2. Gene
  3. MEGF8 - multiple EGF like domains 8 Gene

MEGF8 - multiple EGF like domains 8 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as SBP1; CRPT2; EGFL4; C19orf49

Gene ID: 1954 | Gene type: protein coding

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 Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
21078624 GOA
Biological Process GO Annotation Evidence Reference 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
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  • 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 Reference
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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS08317 MEGF8 Human Pre-designed siRNA Set A Pre-designed Sets / 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