KEGG   Homo sapiens (human): 1954Help
Entry
1954              CDS       T01001                                 

Gene name
MEGF8, C19orf49, CRPT2, EGFL4, SBP1
Definition
(RefSeq) multiple EGF like domains 8
Organism
hsa  Homo sapiens (human)
Disease
H01888  Carpenter syndrome
SSDB OrthologParalogGFIT
Motif
Pfam: Kelch_4 Kelch_3 Kelch_6 Kelch_5 Kelch_1 CUB Laminin_EGF EGF_3 PSI EGF_CA EGF_2 PSI_integrin EGF
Motif
Other DBs
NCBI-GeneID: 1954
NCBI-ProteinID: NP_001258867
OMIM: 604267
HGNC: 3233
Ensembl: ENSG00000105429
Vega: OTTHUMG00000150342
Pharos: Q7Z7M0(Tbio)
UniProt: Q7Z7M0
Position
19q13.2
AA seq 2845 aa AA seqDB search
MALGKVLAMALVLALAVLGSLSPGARAGDCKGQRQVLREAPGFVTDGAGNYSVNGNCEWL
IEAPSPQHRILLDFLFLDTECTYDYLFVYDGDSPRGPLLASLSGSTRPPPIEASSGKMLL
HLFSDANYNLLGFNASFRFSLCPGGCQSHGQCQPPGVCACEPGWGGPDCGLQECSAYCGS
HGTCASPLGPCRCEPGFLGRACDLHLWENQGAGWWHNVSARDPAFSARIGAAGAFLSPPG
LLAVFGGQDLNNALGDLVLYNFSANTWESWDLSPAPAARHSHVAVAWAGSLVLMGGELAD
GSLTNDVWAFSPLGRGHWELLAPPASSSSGPPGLAGHAAALVDDVWLYVSGGRTPHDLFS
SGLFRFRLDSTSGGYWEQVIPAGGRPPAATGHSMVFHAPSRALLVHGGHRPSTARFSVRV
NSTELFHVDRHVWTTLKGRDGLQGPRERAFHTASVLGNYMVVYGGNVHTHYQEEKCYEDG
IFFYHLGCHQWVSGAELAPPGTPEGRAAPPSGRYSHVAAVLGGSVLLVAGGYSGRPRGDL
MAYKVPPFVFQAPAPDYHLDYCSMYTDHSVCSRDPECSWCQGACQAAPPPGTPLGACPAA
SCLGLGRLLGDCQACLAFSSPTAPPRGPGTLGWCVHNESCLPRPEQARCRGEQISGTVGW
WGPAPVFVTSLEACVTQSFLPGLHLLTFQQPPNTSQPDKVSIVRSTTITLTPSAETDVSL
VYRGFIYPMLPGGPGGPGAEDVAVWTRAQRLHVLARMARGPDTENMEEVGRWVAHQEKET
RRLQRPGSARLFPLPGRDHKYAVEIQGQLNGSAGPGHSELTLLWDRTGVPGGSEISFFFL
EPYRSSSCTSYSSCLGCLADQGCGWCLTSATCHLRQGGAHCGDDGAGGSLLVLVPTLCPL
CEEHRDCHACTQDPFCEWHQSTSRKGDAACSRRGRGRGALKSPEECPPLCSQRLTCEDCL
ANSSQCAWCQSTHTCFLFAAYLARYPHGGCRGWDDSVHSEPRCRSCDGFLTCHECLQSHE
CGWCGNEDNPTLGRCLQGDFSGPLGGGNCSLWVGEGLGLPVALPARWAYARCPDVDECRL
GLARCHPRATCLNTPLSYECHCQRGYQGDGISHCNRTCLEDCGHGVCSGPPDFTCVCDLG
WTSDLPPPTPAPGPPAPRCSRDCGCSFHSHCRKRGPGFCDECQDWTWGEHCERCRPGSFG
NATGSRGCRPCQCNGHGDPRRGHCDNLSGLCFCQDHTEGAHCQLCSPGYYGDPRAGGSCF
RECGGRALLTNVSSVALGSRRVGGLLPPGGGAARAGPGLSYCVWVVSATEELQPCAPGTL
CPPLTLTFSPDSSTPCTLSYVLAFDGFPRFLDTGVVQSDRSLIAAFCGQRRDRPLTVQAL
SGLLVLHWEANGSSSWGFNASVGSARCGSGGPGSCPVPQECVPQDGAAGAGLCRCPQGWA
GPHCRMALCPENCNAHTGAGTCNQSLGVCICAEGFGGPDCATKLDGGQLVWETLMDSRLS
ADTASRFLHRLGHTMVDGPDATLWMFGGLGLPQGLLGNLYRYSVSERRWTQMLAGAEDGG
PGPSPRSFHAAAYVPAGRGAMYLLGGLTAGGVTRDFWVLNLTTLQWRQEKAPQTVELPAV
AGHTLTARRGLSLLLVGGYSPENGFNQQLLEYQLATGTWVSGAQSGTPPTGLYGHSAVYH
EATDSLYVFGGFRFHVELAAPSPELYSLHCPDRTWSLLAPSQGAKRDRMRNVRGSSRGLG
QVPGEQPGSWGFREVRKKMALWAALAGTGGFLEEISPHLKEPRPRLFHASALLGDTMVVL
GGRSDPDEFSSDVLLYQVNCNAWLLPDLTRSASVGPPMEESVAHAVAAVGSRLYISGGFG
GVALGRLLALTLPPDPCRLLSSPEACNQSGACTWCHGACLSGDQAHRLGCGGSPCSPMPR
SPEECRRLRTCSECLARHPRTLQPGDGEASTPRCKWCTNCPEGACIGRNGSCTSENDCRI
NQREVFWAGNCSEAACGAADCEQCTREGKCMWTRQFKRTGETRRILSVQPTYDWTCFSHS
LLNVSPMPVESSPPLPCPTPCHLLPNCTSCLDSKGADGGWQHCVWSSSLQQCLSPSYLPL
RCMAGGCGRLLRGPESCSLGCAQATQCALCLRRPHCGWCAWGGQDGGGRCMEGGLSGPRD
GLTCGRPGASWAFLSCPPEDECANGHHDCNETQNCHDQPHGYECSCKTGYTMDNMTGLCR
PVCAQGCVNGSCVEPDHCRCHFGFVGRNCSTECRCNRHSECAGVGARDHCLLCRNHTKGS
HCEQCLPLFVGSAVGGGTCRPCHAFCRGNSHICISRKELQMSKGEPKKYSLDPEEIENWV
TEGPSEDEAVCVNCQNNSYGEKCESCLQGYFLLDGKCTKCQCNGHADTCNEQDGTGCPCQ
NNTETGTCQGSSPSDRRDCYKYQCAKCRESFHGSPLGGQQCYRLISVEQECCLDPTSQTN
CFHEPKRRALGPGRTVLFGVQPKFTNVDIRLTLDVTFGAVDLYVSTSYDTFVVRVAPDTG
VHTVHIQPPPAPPPPPPPADGGPRGAGDPGGAGASSGPGAPAEPRVREVWPRGLITYVTV
TEPSAVLVVRGVRDRLVITYPHEHHALKSSRFYLLLLGVGDPSGPGANGSADSQGLLFFR
QDQAHIDLFVFFSVFFSCFFLFLSLCVLLWKAKQALDQRQEQRRHLQEMTKMASRPFAKV
TVCFPPDPTAPASAWKPAGLPPPAFRRSEPFLAPLLLTGAGGPWGPMGGGCCPPAIPATT
AGLRAGPITLEPTEDGMAGVATLLLQLPGGPHAPNGACLGSALVTLRHRLHEYCGGGGGA
GGSGHGTGAGRKGLLSQDNLTSMSL
NT seq 8538 nt NT seq  +upstreamnt  +downstreamnt
atggccctgggcaaggttctggccatggcactggttttggccttggccgtgctggggtcg
ctgtcccctggggcccgggcgggggactgcaaggggcagcggcaggtgctgcgggaggcg
ccaggcttcgtgacggatggtgcgggcaactacagcgtcaatggcaactgcgagtggctc
atcgaggccccaagcccccagcaccggatcctgctggacttccttttcctggacacagag
tgcacgtatgactacctgttcgtgtatgacggtgactccccgcgagggccgctgcttgcc
agtctaagtgggagcacccgacctccgcccatcgaagcttcctcaggcaagatgctgctg
cacctcttcagtgatgccaactacaacctgctgggctttaacgcctcattccgcttctcc
ctgtgcccgggtggctgccagagccacgggcagtgccagccaccgggtgtgtgtgcctgc
gagccgggctgggggggtcctgactgtggcctgcaggagtgctcagcctactgtggcagc
cacggcacctgcgcctcgcccctgggaccatgccgctgtgagcctggcttcttgggacgt
gcctgtgacctgcacctgtgggagaaccagggggctgggtggtggcacaacgtgagtgcc
agggaccctgccttctctgcccgtattggggcagctggcgccttcctgtccccaccaggg
ctgctggcagttttcggaggccaggacctcaacaatgccctgggtgacctcgtcctatac
aacttctccgccaacacctgggagtcttgggacctgagtcctgccccggctgcccgtcac
tcccatgtggccgtggcctgggccggctccctggtactgatgggtggtgagctggctgac
ggctcgctcaccaacgacgtgtgggccttcagtccactgggcaggggccactgggagctc
ctggcaccacctgcctccagctcctcggggcccccaggcctggcaggtcacgcggctgcc
ctggtggatgatgtctggctatatgtgtctggaggccgcaccccgcacgacctcttctcc
tctggcctcttccgtttccgccttgacagcaccagcgggggctattgggagcaggtgatt
ccggcaggcggacggccccctgctgccactggccactccatggtgttccatgccccctcc
cgtgccctgctggtccatggtggacaccggccctccactgcccggttctctgtgcgagtg
aactccactgagcttttccacgtggatcggcatgtgtggacgacgctgaaggggcgggat
gggcttcagggcccaagggagcgagccttccacacagccagtgttctgggcaattacatg
gtggtctatgggggcaatgtgcacacccattaccaggaggaaaagtgctacgaagatggc
atcttcttctaccaccttggctgccatcaatgggtgtcaggagctgagcttgccccgcca
ggaacccctgagggccgagcagcgcctcccagtggtcggtactcacatgtagctgcggtg
cttggtggcagcgtcctgttggtggctggggggtacagcggccggccccgtggggacttg
atggcgtacaaggtgcccccctttgtgttccaggcacctgcccctgactaccacttggac
tactgctccatgtacacagaccacagcgtctgctcccgggacccggaatgcagttggtgc
caaggagcctgccaagctgcaccccctcctgggacccccttgggggcttgtccagccgcc
agctgcctgggcctgggccgcctcctgggtgactgccaggcctgcctggccttcagcagc
cccacagcccctccacggggacctggcaccctgggctggtgcgtgcacaatgagagctgc
ctccctaggcctgagcaggcccgctgccgaggggagcagatctcaggcactgtgggctgg
tgggggcctgcgcctgtcttcgtcacgtccctggaggcctgcgtcacccagagcttcctg
cctggcctgcacttgctcacctttcagcagccgcccaatacctcccagcctgacaaggtc
tcaattgtccgcagcacgaccatcaccctaacacccagcgcagagacagatgtgtccctg
gtctaccgtggcttcatctacccaatgctgcctggagggccaggtggaccaggggctgag
gacgtggccgtgtggacgcgggcccagcgcctacacgtcctggcccggatggcccgtggc
cctgacacggagaacatggaggaggtggggcgctgggtggctcatcaggagaaggagacg
cggcggctgcagcgccctgggtctgctcgcctcttccctctgcctgggcgggaccacaag
tatgcagtagagatccagggccagctcaatggctcggcaggccctgggcacagcgagcta
actctgctgtgggatcggactggtgtgccaggaggcagcgagatctccttcttcttcctg
gagccctaccgctcgtcgtcctgcacctcctattcttcctgcctgggctgcttggcagac
cagggctgtggctggtgcctgaccagtgccacctgccacctgcgccagggcggagcccat
tgcggggatgacggggctggtgggtccctgctggtgctggtgcctaccctctgcccactc
tgcgaggagcatcgggactgccacgcctgcacccaggaccccttctgtgagtggcatcag
agcaccagccgcaaaggggacgcggcatgcagccggcggggccggggtcggggtgccctg
aagagtccagaggagtgtcccccgctctgcagccagcgactgacctgtgaggactgcctg
gccaactctagccagtgcgcctggtgccagtccacccacacctgcttcctgtttgctgcc
tacttggcccggtacccacacgggggctgtcgaggctgggacgacagtgtacactcggag
ccacggtgccggagctgcgatggcttcctgacctgccatgagtgtctgcagagccacgag
tgtggctggtgtggcaatgaggacaaccccacactgggacggtgcctacagggggacttc
tcagggcccctcggtgggggtaactgctccctgtgggtgggggagggcctggggcttccc
gtggccctccctgcccgctgggcatacgcccgctgtcctgacgtggatgagtgtcgcctg
ggcctggcccggtgccacccgcgggcgacctgcctgaacacgcccctcagctacgagtgt
cactgccagcggggctaccagggtgatggcatctcacactgcaaccgcacgtgcttggag
gactgtggccatggtgtgtgcagtggccccccggactttacctgcgtgtgtgacctaggc
tggacatcagacctgccccctcccacacccgccccgggtccgccagccccccgctgctcc
cgggactgtggctgcagcttccacagccactgccgcaagcggggccctggcttctgcgac
gagtgccaggactggacatggggggagcactgcgaacgatgccggcccggcagcttcggc
aacgccacaggctctaggggctgccggccctgccagtgcaacgggcacggggacccacgc
cgtggccactgcgacaacctcagtgggctctgcttctgccaggaccacaccgagggtgcc
cactgccagctctgctccccaggctattatggggatccccgggccggtggttcctgcttt
cgggagtgtgggggtcgcgccctcctcaccaacgtgtcctcagtggcactgggctcacgc
cgggtcggggggctgctgcctccaggtggcggggctgcaagagccgggcctggcctgtcc
tactgtgtgtgggttgtctcggccactgaggagctacagccctgtgctcccgggaccctc
tgtcccccactcaccctcaccttctcccccgacagcagcaccccctgcacgctgagctac
gtcctggcgtttgatggattcccacgcttcctggacactggtgttgtccagtcggaccgc
agcctcatagctgccttctgcggccagcgacgggacaggcccctcactgttcaggccctg
tctgggctgctcgtgctgcactgggaggccaatggctcctcatcctggggcttcaatgct
tcggtgggctctgcccgctgtgggtcagggggccccgggagctgtcccgtcccccaggaa
tgcgtgccccaggacggtgctgcaggtgcggggctctgccgatgtcctcagggctgggct
ggcccacactgccgcatggctctgtgtcctgagaactgcaatgcccacactggggcagga
acttgtaaccagagcctgggtgtgtgcatctgtgccgagggcttcgggggccccgactgc
gccaccaagctggatggcgggcagctggtctgggagaccctcatggacagccgcctctca
gccgacactgccagccgcttcctgcaccgcctgggccacaccatggtggatggacccgat
gccaccttgtggatgtttgggggcctgggcctgccccaggggctgctgggaaacctgtac
aggtactcagtgagtgagcggcggtggacacagatgctggcgggagccgaggacgggggc
ccaggcccatcgccccgctccttccatgcagccgcatatgtgcccgctggccgtggtgcc
atgtatctgctggggggacttaccgctggaggcgtcacccgtgatttctgggtcctcaac
ctcaccaccctgcaatggcggcaggagaaggccccccagaccgtggagctgccagccgtt
gctggtcacacccttactgcccgccgaggcctgtctctgctcctggtgggcggttactcc
ccggaaaatggcttcaaccagcagctgctggagtaccagctggcaaccggcacctgggtg
tcaggagcccagagtgggacaccccccacaggtctctatggtcactctgctgtctaccac
gaggccaccgactccctctacgtgtttggggggttccgattccatgtggagctggcggcc
ccatcccccgagctctactccctgcactgtcctgaccgcacctggagtctgctggcccct
tctcagggggcaaagcgagatcgtatgaggaatgtgcgtggctcatctcggggtctgggc
caagttcctggggagcagcctgggtcatgggggttccgggaagtcaggaagaagatggct
ctgtgggctgctcttgctggtacaggaggtttcctggaggaaatctcacctcacctgaag
gagccccgcccccggcttttccacgcctcagccctgttaggggacaccatggtggttctt
ggggggcgctcggaccctgacgagttcagcagcgacgttctgctctaccaggtcaactgc
aatgcctggcttctgcccgacctcacccgctcggcctctgtggggcccccaatggaggag
tctgtggcccatgctgtggcagcagtcgggagccgcctgtatatctctgggggtttcggg
ggagtggccctgggccgcctgctggcactgaccctgccccctgacccctgccgcctgctg
tcctcacctgaagcttgtaaccagtctggggcctgcacctggtgccatggggcctgcttg
tccggggatcaggcccacaggctgggctgcgggggctccccctgctccccaatgcctcgc
tccccggaggaatgtcgacgtctccggacctgcagtgagtgcctggcccgccatcctcgg
accctgcaacctggagatggagaggcgtccaccccccgctgtaagtggtgtaccaactgc
cccgaaggtgcttgcattggacgcaatgggtcctgcacctctgagaatgactgtcggatc
aaccagcgagaggtcttctgggcagggaactgctccgaggctgcgtgcggggctgctgac
tgcgagcagtgcacgcgggagggcaagtgcatgtggacgcggcagttcaagaggacaggg
gagacccgccgcatcctctccgtgcagcccacctatgactggacgtgcttcagccactct
ctgctgaatgtgtcccccatgccggtggaatcatcacccccactgccctgccccacccct
tgtcacctcctacccaactgtacctcctgcctggactctaagggagcagatgggggctgg
cagcactgtgtttggagcagcagcctgcagcagtgtctgagcccttcctacctgcccctg
cgatgtatggccggaggctgtgggcggctgctccggggacctgagagctgctccctgggc
tgtgctcaggcaactcagtgcgccttgtgcctgcggcgcccccattgcggctggtgtgcc
tgggggggccaggatgggggtggccgctgcatggagggtggactcagcggcccccgtgat
gggctgacatgtgggcgtccgggggcctcctgggccttcctgtcctgcccccctgaggac
gagtgtgcaaacgggcaccacgactgcaacgagacgcagaattgccacgaccagccccac
ggctatgagtgcagctgcaagaccggctataccatggacaacatgacagggctgtgccgc
cctgtgtgcgcccagggctgcgtgaacggctcatgtgtggagcccgaccactgccgctgc
cactttggctttgtgggccgcaactgctccacggaatgccgctgcaaccgccacagtgaa
tgcgctggtgttggggcgcgtgaccactgcttgctctgccgcaaccacaccaagggcagc
cactgtgagcagtgcctcccgctgtttgtgggttcagctgtcggaggcgggacctgccgg
ccctgccacgccttttgtcgtggaaatagccacatctgcatctccaggaaggagttacaa
atgtccaagggagagccaaagaagtactcactggacccagaggagattgaaaactgggtg
acagagggtcctagtgaagacgaggccgtgtgcgtgaactgccagaataacagctatggg
gagaaatgcgagagctgcctgcagggctacttcctcctggacgggaagtgcaccaaatgc
cagtgtaatggccacgcggacacatgtaacgagcaggatgggacgggctgtccatgtcag
aataacacagagacgggcacatgccagggcagctcccccagtgaccgtcgagactgctac
aagtaccagtgcgccaagtgccgggaatcatttcacgggagtccgctgggcggccagcag
tgctaccgcctcatctcggtggagcaggagtgctgcctggaccccacgtcccagaccaac
tgcttccatgagcccaaacgccgggcgctaggccccggccgcactgtcctctttggcgtg
cagcccaaattcaccaacgtggacatccgcctgacgctggacgtgaccttcggggccgtg
gacctctatgtctccacctcctatgacaccttcgtggtccgtgtggcccctgacactggc
gtccatactgtacacatccagccacccccagccccaccacctccaccaccccctgcagat
ggtgggccccggggggctggggatccaggaggagcaggggccagcagtgggccgggcgcc
ccagcagagccacgggtacgggaggtatggccgcggggcctgattacctacgtgacggtg
acggagccgtcggcagtgctggtggtccgcggcgtgcgggaccggctggtcatcacctac
ccacacgagcaccatgccctcaagtcgagccgcttctacctgctgctgctgggcgtggga
gacccaagtgggcccggcgccaacggctcagccgactcgcagggcctgctcttcttccgg
caggaccaggcccacattgacctgtttgtcttcttctccgtcttcttctcctgcttcttc
ctcttcctctcactctgtgtgctcctctggaaggccaagcaggctctggaccagcggcag
gagcagcgccggcacttgcaggagatgaccaagatggccagccgccccttcgccaaggtc
accgtctgcttcccacctgaccctactgccccggcctccgcctggaagccggctgggctc
ccacctcccgccttccgccgctctgagcccttcctggcacccctgctgctgacaggggcc
ggtgggccctggggacccatgggagggggctgctgcccaccagccatccccgccaccact
gctgggctgcgagctgggcccatcactctcgagcccacagaagatggcatggctggcgtg
gccacactgctgctccagctgcctggcgggccccatgcacccaacggcgcctgcctgggg
tcagccctcgtcacactgcggcacaggctgcacgagtactgtgggggtggtgggggtgct
gggggcagtgggcatgggactggtgcgggccggaagggactgttgagccaggacaacctc
accagcatgtccctctga

  All links  
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (125)   
   RefGene (117)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   UniGene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (4)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (2)   
DNA sequence (23)   
   RefSeq(nuc) (3)   
   GenBank (10)   
   EMBL (10)   
Protein domain (13)   
   Pfam (13)   
All databases (169)   

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