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REG4 (regenerating gene type IV)

Written2003-08Jean-Loup Huret, Sylvie Senon
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

Alias_namesregenerating islet-derived family
Alias_symbol (synonym)REG-IV
RELP
GISP
Other aliasREG-IV (regenerating gene type IV)
HGNC (Hugo) REG4
LocusID (NCBI) 83998
Atlas_Id 485
Location 1p12  [Link to chromosome band 1p12]
Location_base_pair Starts at 119794018 and ends at 119811580 bp from pter ( according to hg19-Feb_2009)  [Mapping REG4.png]
Fusion genes
(updated 2016)
BCAS3 (17q23.2) / REG4 (1p12)RPL30 (8q22.2) / REG4 (1p12)WARS2 (1p12) / REG4 (1p12)

DNA/RNA

Description the gene spans 17 kb; 1191 bp cDNA; 6 exons; ORF: 474 bp

Protein

Description 158 amino acids, 18 kDa.
Expression gastrointestinal tract: stomach, small intestine, colon, and pancreas. High expression inCrohn's disease and in ulcerative colitis.
Function supposed to be involved in cell regeneration and/ or survival
Homology with other members of the REG family, of which are PSP/REG-I alpha and PAP

Mutations

Somatic strongly expressed in colorectal tumors as compared to normal colon tissue.

Bibliography

Isolation and characterization of a cDNA encoding a novel member of the human regenerating protein family: Reg IV.
Hartupee JC, Zhang H, Bonaldo MF, Soares MB, Dieckgraefe BK
Biochimica et biophysica acta. 2001 ; 1518 (3) : 287-293.
PMID 11311942
 
Reg IV, a new member of the regenerating gene family, is overexpressed in colorectal carcinomas.
Violette S, Festor E, Pandrea-Vasile I, Mitchell V, Adida C, Dussaulx E, Lacorte JM, Chambaz J, Lacasa M, Lesuffleur T
International journal of cancer. Journal international du cancer. 2003 ; 103 (2) : 185-193.
PMID 12455032
 

Citation

This paper should be referenced as such :
Huret, JL ; Senon, S
REG-IV (regenerating gene type IV)
Atlas Genet Cytogenet Oncol Haematol. 2003;7(4):231-231.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/REGIVID485.html


External links

Nomenclature
HGNC (Hugo)REG4   22977
Cards
AtlasREGIVID485
Entrez_Gene (NCBI)REG4  83998  regenerating family member 4
AliasesGISP; REG-IV; RELP
GeneCards (Weizmann)REG4
Ensembl hg19 (Hinxton)ENSG00000134193 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000134193 [Gene_View]  chr1:119794018-119811580 [Contig_View]  REG4 [Vega]
ICGC DataPortalENSG00000134193
TCGA cBioPortalREG4
AceView (NCBI)REG4
Genatlas (Paris)REG4
WikiGenes83998
SOURCE (Princeton)REG4
Genetics Home Reference (NIH)REG4
Genomic and cartography
GoldenPath hg38 (UCSC)REG4  -     chr1:119794018-119811580 -  1p12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)REG4  -     1p12   [Description]    (hg19-Feb_2009)
EnsemblREG4 - 1p12 [CytoView hg19]  REG4 - 1p12 [CytoView hg38]
Mapping of homologs : NCBIREG4 [Mapview hg19]  REG4 [Mapview hg38]
OMIM609846   
Gene and transcription
Genbank (Entrez)AF254415 AF345934 AK057107 AY007243 AY126670
RefSeq transcript (Entrez)NM_001159352 NM_001159353 NM_032044
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)REG4
Cluster EST : UnigeneHs.660883 [ NCBI ]
CGAP (NCI)Hs.660883
Alternative Splicing GalleryENSG00000134193
Gene ExpressionREG4 [ NCBI-GEO ]   REG4 [ EBI - ARRAY_EXPRESS ]   REG4 [ SEEK ]   REG4 [ MEM ]
Gene Expression Viewer (FireBrowse)REG4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)83998
GTEX Portal (Tissue expression)REG4
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BYZ8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BYZ8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BYZ8
Splice isoforms : SwissVarQ9BYZ8
PhosPhoSitePlusQ9BYZ8
Domaine pattern : Prosite (Expaxy)C_TYPE_LECTIN_1 (PS00615)    C_TYPE_LECTIN_2 (PS50041)   
Domains : Interpro (EBI)C-type_lectin-like    C-type_lectin-like/link    C-type_lectin_CS    CTDL_fold   
Domain families : Pfam (Sanger)Lectin_C (PF00059)   
Domain families : Pfam (NCBI)pfam00059   
Domain families : Smart (EMBL)CLECT (SM00034)  
Conserved Domain (NCBI)REG4
DMDM Disease mutations83998
Blocks (Seattle)REG4
PDB (SRS)2KV3   
PDB (PDBSum)2KV3   
PDB (IMB)2KV3   
PDB (RSDB)2KV3   
Structural Biology KnowledgeBase2KV3   
SCOP (Structural Classification of Proteins)2KV3   
CATH (Classification of proteins structures)2KV3   
SuperfamilyQ9BYZ8
Human Protein AtlasENSG00000134193
Peptide AtlasQ9BYZ8
HPRD17964
IPIIPI00012501   IPI00386177   IPI00168727   
Protein Interaction databases
DIP (DOE-UCLA)Q9BYZ8
IntAct (EBI)Q9BYZ8
FunCoupENSG00000134193
BioGRIDREG4
STRING (EMBL)REG4
ZODIACREG4
Ontologies - Pathways
QuickGOQ9BYZ8
Ontology : AmiGOcalcium ion binding  extracellular region  cytoplasm  heparin binding  mannan binding  
Ontology : EGO-EBIcalcium ion binding  extracellular region  cytoplasm  heparin binding  mannan binding  
NDEx NetworkREG4
Atlas of Cancer Signalling NetworkREG4
Wikipedia pathwaysREG4
Orthology - Evolution
OrthoDB83998
GeneTree (enSembl)ENSG00000134193
Phylogenetic Trees/Animal Genes : TreeFamREG4
HOVERGENQ9BYZ8
HOGENOMQ9BYZ8
Homologs : HomoloGeneREG4
Homology/Alignments : Family Browser (UCSC)REG4
Gene fusions - Rearrangements
Fusion: TCGAWARS2 1p12 REG4 1p12 KIRC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerREG4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)REG4
dbVarREG4
ClinVarREG4
1000_GenomesREG4 
Exome Variant ServerREG4
ExAC (Exome Aggregation Consortium)REG4 (select the gene name)
Genetic variants : HAPMAP83998
Genomic Variants (DGV)REG4 [DGVbeta]
DECIPHERREG4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisREG4 
Mutations
ICGC Data PortalREG4 
TCGA Data PortalREG4 
Broad Tumor PortalREG4
OASIS PortalREG4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICREG4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDREG4
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch REG4
DgiDB (Drug Gene Interaction Database)REG4
DoCM (Curated mutations)REG4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)REG4 (select a term)
intoGenREG4
NCG5 (London)REG4
Cancer3DREG4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609846   
Orphanet
MedgenREG4
Genetic Testing Registry REG4
NextProtQ9BYZ8 [Medical]
TSGene83998
GENETestsREG4
Target ValidationREG4
Huge Navigator REG4 [HugePedia]
snp3D : Map Gene to Disease83998
BioCentury BCIQREG4
ClinGenREG4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD83998
Chemical/Pharm GKB GenePA134888932
Clinical trialREG4
Miscellaneous
canSAR (ICR)REG4 (select the gene name)
Probes
Litterature
PubMed58 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineREG4
EVEXREG4
GoPubMedREG4
iHOPREG4
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon May 22 09:21:47 CEST 2017

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