MEGF8 - multiple EGF like domains 8 Gene

Also Known as SBP1; CRPT2; EGFL4; C19orf49

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1954

About MEGF8

Cytogenetic location: 19q13.2 Genomic coordinates (GRCh38): 19:42,325,635-42,378,765 (from NCBI)

This gene has 7 transcripts (splice variants), 179 orthologues, 27 paralogues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 10.9), fat (RPKM 6.9) and 25 other tissues.

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]

MEGF8 Products (2)

mRNA Protein Name
NM_001271938.2 NP_001258867.1 multiple epidermal growth factor-like domains protein 8 isoform 1 precursor
NM_001410.3 NP_001401.2 multiple epidermal growth factor-like domains protein 8 isoform 2 precursor

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
21078624 GOA
Biological Process GO Annotation Evidence References Source
involved in cell migration involved in gastrulation IMP
IMP: Inferred from mutant phenotype
23063620 GOA
involved in craniofacial suture morphogenesis IMP
IMP: Inferred from mutant phenotype
23063620 GOA
involved in determination of heart left/right asymmetry IMP
IMP: Inferred from mutant phenotype
23063620 GOA
involved in epiboly involved in gastrulation with mouth forming second IMP
IMP: Inferred from mutant phenotype
23063620 GOA
involved in left/right pattern formation IMP
IMP: Inferred from mutant phenotype
23063620 GOA
involved in limb morphogenesis IMP
IMP: Inferred from mutant phenotype
23063620 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MEGF8 Protein Structure

CUB

CUB: CUB domain (47 - 137)

Kelch_4

Kelch_4: Galactose oxidase, central domain (233 - 276)

Kelch_4

Kelch_4: Galactose oxidase, central domain (279 - 323)

PSI

PSI: Plexin repeat (1005 - 1073)

EGF_CA

EGF_CA: Calcium-binding EGF domain (1074 - 1114)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (1163 - 1208)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (1211 - 1259)

Kelch_4

Kelch_4: Galactose oxidase, central domain (1510 - 1560)

Kelch_4

Kelch_4: Galactose oxidase, central domain (1565 - 1609)

Kelch_4

Kelch_4: Galactose oxidase, central domain (1784 - 1834)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (2348 - 2373)

  • 0
  • 500
  • 1000
  • 1500
  • 2000
  • 2500
  • 2845 a.a.
Protein Preferred Names Protein Names

multiple epidermal growth factor-like domains protein 8

  • EGF-like domain-containing protein 4

MEGF8 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
MEGF8 Q7Z7M0 ATXN7 Homo sapiens O15265
Pull Down
21078624
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Carpenter Syndrome 2

  • CRPT2

  • Carpenter Syndrome, Type 2
Polydactyly

  • Non-Syndromic Polydactyly

  • Polydactyly, Postaxial

  • Postaxial Polydactyly

  • Supernumerary Digit

  • Extra Digits

  • Hyperdactyly

  • Polydactylia

  • Polydactylism

  • Supernumerary Digits
Carpenter Syndrome 1

  • Carpenter Syndrome

  • Acrocephalopolysyndactyly Type Ii

  • Acps Ii

  • CRPT1

  • Acrocephalopolysyndactyly Type 2

  • Acrocephalosyndactyly, Type Ii

  • Acrocephalopolysyndactyly 2

  • Acps2

  • Acps 2

  • Type Ii Acrocephalosyndactyly

  • Carpenter Syndrome, Type 1

  • Apert-Crouzon Disease
Craniosynostosis

  • Premature Closure Of Cranial Sutures

  • Craniostenosis

  • Craniosynostosis Syndrome

  • Cso

  • Craniosynostoses

  • Congenital Ossification Of Cranial Sutures

  • Congenital Ossification Of Sutures Of Skull

  • Craniostosis

  • Imperfect Fusion Of Skull

  • Congenital Imperfect Closure Skull

  • Imperfect Closure Skull

  • Premature Closure Cranium Sutures

  • Deficiency Of Craniofacial Axis
Chromosome 2q35 Duplication Syndrome

  • Syndactyly

  • Syndactyly Type 1

  • Sdty1

  • Zygodactyly

  • Syndactyly, Type I

  • Sd1

  • Syndactyly, Type 1, With Or Without Craniosynostosis

  • Symphalangism

  • Non-Syndromic Syndactyly

  • Symphalangy

  • Webbing Of Digits

  • Syndactyly, Type 1
Umbilical Hernia

  • Hernia, Umbilical
Simpson-Golabi-Behmel Syndrome, Type 1

  • Simpson-Golabi-Behmel Syndrome Type 1

  • Simpson-Golabi-Behmel Syndrome

  • SGBS1

  • Golabi-Rosen Syndrome

  • Simpson Dysmorphia Syndrome

  • Sgbs

  • Bulldog Syndrome

  • Dgsx

  • Sdys

  • Dysplasia Gigantism Syndrome, X-Linked

  • X-Linked Dysplasia Gigantism Syndrome

  • Dgsx Golabi-Rosen Syndrome

  • Sara Angers Syndrome

  • Sgb Syndrome

  • Mental Retardation-Overgrowth Syndrome

  • Simpson Dysplasia Syndrome

  • Simpson Syndrome

  • Simpson-Golabi-Behmel Syndrome 1

  • Dysplasia Gigantism Syndrome X-Linked
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset

  • EMARDD

  • Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset, Mild Variant

  • Early-Onset Myopathy-Areflexia-Respiratory Distress-Dysphagia Syndrome

  • Early-Onset Myopathy, Areflexia, Respiratory Distress And Dysphagia

  • Myopathy, Early-Onset, Areflexia, Respiratory Distress, And Dysphagia
Prostate Small Cell Carcinoma

  • Small Cell Carcinoma Of Prostate

  • Prostate Oat Cell Carcinoma
Apert Syndrome

  • Acrocephalosyndactyly Type I

  • Acs1

  • Acrocephalosyndactylia

  • Acrocephalosyndactyly

  • Acs I

  • Apert-Crouzon Disease

  • Acrocephalosyndactyly Type 1

  • Acrocephalosyndactyly, Type I

  • Acs 1

  • Acrocephalo-Syndactyly Type 1

  • Syndactylic Oxycephaly

  • Apert'S Syndrome

  • Type I Acrocephalosyndactyly

  • APRS
Familial Apolipoprotein C-Ii Deficiency

  • Familial Apoc-Ii Deficiency

  • Familial Apoc2 Deficiency

  • C-Ii Anapolipoproteinemia

  • Hyperlipoproteinemia, Type 1b

  • Hyperlipoproteinemia, Type Ib

  • Hyperlipoproteinemia Type I
Heart Disease

  • Heart Failure

  • Congenital Heart Disease

  • Heart Diseases

  • Congenital Heart Defects

  • Congenital Heart Defect

  • Heart Malformation

  • Congenital Anomaly Of Heart

  • Heart Defect

  • Heart-Congenital Defect

  • Congenital Heart Disorder

  • Heart Defects Congenital

  • Heart Defects, Congenital

  • Heart Defects

  • Heart Disease, Congenital

  • Disease, Heart, Congenital

  • Congestive Heart Failure
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS08317 MEGF8 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS19022 Megf8 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS25511 Megf8 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus MEGF8 VGNC VGNC:63445
Mus musculus MEGF8 MGD MGI:2446294
Macaca mulatta MEGF8 VGNC VGNC:74630
Canis familiaris MEGF8 VGNC VGNC:43148
Rattus norvegicus MEGF8 RGD RGD:621190
Bos taurus MEGF8 VGNC VGNC:31376
Others MEGF8 NCBI