• Gene id: 1954

Gene Summary

• Gene Symbol: MEGF8   Gene   UCSC   Ensembl
• Aliases: C19orf49, CRPT2, EGFL4, SBP1
• Gene name: multiple EGF like domains 8
• Alternate names: multiple epidermal growth factor-like domains protein 8, 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 prot,
• Gene location: 19q13.2 (42325634: 42378764)     Exons: 2     NC_000019.10
• Gene summary(Entrez): 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
• OMIM: 604267

Protein Summary

• Protein general information: Q7Z7M0  
  • 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)
  • Length: 2845  
  • Mass: 303100
• Sequence:

  MALGKVLAMALVLALAVLGSLSPGARAGDCKGQRQVLREAPGFVTDGAGNYSVNGNCEWLIEAPSPQHRILLDFL
  FLDTECTYDYLFVYDGDSPRGPLLASLSGSTRPPPIEASSGKMLLHLFSDANYNLLGFNASFRFSLCPGGCQSHG
  QCQPPGVCACEPGWGGPDCGLQECSAYCGSHGTCASPLGPCRCEPGFLGRACDLHLWENQGAGWWHNVSARDPAF
  SARIGAAGAFLSPPGLLAVFGGQDLNNALGDLVLYNFSANTWESWDLSPAPAARHSHVAVAWAGSLVLMGGELAD
  GSLTNDVWAFSPLGRGHWELLAPPASSSSGPPGLAGHAAALVDDVWLYVSGGRTPHDLFSSGLFRFRLDSTSGGY
  WEQVIPAGGRPPAATGHSMVFHAPSRALLVHGGHRPSTARFSVRVNSTELFHVDRHVWTTLKGRDGLQGPRERAF
  HTASVLGNYMVVYGGNVHTHYQEEKCYEDGIFFYHLGCHQWVSGAELAPPGTPEGRAAPPSGRYSHVAAVLGGSV
  LLVAGGYSGRPRGDLMAYKVPPFVFQAPAPDYHLDYCSMYTDHSVCSRDPECSWCQGACQAAPPPGTPLGACPAA
  SCLGLGRLLGDCQACLAFSSPTAPPRGPGTLGWCVHNESCLPRPEQARCRGEQISGTVGWWGPAPVFVTSLEACV
  TQSFLPGLHLLTFQQPPNTSQPDKVSIVRSTTITLTPSAETDVSLVYRGFIYPMLPGGPGGPGAEDVAVWTRAQR
  LHVLARMARGPDTENMEEVGRWVAHQEKETRRLQRPGSARLFPLPGRDHKYAVEIQGQLNGSAGPGHSELTLLWD
  RTGVPGGSEISFFFLEPYRSSSCTSYSSCLGCLADQGCGWCLTSATCHLRQGGAHCGDDGAGGSLLVLVPTLCPL
  CEEHRDCHACTQDPFCEWHQSTSRKGDAACSRRGRGRGALKSPEECPPLCSQRLTCEDCLANSSQCAWCQSTHTC
  FLFAAYLARYPHGGCRGWDDSVHSEPRCRSCDGFLTCHECLQSHECGWCGNEDNPTLGRCLQGDFSGPLGGGNCS
  LWVGEGLGLPVALPARWAYARCPDVDECRLGLARCHPRATCLNTPLSYECHCQRGYQGDGISHCNRTCLEDCGHG
  VCSGPPDFTCVCDLGWTSDLPPPTPAPGPPAPRCSRDCGCSFHSHCRKRGPGFCDECQDWTWGEHCERCRPGSFG
  NATGSRGCRPCQCNGHGDPRRGHCDNLSGLCFCQDHTEGAHCQLCSPGYYGDPRAGGSCFRECGGRALLTNVSSV
  ALGSRRVGGLLPPGGGAARAGPGLSYCVWVVSATEELQPCAPGTLCPPLTLTFSPDSSTPCTLSYVLAFDGFPRF
  LDTGVVQSDRSLIAAFCGQRRDRPLTVQALSGLLVLHWEANGSSSWGFNASVGSARCGSGGPGSCPVPQECVPQD
  GAAGAGLCRCPQGWAGPHCRMALCPENCNAHTGAGTCNQSLGVCICAEGFGGPDCATKLDGGQLVWETLMDSRLS
  ADTASRFLHRLGHTMVDGPDATLWMFGGLGLPQGLLGNLYRYSVSERRWTQMLAGAEDGGPGPSPRSFHAAAYVP
  AGRGAMYLLGGLTAGGVTRDFWVLNLTTLQWRQEKAPQTVELPAVAGHTLTARRGLSLLLVGGYSPENGFNQQLL
  EYQLATGTWVSGAQSGTPPTGLYGHSAVYHEATDSLYVFGGFRFHVELAAPSPELYSLHCPDRTWSLLAPSQGAK
  RDRMRNVRGSSRGLGQVPGEQPGSWGFREVRKKMALWAALAGTGGFLEEISPHLKEPRPRLFHASALLGDTMVVL
  GGRSDPDEFSSDVLLYQVNCNAWLLPDLTRSASVGPPMEESVAHAVAAVGSRLYISGGFGGVALGRLLALTLPPD
  PCRLLSSPEACNQSGACTWCHGACLSGDQAHRLGCGGSPCSPMPRSPEECRRLRTCSECLARHPRTLQPGDGEAS
  TPRCKWCTNCPEGACIGRNGSCTSENDCRINQREVFWAGNCSEAACGAADCEQCTREGKCMWTRQFKRTGETRRI
  LSVQPTYDWTCFSHSLLNVSPMPVESSPPLPCPTPCHLLPNCTSCLDSKGADGGWQHCVWSSSLQQCLSPSYLPL
  RCMAGGCGRLLRGPESCSLGCAQATQCALCLRRPHCGWCAWGGQDGGGRCMEGGLSGPRDGLTCGRPGASWAFLS
  CPPEDECANGHHDCNETQNCHDQPHGYECSCKTGYTMDNMTGLCRPVCAQGCVNGSCVEPDHCRCHFGFVGRNCS
  TECRCNRHSECAGVGARDHCLLCRNHTKGSHCEQCLPLFVGSAVGGGTCRPCHAFCRGNSHICISRKELQMSKGE
  PKKYSLDPEEIENWVTEGPSEDEAVCVNCQNNSYGEKCESCLQGYFLLDGKCTKCQCNGHADTCNEQDGTGCPCQ
  NNTETGTCQGSSPSDRRDCYKYQCAKCRESFHGSPLGGQQCYRLISVEQECCLDPTSQTNCFHEPKRRALGPGRT
  VLFGVQPKFTNVDIRLTLDVTFGAVDLYVSTSYDTFVVRVAPDTGVHTVHIQPPPAPPPPPPPADGGPRGAGDPG
  GAGASSGPGAPAEPRVREVWPRGLITYVTVTEPSAVLVVRGVRDRLVITYPHEHHALKSSRFYLLLLGVGDPSGP
  GANGSADSQGLLFFRQDQAHIDLFVFFSVFFSCFFLFLSLCVLLWKAKQALDQRQEQRRHLQEMTKMASRPFAKV
  TVCFPPDPTAPASAWKPAGLPPPAFRRSEPFLAPLLLTGAGGPWGPMGGGCCPPAIPATTAGLRAGPITLEPTED
  GMAGVATLLLQLPGGPHAPNGACLGSALVTLRHRLHEYCGGGGGAGGSGHGTGAGRKGLLSQDNLTSMSL

• Structural information:
  • Protein Domains: (30..14-)
    (/note="CUB-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00059-)
    (138..16-)
    (/note="EGF-like-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-)
    (170..20-)
    (/note="EGF-like-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00-)
  • Interpro: IPR000859  IPR001881  IPR013032  IPR000742  IPR000152   IPR018097  IPR024731  IPR015915  IPR002049  IPR002165  IPR016201  IPR035914  
  • Prosite: PS00010 PS01180 PS00022 PS01186 PS50026 PS01187 PS01248 PS50027
  • CDD: cd00041
  • STRING: ENSP00000251268
• Other Databases: GeneCards:  MEGF8  Malacards:  MEGF8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0009887	animal organ morphogenesis	IBA	biological process
GO:0009888	tissue development	IBA	biological process
GO:0045879	negative regulation of smoothened signaling pathway	ISS	biological process
GO:0005509	calcium ion binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0097155	fasciculation of sensory neuron axon	IEA	biological process
GO:0071907	determination of digestive tract left/right asymmetry	IEA	biological process
GO:0061371	determination of heart left/right asymmetry	IEA	biological process
GO:0060976	coronary vasculature development	IEA	biological process
GO:0030326	embryonic limb morphogenesis	IEA	biological process
GO:0060972	left/right pattern formation	IEA	biological process
GO:0060971	embryonic heart tube left/right pattern formation	IEA	biological process
GO:0048842	positive regulation of axon extension involved in axon guidance	IEA	biological process
GO:0048704	embryonic skeletal system morphogenesis	IEA	biological process
GO:0045879	negative regulation of smoothened signaling pathway	IEA	biological process
GO:0030509	BMP signaling pathway	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0007368	determination of left/right symmetry	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003143	embryonic heart tube morphogenesis	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0060971	embryonic heart tube left/right pattern formation	ISS	biological process
GO:0048704	embryonic skeletal system morphogenesis	ISS	biological process
GO:0035108	limb morphogenesis	IMP	biological process
GO:0010468	regulation of gene expression	ISS	biological process
GO:0097094	craniofacial suture morphogenesis	IMP	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0055113	epiboly involved in gastrulation with mouth forming second	IMP	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0060972	left/right pattern formation	IMP	biological process
GO:0048842	positive regulation of axon extension involved in axon guidance	ISS	biological process
GO:0030509	BMP signaling pathway	ISS	biological process
GO:0005634	nucleus	ISS	cellular component
GO:0003143	embryonic heart tube morphogenesis	ISS	biological process
GO:0097155	fasciculation of sensory neuron axon	ISS	biological process
GO:0071907	determination of digestive tract left/right asymmetry	ISS	biological process
GO:0061371	determination of heart left/right asymmetry	IMP	biological process
GO:0042074	cell migration involved in gastrulation	IMP	biological process
GO:0030326	embryonic limb morphogenesis	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04340	Hedgehog signaling pathway

Diseases

Associated diseases	References
Carpenter syndrome	KEGG:H01888
Carpenter syndrome	KEGG:H01888
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq