Human (GRCh38.p14)
Description

ERCC excision repair 2, TFIIH core complex helicase subunit [Source:HGNC Symbol;Acc:HGNC:3434]

Gene Synonyms

EM9, MAG, MGC102762, MGC126218, MGC126219, XPD

Location

Chromosome 19: 45,349,837-45,370,918 reverse strand.

GRCh38:CM000681.2

About this gene

This gene has 20 transcripts (splice variants), 197 orthologues, 3 paralogues and is associated with 73 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000391945.10ERCC2-2044108760aaENSP00000375809.4
 
Protein coding
CCDS33049P18074-1 NM_000400.4MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000684407.1ERCC2-2184013719aaENSP00000507775.1
 
Protein coding
A0A804HK53 -GENCODE basic
ENST00000391941.6ERCC2-2012871706aaENSP00000375805.2
 
Protein coding
A8MX75 -TSL:1CDS 3' incomplete
ENST00000391944.8ERCC2-2032853829aaENSP00000375808.4
 
Protein coding
E7EVE9 -GENCODE basicTSL:1
ENST00000485403.6ERCC2-2051538405aaENSP00000431229.2
 
Protein coding
CCDS46112P18074-2 -GENCODE basicTSL:1
ENST00000586131.6ERCC2-2061015292aaENSP00000464887.1
 
Protein coding
K7EIT8 -TSL:3CDS 3' incomplete
ENST00000586856.1ERCC2-209690109aaENSP00000466998.1
 
Protein coding
K7ENL1 -TSL:5CDS 3' incomplete
ENST00000684218.1ERCC2-2163989205aaENSP00000507804.1
 
Nonsense mediated decay
A0A804HK75 --
ENST00000684458.1ERCC2-2193979459aaENSP00000508260.1
 
Nonsense mediated decay
A0A804HL97 --
ENST00000682414.1ERCC2-2143110760aaENSP00000507019.1
 
Nonsense mediated decay
CCDS33049P18074-1 --
ENST00000587376.6ERCC2-210823202aaENSP00000465593.1
 
Nonsense mediated decay
K7EKF3 -TSL:5CDS 5' incomplete
ENST00000591309.5ERCC2-212557127aaENSP00000465207.1
 
Nonsense mediated decay
B4E0F6 -TSL:4
ENST00000682508.1ERCC2-2154094No protein-
 
Retained intron
---
ENST00000684468.1ERCC2-2203777No protein-
 
Retained intron
---
ENST00000684264.1ERCC2-2173621No protein-
 
Retained intron
---
ENST00000646507.1ERCC2-2133119No protein-
 
Retained intron
---
ENST00000588652.5ERCC2-2112405No protein-
 
Retained intron
--TSL:2
ENST00000391942.6ERCC2-2021488No protein-
 
Retained intron
--TSL:2
ENST00000586441.1ERCC2-207682No protein-
 
Retained intron
--TSL:5
ENST00000586737.5ERCC2-208481No protein-
 
Retained intron
--TSL:5