MEGF8 multiple EGF like domains 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MEGF8provided by HGNC
Official Full Name: multiple EGF like domains 8provided by HGNC
Primary source: HGNC:HGNC:3233
See related: Ensembl:ENSG00000105429 MIM:604267; AllianceGenome:HGNC:3233
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SBP1; CRPT2; EGFL4; C19orf49
Summary: The protein encoded by this gene is a single-pass type I membrane protein of unknown function that contains several EGF-like domains, Kelch repeats, and PSI domains. Defects in this gene are a cause of Carpenter syndrome 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
Expression: Ubiquitous expression in brain (RPKM 10.9), fat (RPKM 6.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.2

Exon count:: 42

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (42325635..42378765)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (45145020..45198149)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (42829787..42882917)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients.
Title: The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients.
Role and mechanism of miR-871-3p/Megf8 in regulating formaldehyde-induced cardiomyocyte inflammation and congenital heart disease.
Title: Role and mechanism of miR-871-3p/Megf8 in regulating formaldehyde-induced cardiomyocyte inflammation and congenital heart disease.
mutations in MEGF8 cause a Carpenter syndrome subtype frequently associated with defective left-right patterning, probably through perturbation of signaling by hedgehog and nodal family members.
Title: Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization.

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

Associated conditions

Description	Tests
MEGF8-related Carpenter syndrome MedGen: C3554247 OMIM: 614976 GeneReviews: Not available	Compare labs

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

D1S1423 (e-PCR)
- UniSTS:149619

RH36905 (e-PCR)
- UniSTS:87932

STS-R97176 (e-PCR)
- UniSTS:9388

NoName (e-PCR)
- UniSTS:485552

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in BMP signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in aorta development	IEA Inferred from Electronic Annotation more info
involved_in cell migration involved in gastrulation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in coronary vasculature development	IEA Inferred from Electronic Annotation more info
involved_in craniofacial suture morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in determination of digestive tract left/right asymmetry	ISS Inferred from Sequence or Structural Similarity more info
involved_in determination of heart left/right asymmetry	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic brain development	IEA Inferred from Electronic Annotation more info
involved_in embryonic digit morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in embryonic heart tube left/right pattern formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in embryonic heart tube morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in embryonic limb morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in embryonic skeletal system morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in epiboly involved in gastrulation with mouth forming second	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in fasciculation of sensory neuron axon	ISS Inferred from Sequence or Structural Similarity more info
involved_in left/right pattern formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in limb morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of smoothened signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in pharyngeal arch artery morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of axon extension involved in axon guidance	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein ubiquitination	IEA Inferred from Electronic Annotation more info
involved_in protein-containing complex assembly	IEA Inferred from Electronic Annotation more info
involved_in regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in smoothened signaling pathway	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
part_of ubiquitin ligase complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: multiple epidermal growth factor-like domains protein 8

Names: EGF-like domain-containing protein 4; EGF-like-domain, multiple 4; HBV pre-S2-binding protein 1; HBV pre-s2 binding protein 1; epidermal growth factor-like protein 4; hepatitis B virus pre-S2-binding protein 1

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.

Genomic

NG_033030.1 RefSeqGene

Range

5027..58157

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001271938.2 → NP_001258867.1 multiple epidermal growth factor-like domains protein 8 isoform 1 precursor

See identical proteins and their annotated locations for NP_001258867.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC011497, AY280362, BC153880

Consensus CDS

CCDS62693.1

UniProtKB/Swiss-Prot

A8KAY0, O75097, Q7Z7M0

Related

ENSP00000251268.5, ENST00000251268.11

Conserved Domains (9) summary

cd00041
Location:49 → 139

CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

cd00055
Location:1210 → 1259

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 ...

sd00038
Location:228 → 275

Kelch; KELCH repeat [structural motif]

pfam01437
Location:950 → 998

PSI; Plexin repeat

pfam06247
Location:2189 → 2314

Plasmod_Pvs28; Plasmodium ookinete surface protein Pvs28

pfam12947
Location:1078 → 1112

EGF_3; EGF domain

pfam13415
Location:1630 → 1680

Kelch_3; Galactose oxidase, central domain

pfam13418
Location:227 → 276

Kelch_4; Galactose oxidase, central domain

cl00057
Location:1011 → 1035

vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
NM_001410.3 → NP_001401.2 multiple epidermal growth factor-like domains protein 8 isoform 2 precursor

See identical proteins and their annotated locations for NP_001401.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AB011541, AC011497

Consensus CDS

CCDS12604.2

UniProtKB/Swiss-Prot

Q7Z7M0

Related

ENSP00000334219.4, ENST00000334370.8

Conserved Domains (9) summary

cd00041
Location:49 → 139

CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

cd00055
Location:1143 → 1192

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 ...

sd00038
Location:228 → 275

Kelch; KELCH repeat [structural motif]

pfam01437
Location:883 → 931

PSI; Plexin repeat

pfam06247
Location:2122 → 2247

Plasmod_Pvs28; Plasmodium ookinete surface protein Pvs28

pfam12947
Location:1011 → 1045

EGF_3; EGF domain

pfam13415
Location:1563 → 1613

Kelch_3; Galactose oxidase, central domain

pfam13418
Location:227 → 276

Kelch_4; Galactose oxidase, central domain

cl00057
Location:944 → 968

vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...