CleftGeneDB-Search

Gene: Evc2

Basic information

Tag	Content
Uniprot ID	Q8K1G2; Q8BRF3;
Entrez ID	68525
Genbank protein ID	BAC32167.1; BAC06589.1; AAH37473.1; AAH64473.1;
Genbank nucleotide ID	NM_145920.3
Ensembl protein ID	ENSMUSP00000055130
Ensembl nucleotide ID	ENSMUSG00000050248
Gene name	Limbin
Gene symbol	Evc2
Organism	Mus musculus
NCBI taxa ID	10090
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling (PubMed:21356043, PubMed:24582806). Plays a critical role in bone formation and skeletal development (PubMed:21356043). May be involved in early embryonic morphogenesis (PubMed:21356043).
Sequence	MGATGPTGAG GRATWVLAGN ILAAALVLGS GPRALPPSFP ALGPGSPSRP GPAGPWASSQ 60 YSDISREARG PFENGVIFQK CSLVSGQSES QTMHVQLSVN NTRTPTSVNL SNLLVLDEIT 120 GLAVKESPGN NTQDGIQTFR KSFLQVGECY SVSYTASLDP TALGTGESLD LPARLIFQSP 180 SQNRTQLKAP FTITVEEKIM VLPNHGLHAA GFIAAFLISL LLTVAALFFL ARGRCLQGGM 240 LSRCRIQHPE NKLEPSPFTS ANGVSQDLSL NDQVVAILTS EEPGSMLQAL EELEIATLNQ 300 ADADLEACRN QISKDIIALL MKNLVSGGHL SPQTERKMAA AFKKQFLLLE NEIQEEYERK 360 MLALTAECDL EMRKKTENQY QREMVAMEEA EEVLKRVSER SAAECSSLLR TLHGLEQEDM 420 QRSLTLDQAE DFAQAHRQLA VFQRNELHSI VYTQIQSAVS KGELRPEVAK MMLQDYSKTQ 480 ESVEELMDFF QATKRYHLSK RFGHREYLVQ RLQAMETRVQ GLLNTAATQL TSLIHKHERA 540 GYLDEDQMET LLERAQTETF SIKQKLDNDL KQEKKRLHQR LITRRRRELL QKHKEQQKEQ 600 VSLGEASSTA EDAVQYLHQW RSVMAEHTAA LEELQERLDQ AALDDLRVLT VSLSEKATEE 660 LRRLQSTAMT QELLKRSAPW LFLQQILEEH SRESAARTTQ LEAEERERGQ ELVQGVRQRL 720 QQDALEAYTE EQAELRHWEH LVFMKLCCAA ISLSEEDLLR VRQEAQGCFS QLDRSLALPR 780 VRARVLQQQA QMAWREAEFR KLDQALAAPE LQSKARKLRS KGRGKADLLK KNLEDKIRLF 840 EERAPVELAD QVRGELLQER VQRLEAQEAH FAESLVALQF QKVARAAETL SVYTALLSIQ 900 DLLLGELSES ETLTKSACVQ ILESHRPELQ ELQELERKLE DQLVQQEEAE QQRVLESWQR 960 WAADGPGLSE PEEMDPERQV SAILRQALNK GQKLLEQHQQ RVREEWQNGA VLEDSLESIE 1020 ADTMASLCSQ GLRLVSYLSR MTMVPGSTLL RLLSVVLPAA SQPQLLALLD AVSEKHSDHT 1080 AENESSGEQA QAEQSKRRKH QVWWKVLDSR FRADLVSQGL ERMLWARQKK ERILKKIYVP 1140 VQERVMFPGK GSWPHLSLEP IGELAPIPIT GADAMDILNT GEKIFVFRSP REPEISLRVP 1200 PRRKKNFLNA KKANRALGLD

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.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Species	Evidence	Details
1:1 ortholog	EVC2		F1PZ45	Canis lupus familiaris	Prediction	More>>
1:1 ortholog	EVC2		A0A452ELR2	Capra hircus	Prediction	More>>
1:1 ortholog	EVC2	132884	Q86UK5	Homo sapiens	Publication	More>>
1:1 ortholog	Evc2	68525	Q8K1G2	Mus musculus	Prediction	More>>
1:1 ortholog	EVC2	461676	A0A2I3S1F9	Pan troglodytes	Prediction	More>>
1:1 ortholog	Evc2	289711	D3ZWN3	Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs48592620	p.Ala23Thr	missense variant	-	NC_000071.6:g.37338614G>A	UniProt
rs47046935	p.Ser30Ala	missense variant	-	NC_000071.6:g.37338635T>G	UniProt
rs221664547	p.Ser58Asn	missense variant	-	NC_000071.6:g.37338720G>A	UniProt
rs47884812	p.Glu73Lys	missense variant	-	NC_000071.6:g.37347476G>A	UniProt
rs215847212	p.Val115Met	missense variant	-	NC_000071.6:g.37348681G>A	UniProt
rs51481621	p.Val201Leu	missense variant	-	NC_000071.6:g.37357400G>C	UniProt
rs47517768	p.Ile213Met	missense variant	-	NC_000071.6:g.37357438C>G	UniProt
rs46037801	p.Ala214Val	missense variant	-	NC_000071.6:g.37357440C>T	UniProt
rs45683716	p.Val224Leu	missense variant	-	NC_000071.6:g.37357469G>T	UniProt
rs46030434	p.Met240Val	missense variant	-	NC_000071.6:g.37357517A>G	UniProt
rs50530028	p.Arg584Lys	missense variant	-	NC_000071.6:g.37383212G>A	UniProt
rs33500242	p.Leu725Pro	missense variant	-	NC_000071.6:g.37387082T>C	UniProt
rs51441347	p.Leu735Met	missense variant	-	NC_000071.6:g.37387111C>A	UniProt
rs46302469	p.Arg800Gln	missense variant	-	NC_000071.6:g.37392160G>A	UniProt
rs235071656	p.Ser908Gly	missense variant	-	NC_000071.6:g.37410402A>G	UniProt
rs261048186	p.Ser969Arg	missense variant	-	NC_000071.6:g.37415852C>A	UniProt
rs1134996490	p.Gly1009Ser	missense variant	-	NC_000071.6:g.37417427G>A	UniProt
rs47533387	p.Ile1019Met	missense variant	-	NC_000071.6:g.37417459T>G	UniProt
rs47468688	p.Leu1052Phe	missense variant	-	NC_000071.6:g.37419187C>T	UniProt
rs45915710	p.His1076Tyr	missense variant	-	NC_000071.6:g.37419259C>T	UniProt
rs33220874	p.Ser1086Gly	missense variant	-	NC_000071.6:g.37419289A>G	UniProt
rs256080599	p.Ser1095Gly	missense variant	-	NC_000071.6:g.37419316A>G	UniProt
rs221919626	p.Val1102Gly	missense variant	-	NC_000071.6:g.37421849T>G	UniProt
rs33730442	p.Val1106Ala	missense variant	-	NC_000071.6:g.37421861T>C	UniProt
rs50583619	p.Gln1128Arg	missense variant	-	NC_000071.6:g.37421927A>G	UniProt
rs242976877	p.Arg1132Ser	missense variant	-	NC_000071.6:g.37421938C>A	UniProt
rs50595002	p.Pro1190Ser	missense variant	-	NC_000071.6:g.37424581C>T	UniProt

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005515	protein binding	IPI

GO:Biological Process

GO ID	GO Term	Evidence
GO:0007224	smoothened signaling pathway	IMP

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005634	nucleus	IDA
GO:0005737	cytoplasm	IEA
GO:0005856	cytoskeleton	IEA
GO:0005929	cilium	IDA
GO:0016021	integral component of membrane	IEA
GO:0060170	ciliary membrane	IDA
GO:0060170	ciliary membrane	TAS
GO:0098797	plasma membrane protein complex	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-MMU-162582	Signal Transduction	IEA
R-MMU-5358351	Signaling by Hedgehog	IEA
R-MMU-5632684	Hedgehog 'on' state	IEA

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-1003	Cell membrane
KW-0966	Cell projection
KW-0969	Cilium
KW-0175	Coiled coil
KW-0963	Cytoplasm
KW-0206	Cytoskeleton
KW-0325	Glycoprotein
KW-0472	Membrane
KW-0539	Nucleus
KW-1185	Reference proteome
KW-0732	Signal
KW-0812	Transmembrane
KW-1133	Transmembrane helix

Interpro

InterPro ID	InterPro Term
IPR022076	Limbin
IPR026501	Limbin/Ellis-van_Creveld

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF12297	EVC2_like