H-InvDB x AHG DB
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H-InvDB_9.0 released on May 27, 2015.
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H-Inv cluster ID: HIX0015230 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: TFIIH basal transcription factor complex helicase XPD subunit; EC=3.6.4.12; Basic transcription factor 2 80 kDa subunit; BTF2 p80; CXPD; DNA excision repair protein ERCC-2; DNA repair protein complementing XP-D cells; TFIIH basal transcription factor complex 80 kDa subunit; TFIIH 80 kDa subunit; TFIIH p80; Xeroderma pigmentosum group D-complementing protein;
 
 

Gene structure  G-integra H-DBAS
H-Inv cluster ID HIX0015230
Genomic location  G-integra Help Chromosome 19
Location 19q13.32
Position 45853095- 45874176
Strand -
Antisense cluster ID(s) HIX0022361 overlap at CDSs (all)
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:2068
KEGG GENES KEGG GENES(2068)
GeneCard GeneCardERCC2*GeneCards is provided free to academic non-profit institutions.
etc H-GOLDHuman-Gene diversity Of Life-style related Diseases
Cluster member H-Inv ID(s) HIT000338997HIT000033733HIT000099803HIT000339587HIT000339586HIT000321738
Additional cluster member candidate(s) NA
Related H-InvDB links H-DBASH-DBAS G-integraG-integra cDNA multiple alignmentcDNA-genome multiple alignment ORF multiple alignmentORF multiple alignment
Mini-G Locus map Locus map

 
TOP 1-6 LAST 
Cluster member (s)  G-integra H-DBAS
Locus member number 1
H-Inv ID Transcript viewHIT000338997
Accession number BC108255.1
CAGE tag ID NA
EST ID NA
Coding potential Protein coding; 
Definition TFIIH basal transcription factor complex helicase XPD subunit; EC=3.6.4.12; Basic transcription factor 2 80 kDa subunit; BTF2 p80; CXPD; DNA excision repair protein ERCC-2; DNA repair protein complementing XP-D cells; TFIIH basal transcription factor complex 80 kDa subunit; TFIIH 80 kDa subunit; TFIIH p80; Xeroderma pigmentosum group D-complementing protein;
Similarity category  Help Category: Identical to known human protein(Category I).
Identical to known human protein (P18074)  [Identity/coverage = 100.0%/100.0%] to Homo sapiens (Human). protein.
Gene symbol/name HGNC symbol ERCC2 
HGNC aliases "xeroderma pigmentosum complementary group D", "excision repair cross-complementing rodent repair deficiency, complementation group 2" 
HGNC name excision repair cross-complementation group 2 
Transcript feature Representative H-Inv IDRepresentative transcript; 
Genomic location  G-integra Chromosome 19
Location 19q13.32
Position 45854852- 45873490
Strand -
Gene structure 22 exons
 
TOP 1-6 LAST 
Locus member number 2
H-Inv ID Transcript viewHIT000033733
Accession number BC008346.1
CAGE tag ID NA
EST ID NA
Coding potential Protein coding; 
Definition Similar to TFIIH basal transcription factor complex helicase XPD subunit; EC=3.6.4.12; Basic transcription factor 2 80 kDa subunit; BTF2 p80; CXPD; DNA excision repair protein ERCC-2; DNA repair protein complementing XP-D cells; TFIIH basal transcription factor complex 80 kDa subunit; TFIIH 80 kDa subunit; TFIIH p80; Xeroderma pigmentosum group D-complementing protein;
Similarity category  Help Category: Similar to known protein(Category II).
Similar to known protein (P18074)  [Identity/coverage = 99.754%/53.42%] to Homo sapiens (Human). protein.
Gene symbol/name HGNC symbol ERCC2 
HGNC aliases "xeroderma pigmentosum complementary group D", "excision repair cross-complementing rodent repair deficiency, complementation group 2" 
HGNC name excision repair cross-complementation group 2 
Transcript feature Splicing isoformSplicing isoform
Genomic location  G-integra Chromosome 19
Location 19q13.32
Position 45862024- 45873642
Strand -
Gene structure 12 exons
 
TOP 1-6 LAST 
Locus member number 3
H-Inv ID Transcript viewHIT000099803
Accession number BT006883.1
CAGE tag ID NA
EST ID NA
Coding potential Protein coding; 
Definition Similar to TFIIH basal transcription factor complex helicase XPD subunit; EC=3.6.4.12; Basic transcription factor 2 80 kDa subunit; BTF2 p80; CXPD; DNA excision repair protein ERCC-2; DNA repair protein complementing XP-D cells; TFIIH basal transcription factor complex 80 kDa subunit; TFIIH 80 kDa subunit; TFIIH p80; Xeroderma pigmentosum group D-complementing protein;
Similarity category  Help Category: Similar to known protein(Category II).
Similar to known protein (P18074)  [Identity/coverage = 100.0%/51.18%] to Homo sapiens (Human). protein.
Gene symbol/name HGNC symbol ERCC2 
HGNC aliases "xeroderma pigmentosum complementary group D", "excision repair cross-complementing rodent repair deficiency, complementation group 2" 
HGNC name excision repair cross-complementation group 2 
Transcript feature NA
Genomic location  G-integra Chromosome 19
Location 19q13.32
Position 45862119- 45873423
Strand -
Gene structure 12 exons
 
TOP 1-6 LAST 
Locus member number 4
H-Inv ID Transcript viewHIT000339587
Accession number BC110523.1
CAGE tag ID NA
EST ID NA
Coding potential Protein coding; 
Definition TFIIH basal transcription factor complex helicase XPD subunit; EC=3.6.4.12; Basic transcription factor 2 80 kDa subunit; BTF2 p80; CXPD; DNA excision repair protein ERCC-2; DNA repair protein complementing XP-D cells; TFIIH basal transcription factor complex 80 kDa subunit; TFIIH 80 kDa subunit; TFIIH p80; Xeroderma pigmentosum group D-complementing protein;
Similarity category  Help Category: Identical to known human protein(Category I).
Identical to known human protein (P18074)  [Identity/coverage = 99.868%/100.0%] to Homo sapiens (Human). protein.
Gene symbol/name HGNC symbol ERCC2 
HGNC aliases "xeroderma pigmentosum complementary group D", "excision repair cross-complementing rodent repair deficiency, complementation group 2" 
HGNC name excision repair cross-complementation group 2 
Transcript feature Splicing isoformSplicing isoform
Genomic location  G-integra Chromosome 19
Location 19q13.32
Position 45854861- 45873826
Strand -
Gene structure 23 exons
 
TOP 1-6 LAST 
Locus member number 5
H-Inv ID Transcript viewHIT000339586
Accession number BC110522.1
CAGE tag ID NA
EST ID NA
Coding potential Protein coding; 
Definition Similar to TFIIH basal transcription factor complex helicase XPD subunit; EC=3.6.4.12; Basic transcription factor 2 80 kDa subunit; BTF2 p80; CXPD; DNA excision repair protein ERCC-2; DNA repair protein complementing XP-D cells; TFIIH basal transcription factor complex 80 kDa subunit; TFIIH 80 kDa subunit; TFIIH p80; Xeroderma pigmentosum group D-complementing protein;
Similarity category  Help Category: Similar to known protein(Category II).
Similar to known protein (P18074)  [Identity/coverage = 99.691%/95.39%] to Homo sapiens (Human). protein.
Gene symbol/name HGNC symbol ERCC2 
HGNC aliases "xeroderma pigmentosum complementary group D", "excision repair cross-complementing rodent repair deficiency, complementation group 2" 
HGNC name excision repair cross-complementation group 2 
Transcript feature Splicing isoformSplicing isoform
Genomic location  G-integra Chromosome 19
Location 19q13.32
Position 45854861- 45873826
Strand -
Gene structure 21 exons
 
TOP 1-6 LAST 
Locus member number 6
H-Inv ID Transcript viewHIT000321738
Accession number X52221.1
CAGE tag ID NA
EST ID NA
Coding potential Protein coding; 
Definition Similar to TFIIH basal transcription factor complex helicase XPD subunit; EC=3.6.4.12; Basic transcription factor 2 80 kDa subunit; BTF2 p80; CXPD; DNA excision repair protein ERCC-2; DNA repair protein complementing XP-D cells; TFIIH basal transcription factor complex 80 kDa subunit; TFIIH 80 kDa subunit; TFIIH p80; Xeroderma pigmentosum group D-complementing protein;
Similarity category  Help Category: Similar to known protein(Category II).
Similar to known protein (P18074)  [Identity/coverage = 99.863%/95.92%] to Homo sapiens (Human). protein.
Gene symbol/name HGNC symbol ERCC2 
HGNC aliases "xeroderma pigmentosum complementary group D", "excision repair cross-complementing rodent repair deficiency, complementation group 2" 
HGNC name excision repair cross-complementation group 2 
Transcript feature Splicing isoformSplicing isoform
Genomic location  G-integra Chromosome 19
Location 19q13.32
Position 45855466- 45874176
Strand -
Gene structure 21 exons

Alternative splicing (AS) information  G-integra H-DBAS
Pattern of alternative splicing isoforms 5' terminal AS;  Internal AS; 
Position of alternative splicing isoforms Cassette;  Retained intron; 
Alternative splicing isoform H-Inv ID(s) Splicing isoformHIT000339587Splicing isoformHIT000033733Splicing isoformHIT000321738Splicing isoformHIT000339586
Related H-InvDB links H-DBASH-DBAS G-integraG-integra cDNA multiple alignmentcDNA-genome multiple alignment ORF multiple alignmentORF multiple alignment

Gene function information  G-integra PPI viewer H-DBAS Gene family Similarity Search Tool TACT
H-Inv cluster ID HIX0015230
Representative H-Inv ID Representative H-Inv IDHIT000338997
Accession number BC108255.1
CAGE tag ID NA
EST ID NA
Coding potential Protein coding; 
Definition TFIIH basal transcription factor complex helicase XPD subunit; EC=3.6.4.12; Basic transcription factor 2 80 kDa subunit; BTF2 p80; CXPD; DNA excision repair protein ERCC-2; DNA repair protein complementing XP-D cells; TFIIH basal transcription factor complex 80 kDa subunit; TFIIH 80 kDa subunit; TFIIH p80; Xeroderma pigmentosum group D-complementing protein;
Similarity category  Help Category: Identical to known human protein(Category I).
Identical to known human protein (P18074)  [Identity/coverage = 100.0%/100.0%] to Homo sapiens (Human). protein.
Gene family/group Gene family H-Inv gene family/group ID NA
Gene family/group name NA
Evidence motif (InterPro) ID NA
Gene symbol/name HGNC symbol ERCC2 
HGNC aliases "xeroderma pigmentosum complementary group D", "excision repair cross-complementing rodent repair deficiency, complementation group 2" 
HGNC name excision repair cross-complementation group 2 
Protein-protein interaction (PPI) PPI viewer H-Inv protein ID HIP000068372
No. of interaction 4
Interaction partner(s) HIP000054389HIP000112294HIP000136548HIP000169820
BIND NA
DIP 102682E;  102687E;  40186E;  679E;  683E;  684E;  685E;  691E; 
MINT NA
HPRD 00593;  00595;  01807;  03450;  03456;  07531;  10581; 
IntAct NA
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:2068
KEGG GENES KEGG GENES(2068)
GeneCard GeneCardERCC2*GeneCards is provided free to academic non-profit institutions.
etc H-GOLDHuman-Gene diversity Of Life-style related Diseases
Related H-InvDB links G-integraG-integra PPI viewerPPI view H-DBASH-DBAS Gene familyGene family;  Similarity Search ToolSimilarity search tool TACTTACT
Gene expression information   H-ANGEL DNAProbeLocator Last modified:27-May-2015
Tissue-specific expression  H-ANGEL NA
Probe
information DNAProbeLocator
AceGene AGhsC070916; 
Affymetrix
GeneChip
HG-Focus NA
HG-U133 213468_at; 
HG-U133A 213468_at; 
HG-U133A_2 213468_at; 
HG-U133B NA
HG-U133_Plus_2 213468_at; 
HG-U95 32396_f_at;  41095_at;  992_at; 
HG-U95A 32396_f_at;  41095_at;  992_at; 
HG-U95B NA
HG-U95C NA
HG-U95D NA
HG-U95E NA
HG-U95Av2 NA
HuEx-1_0 3865303;  3865307;  3865308;  3865309;  3865311;  3865312;  3865313;  3865314;  3865317;  3865318;  3865320;  3865323;  3865326;  3865327;  3865328;  3865329;  3865330;  3865331;  3865332;  3865333;  3865334;  3865335;  3865336; 
HuGeneFL X52221_at; 
Agilent Human 1A Oligo Microarray:PGID215 A_23_P130485; 
Whole Human Genome Oligo Microarray:PGID247 A_23_P130488;  A_24_P401990; 
Related H-InvDB links H-ANGELH-ANGEL DNAProbeLocatorDNAProbeLocator

Disease/pathology information  DiseaseInfo Viewer LEGENDA Last modified:27-May-2015
Disease relation Disease name: Cerebrooculofacioskeletal syndrome 2 (610756);  Disease name: Trichothiodystrophy (601675);  Disease name: Xeroderma pigmentosum, group D (278730); 
Related information in OMIM OMIM ID:  126340;  Title: EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2
Co-localized orphan diseases NA
Disease related mutation MutationView:  126340
JRE-1.4.0 or later is required.Download JRE at Sun's web site.
Co-occurred words and phrases with this gene name in PubMed (LEGENDA) LEGENDA Gene name Entrez Gene ID:(2068); 
Disease Entrez Gene ID:(2068); 
Gene function Entrez Gene ID:(2068); 
Substance Entrez Gene ID:(2068); 
Related H-InvDB links DiseaseInfo ViewerDiseaseInfo ViewerLEGENDALEGENDA