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
Data last updated at UCSC: 2023-08-18 00:09:47
Sequence and Links to Tools and Databases
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
MalaCards Disease Associations
Comparative Toxicogenomics Database (CTD)
RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
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
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.
Gene Ontology (GO) Annotations with Structured Vocabulary
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.4UCSC ID: ENST00000334370.8RefSeq Accession: NM_001410
Protein: Q7Z7M0
(aka MEGF8_HUMAN)
CCDS: CCDS12604.2 , CCDS62693.1
Methods, Credits, and Use Restrictions
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for details on how this gene model was made and data restrictions if any.