GenTIGS

Interferon regulatory factor 6 (IRF6) Associated conditions: 1. Popliteal pterygium syndrome 2. Van der Woude syndrome 1

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_001206696.2	NP_001193625.1	NC_000001.11	(209785616..209806141, complement)	Reference GRCh38.p14 Primary Assembly	O14896
2	REVIEWED	NM_006147.4	NP_006138.1	NC_000001.11	(209785616..209806141, complement)	Reference GRCh38.p14 Primary Assembly	O14896

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 1192 reference articles

Variant Information Interferon regulatory factor 6 (IRF6) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Interferon regulatory factor 6 (IRF6)

ClinVar variants:Revealing mutagenic patterns

GO Term of Interferon regulatory factor 6 (IRF6)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	ISA	part_of	chromatin	Component	-
2	Homo sapiens	IBA	enables	RNA polymerase II cis-regulatory region sequence-specific DNA binding	Function	21873635
3	Homo sapiens	IBA	enables	DNA-binding transcription factor activity, RNA polymerase II-specific	Function	21873635
4	Homo sapiens	ISA	enables	DNA-binding transcription factor activity, RNA polymerase II-specific	Function	-
5	Homo sapiens	IEA	enables	DNA-binding transcription activator activity, RNA polymerase II-specific	Function	-
6	Homo sapiens	IBA	involved_in	immune system process	Process	21873635
7	Homo sapiens	ISS	enables	DNA binding	Function	-
8	Homo sapiens	ISS	enables	DNA-binding transcription factor activity	Function	-
9	Homo sapiens	IPI	enables	protein binding	Function	16049006 21903422
10	Homo sapiens	IBA	is_active_in	nucleus	Component	21873635
11	Homo sapiens	IDA	located_in	cytoplasm	Component	16049006 18212048
12	Homo sapiens	TAS	located_in	cytosol	Component	-
13	Homo sapiens	IBA	involved_in	regulation of transcription by RNA polymerase II	Process	21873635
14	Homo sapiens	IDA	involved_in	negative regulation of cell population proliferation	Process	18212048
15	Homo sapiens	IEA	involved_in	negative regulation of keratinocyte proliferation	Process	-
16	Homo sapiens	IEA	involved_in	keratinocyte differentiation	Process	-
17	Homo sapiens	IDA	enables	sequence-specific DNA binding	Function	28473536
18	Homo sapiens	IEA	involved_in	keratinocyte proliferation	Process	-
19	Homo sapiens	ISS	involved_in	positive regulation of DNA-templated transcription	Process	-
20	Homo sapiens	IDA	involved_in	positive regulation of transcription by RNA polymerase II	Process	21807998
21	Homo sapiens	IEA	involved_in	cell development	Process	-
22	Homo sapiens	IEA	involved_in	roof of mouth development	Process	-
23	Homo sapiens	IEA	involved_in	limb development	Process	-
24	Homo sapiens	ISS	involved_in	mammary gland epithelial cell differentiation	Process	-
25	Homo sapiens	HDA	located_in	extracellular exosome	Component	19056867
26	Homo sapiens	IEA	involved_in	stem cell proliferation	Process	-
27	Homo sapiens	IEA	involved_in	cranial skeletal system development	Process	-
28	Homo sapiens	IDA	enables	sequence-specific double-stranded DNA binding	Function	28473536
29	Homo sapiens	IEA	involved_in	negative regulation of stem cell proliferation	Process	-