| Tag | Content |
|---|---|
| Uniprot ID | Q86UK5; Q86YT3; Q86YT4; Q8NG49; |
| Entrez ID | 132884 |
| Genbank protein ID | BAC06590.1; AAN86578.1; AAN86577.1; AAO22066.1; |
| Genbank nucleotide ID | NM_001166136.1; NM_147127.4; XM_017007737.1; XM_017007736.1; |
| Ensembl protein ID | ENSP00000311683; ENSP00000342144; |
| Ensembl nucleotide ID | ENSG00000173040 |
| Gene name | Limbin |
| Gene symbol | EVC2 |
| Organism | Homo sapiens |
| NCBI taxa ID | 9606 |
| Cleft type | |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 20087401 |
| Functional description | Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Plays a critical role in bone formation and skeletal development. May be involved in early embryonic morphogenesis. |
| Sequence | MDPSGSRGRP TWVLAGGLLA VALALGGRGC LGASSRPRWR PLGAQPPRDP QVAPRSGPGL 60 RIPPGRSGAG PESSTQDLPC MIWPKVECCH FKTAVEAPLG MKLDKKMEVF IPLSTSAASS 120 GPWAHSLFAF IPSWPKKNLF KRESPITHRL YGDISREVQG TSENGVIFQK CALVSGSSEA 180 QTARIWLLVN NTKTTSSANL SELLLLDSIA GLTIWDSVGN RTSEGFQAFS KKFLQVGDAF 240 AVSYAATLQA GDLGNGESLK LPAQLTFQSS SRNRTQLKVL FSITAEENVT VLPHHGLHAA 300 GFFIAFLLSL VLTWAALFLM VRYQCLKGNM LTRHRVWQYE SKLEPLPFTS ADGVNEDLSL 360 NDQMIDILSS EDPGSMLQAL EELEIATLNR ADADLEACRT QISKDIIALL LKNLTSSGHL 420 SPQVERKMSA VFKKQFLLLE NEIQEEYDRK MVALTAECDL ETRKKMENQY QREMMAMEEA 480 EELLKRAGER SAVECSNLLR TLHGLEQEHL RKSLALQQEE DFAKAHRQLA VFQRNELHSI 540 FFTQIKSAIF KGELKPEAAK MLLQNYSKIQ ENVEELMDFF QASKRYHLSK RFGHREYLVQ 600 NLQSSETRVQ GLLSTAAAQL THLIQKHERA GYLDEDQMEM LLERAQTEVF SIKQKLDNDL 660 KQEKKKLHQK LITKRRRELL QKHREQRREQ ASVGEAFRTV EDAGQYLHQK RSLMEEHGAT 720 LEELQERLDQ AALDDLRTLT LSLFEKATDE LRRLQNSAMT QELLKRGVPW LFLQQILEEH 780 GKEMAARAEQ LEGEERDRDQ EGVQSVRQRL KDDAPEAVTE EQAELRRWEH LIFMKLCSSV 840 FSLSEEELLR MRQEVHGCFA QMDRSLALPK IRARVLLQQF QTAWREAEFV KLDQAVAAPE 900 LQQQSKVRKS RSKSKSKGEL LKKCIEDKIH LCEEQASEDL VEKVRGELLR ERVQRMEAQE 960 GGFAQSLVAL QFQKASRVTE TLSAYTALLS IQDLLLEELS ASEMLTKSAC TQILESHSRE 1020 LQELERKLED QLVQQEAAQQ QQALASWQQW VADGPGILNE PGEVDSERQV STVLHQALSK 1080 SQTLLEQHQQ CLREEQQNSV VLEDLLENME ADTFATLCSQ ELRLASYLAR MAMVPGATLR 1140 RLLSVVLPTA SQPQLLALLD SATERHVDHA AESDGGAEQA DVGRRRKHQS WWQALDGKLR 1200 GDLISRGLEK MLWARKRKQS ILKKTCLPLR ERMIFSGKGS WPHLSLEPIG ELAPVPIVGA 1260 ETIDLLNTGE KLFIFRNPKE PEISLHVPPR KKKNFLNAKK AMRALGMD 1308 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.