Gene Gene information from NCBI Gene database.
Entrez ID 1954
Gene name Multiple EGF like domains 8
Gene symbol MEGF8
Synonyms (NCBI Gene)
C19orf49CRPT2EGFL4SBP1
Chromosome 19
Chromosome location 19q13.2
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 encodin
SNPs SNP information provided by dbSNP.
5
SNP ID Visualize variation Clinical significance Consequence
rs141224456 C>T Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs397514621 C>T Pathogenic Stop gained, coding sequence variant
rs397515427 G>A,C Pathogenic Coding sequence variant, missense variant
rs397515428 A>G Pathogenic Coding sequence variant, missense variant
rs1206116606 G>C Pathogenic Splice donor variant
miRNA miRNA information provided by mirtarbase database.
432
miRTarBase ID miRNA Experiments Reference
MIRT029661 hsa-miR-26b-5p Microarray 19088304
MIRT051194 hsa-miR-16-5p CLASH 23622248
MIRT042296 hsa-miR-484 CLASH 23622248
MIRT041496 hsa-miR-193b-3p CLASH 23622248
MIRT040080 hsa-miR-615-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
51
GO ID Ontology Definition Evidence Reference
GO:0000151 Component Ubiquitin ligase complex IEA
GO:0002009 Process Morphogenesis of an epithelium IEA
GO:0003143 Process Embryonic heart tube morphogenesis IEA
GO:0003143 Process Embryonic heart tube morphogenesis ISS
GO:0005509 Function Calcium ion binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604267 3233 ENSG00000105429
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q7Z7M0
Protein name Multiple epidermal growth factor-like domains protein 8 (Multiple EGF-like domains protein 8) (Epidermal growth factor-like protein 4) (EGF-like protein 4)
Protein function Acts as a negative regulator of hedgehog signaling.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00431 CUB 30 137 CUB domain Domain
PF13418 Kelch_4 227 277 Repeat
PF01437 PSI 1005 1073 Plexin repeat Family
PF12947 EGF_3 1078 1114 EGF domain Domain
PF00053 Laminin_EGF 1163 1208 Laminin EGF domain Domain
PF00053 Laminin_EGF 1211 1262 Laminin EGF domain Domain
PF13418 Kelch_4 1509 1564 Repeat
PF07645 EGF_CA 2179 2232 Calcium-binding EGF domain Domain
PF00053 Laminin_EGF 2335 2378 Laminin EGF domain Domain
Sequence
MALGKVLAMALVLALAVLGSLSPGARAGDCKGQRQVLREAPGFVTDGAGNYSVNGNCEWL
IEAPSPQHRILLDFLFLDTECTYDYLFVYDGDSPRGPLLASLSGSTRPPPIEASSGKMLL
HLFSDANYNLLGFNASF
RFSLCPGGCQSHGQCQPPGVCACEPGWGGPDCGLQECSAYCGS
HGTCASPLGPCRCEPGFLGRACDLHLWENQGAGWWHNVSARDPAFSARIGAAGAFLSPPG
LLAVFGGQDLNNALGDLVLYNFSANTWESWDLSPAPA
ARHSHVAVAWAGSLVLMGGELAD
GSLTNDVWAFSPLGRGHWELLAPPASSSSGPPGLAGHAAALVDDVWLYVSGGRTPHDLFS
SGLFRFRLDSTSGGYWEQVIPAGGRPPAATGHSMVFHAPSRALLVHGGHRPSTARFSVRV
NSTELFHVDRHVWTTLKGRDGLQGPRERAFHTASVLGNYMVVYGGNVHTHYQEEKCYEDG
IFFYHLGCHQWVSGAELAPPGTPEGRAAPPSGRYSHVAAVLGGSVLLVAGGYSGRPRGDL
MAYKVPPFVFQAPAPDYHLDYCSMYTDHSVCSRDPECSWCQGACQAAPPPGTPLGACPAA
SCLGLGRLLGDCQACLAFSSPTAPPRGPGTLGWCVHNESCLPRPEQARCRGEQISGTVGW
WGPAPVFVTSLEACVTQSFLPGLHLLTFQQPPNTSQPDKVSIVRSTTITLTPSAETDVSL
VYRGFIYPMLPGGPGGPGAEDVAVWTRAQRLHVLARMARGPDTENMEEVGRWVAHQEKET
RRLQRPGSARLFPLPGRDHKYAVEIQGQLNGSAGPGHSELTLLWDRTGVPGGSEISFFFL
EPYRSSSCTSYSSCLGCLADQGCGWCLTSATCHLRQGGAHCGDDGAGGSLLVLVPTLCPL
CEEHRDCHACTQDPFCEWHQSTSRKGDAACSRRGRGRGALKSPEECPPLCSQRLTCEDCL
ANSSQCAWCQSTHTCFLFAAYLARYPHGGCRGWDDSVHSEPRCRSCDGFLTCHECLQSHE
CGWCGNEDNPTLGRCLQGDFSGPLGGGNCSLWVGEGLGLPVALPARWAYARCP
DVDECRL
GLARCHPRATCLNTPLSYECHCQRGYQGDGISHC
NRTCLEDCGHGVCSGPPDFTCVCDLG
WTSDLPPPTPAPGPPAPRCSRDCGCSFHSHCRKRGPGFCDECQDWTWGEHCERCRPGSFG
NATGSRGC
RPCQCNGHGDPRRGHCDNLSGLCFCQDHTEGAHCQLCSPGYYGDPRAGGSCF
RE
CGGRALLTNVSSVALGSRRVGGLLPPGGGAARAGPGLSYCVWVVSATEELQPCAPGTL
CPPLTLTFSPDSSTPCTLSYVLAFDGFPRFLDTGVVQSDRSLIAAFCGQRRDRPLTVQAL
SGLLVLHWEANGSSSWGFNASVGSARCGSGGPGSCPVPQECVPQDGAAGAGLCRCPQGWA
GPHCRMALCPENCNAHTGAGTCNQSLGVCICAEGFGGPDCATKLDGGQLVWETLMDSRLS
ADTASRFLHRLGHTMVDGPDATLWMFGGLGLPQGLLGNLYRYSVSERRWTQMLAGAEDGG
PGPS
PRSFHAAAYVPAGRGAMYLLGGLTAGGVTRDFWVLNLTTLQWRQEKAPQTVELPAV
AGHTLTARRGLSLLLVGGYSPENGFNQQLLEYQLATGTWVSGAQSGTPPTGLYGHSAVYH
EATDSLYVFGGFRFHVELAAPSPELYSLHCPDRTWSLLAPSQGAKRDRMRNVRGSSRGLG
QVPGEQPGSWGFREVRKKMALWAALAGTGGFLEEISPHLKEPRPRLFHASALLGDTMVVL
GGRSDPDEFSSDVLLYQVNCNAWLLPDLTRSASVGPPMEESVAHAVAAVGSRLYISGGFG
GVALGRLLALTLPPDPCRLLSSPEACNQSGACTWCHGACLSGDQAHRLGCGGSPCSPMPR
SPEECRRLRTCSECLARHPRTLQPGDGEASTPRCKWCTNCPEGACIGRNGSCTSENDCRI
NQREVFWAGNCSEAACGAADCEQCTREGKCMWTRQFKRTGETRRILSVQPTYDWTCFSHS
LLNVSPMPVESSPPLPCPTPCHLLPNCTSCLDSKGADGGWQHCVWSSSLQQCLSPSYLPL
RCMAGGCGRLLRGPESCSLGCAQATQCALCLRRPHCGWCAWGGQDGGGRCMEGGLSGPRD
GLTCGRPGASWAFLSCPPEDECANGHHDCNETQNCHDQPHGYECSCKTGYTMDNMTGLCR
PVCAQGCVNGSC
VEPDHCRCHFGFVGRNCSTECRCNRHSECAGVGARDHCLLCRNHTKGS
HCEQCLPLFVGSAVGGGTCRPCHAFCRGNSHICISRKELQMSKGEPKKYSLDPEEIENWV
TEGPSEDEAVCVNCQNNSYGEKCESCLQGYFLLDGKCT
KCQCNGHADTCNEQDGTGCPCQ
NNTETGTCQGSSPSDRRDCYKYQCAKCRESFHGSPLGGQQCYRLISVEQECCLDPTSQTN
CFHEPKRRALGPGRTVLFGVQPKFTNVDIRLTLDVTFGAVDLYVSTSYDTFVVRVAPDTG
VHTVHIQPPPAPPPPPPPADGGPRGAGDPGGAGASSGPGAPAEPRVREVWPRGLITYVTV
TEPSAVLVVRGVRDRLVITYPHEHHALKSSRFYLLLLGVGDPSGPGANGSADSQGLLFFR
QDQAHIDLFVFFSVFFSCFFLFLSLCVLLWKAKQALDQRQEQRRHLQEMTKMASRPFAKV
TVCFPPDPTAPASAWKPAGLPPPAFRRSEPFLAPLLLTGAGGPWGPMGGGCCPPAIPATT
AGLRAGPITLEPTEDGMAGVATLLLQLPGGPHAPNGACLGSALVTLRHRLHEYCGGGGGA
GGSGHGTGAGRKGLLSQDNLTSMSL
Sequence length 2845
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Hedgehog signaling pathway  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
627
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Carpenter syndrome Likely pathogenic rs1224632697, rs1298106714, rs2514272812 RCV001582407
RCV002470027
RCV003226720
Craniosynostosis syndrome Likely pathogenic rs775004286 RCV001509552
MEGF8-related Carpenter syndrome Pathogenic; Likely pathogenic rs1164577355, rs775004286, rs1222471099, rs761406257, rs2514301445, rs2514272936, rs2514309368, rs758179285, rs1568566883, rs2147506322, rs779375840, rs2514360725, rs2514360670, rs2514360779, rs397515427
View all (6 more)
RCV003446786
RCV003446788
RCV001990032
RCV002280256
RCV002601287
RCV002857146
RCV002885676
RCV002979664
RCV003036131
RCV003538978
RCV003844225
RCV004555708
RCV004555709
RCV004555710
RCV000033072
RCV000033073
RCV000033074
RCV000033075
RCV000680041
RCV001197591
RCV001289994
Polydactyly Likely pathogenic rs775004286 RCV001509552
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely benign rs138235390 RCV005896944
Cervical cancer Likely benign rs140035679 RCV005907209
Colorectal cancer Likely benign rs140035679 RCV005907210
Gastric cancer Likely benign; Conflicting classifications of pathogenicity rs140035679, rs201140958 RCV005907211
RCV005906550
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Genetic Diseases Inborn Associate 34117072
Neoplasms Inhibit 25993660
Prostatic Neoplasms Associate 25993660