Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1954
Gene name Gene Name - the full gene name approved by the HGNC.
Multiple EGF like domains 8
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MEGF8
Synonyms (NCBI Gene) Gene synonyms aliases
C19orf49, CRPT2, EGFL4, SBP1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CRPT2
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003143 Process Embryonic heart tube morphogenesis ISS
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 21078624
GO:0005634 Component Nucleus ISS
GO:0009887 Process Animal organ morphogenesis IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604267 3233 ENSG00000105429
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852
View all (22 more)
Carpenter syndrome Acrocephalopolysyndactyly type 2, CARPENTER SYNDROME 2, CARPENTER SYNDROME 1, Carpenter syndrome rs121908171, rs1438138090, rs1593223800, rs397515427, rs397515428, rs397514621, rs2147448693, rs765443042, rs1060505026, rs1206116606, rs1593223920 23063620
Craniosynostosis Craniosynostosis rs104893895, rs587777006, rs587777007, rs587777008, rs587777010, rs864321680, rs864321681, rs1057517670, rs1064794325, rs1555750816, rs1599823350
Cryptorchidism Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886
Unknown
Disease term Disease name Evidence References Source
Carpenter Syndrome Carpenter syndrome GenCC
Associations from Text Mining
Disease Name Relationship Type References
Genetic Diseases Inborn Associate 34117072
Neoplasms Inhibit 25993660
Prostatic Neoplasms Associate 25993660