GenTIGS

Paired box 3 (PAX3) Associated conditions: 1. Waardenburg syndrome 2. Congenital diaphragmatic hernia

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_000438.6	NP_000429.2	NC_000002.12	(222199886..222298997, complement)	Reference GRCh38.p14 Primary Assembly	P23760
2	REVIEWED	NM_001127366.3	NP_001120838.1	NC_000002.12	(222199886..222298997, complement)	Reference GRCh38.p14 Primary Assembly	P23760
3	REVIEWED	NM_013942.5	NP_039230.1	NC_000002.12	(222199886..222298997, complement)	Reference GRCh38.p14 Primary Assembly	P23760
4	REVIEWED	NM_181457.4	NP_852122.1	NC_000002.12	(222199886..222298997, complement)	Reference GRCh38.p14 Primary Assembly	P23760
5	REVIEWED	NM_181458.4	NP_852123.1	NC_000002.12	(222199886..222298997, complement)	Reference GRCh38.p14 Primary Assembly	P23760
6	REVIEWED	NM_181459.4	NP_852124.1	NC_000002.12	(222199886..222298997, complement)	Reference GRCh38.p14 Primary Assembly	P23760
7	REVIEWED	NM_181460.4	NP_852125.1	NC_000002.12	(222199886..222298997, complement)	Reference GRCh38.p14 Primary Assembly	P23760
8	REVIEWED	NM_181461.4	NP_852126.1	NC_000002.12	(222199886..222298997, complement)	Reference GRCh38.p14 Primary Assembly	P23760

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 1258 reference articles

Variant Information Paired box 3 (PAX3) Mutation Visualization Dashboard: Pathogenic variant distribution chart

ClinVar variants:Revealing mutagenic patterns

GO Term of Paired box 3 (PAX3)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	ISA	located_in	chromatin	Component	-
2	Homo sapiens	IBA	enables	RNA polymerase II cis-regulatory region sequence-specific DNA binding	Function	-
3	Homo sapiens	IBA	enables	DNA-binding transcription factor activity, RNA polymerase II-specific	Function	-
4	Homo sapiens	IEA	enables	DNA-binding transcription factor activity, RNA polymerase II-specific	Function	-
5	Homo sapiens	ISA	enables	DNA-binding transcription factor activity, RNA polymerase II-specific	Function	-
6	Homo sapiens	IEA	enables	DNA binding	Function	-
7	Homo sapiens	TAS	enables	DNA-binding transcription factor activity	Function	9500554
8	Homo sapiens	IPI	enables	protein binding	Function	11029584 11423130 32296183
9	Homo sapiens	IBA	is_active_in	nucleus	Component	-
10	Homo sapiens	IEA	located_in	nucleus	Component	-
11	Homo sapiens	IDA	located_in	nucleoplasm	Component	-
12	Homo sapiens	TAS	located_in	nucleoplasm	Component	-
13	Homo sapiens	IEA	involved_in	regulation of DNA-templated transcription	Process	-
14	Homo sapiens	IBA	involved_in	regulation of transcription by RNA polymerase II	Process	-
15	Homo sapiens	TAS	involved_in	apoptotic process	Process	10871843
16	Homo sapiens	IBA	involved_in	nervous system development	Process	-
17	Homo sapiens	IEA	involved_in	nervous system development	Process	-
18	Homo sapiens	IEA	involved_in	muscle organ development	Process	-
19	Homo sapiens	TAS	involved_in	sensory perception of sound	Process	9500554
20	Homo sapiens	IEA	involved_in	anatomical structure morphogenesis	Process	-
21	Homo sapiens	TAS	involved_in	animal organ morphogenesis	Process	8447316
22	Homo sapiens	IDA	enables	sequence-specific DNA binding	Function	11863357
23	Homo sapiens	IDA	acts_upstream_of_or_within	positive regulation of DNA-templated transcription	Process	11863357
24	Homo sapiens	IDA	acts_upstream_of_or_within	positive regulation of transcription by RNA polymerase II	Process	11863357
25	Homo sapiens	IDA	enables	sequence-specific double-stranded DNA binding	Function	28473536