Human (GRCh37.p13)
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.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000392701.3GALNT3-0013868633aaENSP00000376465.3
 
Protein coding
CCDS2226C9J2C3 C9J388 C9JW45
C9JXX2 Q14435
NM_004482.3Ensembl CanonicalGENCODE Basic
ENST00000409882.1GALNT3-0102107371aaENSP00000386955.1
 
Protein coding
E7EUL0 -GENCODE Basic
ENST00000412248.1GALNT3-0041954464aaENSP00000412643.1
 
Protein coding
C9J2C3 C9J388 C9JW45
C9JXX2
-CDS 3' incomplete
ENST00000447156.1GALNT3-00657011aaENSP00000399880.1
 
Protein coding
--CDS 3' incomplete
ENST00000414977.1GALNT3-00255957aaENSP00000413477.1
 
Protein coding
C9JW45 C9JXX2 -CDS 3' incomplete
ENST00000431484.1GALNT3-00554090aaENSP00000397112.1
 
Protein coding
C9J388 C9JW45 C9JXX2
-CDS 3' incomplete
ENST00000422973.1GALNT3-00353625aaENSP00000413694.1
 
Protein coding
C9JW45 -CDS 3' incomplete
ENST00000437849.1GALNT3-00779989aaENSP00000391104.1
 
Nonsense mediated decay
H7BZS4 -CDS 5' incomplete
ENST00000463254.1GALNT3-008603No protein-
 
Retained intron
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