GenTIGS

Retina and anterior neural fold homeobox 2 (RAX2) Associated conditions: 1. Retinitis pigmentosa

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_001319074.4	NP_001306003.2	NC_000019.10	(3769088..3772227, complement)	Reference GRCh38.p14 Primary Assembly	Q96IS3
2	REVIEWED	NM_032753.4	NP_116142.1	NC_000019.10	(3769088..3772227, complement)	Reference GRCh38.p14 Primary Assembly	Q96IS3

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 16 reference articles

Variant Information Retina and anterior neural fold homeobox 2 (RAX2) Mutation Visualization Dashboard: Pathogenic variant distribution chart

ClinVar variants:Revealing mutagenic patterns

GO Term of Retina and anterior neural fold homeobox 2 (RAX2)

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	IDA	enables	RNA polymerase II cis-regulatory region sequence-specific DNA binding	Function	15028672
4	Homo sapiens	IBA	enables	DNA-binding transcription factor activity, RNA polymerase II-specific	Function	-
5	Homo sapiens	IEA	enables	DNA-binding transcription factor activity, RNA polymerase II-specific	Function	-
6	Homo sapiens	ISA	enables	DNA-binding transcription factor activity, RNA polymerase II-specific	Function	-
7	Homo sapiens	IDA	enables	DNA-binding transcription activator activity, RNA polymerase II-specific	Function	15028672
8	Homo sapiens	IEA	enables	DNA binding	Function	-
9	Homo sapiens	IBA	is_active_in	nucleus	Component	-
10	Homo sapiens	IEA	located_in	nucleus	Component	-
11	Homo sapiens	IEA	involved_in	regulation of DNA-templated transcription	Process	-
12	Homo sapiens	IBA	involved_in	regulation of transcription by RNA polymerase II	Process	-
13	Homo sapiens	IEA	involved_in	visual perception	Process	-
14	Homo sapiens	IDA	involved_in	positive regulation of transcription by RNA polymerase II	Process	15028672
15	Homo sapiens	IEA	involved_in	positive regulation of transcription by RNA polymerase II	Process	-