Human Gene MEGF8 (ENST00000334370.8) from GENCODE V44
  Description: Homo sapiens multiple EGF like domains 8 (MEGF8), transcript variant 2, mRNA. (from RefSeq NM_001410)
RefSeq Summary (NM_001410): 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].
Gencode Transcript: ENST00000334370.8
Gencode Gene: ENSG00000105429.13
Transcript (Including UTRs)
   Position: hg38 chr19:42,325,609-42,378,769 Size: 53,161 Total Exon Count: 41 Strand: +
Coding Region
   Position: hg38 chr19:42,326,244-42,376,775 Size: 50,532 Coding Exon Count: 41 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:42,325,609-42,378,769)mRNA (may differ from genome)Protein (2778 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MEGF8_HUMAN
DESCRIPTION: RecName: Full=Multiple epidermal growth factor-like domains protein 8; Short=Multiple EGF-like domains protein 8; AltName: Full=Epidermal growth factor-like protein 4; Short=EGF-like protein 4; Flags: Precursor;
INTERACTION: O15265:ATXN7; NbExp=2; IntAct=EBI-947617, EBI-708350; O00555:CACNA1A; NbExp=2; IntAct=EBI-947617, EBI-766279;
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein (Potential).
SIMILARITY: Contains 2 CUB domains.
SIMILARITY: Contains 5 EGF-like domains.
SIMILARITY: Contains 12 Kelch repeats.
SIMILARITY: Contains 4 laminin EGF-like domains.
SIMILARITY: Contains 7 PSI domains.
SEQUENCE CAUTION: Sequence=AAP35084.1; Type=Erroneous initiation; Sequence=BAA32469.2; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MEGF8
Diseases sorted by gene-association score: carpenter syndrome 2* (1340), carpenter syndrome* (282), umbilical hernia (11)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 21.61 RPKM in Brain - Cortex
Total median expression: 425.08 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -283.80635-0.447 Picture PostScript Text
3' UTR -764.901994-0.384 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000859 - CUB
IPR000742 - EG-like_dom
IPR001881 - EGF-like_Ca-bd
IPR013032 - EGF-like_CS
IPR000152 - EGF-type_Asp/Asn_hydroxyl_site
IPR018097 - EGF_Ca-bd_CS
IPR002049 - EGF_laminin
IPR011043 - Gal_Oxase/kelch_b-propeller
IPR015915 - Kelch-typ_b-propeller
IPR003659 - Plexin-like
IPR002165 - Plexin_repeat

Pfam Domains:
PF00431 - CUB domain
PF07645 - Calcium-binding EGF domain
PF00053 - Laminin EGF domain
PF01437 - Plexin repeat

ModBase Predicted Comparative 3D Structure on Q7Z7M0
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005509 calcium ion binding
GO:0005515 protein binding

Biological Process:
GO:0003143 embryonic heart tube morphogenesis
GO:0007368 determination of left/right symmetry
GO:0010468 regulation of gene expression
GO:0030326 embryonic limb morphogenesis
GO:0030509 BMP signaling pathway
GO:0035108 limb morphogenesis
GO:0042074 cell migration involved in gastrulation
GO:0045879 negative regulation of smoothened signaling pathway
GO:0048704 embryonic skeletal system morphogenesis
GO:0048842 positive regulation of axon extension involved in axon guidance
GO:0055113 epiboly involved in gastrulation with mouth forming second
GO:0060971 embryonic heart tube left/right pattern formation
GO:0060972 left/right pattern formation
GO:0060976 coronary vasculature development
GO:0061371 determination of heart left/right asymmetry
GO:0071907 determination of digestive tract left/right asymmetry
GO:0097094 craniofacial suture morphogenesis
GO:0097155 fasciculation of sensory neuron axon

Cellular Component:
GO:0005634 nucleus
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  LF207559 - JP 2014500723-A/15062: Polycomb-Associated Non-Coding RNAs.
MA443136 - JP 2018138019-A/15062: Polycomb-Associated Non-Coding RNAs.
AB011541 - Homo sapiens mRNA for MEGF8, partial cds.
BC153880 - Homo sapiens multiple EGF-like-domains 8, mRNA (cDNA clone MGC:166912 IMAGE:8860114), complete cds.
AB383999 - Synthetic construct DNA, clone: pF1KSDA0817, Homo sapiens MEGF8 gene for multiple EGF-like-domains 8, complete cds, without stop codon, in Flexi system.
AY280362 - Homo sapiens EGF domain-containing protein mRNA, complete cds.
LF367085 - JP 2014500723-A/174588: Polycomb-Associated Non-Coding RNAs.
MA602662 - JP 2018138019-A/174588: Polycomb-Associated Non-Coding RNAs.
LF367086 - JP 2014500723-A/174589: Polycomb-Associated Non-Coding RNAs.
MA602663 - JP 2018138019-A/174589: Polycomb-Associated Non-Coding RNAs.
LF367087 - JP 2014500723-A/174590: Polycomb-Associated Non-Coding RNAs.
MA602664 - JP 2018138019-A/174590: Polycomb-Associated Non-Coding RNAs.
LF367088 - JP 2014500723-A/174591: Polycomb-Associated Non-Coding RNAs.
MA602665 - JP 2018138019-A/174591: Polycomb-Associated Non-Coding RNAs.
JD412899 - Sequence 393923 from Patent EP1572962.
JD339381 - Sequence 320405 from Patent EP1572962.
JD196609 - Sequence 177633 from Patent EP1572962.
JD479654 - Sequence 460678 from Patent EP1572962.
JD146309 - Sequence 127333 from Patent EP1572962.
JD408710 - Sequence 389734 from Patent EP1572962.
JD460572 - Sequence 441596 from Patent EP1572962.
JD218146 - Sequence 199170 from Patent EP1572962.
JD424453 - Sequence 405477 from Patent EP1572962.
JD201148 - Sequence 182172 from Patent EP1572962.
JD290735 - Sequence 271759 from Patent EP1572962.
JD270364 - Sequence 251388 from Patent EP1572962.
JD405914 - Sequence 386938 from Patent EP1572962.
JD485124 - Sequence 466148 from Patent EP1572962.
JD222835 - Sequence 203859 from Patent EP1572962.
JD065078 - Sequence 46102 from Patent EP1572962.
JD194257 - Sequence 175281 from Patent EP1572962.
JD130500 - Sequence 111524 from Patent EP1572962.
JD178257 - Sequence 159281 from Patent EP1572962.
JD124471 - Sequence 105495 from Patent EP1572962.
JD370384 - Sequence 351408 from Patent EP1572962.
LF367089 - JP 2014500723-A/174592: Polycomb-Associated Non-Coding RNAs.
MA602666 - JP 2018138019-A/174592: Polycomb-Associated Non-Coding RNAs.
JD105059 - Sequence 86083 from Patent EP1572962.
JD199918 - Sequence 180942 from Patent EP1572962.
LF367090 - JP 2014500723-A/174593: Polycomb-Associated Non-Coding RNAs.
MA602667 - JP 2018138019-A/174593: Polycomb-Associated Non-Coding RNAs.
JD195852 - Sequence 176876 from Patent EP1572962.
LF367091 - JP 2014500723-A/174594: Polycomb-Associated Non-Coding RNAs.
MA602668 - JP 2018138019-A/174594: Polycomb-Associated Non-Coding RNAs.
LF367092 - JP 2014500723-A/174595: Polycomb-Associated Non-Coding RNAs.
MA602669 - JP 2018138019-A/174595: Polycomb-Associated Non-Coding RNAs.
LF367093 - JP 2014500723-A/174596: Polycomb-Associated Non-Coding RNAs.
MA602670 - JP 2018138019-A/174596: Polycomb-Associated Non-Coding RNAs.
LF367094 - JP 2014500723-A/174597: Polycomb-Associated Non-Coding RNAs.
MA602671 - JP 2018138019-A/174597: Polycomb-Associated Non-Coding RNAs.
BC033228 - Homo sapiens multiple EGF-like-domains 8, mRNA (cDNA clone IMAGE:5090942), complete cds.
LF367097 - JP 2014500723-A/174600: Polycomb-Associated Non-Coding RNAs.
MA602674 - JP 2018138019-A/174600: Polycomb-Associated Non-Coding RNAs.
JD493628 - Sequence 474652 from Patent EP1572962.
JD227149 - Sequence 208173 from Patent EP1572962.
JD052389 - Sequence 33413 from Patent EP1572962.
JD476415 - Sequence 457439 from Patent EP1572962.
JD334388 - Sequence 315412 from Patent EP1572962.
JD482169 - Sequence 463193 from Patent EP1572962.
JD206827 - Sequence 187851 from Patent EP1572962.
JD108964 - Sequence 89988 from Patent EP1572962.
JD461485 - Sequence 442509 from Patent EP1572962.
JD512058 - Sequence 493082 from Patent EP1572962.
LF367098 - JP 2014500723-A/174601: Polycomb-Associated Non-Coding RNAs.
MA602675 - JP 2018138019-A/174601: Polycomb-Associated Non-Coding RNAs.
JD204727 - Sequence 185751 from Patent EP1572962.
JD463436 - Sequence 444460 from Patent EP1572962.
JD069160 - Sequence 50184 from Patent EP1572962.
JD404778 - Sequence 385802 from Patent EP1572962.
JD428715 - Sequence 409739 from Patent EP1572962.
JD290172 - Sequence 271196 from Patent EP1572962.
JD524533 - Sequence 505557 from Patent EP1572962.
JD479238 - Sequence 460262 from Patent EP1572962.
JD425959 - Sequence 406983 from Patent EP1572962.
JD425960 - Sequence 406984 from Patent EP1572962.
JD129361 - Sequence 110385 from Patent EP1572962.
JD402392 - Sequence 383416 from Patent EP1572962.
JD421138 - Sequence 402162 from Patent EP1572962.
JD274799 - Sequence 255823 from Patent EP1572962.
JD278106 - Sequence 259130 from Patent EP1572962.
JD475870 - Sequence 456894 from Patent EP1572962.
JD122792 - Sequence 103816 from Patent EP1572962.
JD077548 - Sequence 58572 from Patent EP1572962.
JD389798 - Sequence 370822 from Patent EP1572962.
JD124680 - Sequence 105704 from Patent EP1572962.
JD466477 - Sequence 447501 from Patent EP1572962.
JD309122 - Sequence 290146 from Patent EP1572962.
JD422883 - Sequence 403907 from Patent EP1572962.
JD461707 - Sequence 442731 from Patent EP1572962.
JD544499 - Sequence 525523 from Patent EP1572962.
JD399414 - Sequence 380438 from Patent EP1572962.
JD141318 - Sequence 122342 from Patent EP1572962.
JD404097 - Sequence 385121 from Patent EP1572962.
LF367099 - JP 2014500723-A/174602: Polycomb-Associated Non-Coding RNAs.
MA602676 - JP 2018138019-A/174602: Polycomb-Associated Non-Coding RNAs.
JD519631 - Sequence 500655 from Patent EP1572962.
JD392574 - Sequence 373598 from Patent EP1572962.
JD515870 - Sequence 496894 from Patent EP1572962.
JD100359 - Sequence 81383 from Patent EP1572962.
JD377266 - Sequence 358290 from Patent EP1572962.
JD097114 - Sequence 78138 from Patent EP1572962.
JD213595 - Sequence 194619 from Patent EP1572962.
JD467958 - Sequence 448982 from Patent EP1572962.
JD368774 - Sequence 349798 from Patent EP1572962.
LF367100 - JP 2014500723-A/174603: Polycomb-Associated Non-Coding RNAs.
MA602677 - JP 2018138019-A/174603: Polycomb-Associated Non-Coding RNAs.
JD216187 - Sequence 197211 from Patent EP1572962.
JD214514 - Sequence 195538 from Patent EP1572962.
JD436617 - Sequence 417641 from Patent EP1572962.
JD234565 - Sequence 215589 from Patent EP1572962.
LF367101 - JP 2014500723-A/174604: Polycomb-Associated Non-Coding RNAs.
MA602678 - JP 2018138019-A/174604: Polycomb-Associated Non-Coding RNAs.
JD362262 - Sequence 343286 from Patent EP1572962.
JD044040 - Sequence 25064 from Patent EP1572962.
JD209003 - Sequence 190027 from Patent EP1572962.
JD114373 - Sequence 95397 from Patent EP1572962.
JD450773 - Sequence 431797 from Patent EP1572962.
JD450774 - Sequence 431798 from Patent EP1572962.
JD050448 - Sequence 31472 from Patent EP1572962.
JD165876 - Sequence 146900 from Patent EP1572962.
JD243334 - Sequence 224358 from Patent EP1572962.
JD079781 - Sequence 60805 from Patent EP1572962.
JD340247 - Sequence 321271 from Patent EP1572962.
JD447179 - Sequence 428203 from Patent EP1572962.
JD444176 - Sequence 425200 from Patent EP1572962.
JD414216 - Sequence 395240 from Patent EP1572962.
JD248473 - Sequence 229497 from Patent EP1572962.
JD369689 - Sequence 350713 from Patent EP1572962.
JD066716 - Sequence 47740 from Patent EP1572962.
JD184014 - Sequence 165038 from Patent EP1572962.
JD092387 - Sequence 73411 from Patent EP1572962.
JD559073 - Sequence 540097 from Patent EP1572962.
JD538409 - Sequence 519433 from Patent EP1572962.
JD043917 - Sequence 24941 from Patent EP1572962.
LF367102 - JP 2014500723-A/174605: Polycomb-Associated Non-Coding RNAs.
MA602679 - JP 2018138019-A/174605: Polycomb-Associated Non-Coding RNAs.
DQ586561 - Homo sapiens piRNA piR-53673, complete sequence.
JD090052 - Sequence 71076 from Patent EP1572962.
AK026018 - Homo sapiens cDNA: FLJ22365 fis, clone HRC06613.
JD314063 - Sequence 295087 from Patent EP1572962.
LF367103 - JP 2014500723-A/174606: Polycomb-Associated Non-Coding RNAs.
MA602680 - JP 2018138019-A/174606: Polycomb-Associated Non-Coding RNAs.
JD332857 - Sequence 313881 from Patent EP1572962.
JD214524 - Sequence 195548 from Patent EP1572962.
JD441122 - Sequence 422146 from Patent EP1572962.
JD355429 - Sequence 336453 from Patent EP1572962.
LF367104 - JP 2014500723-A/174607: Polycomb-Associated Non-Coding RNAs.
MA602681 - JP 2018138019-A/174607: Polycomb-Associated Non-Coding RNAs.
BC093649 - Homo sapiens multiple EGF-like-domains 8, mRNA (cDNA clone IMAGE:7939494).
BC111942 - Homo sapiens multiple EGF-like-domains 8, mRNA (cDNA clone IMAGE:8327410).
AF497566 - Homo sapiens HBV pre-s2 binding protein 1 mRNA, complete cds.
LF367105 - JP 2014500723-A/174608: Polycomb-Associated Non-Coding RNAs.
MA602682 - JP 2018138019-A/174608: Polycomb-Associated Non-Coding RNAs.
LF367106 - JP 2014500723-A/174609: Polycomb-Associated Non-Coding RNAs.
MA602683 - JP 2018138019-A/174609: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: A8KAY0, C19orf49, EGFL4, ENST00000334370.1, ENST00000334370.2, ENST00000334370.3, ENST00000334370.4, ENST00000334370.5, ENST00000334370.6, ENST00000334370.7, KIAA0817, MEGF8_HUMAN, NM_001410, O75097, Q7Z7M0, uc002otl.1, uc002otl.2, uc002otl.3, uc002otl.4
UCSC ID: ENST00000334370.8
RefSeq Accession: NM_001410
Protein: Q7Z7M0 (aka MEGF8_HUMAN)
CCDS: CCDS12604.2, CCDS62693.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.