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Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
Ontologies
Phenotypes
Genetic Variation
Gene expression
Pathway
Molecular interactions
Regulation
External references
Supporting evidence
ID History
- Gene history

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Gene: PAX4 ENSG00000106331

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Description

paired box 4 [Source:HGNC Symbol;Acc:8618]

Gene Synonyms

KPD, MODY9

Location

Chromosome 7: 127,250,346-127,255,982 reverse strand.

GRCh37:CM000669.1

About this gene

This gene has 6 transcripts (splice variants), 8 paralogues and is associated with 5 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000341640.2	PAX4-001	2010	343aa	ENSP00000339906.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS5797	O43316	NM_006193.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000338516.3	PAX4-201	1772	273aa	ENSP00000344297.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding		O43316	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000463946.1	PAX4-002	1613	341aa	ENSP00000451923.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		G3V4Q1	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000378740.2	PAX4-004	1088	340aa	ENSP00000368014.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding		J3KPG0	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000483494.1	PAX4-003	1565	257aa	ENSP00000473846.1	Nonsense mediated decay		Q3KNR5	-	-
ENST00000477423.1	PAX4-005	935	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

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Summary

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