CleftGeneDB-Search

Gene: Evc

Basic information

Tag	Content
Uniprot ID	D3YUJ0
Entrez ID
Genbank protein ID
Genbank nucleotide ID
Ensembl protein ID	ENSMUSP00000109791
Ensembl nucleotide ID	ENSMUSG00000029122
Gene name	Ellis-van Creveld syndrome protein homolog
Gene symbol	Evc
Organism	Mus musculus
NCBI taxa ID	10090
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description
Sequence	MRSTYSDDRI LQCAFLRVGS FPEILACESV DIDLCVCSLH LKDLLQVDTA LRQEKHLMFI 60 QILKACLLDF FPKKKPDDEL CQKVLSKQEH DLEELEKGLQ ARLANTEMLG TGDSGYVSLA 120 DVERKERELS EQLIDNMGAF WKQMESIQPT LMDQFKCSSS KARQFMMTLT GRMIVAEGLL 180 HDSQDLHVLD TLERTMGRSH LARMVEFLRT QIQEETKCRL AAISRGLELL TVQGQLSGRQ 240 KEELLTQQHK AFWEEAERFG REFTQRGKDL VQASQARQAE AAAELTQTQE EERRSFLADS 300 QLTSDPGEFL KAFHEVLERQ RLTRSDQEGD EDTRITEAMA ALCQELYCST MGTFQKFVDS 360 LFLKTLPEVT SLPVAECETL RQQVQEQAAR QLGQADRFRR RQWGLLCDLL EQDKRVWLEE 420 GTLSTVLQRQ LRDHHESTIH GVLSRFSGLS EESSRGILQG HELLLCSALR RLALRGTTIT 480 ALAQMRLSGK KRLLQELHEQ LALEQGVSPC LEEHQWQLLR ALEARIQEEA ARLEDEAQQT 540 GLRLQQQLLA EAQEAGRLLQ LHMERVIGQA LLVHARNVAS KGRTREKEDF KRTLVETVVE 600 SVYVTSTSVN RLVQAHYQAV GKLLQAHEEQ LLQRLKTLQG ERINAYKLWK KQEFSDPSLE 660 SQTADGTHGA SQGVQQRMLS QQKRLLDQFT KHQQGRLNSQ RQKAQELDQL QAQLETQLQE 720 AEQTLISELS TLARVPLPEN KPFSNKRGLP EKPVRTKRKK PPPREREDLG TPNDDHLALA 780 DHTTGPLRCE GFQPTAFLLP PVKCLESGND SSQEYPKSVE PVGMAKIRNT SGRSCWRGYE 840 ARGPLSSTAG VPVFKSH 857

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.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

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	Cleft type	Species	Evidence	Details
1:1 ortholog	EVC	611166	A0A5F4C2C7		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	EVC	102189937	A0A452FYH3		Capra hircus	Prediction	More>>
1:1 ortholog	EVC	2121	P57679	CPO,CL/P	Homo sapiens	Publication	More>>
1:1 ortholog	Evc		D3YUJ0		Mus musculus	Prediction	More>>
1:1 ortholog	EVC	461097	H2RAB9		Pan troglodytes	Prediction	More>>
1:1 ortholog	EVC		A0A287B0J8		Sus scrofa	Prediction	More>>
1:1 ortholog	Evc	289712	G3V706		Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs231263090	p.His90Arg	missense variant	-	NC_000071.6:g.37323700T>C	UniProt
rs32643633	p.Met108Ile	missense variant	-	NC_000071.6:g.37322134C>T	UniProt
rs248080870	p.Glu128Asp	missense variant	-	NC_000071.6:g.37322074C>A	UniProt
rs227900434	p.Met152Val	missense variant	-	NC_000071.6:g.37320349T>C	UniProt
rs32646971	p.Ser199Ala	missense variant	-	NC_000071.6:g.37319078A>C	UniProt
rs214941635	p.Thr231Asn	missense variant	-	NC_000071.6:g.37318981G>T	UniProt
rs29560833	p.Thr264Met	missense variant	-	NC_000071.6:g.37318305G>A	UniProt
rs233873744	p.Arg294Lys	missense variant	-	NC_000071.6:g.37318215C>T	UniProt
rs265917582	p.Ser295Asn	missense variant	-	NC_000071.6:g.37318212C>T	UniProt
rs29563168	p.Phe296Leu	missense variant	-	NC_000071.6:g.37318210A>G	UniProt
rs238576216	p.Leu310Phe	missense variant	-	NC_000071.6:g.37318168G>A	UniProt
rs247415390	p.Arg334Ter	stop gained	-	NC_000071.6:g.37316357G>A	UniProt
rs220296114	p.Thr370Ser	missense variant	-	NC_000071.6:g.37314495G>C	UniProt
rs32644046	p.Ala375Gly	missense variant	-	NC_000071.6:g.37314480G>C	UniProt
rs234632865	p.Thr379Ile	missense variant	-	NC_000071.6:g.37314468G>A	UniProt
rs235849113	p.Gly441Ser	missense variant	-	NC_000071.6:g.37313463C>T	UniProt
rs264941833	p.Glu462Lys	missense variant	-	NC_000071.6:g.37311714C>T	UniProt
rs251091804	p.Ala550Val	missense variant	-	NC_000071.6:g.37310285G>A	UniProt
rs257720115	p.Pro657Leu	missense variant	-	NC_000071.6:g.37307273G>A	UniProt
rs47028246	p.Leu725Phe	missense variant	-	NC_000071.6:g.37301636G>A	UniProt
rs29677154	p.Lys746Asn	missense variant	-	NC_000071.6:g.37301571C>A	UniProt
rs219147037	p.Cys789Tyr	missense variant	-	NC_000071.6:g.37300809C>T	UniProt
rs254112138	p.Asn809Thr	missense variant	-	NC_000071.6:g.37300749T>G	UniProt
rs579628484	p.Tyr815Cys	missense variant	-	NC_000071.6:g.37297233T>C	UniProt
rs239378928	p.Arg828Ser	missense variant	-	NC_000071.6:g.37297195G>T	UniProt

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence

GO:Biological Process

GO ID	GO Term	Evidence

GO:Cellular Component

GO ID	GO Term	Evidence

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0175	Coiled coil
KW-1267	Proteomics identification
KW-1185	Reference proteome

Interpro

InterPro ID	InterPro Term
IPR026582	Evc
IPR026501	Limbin/Ellis-van_Creveld

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term