Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	353238
Gene name	Peptidyl arginine deiminase 6
Gene symbol	PADI6
Synonyms (NCBI Gene)	OZEMA16PREMBL2hPADVI
Chromosome	1
Chromosome location	1p36.13
Summary	This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distin

Show/Hide all (5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs775156958	T>A	Pathogenic	Coding sequence variant, missense variant
rs1057517681	C>G,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs1057517682	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057517683	C>T	Pathogenic	Stop gained, coding sequence variant
rs1057517684	G>A	Pathogenic	Missense variant, coding sequence variant

Show/Hide all (7)

miRTarBase ID	miRNA	Experiments
MIRT1210220	hsa-miR-3918	CLIP-seq
MIRT1210221	hsa-miR-4487	CLIP-seq
MIRT1210222	hsa-miR-4512	CLIP-seq
MIRT1210223	hsa-miR-4660	CLIP-seq
MIRT1210224	hsa-miR-4685-5p	CLIP-seq
MIRT1210225	hsa-miR-486-3p	CLIP-seq
MIRT1210226	hsa-miR-885-3p	CLIP-seq

Show/Hide all (32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001701	Process	In utero embryonic development	IEA
GO:0004668	Function	Protein-arginine deiminase activity	IBA
GO:0004668	Function	Protein-arginine deiminase activity	IDA	38656308, 39286527
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	27545678
GO:0005737	Component	Cytoplasm	IEA
GO:0007010	Process	Cytoskeleton organization	IEA
GO:0007028	Process	Cytoplasm organization	IEA
GO:0008104	Process	Intracellular protein localization	IEA
GO:0015631	Function	Tubulin binding	IEA
GO:0015631	Function	Tubulin binding	ISS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0040016	Process	Embryonic cleavage	IEA
GO:0040016	Process	Embryonic cleavage	ISS
GO:0042802	Function	Identical protein binding	IDA	38656308, 39286527
GO:0043143	Process	Regulation of translation by machinery localization	IEA
GO:0044725	Process	Epigenetic programming in the zygotic pronuclei	IEA
GO:0044725	Process	Epigenetic programming in the zygotic pronuclei	ISS
GO:0045111	Component	Intermediate filament cytoskeleton	IEA
GO:0060473	Component	Cortical granule	IEA
GO:0060473	Component	Cortical granule	ISS
GO:0140089	Process	Protein storage	IDA	37922900
GO:0140089	Process	Protein storage	IEA
GO:0140094	Function	Structural constituent of cytoplasmic lattice	IDA	37922900
GO:0140094	Function	Structural constituent of cytoplasmic lattice	IEA
GO:0140095	Component	Cytoplasmic lattice	IDA	37922900
GO:0140095	Component	Cytoplasmic lattice	IEA
GO:1990917	Component	Ooplasm	IEA

MIM	HGNC	e!Ensembl
610363	20449	ENSG00000276747

Q6TGC4

Protein name

Inactive protein-arginine deiminase type-6 (Peptidyl arginine deiminase-like protein) (Peptidylarginine deiminase VI) (hPADVI) (Protein-arginine deiminase type VI) (Protein-arginine deiminase type-6)

Protein function

Structural constituent of cytoplasmic lattices, which plays a key role in early embryonic development (PubMed:37922900). Cytoplasmic lattices consist in fibrous structures found in the cytoplasm of oocytes and preimplantation embryos (PubMed:379

PDB

4DAT , 4DAU , 8QL0 , 9FMN

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08526	PAD_N	9 → 120	Protein-arginine deiminase (PAD) N-terminal domain	Domain
PF08527	PAD_M	122 → 281	Protein-arginine deiminase (PAD) middle domain	Domain
PF03068	PAD	292 → 691	Protein-arginine deiminase (PAD)	Family

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in oocytes and weakly expressed in other somatic tissues. {ECO:0000269|PubMed:15625577, ECO:0000269|PubMed:27545678}.

Sequence

MVSVEGRAMSFQSIIHLSLDSPVHAVCVLGTEICLDLSGCAPQKCQCFTIHGSGRVLIDV
ANTVISEKEDATIWWPLSDPTYATVKMTSPSPSVDADKVSVTYYGPNEDAPVGTAVLYLT
GIEVSLEVDIYRNGQVEMSSDKQAKKKWIWGPSGWGAILLVNCNPADVGQQLEDKKTKKV
IFSEEITNLSQMTLNVQGPSCILKKYRLVLHTSKEESKKARVYWPQKDNSSTFELVLGPD
QHAYTLALLGNHLKETFYVEAIAFPSAEFSGLISYSVSLVEESQDPSIPETVLYKDTVVF
RVAPCVFIPCTQVPLEVYLCRELQLQGFVDTVTKLSEKSNSQVASVYEDPNRLGRWLQDE
MAFCYTQAPHKTTSLILDTPQAADLDEFPMKYSLSPGIGYMIQDTEDHKVASMDSIGNLM
VSPPVKVQGKEYPLGRVLIGSSFYPSAEGRAMSKTLRDFLYAQQVQAPVELYSDWLMTGH
VDEFMCFIPTDDKNEGKKGFLLLLASPSACYKLFREKQKEGYGDALLFDELRADQLLSNG
REAKTIDQLLADESLKKQNEYVEKCIHLNRDILKTELGLVEQDIIEIPQLFCLEKLTNIP
SDQQPKRSFARPYFPDLLRMIVMGKNLGIPKPFGPQIKGTCCLEEKICCLLEPLGFKCTF
INDFDCYLTEVGDICACANIRRVPFAFKWWKMVP

Sequence length

694

Interactions

View interactions

	Reactome
			Chromatin modifying enzymes

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
PADI6-related disorder	Likely pathogenic	rs1275178104	RCV003400019
Preimplantation embryonic lethality 2	Likely pathogenic; Pathogenic	rs766402946, rs1464076815, rs2100297230, rs2100316317, rs755260464, rs1275059440, rs2100280270, rs2100332594, rs1048529437, rs1057517681, rs1057517682, rs775156958, rs1057517683, rs1057517684	RCV001814586 RCV001814587 RCV001814588 RCV001814589 RCV001814591 RCV001814593 RCV001814597 RCV001814598 RCV004018313 RCV000412544 RCV000412605 RCV000412664 RCV000412549 RCV000412606

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Premature ovarian failure	Uncertain significance	rs375717303	RCV001002730

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abortion Spontaneous	Associate	29693651
Beckwith Wiedemann Syndrome	Associate	32928291, 35317853
Birk Barel Mental Retardation Dysmorphism Syndrome	Associate	32928291, 35296332
Carcinoma Embryonal	Associate	29693651, 31664658, 34036456, 35946397
Diabetes Mellitus Type 2	Associate	35946397
Early Onset Glaucoma	Associate	35946397
Embryo Loss	Associate	36088419
Epilepsy Generalized	Associate	34573423
Hydatidiform Mole	Associate	29693651, 32592075, 32928291
Infertility	Associate	29693651, 32928291, 34036456, 36088419
Infertility Female	Associate	32928291, 34036456
Melanoma	Associate	24188633
Paroxysmal ventricular fibrillation	Associate	29693651
Pre Eclampsia	Associate	35296332
Renal Insufficiency	Associate	32592075, 34036456, 35946397
Reproductive Tract Infections	Associate	29693651

PADI6 (peptidyl arginine deiminase 6)