein Required for Increase of Cone Electroretinogram B-Wave during Light Adaptation. PLoS One. 2015;10(6):e0128921

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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