Functions and Diseases

RBP Type Canonical_RBPs
Diseases Disease
Drug N.A.
Main interacting RNAs N.A.
Moonlighting functions Metabolic enzyme
Localizations N.A.
BulkPerturb-seq

Description

Ensembl ID ENSG00000104884 Gene ID 2068 Accession 3434
Symbol ERCC2 Alias EM9;TTD;XPD;TTD1;COFS2;TFIIH Full Name ERCC excision repair 2, TFIIH core complex helicase subunit
Status Confidence Length 21082 bases Strand Minus strand
Position 19 : 45349837 - 45370918 RNA binding domain ResIII
Summary The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

RNA binding domains (RBDs)

Protein Domain Pfam ID E-value Domain number
ENSP00000465207 ResIII PF04851 0.00025 1

RNA binding proteomes (RBPomes)

Pubmed ID Full Name Cell Author Time Doi

Literatures on RNA binding capacity

Pubmed ID Title Author Time Journal

Transcripts

Name Transcript ID bp Protein Translation ID
ERCC2-204 ENST00000391945 4108 760aa ENSP00000375809
ERCC2-217 ENST00000684264 3621 No protein -
ERCC2-220 ENST00000684468 3777 No protein -
ERCC2-216 ENST00000684218 3989 205aa ENSP00000507804
ERCC2-218 ENST00000684407 4013 719aa ENSP00000507775
ERCC2-219 ENST00000684458 3979 459aa ENSP00000508260
ERCC2-215 ENST00000682508 4094 No protein -
ERCC2-214 ENST00000682414 3110 760aa ENSP00000507019
ERCC2-213 ENST00000646507 3119 No protein -
ERCC2-203 ENST00000391944 2853 829aa ENSP00000375808
ERCC2-211 ENST00000588652 2405 No protein -
ERCC2-202 ENST00000391942 1488 No protein -
ERCC2-201 ENST00000391941 2871 706aa ENSP00000375805
ERCC2-210 ENST00000587376 823 202aa ENSP00000465593
ERCC2-205 ENST00000485403 1538 405aa ENSP00000431229
ERCC2-206 ENST00000586131 1015 292aa ENSP00000464887
ERCC2-212 ENST00000591309 557 127aa ENSP00000465207
ERCC2-208 ENST00000586737 481 No protein -
ERCC2-207 ENST00000586441 682 No protein -
ERCC2-209 ENST00000586856 690 109aa ENSP00000466998

Gene Model

Pathways

Pathway ID Pathway Name Source

Phenotypes

ensgID Trait pValue Pubmed ID
73531Lung Neoplasms9E-723108145

GWAS

ensgIDSNPChromosomePosition TraitPubmedIDOr or BEAT EFO ID

Protein-Protein Interaction (PPI)

Paralogs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Orthologs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Gene Ontology

Go ID Go term No. evidence Entries Species Category
GO:0000439part_of transcription factor TFIIH core complex1IDAHomo_sapiens(9606)Component
GO:0000462involved_in maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)1IEAHomo_sapiens(9606)Process
GO:0001666involved_in response to hypoxia1IEAHomo_sapiens(9606)Process
GO:0001701involved_in in utero embryonic development1IEAHomo_sapiens(9606)Process
GO:0003678enables DNA helicase activity1IBAHomo_sapiens(9606)Function
GO:0003684enables damaged DNA binding1IBAHomo_sapiens(9606)Function
GO:0005515enables protein binding1IPIHomo_sapiens(9606)Function
GO:0005524enables ATP binding1IEAHomo_sapiens(9606)Function
GO:0005634is_active_in nucleus2IBA,IDAHomo_sapiens(9606)Component
GO:0005654located_in nucleoplasm2IDA,TASHomo_sapiens(9606)Component
GO:0005669part_of transcription factor TFIID complex1IDAHomo_sapiens(9606)Component
GO:0005675part_of transcription factor TFIIH holo complex2IDA,TASHomo_sapiens(9606)Component
GO:0005737located_in cytoplasm1IDAHomo_sapiens(9606)Component
GO:0005819located_in spindle1IDAHomo_sapiens(9606)Component
GO:0005829located_in cytosol1IDAHomo_sapiens(9606)Component
GO:0006283involved_in transcription-coupled nucleotide-excision repair2IDA,TASHomo_sapiens(9606)Process
GO:0006289involved_in nucleotide-excision repair2IMP,NASHomo_sapiens(9606)Process
GO:0006362involved_in transcription elongation by RNA polymerase I1IEAHomo_sapiens(9606)Process
GO:0006366involved_in transcription by RNA polymerase II3IBA,IDA,TASHomo_sapiens(9606)Process
GO:0006915involved_in apoptotic process1IMPHomo_sapiens(9606)Process
GO:0006979involved_in response to oxidative stress1IMPHomo_sapiens(9606)Process
GO:0007059involved_in chromosome segregation1IMPHomo_sapiens(9606)Process
GO:0008340involved_in determination of adult lifespan1IEAHomo_sapiens(9606)Process
GO:0009650involved_in UV protection1IEAHomo_sapiens(9606)Process
GO:0009791involved_in post-embryonic development1IEAHomo_sapiens(9606)Process
GO:0016887enables ATP hydrolysis activity1IEAHomo_sapiens(9606)Function
GO:0021510involved_in spinal cord development1IEAHomo_sapiens(9606)Process
GO:0030198involved_in extracellular matrix organization1IEAHomo_sapiens(9606)Process
GO:0030282involved_in bone mineralization1IEAHomo_sapiens(9606)Process
GO:0030674enables protein-macromolecule adaptor activity1IPIHomo_sapiens(9606)Function
GO:0032289involved_in central nervous system myelin formation1IEAHomo_sapiens(9606)Process
GO:0032508involved_in DNA duplex unwinding1IEAHomo_sapiens(9606)Process
GO:0035264involved_in multicellular organism growth1IEAHomo_sapiens(9606)Process
GO:0035315involved_in hair cell differentiation1IMPHomo_sapiens(9606)Process
GO:0040016involved_in embryonic cleavage1IEAHomo_sapiens(9606)Process
GO:0043139enables 5-3 DNA helicase activity2IDA,TASHomo_sapiens(9606)Function
GO:0043249involved_in erythrocyte maturation1IEAHomo_sapiens(9606)Process
GO:0043388involved_in positive regulation of DNA binding1IEAHomo_sapiens(9606)Process
GO:0045951involved_in positive regulation of mitotic recombination1IBAHomo_sapiens(9606)Process
GO:0046872enables metal ion binding1IEAHomo_sapiens(9606)Function
GO:0048009involved_in insulin-like growth factor receptor signaling pathway1IEAHomo_sapiens(9606)Process
GO:0048568involved_in embryonic organ development1IEAHomo_sapiens(9606)Process
GO:0048820involved_in hair follicle maturation1IEAHomo_sapiens(9606)Process
GO:0051539enables 4 iron, 4 sulfur cluster binding1IEAHomo_sapiens(9606)Function
GO:0060218involved_in hematopoietic stem cell differentiation1IEAHomo_sapiens(9606)Process
GO:0070516part_of CAK-ERCC2 complex1IDAHomo_sapiens(9606)Component
GO:0071425involved_in hematopoietic stem cell proliferation1IEAHomo_sapiens(9606)Process
GO:0071817part_of MMXD complex1IDAHomo_sapiens(9606)Component
GO:0072332involved_in intrinsic apoptotic signaling pathway by p53 class mediator1IEAHomo_sapiens(9606)Process
GO:1901990involved_in regulation of mitotic cell cycle phase transition1IMPHomo_sapiens(9606)Process

Expression