1. Gene
  2. PADI6 - peptidyl arginine deiminase 6 Gene

PADI6 - peptidyl arginine deiminase 6 Gene

Homo sapiens

Also known as hPADVI; PREMBL2

Gene ID: 353238 | Gene type: protein coding

About PADI6

Cytogenetic location: 1p36.13 Genomic coordinates (GRCh38): 1:17,372,196-17,401,699 (from NCBI)

This gene has 1 transcript (splice variant), 1 gene allele, 240 orthologues, 4 paralogues and is associated with 1 phenotype. Low expression observed in reference dataset.

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 distinct substrate specificities and tissue-specific expression patterns. This protein may play a role in cytoskeletal reorganization in the egg and in early embryo development. [provided by RefSeq, Sep 2012]

PADI6 Products(1)

mRNA Protein Name
NM_207421.4 NP_997304.3 protein-arginine deiminase type-6
Gene Ontology
  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Cellular Component GO Annotation Evidence Reference Source
located in cytoplasm IDA
IDA: Inferred from direct assay
27545678 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

protein-arginine deiminase type-6

peptidyl arginine deiminase, type VI

Related Diseases

Diseases Alias
Preimplantation Embryonic Lethality 2

PREMBL2

Lethality, Embryonic, Preimplantation, Type 2

Infertility
Beckwith-Wiedemann Syndrome

Wiedemann-Beckwith Syndrome

BWS

Exomphalos-Macroglossia-Gigantism Syndrome

Emg Syndrome

Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation

Emg Abnormality

Wbs

Exomphalos Macroglossia Gigantism Syndrome

Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation

Macroglossia Exomphalos Gigantism

Gestational Trophoblastic Neoplasm

Hydatidiform Mole

Molar Pregnancy

Gestational Trophoblastic Neoplasia

Gestational Trophoblastic Tumor

Gtn

Gestational Trophoblastic Disease

Gestational Trophoblastic Neoplasms

Hydatidiform Mole, Recurrent, 1

Hydatidiform Mole Benign

Trophoblastic Disease

Trophoblastic Disease Nos

Trophoblastic Disorder

Vesicular Mole Nos

Vesicular Mole

Hydatidiform Mole Nos

Trophoblastic Neoplasm

Trophoblastic Tumor

Trophoblastic Neoplasms

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus PADI6 VGNC VGNC:32549
Rattus norvegicus PADI6 RGD RGD:1560424
Macaca mulatta PADI6 VGNC VGNC:75657
Felis catus PADI6 VGNC VGNC:64023
Mus musculus PADI6 MGD MGI:2655198
Canis familiaris PADI6 VGNC VGNC:44238
Others PADI6 NCBI