Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q7Z7M0 (MEGF8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 113. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Multiple epidermal growth factor-like domains protein 8

Short name=Multiple EGF-like domains protein 8
Alternative name(s):
Epidermal growth factor-like protein 4
Short name=EGF-like protein 4
Gene names
Name:MEGF8
Synonyms:C19orf49, EGFL4, KIAA0817
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length2845 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Subcellular location

Membrane; Single-pass type I membrane protein Potential.

Involvement in disease

Carpenter syndrome 2 (CRPT2) [MIM:614976]: An autosomal recessive multiple congenital malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism, and congenital heart disease.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7

Sequence similarities

Contains 2 CUB domains.

Contains 5 EGF-like domains.

Contains 12 Kelch repeats.

Contains 4 laminin EGF-like domains.

Contains 7 PSI domains.

Sequence caution

The sequence AAP35084.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

The sequence BAA32469.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
   Cellular componentMembrane
   Coding sequence diversityAlternative splicing
   DiseaseCraniosynostosis
Disease mutation
   DomainEGF-like domain
Kelch repeat
Laminin EGF-like domain
Repeat
Signal
Transmembrane
Transmembrane helix
   LigandCalcium
   PTMDisulfide bond
Glycoprotein
Phosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processBMP signaling pathway

Inferred from sequence or structural similarity. Source: UniProt

cell migration involved in gastrulation

Inferred from mutant phenotype Ref.7. Source: UniProt

craniofacial suture morphogenesis

Inferred from mutant phenotype Ref.7. Source: UniProt

determination of digestive tract left/right asymmetry

Inferred from sequence or structural similarity. Source: UniProt

determination of heart left/right asymmetry

Inferred from mutant phenotype Ref.7. Source: UniProt

embryonic heart tube left/right pattern formation

Inferred from sequence or structural similarity. Source: UniProt

embryonic heart tube morphogenesis

Inferred from sequence or structural similarity. Source: UniProt

embryonic limb morphogenesis

Inferred from sequence or structural similarity. Source: UniProt

embryonic skeletal system morphogenesis

Inferred from sequence or structural similarity. Source: UniProt

epiboly involved in gastrulation with mouth forming second

Inferred from mutant phenotype Ref.7. Source: UniProt

fasciculation of sensory neuron axon

Inferred from sequence or structural similarity. Source: UniProt

left/right pattern formation

Inferred from mutant phenotype Ref.7. Source: UniProt

limb morphogenesis

Inferred from mutant phenotype Ref.7. Source: UniProt

positive regulation of axon extension involved in axon guidance

Inferred from sequence or structural similarity. Source: UniProt

regulation of gene expression

Inferred from sequence or structural similarity. Source: UniProt

   Cellular_componentextracellular vesicular exosome

Inferred from direct assay PubMed 19056867. Source: UniProt

integral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

nucleus

Inferred from sequence or structural similarity. Source: UniProt

   Molecular_functioncalcium ion binding

Inferred from electronic annotation. Source: InterPro

receptor activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

ATXN7O152652EBI-947617,EBI-708350
CACNA1AO005552EBI-947617,EBI-766279

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q7Z7M0-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q7Z7M0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     700-766: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2727 Potential
Chain28 – 28452818Multiple epidermal growth factor-like domains protein 8
PRO_0000055629

Regions

Topological domain28 – 26472620Extracellular Potential
Transmembrane2648 – 266821Helical; Potential
Topological domain2669 – 2845177Cytoplasmic Potential
Domain30 – 140111CUB 1
Domain138 – 16831EGF-like 1
Domain170 – 20334EGF-like 2
Repeat241 – 28747Kelch 1
Repeat290 – 33849Kelch 2
Repeat346 – 39954Kelch 3
Repeat402 – 45352Kelch 4
Repeat459 – 51153Kelch 5
Repeat525 – 57551Kelch 6
Domain561 – 61353PSI 1
Domain847 – 89953PSI 2
Domain900 – 94748PSI 3
Domain1074 – 111542EGF-like 3; calcium-binding Potential
Domain1163 – 121048Laminin EGF-like 1
Domain1211 – 126151Laminin EGF-like 2
Domain1263 – 1405143CUB 2
Domain1403 – 144543EGF-like 4
Repeat1522 – 157049Kelch 7
Repeat1580 – 162647Kelch 8
Repeat1632 – 167948Kelch 9
Repeat1685 – 173551Kelch 10
Repeat1796 – 184348Kelch 11
Repeat1852 – 189847Kelch 12
Domain1876 – 191641PSI 4
Domain1924 – 197956PSI 5
Domain2060 – 211859PSI 6
Domain2120 – 217758PSI 7
Domain2178 – 221639EGF-like 5
Domain2253 – 230149Laminin EGF-like 3
Domain2380 – 244364Laminin EGF-like 4
Compositional bias2528 – 256437Pro-rich
Compositional bias2739 – 283395Gly-rich

Amino acid modifications

Modified residue13531Phosphothreonine By similarity
Glycosylation501N-linked (GlcNAc...) Potential
Glycosylation2171N-linked (GlcNAc...) Potential
Glycosylation10481N-linked (GlcNAc...) Potential
Glycosylation12711N-linked (GlcNAc...) Ref.6
Glycosylation20661N-linked (GlcNAc...) Potential
Glycosylation22291N-linked (GlcNAc...) Potential
Disulfide bond30 ↔ 57 By similarity
Disulfide bond142 ↔ 152 By similarity
Disulfide bond146 ↔ 158 By similarity
Disulfide bond174 ↔ 184 By similarity
Disulfide bond178 ↔ 191 By similarity
Disulfide bond193 ↔ 202 By similarity
Disulfide bond1078 ↔ 1091 By similarity
Disulfide bond1085 ↔ 1100 By similarity
Disulfide bond1102 ↔ 1114 By similarity
Disulfide bond1163 ↔ 1171 By similarity
Disulfide bond1165 ↔ 1179 By similarity
Disulfide bond1182 ↔ 1191 By similarity
Disulfide bond1194 ↔ 1208 By similarity
Disulfide bond1211 ↔ 1224 By similarity
Disulfide bond1213 ↔ 1231 By similarity
Disulfide bond1233 ↔ 1242 By similarity
Disulfide bond1245 ↔ 1259 By similarity
Disulfide bond1263 ↔ 1302 By similarity
Disulfide bond1336 ↔ 1367 By similarity
Disulfide bond1407 ↔ 1421 By similarity
Disulfide bond1415 ↔ 1433 By similarity
Disulfide bond1435 ↔ 1444 By similarity
Disulfide bond2182 ↔ 2195 By similarity
Disulfide bond2189 ↔ 2204 By similarity
Disulfide bond2253 ↔ 2261 By similarity
Disulfide bond2255 ↔ 2270 By similarity
Disulfide bond2273 ↔ 2282 By similarity
Disulfide bond2285 ↔ 2299 By similarity
Disulfide bond2380 ↔ 2389 By similarity
Disulfide bond2382 ↔ 2397 By similarity
Disulfide bond2399 ↔ 2424 By similarity
Disulfide bond2427 ↔ 2441 By similarity

Natural variations

Alternative sequence700 – 76667Missing in isoform 2.
VSP_036067
Natural variant1991G → R in CRPT2. Ref.7
VAR_069305
Natural variant15661R → H in CRPT2. Ref.7
VAR_069306
Natural variant24341S → G in CRPT2. Ref.7
VAR_069307

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified December 16, 2008. Version 2.
Checksum: DDBF0EE07511587D

FASTA2,845303,100
        10         20         30         40         50         60 
MALGKVLAMA LVLALAVLGS LSPGARAGDC KGQRQVLREA PGFVTDGAGN YSVNGNCEWL 

        70         80         90        100        110        120 
IEAPSPQHRI LLDFLFLDTE CTYDYLFVYD GDSPRGPLLA SLSGSTRPPP IEASSGKMLL 

       130        140        150        160        170        180 
HLFSDANYNL LGFNASFRFS LCPGGCQSHG QCQPPGVCAC EPGWGGPDCG LQECSAYCGS 

       190        200        210        220        230        240 
HGTCASPLGP CRCEPGFLGR ACDLHLWENQ GAGWWHNVSA RDPAFSARIG AAGAFLSPPG 

       250        260        270        280        290        300 
LLAVFGGQDL NNALGDLVLY NFSANTWESW DLSPAPAARH SHVAVAWAGS LVLMGGELAD 

       310        320        330        340        350        360 
GSLTNDVWAF SPLGRGHWEL LAPPASSSSG PPGLAGHAAA LVDDVWLYVS GGRTPHDLFS 

       370        380        390        400        410        420 
SGLFRFRLDS TSGGYWEQVI PAGGRPPAAT GHSMVFHAPS RALLVHGGHR PSTARFSVRV 

       430        440        450        460        470        480 
NSTELFHVDR HVWTTLKGRD GLQGPRERAF HTASVLGNYM VVYGGNVHTH YQEEKCYEDG 

       490        500        510        520        530        540 
IFFYHLGCHQ WVSGAELAPP GTPEGRAAPP SGRYSHVAAV LGGSVLLVAG GYSGRPRGDL 

       550        560        570        580        590        600 
MAYKVPPFVF QAPAPDYHLD YCSMYTDHSV CSRDPECSWC QGACQAAPPP GTPLGACPAA 

       610        620        630        640        650        660 
SCLGLGRLLG DCQACLAFSS PTAPPRGPGT LGWCVHNESC LPRPEQARCR GEQISGTVGW 

       670        680        690        700        710        720 
WGPAPVFVTS LEACVTQSFL PGLHLLTFQQ PPNTSQPDKV SIVRSTTITL TPSAETDVSL 

       730        740        750        760        770        780 
VYRGFIYPML PGGPGGPGAE DVAVWTRAQR LHVLARMARG PDTENMEEVG RWVAHQEKET 

       790        800        810        820        830        840 
RRLQRPGSAR LFPLPGRDHK YAVEIQGQLN GSAGPGHSEL TLLWDRTGVP GGSEISFFFL 

       850        860        870        880        890        900 
EPYRSSSCTS YSSCLGCLAD QGCGWCLTSA TCHLRQGGAH CGDDGAGGSL LVLVPTLCPL 

       910        920        930        940        950        960 
CEEHRDCHAC TQDPFCEWHQ STSRKGDAAC SRRGRGRGAL KSPEECPPLC SQRLTCEDCL 

       970        980        990       1000       1010       1020 
ANSSQCAWCQ STHTCFLFAA YLARYPHGGC RGWDDSVHSE PRCRSCDGFL TCHECLQSHE 

      1030       1040       1050       1060       1070       1080 
CGWCGNEDNP TLGRCLQGDF SGPLGGGNCS LWVGEGLGLP VALPARWAYA RCPDVDECRL 

      1090       1100       1110       1120       1130       1140 
GLARCHPRAT CLNTPLSYEC HCQRGYQGDG ISHCNRTCLE DCGHGVCSGP PDFTCVCDLG 

      1150       1160       1170       1180       1190       1200 
WTSDLPPPTP APGPPAPRCS RDCGCSFHSH CRKRGPGFCD ECQDWTWGEH CERCRPGSFG 

      1210       1220       1230       1240       1250       1260 
NATGSRGCRP CQCNGHGDPR RGHCDNLSGL CFCQDHTEGA HCQLCSPGYY GDPRAGGSCF 

      1270       1280       1290       1300       1310       1320 
RECGGRALLT NVSSVALGSR RVGGLLPPGG GAARAGPGLS YCVWVVSATE ELQPCAPGTL 

      1330       1340       1350       1360       1370       1380 
CPPLTLTFSP DSSTPCTLSY VLAFDGFPRF LDTGVVQSDR SLIAAFCGQR RDRPLTVQAL 

      1390       1400       1410       1420       1430       1440 
SGLLVLHWEA NGSSSWGFNA SVGSARCGSG GPGSCPVPQE CVPQDGAAGA GLCRCPQGWA 

      1450       1460       1470       1480       1490       1500 
GPHCRMALCP ENCNAHTGAG TCNQSLGVCI CAEGFGGPDC ATKLDGGQLV WETLMDSRLS 

      1510       1520       1530       1540       1550       1560 
ADTASRFLHR LGHTMVDGPD ATLWMFGGLG LPQGLLGNLY RYSVSERRWT QMLAGAEDGG 

      1570       1580       1590       1600       1610       1620 
PGPSPRSFHA AAYVPAGRGA MYLLGGLTAG GVTRDFWVLN LTTLQWRQEK APQTVELPAV 

      1630       1640       1650       1660       1670       1680 
AGHTLTARRG LSLLLVGGYS PENGFNQQLL EYQLATGTWV SGAQSGTPPT GLYGHSAVYH 

      1690       1700       1710       1720       1730       1740 
EATDSLYVFG GFRFHVELAA PSPELYSLHC PDRTWSLLAP SQGAKRDRMR NVRGSSRGLG 

      1750       1760       1770       1780       1790       1800 
QVPGEQPGSW GFREVRKKMA LWAALAGTGG FLEEISPHLK EPRPRLFHAS ALLGDTMVVL 

      1810       1820       1830       1840       1850       1860 
GGRSDPDEFS SDVLLYQVNC NAWLLPDLTR SASVGPPMEE SVAHAVAAVG SRLYISGGFG 

      1870       1880       1890       1900       1910       1920 
GVALGRLLAL TLPPDPCRLL SSPEACNQSG ACTWCHGACL SGDQAHRLGC GGSPCSPMPR 

      1930       1940       1950       1960       1970       1980 
SPEECRRLRT CSECLARHPR TLQPGDGEAS TPRCKWCTNC PEGACIGRNG SCTSENDCRI 

      1990       2000       2010       2020       2030       2040 
NQREVFWAGN CSEAACGAAD CEQCTREGKC MWTRQFKRTG ETRRILSVQP TYDWTCFSHS 

      2050       2060       2070       2080       2090       2100 
LLNVSPMPVE SSPPLPCPTP CHLLPNCTSC LDSKGADGGW QHCVWSSSLQ QCLSPSYLPL 

      2110       2120       2130       2140       2150       2160 
RCMAGGCGRL LRGPESCSLG CAQATQCALC LRRPHCGWCA WGGQDGGGRC MEGGLSGPRD 

      2170       2180       2190       2200       2210       2220 
GLTCGRPGAS WAFLSCPPED ECANGHHDCN ETQNCHDQPH GYECSCKTGY TMDNMTGLCR 

      2230       2240       2250       2260       2270       2280 
PVCAQGCVNG SCVEPDHCRC HFGFVGRNCS TECRCNRHSE CAGVGARDHC LLCRNHTKGS 

      2290       2300       2310       2320       2330       2340 
HCEQCLPLFV GSAVGGGTCR PCHAFCRGNS HICISRKELQ MSKGEPKKYS LDPEEIENWV 

      2350       2360       2370       2380       2390       2400 
TEGPSEDEAV CVNCQNNSYG EKCESCLQGY FLLDGKCTKC QCNGHADTCN EQDGTGCPCQ 

      2410       2420       2430       2440       2450       2460 
NNTETGTCQG SSPSDRRDCY KYQCAKCRES FHGSPLGGQQ CYRLISVEQE CCLDPTSQTN 

      2470       2480       2490       2500       2510       2520 
CFHEPKRRAL GPGRTVLFGV QPKFTNVDIR LTLDVTFGAV DLYVSTSYDT FVVRVAPDTG 

      2530       2540       2550       2560       2570       2580 
VHTVHIQPPP APPPPPPPAD GGPRGAGDPG GAGASSGPGA PAEPRVREVW PRGLITYVTV 

      2590       2600       2610       2620       2630       2640 
TEPSAVLVVR GVRDRLVITY PHEHHALKSS RFYLLLLGVG DPSGPGANGS ADSQGLLFFR 

      2650       2660       2670       2680       2690       2700 
QDQAHIDLFV FFSVFFSCFF LFLSLCVLLW KAKQALDQRQ EQRRHLQEMT KMASRPFAKV 

      2710       2720       2730       2740       2750       2760 
TVCFPPDPTA PASAWKPAGL PPPAFRRSEP FLAPLLLTGA GGPWGPMGGG CCPPAIPATT 

      2770       2780       2790       2800       2810       2820 
AGLRAGPITL EPTEDGMAGV ATLLLQLPGG PHAPNGACLG SALVTLRHRL HEYCGGGGGA 

      2830       2840 
GGSGHGTGAG RKGLLSQDNL TSMSL 

« Hide

Isoform 2 [UniParc].

Checksum: 73F2F7537697D450
Show »

FASTA2,778295,934

References

« Hide 'large scale' references
[1]"Identification of high-molecular-weight proteins with multiple EGF-like motifs by motif-trap screening."
Nakayama M., Nakajima D., Nagase T., Nomura N., Seki N., Ohara O.
Genomics 51:27-34(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
Tissue: Brain.
[2]Nakayama M., Nakajima D., Nagase T., Nomura N., Seki N., Ohara O.
Submitted (FEB-2005) to the EMBL/GenBank/DDBJ databases
Cited for: SEQUENCE REVISION.
[3]"The DNA sequence and biology of human chromosome 19."
Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. expand/collapse author list , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
[5]"Cloning, characterization and location of a novel human gene containing an EGF domain."
Shan Y.X., Yu L.
Submitted (APR-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 416-2845 (ISOFORM 1).
[6]"Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry."
Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E., Moore R.J., Smith R.D.
J. Proteome Res. 4:2070-2080(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-1271.
Tissue: Plasma.
[7]"Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization."
Twigg S.R., Lloyd D., Jenkins D., Elcioglu N.E., Cooper C.D., Al-Sannaa N., Annagur A., Gillessen-Kaesbach G., Huning I., Knight S.J., Goodship J.A., Keavney B.D., Beales P.L., Gileadi O., McGowan S.J., Wilkie A.O.
Am. J. Hum. Genet. 91:897-905(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CRPT2 ARG-199; HIS-1566 AND GLY-2434.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB011541 mRNA. Translation: BAA32469.2. Different initiation.
AC011497 Genomic DNA. No translation available.
AC024078 Genomic DNA. No translation available.
BC153880 mRNA. Translation: AAI53881.1.
AY280362 mRNA. Translation: AAP35084.1. Different initiation.
PIRT00209.
RefSeqNP_001258867.1. NM_001271938.1.
NP_001401.2. NM_001410.2.
UniGeneHs.132483.

3D structure databases

ProteinModelPortalQ7Z7M0.
SMRQ7Z7M0. Positions 39-203, 210-395, 1065-1259, 1431-1480, 2203-2250, 2252-2437.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid108274. 6 interactions.
IntActQ7Z7M0. 8 interactions.
MINTMINT-2808456.
STRING9606.ENSP00000334219.

PTM databases

PhosphoSiteQ7Z7M0.

Polymorphism databases

DMDM218511690.

Proteomic databases

PaxDbQ7Z7M0.
PRIDEQ7Z7M0.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000251268; ENSP00000251268; ENSG00000105429. [Q7Z7M0-1]
ENST00000334370; ENSP00000334219; ENSG00000105429. [Q7Z7M0-2]
GeneID1954.
KEGGhsa:1954.
UCSCuc002otl.4. human. [Q7Z7M0-2]
uc002otm.5. human. [Q7Z7M0-1]

Organism-specific databases

CTD1954.
GeneCardsGC19P042829.
HGNCHGNC:3233. MEGF8.
HPAHPA049248.
MIM604267. gene.
614976. phenotype.
neXtProtNX_Q7Z7M0.
Orphanet65759. Carpenter syndrome.
PharmGKBPA27666.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG304142.
HOGENOMHOG000113554.
HOVERGENHBG108128.
OMAGHSMVFH.
OrthoDBEOG7J9VRK.
PhylomeDBQ7Z7M0.
TreeFamTF321873.

Enzyme and pathway databases

SignaLinkQ7Z7M0.

Gene expression databases

ArrayExpressQ7Z7M0.
BgeeQ7Z7M0.
CleanExHS_MEGF8.
GenevestigatorQ7Z7M0.

Family and domain databases

Gene3D2.120.10.80. 3 hits.
2.60.120.290. 1 hit.
InterProIPR000859. CUB_dom.
IPR000742. EG-like_dom.
IPR001881. EGF-like_Ca-bd_dom.
IPR013032. EGF-like_CS.
IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
IPR018097. EGF_Ca-bd_CS.
IPR002049. EGF_laminin.
IPR015915. Kelch-typ_b-propeller.
IPR016201. Plexin-like_fold.
IPR002165. Plexin_repeat.
[Graphical view]
PfamPF00431. CUB. 1 hit.
PF07645. EGF_CA. 1 hit.
PF00053. Laminin_EGF. 3 hits.
PF01437. PSI. 1 hit.
[Graphical view]
SMARTSM00042. CUB. 1 hit.
SM00181. EGF. 6 hits.
SM00179. EGF_CA. 1 hit.
SM00180. EGF_Lam. 1 hit.
SM00423. PSI. 9 hits.
[Graphical view]
SUPFAMSSF49854. SSF49854. 1 hit.
PROSITEPS00010. ASX_HYDROXYL. 2 hits.
PS01180. CUB. 2 hits.
PS00022. EGF_1. 6 hits.
PS01186. EGF_2. 7 hits.
PS50026. EGF_3. 4 hits.
PS01187. EGF_CA. 1 hit.
PS01248. EGF_LAM_1. 4 hits.
PS50027. EGF_LAM_2. 4 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSMEGF8. human.
GenomeRNAi1954.
NextBio7919.
PROQ7Z7M0.
SOURCESearch...

Entry information

Entry nameMEGF8_HUMAN
AccessionPrimary (citable) accession number: Q7Z7M0
Secondary accession number(s): A8KAY0, O75097
Entry history
Integrated into UniProtKB/Swiss-Prot: April 13, 2004
Last sequence update: December 16, 2008
Last modified: April 16, 2014
This is version 113 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM