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GTF2H2C (GTF2H2 family member C)

Identity

Alias (NCBI)GTF2H2C_2
HGNC (Hugo) GTF2H2C
HGNC Previous namegeneral transcription factor IIH, polypeptide 2C
LocusID (NCBI) 728340
Atlas_Id 50624
Location 5q13.2  [Link to chromosome band 5q13]
Location_base_pair Starts at 69560191 and ends at 69595214 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)GTF2H2C   31394
Cards
Entrez_Gene (NCBI)GTF2H2C    GTF2H2 family member C
AliasesGTF2H2C_2
GeneCards (Weizmann)GTF2H2C
Ensembl hg19 (Hinxton)ENSG00000183474 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000183474 [Gene_View]  ENSG00000183474 [Sequence]  chr5:69560191-69595214 [Contig_View]  GTF2H2C [Vega]
ICGC DataPortalENSG00000183474
TCGA cBioPortalGTF2H2C
AceView (NCBI)GTF2H2C
Genatlas (Paris)GTF2H2C
SOURCE (Princeton)GTF2H2C
Genetics Home Reference (NIH)GTF2H2C
Genomic and cartography
GoldenPath hg38 (UCSC)GTF2H2C  -     chr5:69560191-69595214 +  5q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GTF2H2C  -     5q13.2   [Description]    (hg19-Feb_2009)
GoldenPathGTF2H2C - 5q13.2 [CytoView hg19]  GTF2H2C - 5q13.2 [CytoView hg38]
ImmunoBaseENSG00000183474
Genome Data Viewer NCBIGTF2H2C [Mapview hg19]  
Gene and transcription
Genbank (Entrez)AK292361 DQ786295
RefSeq transcript (Entrez)NM_001098728 NM_001375998 NM_001375999 NM_001376000 NM_001376001 NM_001376002 NM_001376003 NM_001376005 NM_001376006
Consensus coding sequences : CCDS (NCBI)GTF2H2C
Gene ExpressionGTF2H2C [ NCBI-GEO ]   GTF2H2C [ EBI - ARRAY_EXPRESS ]   GTF2H2C [ SEEK ]   GTF2H2C [ MEM ]
Gene Expression Viewer (FireBrowse)GTF2H2C [ Firebrowse - Broad ]
GenevisibleExpression of GTF2H2C in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)728340
GTEX Portal (Tissue expression)GTF2H2C
Human Protein AtlasENSG00000183474-GTF2H2C [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6P1K8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6P1K8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6P1K8
PhosPhoSitePlusQ6P1K8
Domaine pattern : Prosite (Expaxy)VWFA (PS50234)   
Domains : Interpro (EBI)Ssl1-like    TFIIH_C1-like_dom    TFIIH_SSL1/p44    VWF_A    vWFA_dom_sf    Znf_C2H2_type    Znf_RING/FYVE/PHD   
Domain families : Pfam (Sanger)C1_4 (PF07975)    Ssl1 (PF04056)   
Domain families : Pfam (NCBI)pfam07975    pfam04056   
Domain families : Smart (EMBL)C1_4 (SM01047)  VWA (SM00327)  
Conserved Domain (NCBI)GTF2H2C
SuperfamilyQ6P1K8
AlphaFold pdb e-kbQ6P1K8   
Human Protein Atlas [tissue]ENSG00000183474-GTF2H2C [tissue]
Protein Interaction databases
DIP (DOE-UCLA)Q6P1K8
IntAct (EBI)Q6P1K8
BioGRIDGTF2H2C
STRING (EMBL)GTF2H2C
ZODIACGTF2H2C
Ontologies - Pathways
QuickGOQ6P1K8
Ontology : AmiGOtranscription factor TFIIH core complex  protein binding  transcription factor TFIIH holo complex  nucleotide-excision repair  transcription, DNA-templated  regulation of transcription by RNA polymerase II  zinc ion binding  nuclear speck  
Ontology : EGO-EBItranscription factor TFIIH core complex  protein binding  transcription factor TFIIH holo complex  nucleotide-excision repair  transcription, DNA-templated  regulation of transcription by RNA polymerase II  zinc ion binding  nuclear speck  
Pathways : KEGGBasal transcription factors    Nucleotide excision repair    Viral carcinogenesis   
NDEx NetworkGTF2H2C
Atlas of Cancer Signalling NetworkGTF2H2C
Wikipedia pathwaysGTF2H2C
Orthology - Evolution
OrthoDB728340
GeneTree (enSembl)ENSG00000183474
Phylogenetic Trees/Animal Genes : TreeFamGTF2H2C
Homologs : HomoloGeneGTF2H2C
Homology/Alignments : Family Browser (UCSC)GTF2H2C
Gene fusions - Rearrangements
Fusion : QuiverGTF2H2C
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGTF2H2C [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GTF2H2C
dbVarGTF2H2C
ClinVarGTF2H2C
MonarchGTF2H2C
1000_GenomesGTF2H2C 
Exome Variant ServerGTF2H2C
GNOMAD BrowserENSG00000183474
Varsome BrowserGTF2H2C
ACMGGTF2H2C variants
VarityQ6P1K8
Genomic Variants (DGV)GTF2H2C [DGVbeta]
DECIPHERGTF2H2C [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGTF2H2C 
Mutations
ICGC Data PortalGTF2H2C 
TCGA Data PortalGTF2H2C 
Broad Tumor PortalGTF2H2C
OASIS PortalGTF2H2C [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGTF2H2C  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DGTF2H2C
Mutations and Diseases : HGMDGTF2H2C
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaGTF2H2C
DgiDB (Drug Gene Interaction Database)GTF2H2C
DoCM (Curated mutations)GTF2H2C
CIViC (Clinical Interpretations of Variants in Cancer)GTF2H2C
Cancer3DGTF2H2C
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETGTF2H2C
MedgenGTF2H2C
Genetic Testing Registry GTF2H2C
NextProtQ6P1K8 [Medical]
GENETestsGTF2H2C
Target ValidationGTF2H2C
Huge Navigator GTF2H2C [HugePedia]
ClinGenGTF2H2C
Clinical trials, drugs, therapy
MyCancerGenomeGTF2H2C
Protein Interactions : CTDGTF2H2C
Pharm GKB GenePA164720312
PharosQ6P1K8
Clinical trialGTF2H2C
Miscellaneous
canSAR (ICR)GTF2H2C
HarmonizomeGTF2H2C
ARCHS4GTF2H2C
DataMed IndexGTF2H2C
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXGTF2H2C
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sun Jan 16 18:13:22 CET 2022

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