Gene: GALNT3 ENSG00000115339

Description

UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) [Source:HGNC Symbol;Acc:4125]

Gene Synonyms

GalNAc-T3, HFTC, HHS

Location

Chromosome 2: 166,604,101-166,651,192 reverse strand.

GRCh37:CM000664.1

About this gene

This gene has 9 transcripts (splice variants), 16 paralogues and is associated with 3 phenotypes.

Transcripts

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Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000392701.3	GALNT3-001	3868	633aa	ENSP00000376465.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS2226	C9J2C3 C9J388 C9JW45 C9JXX2 Q14435	NM_004482.3	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000409882.1	GALNT3-010	2107	371aa	ENSP00000386955.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E7EUL0	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000412248.1	GALNT3-004	1954	464aa	ENSP00000412643.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		C9J2C3 C9J388 C9JW45 C9JXX2	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000447156.1	GALNT3-006	570	11aa	ENSP00000399880.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000414977.1	GALNT3-002	559	57aa	ENSP00000413477.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		C9JW45 C9JXX2	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000431484.1	GALNT3-005	540	90aa	ENSP00000397112.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		C9J388 C9JW45 C9JXX2	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000422973.1	GALNT3-003	536	25aa	ENSP00000413694.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		C9JW45	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000437849.1	GALNT3-007	799	89aa	ENSP00000391104.1	Nonsense mediated decay		H7BZS4	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000463254.1	GALNT3-008	603	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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Gene: GALNT3 ENSG00000115339

Summary