CleftGeneDB-Search

Gene: Vwa8

Basic information

Tag	Content
Uniprot ID	Q8CC88; Q3U4P9; Q6ZQ94; Q8CDH8; Q8VCU3;
Entrez ID	219189
Genbank protein ID	BAC28404.1; BAC26746.1; AAH19143.1; BAE32382.1; BAC97974.1;
Genbank nucleotide ID	NM_173758.3; NM_027906.1;
Ensembl protein ID	ENSMUSP00000154270; ENSMUSP00000048925;
Ensembl nucleotide ID	ENSMUSG00000058997
Gene name	von Willebrand factor A domain-containing protein 8
Gene symbol	Vwa8
Organism	Mus musculus
NCBI taxa ID	10090
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Exhibits ATPase activity in vitro.
Sequence	MQSRLLLLGA PGGLGDVASR RVRLLLRQVL RGRPGGDQQR LEVRLLHSGA TDSGETVSIG 60 DVSYKLKTPK NPELVPQNYI SDSPAQSIVQ HLRWLMQKDL LGQDVFLIGP PGPLRRSVAM 120 QYLELTKREV EYIALSRDTT ETDLKQRREI RAGTAFYIDQ CAVRAATEGR TLVLEGLEKA 180 ERNVLPVLNN LLENREMQLE DGRFLMSAER YDKLLQDHTK EELDAWKIVR VSENFRVIAL 240 GLPVPRYSGN PLDPPLRSRF QARDIYFLPF QDQLKLLYSV GANVSAEKIS QLLSFATTLC 300 SQESSTLGLP DFPLDSLPEA VQILDSFPMM SIEHALQWVY PYTLLLGHEG KMAVEGVLKR 360 FELQGSGHSL LPKEIVRVER MTDSHGSYAH VTIRVAGKEV TIKVPAGTRA VNQPCAPDHF 420 IQTVSHKQLL AEMVQSHMVK DICLIGGKGC GKTVIAKNFA ALLGYSIEPI MLYQDMTARD 480 LLQQRYTLPN GDTAWRSSPL VSAAREGKLV LLDGIHRVNA GTLAVLQRLI HDRELSLYDG 540 SRLLREDRYL SLKEKLQLTD EQLQNRSIFP IHPSFRIIAL AEPPIVGSTT QQWLGPEFLT 600 MFFFHHMKPL VKSEEIQVIK ETVPNVPQEA LEKLLSVTHK LRETQDPTAQ SLAASLSTRQ 660 LLRISRRLSK YPSENLHDAI TKACLSRFLP SLAQSALEKN LADAAIETNT EDSLEPELEN 720 YKCEVVAGSL KIGAVSVPVH NAHEKMKVPD VLFYDNVQHM VVMEDMLKDF VLGEHLLLVG 780 NQGVGKNKIV DRFLHLLNRP REYIQLHRDT TVQSLTLQPT VKGGLIVYED SPLVKAVKLG 840 HILVVDEADK APTNVTCILK TLVENGEMIL ADGRRIVADA ANVDGRENLV AIHPDFRMLA 900 LANRPGFPFL GNDFFGTLGD IFSCHAIDNP KPHSELSMLK QYGPDVPEPV LQKLVAAFGE 960 LRNLADQGII NYPYSTREVV NIVKHLQKFP TEGLSSVVRN VFDFDSYNND MREILMNTLH 1020 KYGIPIGAKP TNVQLAKEFP LPEKTFMGYW IVGQTGNGMQ KVLCPAETNH VDIKGPVLVN 1080 MEKYPIEKHE ARFLSFTEEC TSWKFPLDEV NLICDIAVSH ENGEQTLYVA ACNPVSLYFM 1140 NMTGKNGFFV DFFDIFPRMA SGSWRPFVTV APLGSPLRGQ VVLHEEQSNA VLLLDTTGSA 1200 IRRLVLPTEE FTSKKSSWWS KEEGETYRMC KEFSHKNWVV FYKQTGNSLT VLDVLEGLAH 1260 TISLPINLRT VFLVAEDKWL LVENETNQKY LLTKPAHIGS EDTGACQLYM LKEELPSTGF 1320 GVTQETEFCI PDKVSSDQLS SENLTSAVGQ KIASPNRILS DENSHATIVV GFPDLMSPSE 1380 VYSWKRSSSL RQPSVTSMTM YTGKRTNATP RHNNCVTLTH TNQVVRILPP GEVPLKDLYP 1440 KDVTPPQTAG YIEVTDLQAK KLRYIPVPSA ESLSPYTAWI SAISDTDALL AEWDKSSVVT 1500 VDMGGRVRLW ETGLERLQQS LMEWRNMIGQ DSDKHVQITI ERDSNEDVSD PKHGKEDPDN 1560 MPHVGGNTWA GGTGGRDTAG LGGKGGPYRL DAGHPVYQVS EVEKDAVPED VKRAAREMAQ 1620 KAFQQRLKEI QMSEYDAATY ERFSSAVQRQ VHALRIILDN LQAKGKERQW LRHQATGELD 1680 DAKIIDGLAG EKSIYKRRGD LEPQLGSPQQ KPKRLRLVVD VSGSMYRFNG VDRRLERSME 1740 AVCMVMEAFE NYEEKFKYDI AGHSGDGYNI KLVPVNQIPK NNKQRLEILK TMHEHSQFCM 1800 SGDHTLEGTE HAIKDITTEE ADEYFVIILS DANLSRYGIN PARFAQILTS DPQVNAFAIF 1860 IGSLGDQAAR LQRTLPAGRS FIAMDTKKIP QILQQIFTST MLSSI 1905

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	VWA8	485463	F1PD22	Canis lupus familiaris	Prediction	More>>
1:1 ortholog	VWA8		A0A452ENV0	Capra hircus	Prediction	More>>
1:1 ortholog	VWA8	23078	A3KMH1	Homo sapiens	Publication	More>>
1:1 ortholog	Vwa8	219189	Q8CC88	Mus musculus	Prediction	More>>
1:1 ortholog	VWA8	452560	H2Q7H4	Pan troglodytes	Prediction	More>>
1:1 ortholog	VWA8		I3LJL2	Sus scrofa	Prediction	More>>
1:1 ortholog	VWA8		G1T8E0	Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	vax2	561317	B0R0T1	Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
VWA8	rs370112959G>A; p.Arg1520*	WES and Sanger sequencing	27229527
VWA8	p.Thr817	WES and Sanger sequencing	27229527
VWA8	rs138075452C>T; p.Atg668Gln	WES and Sanger sequencing	27229527
VWA8	rs73464952T>C; p.Val1564Met	WES and Sanger sequencing	27229527

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs249974881	p.Gly13Ser	missense variant	-	NC_000080.6:g.78849320G>A	UniProt
rs248362020	p.Pro34Ser	missense variant	-	NC_000080.6:g.78849383C>T	UniProt
rs264699791	p.Ser48Ala	missense variant	-	NC_000080.6:g.78849425T>G	UniProt
rs1134599427	p.Pro84Arg	missense variant	-	NC_000080.6:g.78908135C>G	UniProt
rs30746850	p.Ile88Val	missense variant	-	NC_000080.6:g.78908146A>G	UniProt
rs242981182	p.Leu100Arg	missense variant	-	NC_000080.6:g.78908183T>G	UniProt
rs51868253	p.Thr343Ala	missense variant	-	NC_000080.6:g.78937159A>G	UniProt
rs230859308	p.Ile375Val	missense variant	-	NC_000080.6:g.78947186A>G	UniProt
rs32219165	p.Lys555Arg	missense variant	-	NC_000080.6:g.78984269A>G	UniProt
rs1133395711	p.Arg576Lys	missense variant	-	NC_000080.6:g.78994429G>A	UniProt
rs216271267	p.Ile585Val	missense variant	-	NC_000080.6:g.78994455A>G	UniProt
rs32214272	p.Thr708Ala	missense variant	-	NC_000080.6:g.79018668A>G	UniProt
rs13482265	p.Glu724Lys	missense variant	-	NC_000080.6:g.79020582G>A	UniProt
rs30115968	p.Asn741Ser	missense variant	-	NC_000080.6:g.79020634A>G	UniProt
rs212366076	p.Lys822Arg	missense variant	-	NC_000080.6:g.79056688A>G	UniProt
rs264307985	p.Leu889Ile	missense variant	-	NC_000080.6:g.79060558C>A	UniProt
rs31329914	p.Val890Ile	missense variant	-	NC_000080.6:g.79060561G>A	UniProt
rs255094889	p.Ala891Val	missense variant	-	NC_000080.6:g.79060565C>T	UniProt
rs249549855	p.Ala891Ser	missense variant	-	NC_000080.6:g.79060564G>T	UniProt
rs215414780	p.Leu899Val	missense variant	-	NC_000080.6:g.79060588C>G	UniProt
rs238960234	p.Ala900Val	missense variant	-	NC_000080.6:g.79060592C>T	UniProt
rs257843593	p.Lys940Arg	missense variant	-	NC_000080.6:g.79062547A>G	UniProt
rs226697724	p.Val950Ile	missense variant	-	NC_000080.6:g.79062576G>A	UniProt
rs257490679	p.Val950Ala	missense variant	-	NC_000080.6:g.79062577T>C	UniProt
rs32207446	p.Ile969Val	missense variant	-	NC_000080.6:g.79062633A>G	UniProt
rs218857664	p.Thr991Asn	missense variant	-	NC_000080.6:g.79064864C>A	UniProt
rs237639087	p.Ser996Ile	missense variant	-	NC_000080.6:g.79064879G>T	UniProt
rs1134005098	p.Lys1029Glu	missense variant	-	NC_000080.6:g.79064977A>G	UniProt
rs239748967	p.Val1062Ile	missense variant	-	NC_000080.6:g.79081183G>A	UniProt
rs258472240	p.Leu1078His	missense variant	-	NC_000080.6:g.79082783T>A	UniProt
rs46041301	p.Lys1145Glu	missense variant	-	NC_000080.6:g.79086691A>G	UniProt
rs46656101	p.Arg1178Lys	missense variant	-	NC_000080.6:g.79086791G>A	UniProt
rs248357021	p.Ser1220Asn	missense variant	-	NC_000080.6:g.79092388G>A	UniProt
rs246317837	p.Phe1328Leu	missense variant	-	NC_000080.6:g.79096393T>C	UniProt
rs228317780	p.Ile1427Val	missense variant	-	NC_000080.6:g.79098384A>G	UniProt
rs248413551	p.Pro1430Arg	missense variant	-	NC_000080.6:g.79098394C>G	UniProt
rs215427990	p.Ala1488Val	missense variant	-	NC_000080.6:g.79103548C>T	UniProt
rs31025485	p.Val1498Ile	missense variant	-	NC_000080.6:g.79103577G>A	UniProt
rs213268661	p.Asp1577Gly	missense variant	-	NC_000080.6:g.79159974A>G	UniProt
rs32202692	p.Asp1605Asn	missense variant	-	NC_000080.6:g.79160057G>A	UniProt
rs221167655	p.Ala1638Thr	missense variant	-	NC_000080.6:g.79164138G>A	UniProt
rs31045152	p.Glu1794Ala	missense variant	-	NC_000080.6:g.79198232A>C	UniProt
rs265053724	p.Thr1817Ile	missense variant	-	NC_000080.6:g.79198301C>T	UniProt

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005524	ATP binding	IEA
GO:0016887	ATPase activity	IDA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0008150	biological_process	ND

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005739	mitochondrion	ISO
GO:0005739	mitochondrion	HDA
GO:0005739	mitochondrion	IDA
GO:0005777	peroxisome	ISO

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0067	ATP-binding
KW-0496	Mitochondrion
KW-0547	Nucleotide-binding
KW-1185	Reference proteome
KW-0809	Transit peptide

Interpro

InterPro ID	InterPro Term
IPR003593	AAA+_ATPase
IPR011704	ATPase_dyneun-rel_AAA
IPR027417	P-loop_NTPase
IPR039891	VWA8
IPR002035	VWF_A
IPR036465	vWFA_dom_sf

PROSITE

PROSITE ID	PROSITE Term
PS50234	VWFA

Pfam

Pfam ID	Pfam Term
PF07728	AAA_5

Gene: Vwa8

Basic information

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Identified variants/mutations related to cleft phenotype

Other genetic variants/mutations

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction