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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	353238
Gene name Gene Name - the full gene name approved by the HGNC.	Peptidyl arginine deiminase 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PADI6
Synonyms (NCBI Gene) Gene synonyms aliases	OZEMA16, PREMBL2, hPADVI
Disease Acronyms (UniProt) Disease acronyms from UniProt database	OZEMA16
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1p36.13
Summary Summary of gene provided in NCBI Entrez Gene.	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(11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004668	Function	Protein-arginine deiminase activity	IBA	21873635
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	IDA	27545678
GO:0007010	Process	Cytoskeleton organization	IEA
GO:0007028	Process	Cytoplasm organization	IEA
GO:0036414	Process	Histone citrullination	IBA	21873635
GO:0043143	Process	Regulation of translation by machinery localization	IEA
GO:0045111	Component	Intermediate filament cytoskeleton	IEA

MIM	HGNC	e!Ensembl
610363	20449	ENSG00000276747

Protein

UniProt ID

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 (4)

Disease term	Disease name	dbSNP ID	References
Causal
Basal cell neoplasm	Basal Cell Neoplasm, Basal Cell Cancer	rs587776578, rs587776579, rs2117956624, rs2118419579, rs2118365442, rs2118041703, rs2136689212, rs2118336503, rs1587692888, rs267606984, rs878853849, rs1554695110, rs1064793921, rs1588605348, rs1588568813	18849993, 24403052, 25855136
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451 View all (71 more)	29059683
Carcinoma	Basal cell carcinoma, Carcinoma, Basal Cell	rs121912654, rs555607708, rs786202962, rs1564055259	25855136, 24403052, 18849993
Preimplantation embryonic lethality	PREIMPLANTATION EMBRYONIC LETHALITY 2	rs767222404, rs1057517681, rs1057517682, rs775156958, rs1057517683, rs1057517684, rs776453307, rs752098612	27545678

Show/Hide Unknown Diseases (3)

Disease term	Disease name	Evidence	References	Source
Unknown
Nasopharyngeal carcinoma	Nasopharyngeal carcinoma	These data suggest that KAT7 can contribute NPC cell growth and survival through up-regulation of NPC-essential genes.	20512145	ClinVar, CBGDA
Preimplantation Embryonic Lethality	preimplantation embryonic lethality 2			GenCC
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients		GWAS, CBGDA

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References
Associations from Text Mining
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)