CleftGeneDB-Search

Gene: CPLANE2

Basic information

Tag	Content
Uniprot ID	Q9BU20; Q5TEV7;
Entrez ID	79363
Genbank protein ID	AAH08702.1; AAH02946.1;
Genbank nucleotide ID	NM_030907.3
Ensembl protein ID	ENSP00000364749
Ensembl nucleotide ID	ENSG00000132881
Gene name	Ciliogenesis and planar polarity effector 2
Gene symbol	CPLANE2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Potential effector of the planar cell polarity signaling pathway. Plays a role in targeted membrane trafficking most probably at the level of vesicle fusion with membranes. Involved in cilium biogenesis by regulating the transport of cargo proteins to the basal body and to the apical tips of cilia. More generally involved in exocytosis in secretory cells (By similarity).
Sequence	MARPPVPGSV VVPNWHESAE GKEYLACILR KNRRRVFGLL ERPVLLPPVS IDTASYKIFV 60 SGKSGVGKTA LVAKLAGLEV PVVHHETTGI QTTVVFWPAK LQASSRVVMF RFEFWDCGES 120 ALKKFDHMLL ACMENTDAFL FLFSFTDRAS FEDLPGQLAR IAGEAPGVVR MVIGSKFDQY 180 MHTDVPERDL TAFRQAWELP LLRVKSVPGR RLADGRTLDG RAGLADVAHI LNGLAEQLWH 240 QDQVAAGLLP NPPESAPE 258

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	Cleft type	Species	Evidence	Details
1:1 ortholog	CPLANE2	516664	A0A3Q1LNI2		Bos taurus	Prediction	More>>
1:1 ortholog	CPLANE2	106503627	A0A452DRN3		Capra hircus	Prediction	More>>
1:1 ortholog	CPLANE2	79363	Q9BU20		Homo sapiens	Prediction	More>>
1:1 ortholog	Cplane2	76166	A2A825	CLO	Mus musculus	Publication	More>>
1:1 ortholog	CPLANE2	741051	H2PY49		Pan troglodytes	Prediction	More>>
1:1 ortholog	CPLANE2		F1SUS6		Sus scrofa	Prediction	More>>
1:1 ortholog	Cplane2		A0A0G2K9E9		Rattus norvegicus	Prediction	More>>
1:1 ortholog	cplane2		F1RBX6		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1049751469	p.Pro4Ala	missense variant	-	NC_000001.11:g.16236733G>C	TOPMed
rs1365396319	p.Val6Leu	missense variant	-	NC_000001.11:g.16236727C>G	TOPMed
rs1365396319	p.Val6Met	missense variant	-	NC_000001.11:g.16236727C>T	TOPMed
rs947424262	p.Pro7Arg	missense variant	-	NC_000001.11:g.16236723G>C	gnomAD
rs947424262	p.Pro7Leu	missense variant	-	NC_000001.11:g.16236723G>A	gnomAD
rs1003620441	p.Gly8Cys	missense variant	-	NC_000001.11:g.16236721C>A	TOPMed,gnomAD
rs902562373	p.Gly8Asp	missense variant	-	NC_000001.11:g.16236720C>T	TOPMed,gnomAD
rs1003620441	p.Gly8Ser	missense variant	-	NC_000001.11:g.16236721C>T	TOPMed,gnomAD
rs902562373	p.Gly8Val	missense variant	-	NC_000001.11:g.16236720C>A	TOPMed,gnomAD
rs1451304512	p.Pro13Leu	missense variant	-	NC_000001.11:g.16236705G>A	gnomAD
rs1451304512	p.Pro13Gln	missense variant	-	NC_000001.11:g.16236705G>T	gnomAD
rs1330474818	p.His16Tyr	missense variant	-	NC_000001.11:g.16236697G>A	gnomAD
rs142953444	p.His16Gln	missense variant	-	NC_000001.11:g.16236695G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1190287323	p.Glu17Gln	missense variant	-	NC_000001.11:g.16236694C>G	TOPMed
rs1484789696	p.Glu17Asp	missense variant	-	NC_000001.11:g.16236692C>G	TOPMed
rs1395594992	p.Ser18Arg	missense variant	-	NC_000001.11:g.16236689A>C	gnomAD
rs766400721	p.Glu20Lys	missense variant	-	NC_000001.11:g.16236685C>T	ExAC,TOPMed,gnomAD
rs766400721	p.Glu20Ter	stop gained	-	NC_000001.11:g.16236685C>A	ExAC,TOPMed,gnomAD
rs756310024	p.Gly21Asp	missense variant	-	NC_000001.11:g.16236681C>T	ExAC,gnomAD
rs750622592	p.Glu23Val	missense variant	-	NC_000001.11:g.16236675T>A	ExAC,TOPMed,gnomAD
rs767921302	p.Tyr24Ter	stop gained	-	NC_000001.11:g.16236671G>T	ExAC,gnomAD
NCI-TCGA novel	p.Tyr24Ter	stop gained	-	NC_000001.11:g.16236671_16236672insT	NCI-TCGA
rs1437606540	p.Ala26Asp	missense variant	-	NC_000001.11:g.16236666G>T	gnomAD
rs1335875474	p.Ala26Thr	missense variant	-	NC_000001.11:g.16236667C>T	TOPMed
rs1291086240	p.Ile28Val	missense variant	-	NC_000001.11:g.16236661T>C	TOPMed,gnomAD
rs1357859729	p.Leu29Arg	missense variant	-	NC_000001.11:g.16236657A>C	gnomAD
rs762224231	p.Arg33Cys	missense variant	-	NC_000001.11:g.16236646G>A	ExAC,TOPMed,gnomAD
rs762224231	p.Arg33Gly	missense variant	-	NC_000001.11:g.16236646G>C	ExAC,TOPMed,gnomAD
rs764625811	p.Arg34Leu	missense variant	-	NC_000001.11:g.16236642C>A	ExAC,TOPMed,gnomAD
rs752040734	p.Arg34Trp	missense variant	-	NC_000001.11:g.16236643G>A	ExAC,gnomAD
rs752040734	p.Arg34Gly	missense variant	-	NC_000001.11:g.16236643G>C	ExAC,gnomAD
rs767270731	p.Val36Leu	missense variant	-	NC_000001.11:g.16236637C>A	ExAC,TOPMed,gnomAD
rs142517793	p.Gly38Val	missense variant	-	NC_000001.11:g.16233764C>A	ESP,ExAC,TOPMed,gnomAD
rs756216694	p.Leu39Arg	missense variant	-	NC_000001.11:g.16233761A>C	ExAC,TOPMed,gnomAD
rs145675226	p.Arg42Trp	missense variant	-	NC_000001.11:g.16233753G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1045896146	p.Arg42Gln	missense variant	-	NC_000001.11:g.16233752C>T	TOPMed,gnomAD
rs1389243634	p.Leu46Pro	missense variant	-	NC_000001.11:g.16233740A>G	TOPMed
rs781318996	p.Pro47Ser	missense variant	-	NC_000001.11:g.16233738G>A	ExAC,TOPMed,gnomAD
rs202049255	p.Pro47Leu	missense variant	-	NC_000001.11:g.16233737G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs138803019	p.Val49Met	missense variant	-	NC_000001.11:g.16233732C>T	ESP,ExAC,TOPMed,gnomAD
rs1225040365	p.Val49Ala	missense variant	-	NC_000001.11:g.16233731A>G	gnomAD
rs138803019	p.Val49Leu	missense variant	-	NC_000001.11:g.16233732C>A	ESP,ExAC,TOPMed,gnomAD
COSM898936	p.Ser50Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.16233728G>A	NCI-TCGA Cosmic
rs536483717	p.Ser50Cys	missense variant	-	NC_000001.11:g.16233728G>C	1000Genomes,ExAC,gnomAD
rs765905778	p.Ile51Leu	missense variant	-	NC_000001.11:g.16233726T>G	ExAC,TOPMed,gnomAD
rs1276787213	p.Ile51Met	missense variant	-	NC_000001.11:g.16233724A>C	gnomAD
rs771786071	p.Ile51Thr	missense variant	-	NC_000001.11:g.16233725A>G	ExAC,TOPMed,gnomAD
rs1363941930	p.Asp52Asn	missense variant	-	NC_000001.11:g.16233723C>T	gnomAD
rs1157011034	p.Ser55Arg	missense variant	-	NC_000001.11:g.16233712G>C	TOPMed
rs1220641495	p.Lys57Met	missense variant	-	NC_000001.11:g.16233707T>A	gnomAD
rs1318730463	p.Lys57Asn	missense variant	-	NC_000001.11:g.16233706C>G	TOPMed,gnomAD
rs772894659	p.Ile58Met	missense variant	-	NC_000001.11:g.16233703G>C	ExAC,gnomAD
rs567329599	p.Ser61Cys	missense variant	-	NC_000001.11:g.16233695G>C	1000Genomes,ExAC,gnomAD
COSM6122402	p.Gly62Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.16233692C>T	NCI-TCGA Cosmic
rs368208180	p.Gly62Trp	missense variant	-	NC_000001.11:g.16233693C>A	ESP,ExAC,TOPMed,gnomAD
rs368208180	p.Gly62Arg	missense variant	-	NC_000001.11:g.16233693C>T	ESP,ExAC,TOPMed,gnomAD
rs749182013	p.Ser64Thr	missense variant	-	NC_000001.11:g.16233686C>G	ExAC,gnomAD
rs547718416	p.Gly65Ser	missense variant	-	NC_000001.11:g.16233684C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs769896751	p.Gly65Asp	missense variant	-	NC_000001.11:g.16233683C>T	ExAC,TOPMed,gnomAD
rs781364983	p.Val66Ala	missense variant	-	NC_000001.11:g.16233680A>G	ExAC,gnomAD
rs374649018	p.Val66Met	missense variant	-	NC_000001.11:g.16233681C>T	ESP,ExAC,TOPMed,gnomAD
rs1051751058	p.Gly67Val	missense variant	-	NC_000001.11:g.16233677C>A	TOPMed,gnomAD
rs747250057	p.Thr69Met	missense variant	-	NC_000001.11:g.16233671G>A	ExAC,TOPMed,gnomAD
rs370908519	p.Ala70Val	missense variant	-	NC_000001.11:g.16233668G>A	ESP,ExAC,TOPMed,gnomAD
rs370908519	p.Ala70Val	missense variant	-	NC_000001.11:g.16233668G>A	NCI-TCGA,NCI-TCGA Cosmic
COSM898933	p.Leu71Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.16233666G>T	NCI-TCGA Cosmic
rs149219920	p.Lys74Arg	missense variant	-	NC_000001.11:g.16233656T>C	ESP,ExAC,gnomAD
rs149219920	p.Lys74Thr	missense variant	-	NC_000001.11:g.16233656T>G	ESP,ExAC,gnomAD
rs749859517	p.Leu75Val	missense variant	-	NC_000001.11:g.16233654G>C	ExAC,gnomAD
rs1450586458	p.Pro81Ala	missense variant	-	NC_000001.11:g.16233636G>C	gnomAD
rs1405542226	p.Val82Ala	missense variant	-	NC_000001.11:g.16233632A>G	gnomAD
rs763969921	p.Val83Met	missense variant	-	NC_000001.11:g.16233630C>T	ExAC,gnomAD
rs762708193	p.His84Tyr	missense variant	-	NC_000001.11:g.16233627G>A	ExAC,TOPMed,gnomAD
rs775467926	p.His85Gln	missense variant	-	NC_000001.11:g.16233622G>C	ExAC,gnomAD
rs17849687	p.Glu86Gly	missense variant	-	NC_000001.11:g.16233620T>C	-
rs17849687	p.Glu86Gly	missense variant	-	NC_000001.11:g.16233620T>C	UniProt,dbSNP
VAR_031772	p.Glu86Gly	missense variant	-	NC_000001.11:g.16233620T>C	UniProt
rs202215328	p.Glu86Lys	missense variant	-	NC_000001.11:g.16233621C>T	ExAC,TOPMed,gnomAD
COSM3477646	p.Thr88Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.16233614G>A	NCI-TCGA Cosmic
rs776638434	p.Gly89Ser	missense variant	-	NC_000001.11:g.16233612C>T	ExAC,TOPMed,gnomAD
rs747137801	p.Ile90Phe	missense variant	-	NC_000001.11:g.16233015T>A	ExAC,TOPMed,gnomAD
rs926975093	p.Ile90Thr	missense variant	-	NC_000001.11:g.16233014A>G	gnomAD
COSM3477645	p.Thr93Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.16233005G>A	NCI-TCGA Cosmic
rs773389435	p.Thr93Ala	missense variant	-	NC_000001.11:g.16233006T>C	ExAC,gnomAD
rs941769347	p.Val94Met	missense variant	-	NC_000001.11:g.16233003C>T	TOPMed,gnomAD
COSM1335938	p.Lys100Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.16232983C>A	NCI-TCGA Cosmic
rs1301826860	p.Leu101Val	missense variant	-	NC_000001.11:g.16232982G>C	gnomAD
rs1404922058	p.Ala103Val	missense variant	-	NC_000001.11:g.16232975G>A	gnomAD
rs748423518	p.Ser104Thr	missense variant	-	NC_000001.11:g.16232972C>G	ExAC,gnomAD
rs779088609	p.Ser105Gly	missense variant	-	NC_000001.11:g.16232970T>C	ExAC,gnomAD
rs115950321	p.Arg106His	missense variant	-	NC_000001.11:g.16232966C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs376416667	p.Arg106Cys	missense variant	-	NC_000001.11:g.16232967G>A	ESP,ExAC,TOPMed,gnomAD
rs919008628	p.Val107Ile	missense variant	-	NC_000001.11:g.16232964C>T	TOPMed,gnomAD
rs200122419	p.Val107Ala	missense variant	-	NC_000001.11:g.16232963A>G	1000Genomes,ExAC,gnomAD
rs536419247	p.Val108Ile	missense variant	-	NC_000001.11:g.16232961C>T	ExAC,TOPMed,gnomAD
rs536419247	p.Val108Phe	missense variant	-	NC_000001.11:g.16232961C>A	ExAC,TOPMed,gnomAD
rs941874378	p.Met109Leu	missense variant	-	NC_000001.11:g.16232958T>A	TOPMed,gnomAD
rs941874378	p.Met109Val	missense variant	-	NC_000001.11:g.16232958T>C	TOPMed,gnomAD
rs777448995	p.Met109Lys	missense variant	-	NC_000001.11:g.16232957A>T	ExAC,gnomAD
rs1206903027	p.Phe110Leu	missense variant	-	NC_000001.11:g.16232955A>G	gnomAD
rs141168630	p.Arg111Cys	missense variant	-	NC_000001.11:g.16232952G>A	ESP,ExAC,TOPMed,gnomAD
rs1260350602	p.Arg111His	missense variant	-	NC_000001.11:g.16232951C>T	gnomAD
rs752402317	p.Phe114Leu	missense variant	-	NC_000001.11:g.16232941G>C	ExAC,gnomAD
rs764939463	p.Trp115Ter	stop gained	-	NC_000001.11:g.16232938C>T	ExAC
rs759436560	p.Gly118Glu	missense variant	-	NC_000001.11:g.16232930C>T	ExAC,gnomAD
rs1281827216	p.Gly118Ter	stop gained	-	NC_000001.11:g.16232931C>A	gnomAD
rs1383404122	p.Glu119Gly	missense variant	-	NC_000001.11:g.16232927T>C	gnomAD
rs766341204	p.Glu119Lys	missense variant	-	NC_000001.11:g.16232928C>T	ExAC,gnomAD
NCI-TCGA novel	p.Glu119Gln	missense variant	-	NC_000001.11:g.16232928C>G	NCI-TCGA
COSM6122403	p.Ser120Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.16232924G>A	NCI-TCGA Cosmic
rs760633192	p.Lys124Gln	missense variant	-	NC_000001.11:g.16232913T>G	ExAC,gnomAD
rs1407874851	p.Asp126Glu	missense variant	-	NC_000001.11:g.16232905A>T	gnomAD
rs761874778	p.Asp126Tyr	missense variant	-	NC_000001.11:g.16232907C>A	ExAC,TOPMed,gnomAD
rs761874778	p.Asp126Asn	missense variant	-	NC_000001.11:g.16232907C>T	ExAC,TOPMed,gnomAD
rs1404994647	p.Met128Ile	missense variant	-	NC_000001.11:g.16232899C>T	TOPMed
rs746374981	p.Ala131Val	missense variant	-	NC_000001.11:g.16232645G>A	ExAC,gnomAD
rs200973333	p.Cys132Phe	missense variant	-	NC_000001.11:g.16232642C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs200973333	p.Cys132Ser	missense variant	-	NC_000001.11:g.16232642C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs542142896	p.Met133Ile	missense variant	-	NC_000001.11:g.16232638C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1485996864	p.Met133Val	missense variant	-	NC_000001.11:g.16232640T>C	TOPMed
rs747730146	p.Asn135Ser	missense variant	-	NC_000001.11:g.16232633T>C	ExAC,gnomAD
rs376490389	p.Thr136Ile	missense variant	-	NC_000001.11:g.16232630G>A	ESP,ExAC,gnomAD
rs372882841	p.Ala138Asp	missense variant	-	NC_000001.11:g.16232624G>T	ESP,ExAC,TOPMed,gnomAD
rs754573027	p.Ala138Thr	missense variant	-	NC_000001.11:g.16232625C>T	ExAC,TOPMed,gnomAD
rs372882841	p.Ala138Val	missense variant	-	NC_000001.11:g.16232624G>A	ESP,ExAC,TOPMed,gnomAD
rs1369814139	p.Leu140Pro	missense variant	-	NC_000001.11:g.16232618A>G	gnomAD
rs139279526	p.Leu140Phe	missense variant	-	NC_000001.11:g.16232619G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe141Leu	missense variant	-	NC_000001.11:g.16232616A>G	NCI-TCGA
rs369510689	p.Phe141Leu	missense variant	-	NC_000001.11:g.16232614G>T	ESP,ExAC,TOPMed,gnomAD
rs750314535	p.Ser144Ala	missense variant	-	NC_000001.11:g.16232607A>C	ExAC,TOPMed
rs767538456	p.Ser144Phe	missense variant	-	NC_000001.11:g.16232606G>A	ExAC,TOPMed,gnomAD
rs750314535	p.Ser144Pro	missense variant	-	NC_000001.11:g.16232607A>G	ExAC,TOPMed
rs375956373	p.Arg148Cys	missense variant	-	NC_000001.11:g.16232595G>A	ESP,ExAC,TOPMed,gnomAD
rs751609370	p.Arg148His	missense variant	-	NC_000001.11:g.16232594C>T	ExAC,TOPMed,gnomAD
rs375956373	p.Arg148Gly	missense variant	-	NC_000001.11:g.16232595G>C	ESP,ExAC,TOPMed,gnomAD
rs375956373	p.Arg148Ser	missense variant	-	NC_000001.11:g.16232595G>T	ESP,ExAC,TOPMed,gnomAD
rs1470607617	p.Ala149Val	missense variant	-	NC_000001.11:g.16232591G>A	TOPMed,gnomAD
rs1482940166	p.Leu154Ile	missense variant	-	NC_000001.11:g.16232577G>T	TOPMed,gnomAD
rs1270215233	p.Leu154Arg	missense variant	-	NC_000001.11:g.16232576A>C	gnomAD
rs1171564864	p.Gln157Glu	missense variant	-	NC_000001.11:g.16232568G>C	TOPMed
rs760031358	p.Arg160Gly	missense variant	-	NC_000001.11:g.16232559G>C	ExAC,TOPMed,gnomAD
rs142028968	p.Arg160His	missense variant	-	NC_000001.11:g.16232558C>T	ESP,ExAC,TOPMed,gnomAD
rs760031358	p.Arg160Cys	missense variant	-	NC_000001.11:g.16232559G>A	ExAC,TOPMed,gnomAD
rs1280928963	p.Ile161Met	missense variant	-	NC_000001.11:g.16232554T>C	gnomAD
VAR_079173	p.Ile161Leu	Missense	-	-	UniProt
rs149140682	p.Gly163Val	missense variant	-	NC_000001.11:g.16232549C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs771425497	p.Gly163Ser	missense variant	-	NC_000001.11:g.16232550C>T	ExAC
rs773850912	p.Pro166Ser	missense variant	-	NC_000001.11:g.16232541G>A	ExAC,gnomAD
rs1269013003	p.Pro166Leu	missense variant	-	NC_000001.11:g.16232540G>A	TOPMed
rs949219760	p.Gly167Asp	missense variant	-	NC_000001.11:g.16232537C>T	TOPMed,gnomAD
rs1224565400	p.Gly167Arg	missense variant	-	NC_000001.11:g.16232538C>G	TOPMed
rs1406752292	p.Val168Ile	missense variant	-	NC_000001.11:g.16232535C>T	TOPMed,gnomAD
rs148173357	p.Val169Ile	missense variant	-	NC_000001.11:g.16232532C>T	ESP,ExAC,TOPMed,gnomAD
rs1418876777	p.Met171Ile	missense variant	-	NC_000001.11:g.16232524C>T	gnomAD
rs762123455	p.Met171Leu	missense variant	-	NC_000001.11:g.16232526T>A	ExAC,TOPMed
rs762123455	p.Met171Val	missense variant	-	NC_000001.11:g.16232526T>C	ExAC,TOPMed
rs779738771	p.Met171Thr	missense variant	-	NC_000001.11:g.16232525A>G	ExAC,gnomAD
rs573262072	p.Val172Phe	missense variant	-	NC_000001.11:g.16232523C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs745637276	p.Ile173Asn	missense variant	-	NC_000001.11:g.16232519A>T	ExAC,TOPMed,gnomAD
rs553404746	p.Gly174Arg	missense variant	-	NC_000001.11:g.16232517C>G	1000Genomes,ExAC,gnomAD
rs1157241059	p.Gly174Asp	missense variant	-	NC_000001.11:g.16232516C>T	gnomAD
rs553404746	p.Gly174Ser	missense variant	-	NC_000001.11:g.16232517C>T	1000Genomes,ExAC,gnomAD
COSM3477642	p.Ser175Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.16232513G>A	NCI-TCGA Cosmic
rs751458178	p.Lys176Thr	missense variant	-	NC_000001.11:g.16232510T>G	ExAC,gnomAD
rs751458178	p.Lys176Arg	missense variant	-	NC_000001.11:g.16232510T>C	ExAC,gnomAD
rs1335826829	p.Phe177Leu	missense variant	-	NC_000001.11:g.16232296A>G	TOPMed
rs746956288	p.Asp178Val	missense variant	-	NC_000001.11:g.16232292T>A	ExAC,TOPMed,gnomAD
rs1310277877	p.Asp178Glu	missense variant	-	NC_000001.11:g.16232291G>T	gnomAD
rs770699640	p.Asp178Asn	missense variant	-	NC_000001.11:g.16232293C>T	ExAC,gnomAD
rs777909226	p.Gln179Ter	stop gained	-	NC_000001.11:g.16232290G>A	ExAC,TOPMed,gnomAD
rs887390065	p.Met181Thr	missense variant	-	NC_000001.11:g.16232283A>G	TOPMed
rs752787610	p.His182Gln	missense variant	-	NC_000001.11:g.16232279G>T	ExAC,TOPMed,gnomAD
rs779152901	p.Thr183Met	missense variant	-	NC_000001.11:g.16232277G>A	ExAC,gnomAD
rs754009061	p.Asp184Asn	missense variant	-	NC_000001.11:g.16232275C>T	ExAC,gnomAD
rs546637297	p.Asp184Ala	missense variant	-	NC_000001.11:g.16232274T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs750905072	p.Val185Met	missense variant	-	NC_000001.11:g.16232272C>T	ExAC,TOPMed,gnomAD
rs1043408722	p.Pro186Ser	missense variant	-	NC_000001.11:g.16232269G>A	TOPMed
rs774923410	p.Glu187Gln	missense variant	-	NC_000001.11:g.16232266C>G	ExAC,gnomAD
rs774923410	p.Glu187Lys	missense variant	-	NC_000001.11:g.16232266C>T	ExAC,gnomAD
rs571056693	p.Arg188Trp	missense variant	-	NC_000001.11:g.16232263G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs201038756	p.Arg188Gln	missense variant	-	NC_000001.11:g.16232262C>T	ESP,ExAC,TOPMed,gnomAD
rs776207112	p.Asp189Glu	missense variant	-	NC_000001.11:g.16232258G>T	ExAC,gnomAD
rs770740602	p.Leu190Phe	missense variant	-	NC_000001.11:g.16232257G>A	ExAC,gnomAD
rs141788938	p.Thr191Ile	missense variant	-	NC_000001.11:g.16232253G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1043614471	p.Arg194Trp	missense variant	-	NC_000001.11:g.16232245G>A	gnomAD
rs772082264	p.Arg194Gln	missense variant	-	NC_000001.11:g.16232244C>T	ExAC,TOPMed,gnomAD
rs146969788	p.Trp197Cys	missense variant	-	NC_000001.11:g.16232234C>A	ESP,ExAC,TOPMed,gnomAD
rs146969788	p.Trp197Ter	stop gained	-	NC_000001.11:g.16232234C>T	ESP,ExAC,TOPMed,gnomAD
rs946600473	p.Trp197Arg	missense variant	-	NC_000001.11:g.16232236A>G	TOPMed,gnomAD
rs779066950	p.Glu198Ter	stop gained	-	NC_000001.11:g.16232233C>A	ExAC,TOPMed,gnomAD
rs1358510414	p.Pro200Ser	missense variant	-	NC_000001.11:g.16232227G>A	TOPMed
rs972334462	p.Leu201Pro	missense variant	-	NC_000001.11:g.16232223A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Leu201CysPheSerTerUnk	frameshift	-	NC_000001.11:g.16232224G>-	NCI-TCGA
rs576683687	p.Arg203Gln	missense variant	-	NC_000001.11:g.16232217C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs531243130	p.Arg203Trp	missense variant	-	NC_000001.11:g.16232218G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs756469699	p.Val204Met	missense variant	-	NC_000001.11:g.16232215C>T	ExAC,gnomAD
rs909485740	p.Ser206Asn	missense variant	-	NC_000001.11:g.16232208C>T	TOPMed
rs541881333	p.Val207Met	missense variant	-	NC_000001.11:g.16232206C>T	1000Genomes,ExAC
rs140675814	p.Pro208Leu	missense variant	-	NC_000001.11:g.16232202G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs759019748	p.Arg210Gln	missense variant	-	NC_000001.11:g.16232196C>T	ExAC,TOPMed,gnomAD
rs764792598	p.Arg210Trp	missense variant	-	NC_000001.11:g.16232197G>A	ExAC,TOPMed,gnomAD
rs776318544	p.Arg211Gln	missense variant	-	NC_000001.11:g.16232193C>T	ExAC,TOPMed,gnomAD
rs1249511161	p.Arg211Trp	missense variant	-	NC_000001.11:g.16232194G>A	gnomAD
rs1490528199	p.Ala213Ser	missense variant	-	NC_000001.11:g.16232188C>A	gnomAD
rs1242742955	p.Asp214Gly	missense variant	-	NC_000001.11:g.16232184T>C	gnomAD
rs773080454	p.Arg216His	missense variant	-	NC_000001.11:g.16232178C>T	ExAC,gnomAD
rs760429966	p.Arg216Cys	missense variant	-	NC_000001.11:g.16232179G>A	ExAC,TOPMed,gnomAD
rs760429966	p.Arg216Ser	missense variant	-	NC_000001.11:g.16232179G>T	ExAC,TOPMed,gnomAD
rs1225821766	p.Leu218Met	missense variant	-	NC_000001.11:g.16232173G>T	gnomAD
NCI-TCGA novel	p.Asp219Gly	missense variant	-	NC_000001.11:g.16232169T>C	NCI-TCGA
rs201650925	p.Gly220Glu	missense variant	-	NC_000001.11:g.16232166C>T	ExAC,gnomAD
rs201650925	p.Gly220Ala	missense variant	-	NC_000001.11:g.16232166C>G	ExAC,gnomAD
rs371291409	p.Gly220Arg	missense variant	-	NC_000001.11:g.16232167C>T	ESP,ExAC,TOPMed,gnomAD
rs371291409	p.Gly220Trp	missense variant	-	NC_000001.11:g.16232167C>A	ESP,ExAC,TOPMed,gnomAD
rs373665028	p.Arg221Trp	missense variant	-	NC_000001.11:g.16232164G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs373665028	p.Arg221Gly	missense variant	-	NC_000001.11:g.16232164G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs998454690	p.Arg221Gln	missense variant	-	NC_000001.11:g.16232163C>T	TOPMed
NCI-TCGA novel	p.Ala222Ser	missense variant	-	NC_000001.11:g.16232161C>A	NCI-TCGA
NCI-TCGA novel	p.Ala225Val	missense variant	-	NC_000001.11:g.16232151G>A	NCI-TCGA
rs746095494	p.Asp226Asn	missense variant	-	NC_000001.11:g.16232149C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp226His	missense variant	-	NC_000001.11:g.16232149C>G	NCI-TCGA
rs143336938	p.Val227Ile	missense variant	-	NC_000001.11:g.16232146C>T	ESP,ExAC,TOPMed,gnomAD
rs752042722	p.Ala228Thr	missense variant	-	NC_000001.11:g.16232143C>T	ExAC,TOPMed,gnomAD
rs752042722	p.Ala228Ser	missense variant	-	NC_000001.11:g.16232143C>A	ExAC,TOPMed,gnomAD
rs1270967145	p.Ile230Leu	missense variant	-	NC_000001.11:g.16232137T>A	gnomAD
rs371406947	p.Leu231Ile	missense variant	-	NC_000001.11:g.16232134G>T	ESP,ExAC,gnomAD
rs753243492	p.Asn232Ile	missense variant	-	NC_000001.11:g.16232130T>A	ExAC,TOPMed,gnomAD
rs753243492	p.Asn232Ser	missense variant	-	NC_000001.11:g.16232130T>C	ExAC,TOPMed,gnomAD
rs557518995	p.Glu236Gly	missense variant	-	NC_000001.11:g.16232118T>C	1000Genomes,ExAC,gnomAD
rs1476978995	p.Gln237Ter	stop gained	-	NC_000001.11:g.16232116G>A	TOPMed
rs760333794	p.His240Tyr	missense variant	-	NC_000001.11:g.16232107G>A	ExAC,TOPMed,gnomAD
rs368888277	p.Gln243Ter	stop gained	-	NC_000001.11:g.16232098G>A	ESP,ExAC,gnomAD
rs368888277	p.Gln243Glu	missense variant	-	NC_000001.11:g.16232098G>C	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Val244Gly	missense variant	-	NC_000001.11:g.16232094A>C	NCI-TCGA
rs1200243112	p.Ala245Val	missense variant	-	NC_000001.11:g.16232091G>A	TOPMed
rs1224538818	p.Ala246Ser	missense variant	-	NC_000001.11:g.16232089C>A	gnomAD
rs768436972	p.Leu249Phe	missense variant	-	NC_000001.11:g.16232080G>A	ExAC,gnomAD
rs749270176	p.Asn251Ser	missense variant	-	NC_000001.11:g.16232073T>C	ExAC,TOPMed,gnomAD
rs1438708955	p.Pro252Ala	missense variant	-	NC_000001.11:g.16232071G>C	TOPMed
COSM2088980	p.Pro253GlnPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.16232067G>-	NCI-TCGA Cosmic
rs1402610096	p.Pro253Ser	missense variant	-	NC_000001.11:g.16232068G>A	gnomAD
rs371168864	p.Pro253Arg	missense variant	-	NC_000001.11:g.16232067G>C	1000Genomes,TOPMed,gnomAD
NCI-TCGA novel	p.Glu254Gln	missense variant	-	NC_000001.11:g.16232065C>G	NCI-TCGA
rs1477817917	p.Glu254Asp	missense variant	-	NC_000001.11:g.16232063C>A	gnomAD
rs1289066461	p.Glu254Lys	missense variant	-	NC_000001.11:g.16232065C>T	gnomAD
rs923387634	p.Ser255Gly	missense variant	-	NC_000001.11:g.16232062T>C	TOPMed,gnomAD
rs775366241	p.Ser255Thr	missense variant	-	NC_000001.11:g.16232061C>G	ExAC,TOPMed,gnomAD
rs923387634	p.Ser255Cys	missense variant	-	NC_000001.11:g.16232062T>A	TOPMed,gnomAD
rs1158059389	p.Ala256Thr	missense variant	-	NC_000001.11:g.16232059C>T	gnomAD
rs769928556	p.Pro257Ala	missense variant	-	NC_000001.11:g.16232056G>C	ExAC,gnomAD
rs746078776	p.Ter259Trp	stop lost	-	NC_000001.11:g.16232048T>C	ExAC,TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0220708	VATER Association	disease	MGD
C1415817	HETEROTAXY, VISCERAL, 2, AUTOSOMAL	disease	MGD
C1844020	HETEROTAXY, VISCERAL, 1, X-LINKED	disease	MGD
C1853444	Heterotaxy, Visceral, 3, Autosomal	disease	MGD
C3151057	HETEROTAXY, VISCERAL, 4, AUTOSOMAL	disease	MGD
C3151867	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED	disease	MGD
C3553676	HETEROTAXY, VISCERAL, 6, AUTOSOMAL	disease	MGD

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0003924	GTPase activity	IEA
GO:0005515	protein binding	IPI
GO:0005525	GTP binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006887	exocytosis	IEA
GO:0015031	protein transport	IEA
GO:0017157	regulation of exocytosis	ISS
GO:0031338	regulation of vesicle fusion	ISS
GO:0034613	cellular protein localization	ISS
GO:0060271	cilium assembly	ISS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005654	nucleoplasm	IDA
GO:0005737	cytoplasm	IEA
GO:0036064	ciliary basal body	ISS

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
D000082	Acetaminophen	Acetaminophen affects the expression of CPLANE2 mRNA	25064622
D000082	Acetaminophen	Acetaminophen results in decreased expression of CPLANE2 mRNA	26690555
D000638	Amiodarone	Amiodarone affects the expression of CPLANE2 mRNA	25064622
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of CPLANE2 mRNA	22316170
C006780	bisphenol A	bisphenol A results in increased methylation of CPLANE2 intron	30906313
C006780	bisphenol A	bisphenol A results in decreased expression of CPLANE2 mRNA	25181051
D002746	Chlorpromazine	Chlorpromazine affects the expression of CPLANE2 mRNA	25064622
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in increased expression of CPLANE2 mRNA	27392435
D016572	Cyclosporine	Cyclosporine affects the expression of CPLANE2 mRNA	25064622
D000077209	Decitabine	Decitabine results in increased expression of CPLANE2 mRNA	19194470
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in decreased expression of CPLANE2 mRNA	30165855
D004997	Ethinyl Estradiol	Ethinyl Estradiol affects the expression of CPLANE2 mRNA	25064622
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in increased expression of CPLANE2 mRNA	27392435
C544151	jinfukang	jinfukang results in increased expression of CPLANE2 mRNA	27392435
D007854	Lead	Lead affects the expression of CPLANE2 mRNA	28903495
D010269	Paraquat	Paraquat affects the expression of CPLANE2 mRNA	25064622
D012822	Silicon Dioxide	Silicon Dioxide analog results in increased expression of CPLANE2 mRNA	25895662
D012822	Silicon Dioxide	Silicon Dioxide results in decreased expression of CPLANE2 mRNA	25351596
D013752	Tetracycline	Tetracycline affects the expression of CPLANE2 mRNA	25064622
D013853	Thioacetamide	Thioacetamide affects the expression of CPLANE2 mRNA	25064622
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in increased expression of CPLANE2 mRNA	26179874
D014635	Valproic Acid	Valproic Acid affects the expression of CPLANE2 mRNA	25064622

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0966	Cell projection
KW-0969	Cilium
KW-0970	Cilium biogenesis/degradation
KW-0963	Cytoplasm
KW-0206	Cytoskeleton
KW-0268	Exocytosis
KW-0342	GTP-binding
KW-0547	Nucleotide-binding
KW-0621	Polymorphism
KW-0653	Protein transport
KW-1185	Reference proteome
KW-0813	Transport

Interpro

InterPro ID	InterPro Term
IPR027417	P-loop_NTPase
IPR039677	RSG1
IPR001806	Small_GTPase

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF00071	Ras