MEGF9 multiple EGF like domains 9 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MEGF9provided by HGNC
Official Full Name: multiple EGF like domains 9provided by HGNC
Primary source: HGNC:HGNC:3234
See related: Ensembl:ENSG00000106780 MIM:604268; AllianceGenome:HGNC:3234
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: EGFL5
Summary: Predicted to enable small GTPase binding activity. Predicted to be involved in regulation of actin filament polymerization. Predicted to be located in basement membrane and membrane. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in thyroid (RPKM 22.6), brain (RPKM 20.0) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q33.2

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (120600811..120714470, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (132795136..132910624, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (123363089..123476748, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

miR-7/EGFR/MEGF9 axis regulates cartilage degradation in osteoarthritis via PI3K/AKT/mTOR signaling pathway.
Title: miR-7/EGFR/MEGF9 axis regulates cartilage degradation in osteoarthritis via PI3K/AKT/mTOR signaling pathway.
miR-125b acts as a tumor suppressor in breast tumorigenesis via its novel direct targets ENPEP, CK2-alpha, CCNJ, and MEGF9.
Title: miR-125b acts as a tumor suppressor in breast tumorigenesis via its novel direct targets ENPEP, CK2-α, CCNJ, and MEGF9.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association of lipid-lowering response to statins in combined study populations. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

STS-T79417 (e-PCR)
- UniSTS:79151

PMC156606P1 (e-PCR)
- UniSTS:271408

D8S2279 (e-PCR)
- UniSTS:473907

D9S1087 (e-PCR)
- UniSTS:63556

RH122682 (e-PCR)
- UniSTS:133960

STS-N34474 (e-PCR)
- UniSTS:34384

SHGC-152520 (e-PCR)
- UniSTS:177541

RH80677 (e-PCR)
- UniSTS:91053

RH47226 (e-PCR)
- UniSTS:62931

D9S1850 (e-PCR), detects polymorphism
- UniSTS:66529

Gene Ontology Provided by GOA

Component	Evidence Code	Pubs
located_in basement membrane	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: multiple epidermal growth factor-like domains protein 9

Names: EGF-like-domain, multiple 5; epidermal growth factor-like protein 5

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001080497.3 → NP_001073966.2 multiple epidermal growth factor-like domains protein 9 precursor

See identical proteins and their annotated locations for NP_001073966.2

Status: VALIDATED

Source sequence(s)

AB011542, AJ420444, AK295380, AL138836, BC016989, CK300579

Consensus CDS

CCDS48010.2

UniProtKB/Swiss-Prot

B7Z315, O75098, Q9H1U4

Related

ENSP00000363040.3, ENST00000373930.4

Conserved Domains (2) summary

cd00055
Location:204 → 252

EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...

pfam00053
Location:254 → 301

Laminin_EGF; Laminin EGF domain