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

Gene ID: 1954, updated on 12-Mar-2017
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; Vega:OTTHUMG00000150342
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]
Orthologs
Location:
19q13.2
Exon count:
42
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 19 NC_000019.10 (42325609..42378769)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (42829730..42882921)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene platelet activating factor acetylhydrolase 1b catalytic subunit 3 Neighboring gene proline rich 19 Neighboring gene transmembrane protein 145 Neighboring gene microRNA 8077 Neighboring gene uncharacterized LOC101930071 Neighboring gene LIPE antisense RNA 1 Neighboring gene cornifelin Neighboring gene lipase E, hormone sensitive type

  • Project title: 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 Jun 15 11:32:44 2016
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ22365, MGC120684, MGC138147

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
BMP signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
cell migration involved in gastrulation IMP
Inferred from Mutant Phenotype
more info
PubMed 
coronary vasculature development IEA
Inferred from Electronic Annotation
more info
 
craniofacial suture morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
determination of digestive tract left/right asymmetry ISS
Inferred from Sequence or Structural Similarity
more info
 
determination of heart left/right asymmetry IMP
Inferred from Mutant Phenotype
more info
PubMed 
embryonic heart tube left/right pattern formation ISS
Inferred from Sequence or Structural Similarity
more info
 
embryonic heart tube morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
embryonic limb morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
embryonic skeletal system morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
epiboly involved in gastrulation with mouth forming second IMP
Inferred from Mutant Phenotype
more info
PubMed 
fasciculation of sensory neuron axon ISS
Inferred from Sequence or Structural Similarity
more info
 
left/right pattern formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
limb morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of axon extension involved in axon guidance ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
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

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

  1. NG_033030.1 RefSeqGene

    Range
    5001..58161
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001271938.1NP_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
    Q7Z7M0
    Related
    ENSP00000251268, OTTHUMP00000270271, ENST00000251268, OTTHUMT00000463854
    Conserved Domains (9) summary
    cd00041
    Location:49139
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    cd00055
    Location:12101259
    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:228275
    Kelch; KELCH repeat [structural motif]
    pfam01437
    Location:950998
    PSI; Plexin repeat
    pfam06247
    Location:21892314
    Plasmod_Pvs28; Plasmodium ookinete surface protein Pvs28
    pfam12947
    Location:10781112
    EGF_3; EGF domain
    pfam13415
    Location:16301680
    Kelch_3; Galactose oxidase, central domain
    pfam13418
    Location:227276
    Kelch_4; Galactose oxidase, central domain
    cl00057
    Location:10111035
    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 ...
  2. NM_001410.2NP_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, OTTHUMP00000197110, ENST00000334370, OTTHUMT00000317695
    Conserved Domains (9) summary
    cd00041
    Location:49139
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    cd00055
    Location:11431192
    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:228275
    Kelch; KELCH repeat [structural motif]
    pfam01437
    Location:883931
    PSI; Plexin repeat
    pfam06247
    Location:21222247
    Plasmod_Pvs28; Plasmodium ookinete surface protein Pvs28
    pfam12947
    Location:10111045
    EGF_3; EGF domain
    pfam13415
    Location:15631613
    Kelch_3; Galactose oxidase, central domain
    pfam13418
    Location:227276
    Kelch_4; Galactose oxidase, central domain
    cl00057
    Location:944968
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p7 Primary Assembly

    Range
    42325609..42378769
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 Alternate CHM1_1.1

    Range
    42831424..42884572
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_178121.2: Suppressed sequence

    Description
    NM_178121.2: This RefSeq was permanently suppressed because it is primarily UTR sequence.
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