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KAZN (kazrin, periplakin interacting protein)

Identity

Alias_symbol (synonym)KIAA1026
KAZRIN
FLJ43806
Other aliasKAZ
HGNC (Hugo) KAZN
LocusID (NCBI) 23254
Atlas_Id 64747
Location 1p36.21  [Link to chromosome band 1p36]
Location_base_pair Starts at 14945919 and ends at 15068155 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
KAZN (1p36.21) / COL12A1 (6q13)KAZN (1p36.21) / GNB1 (1p36.33)KAZN (1p36.21) / LLGL2 (17q25.1)
KAZN (1p36.21) / MTOR (1p36.22)KAZN (1p36.21) / SLC4A3 (2q35)KAZN (1p36.21) / ST3GAL3 (1p34.1)
MSN (Xq12) / KAZN (1p36.21)PTBP2 (1p21.3) / KAZN (1p36.21)RPL13A (19q13.33) / KAZN (1p36.21)
TMEM51 (1p36.21) / KAZN (1p36.21)ZNF638 (2p13.2) / KAZN (1p36.21)PTBP2 KAZN
TMEM51 KAZN

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)KAZN   29173
Cards
Entrez_Gene (NCBI)KAZN  23254  kazrin, periplakin interacting protein
AliasesKAZ
GeneCards (Weizmann)KAZN
Ensembl hg19 (Hinxton)ENSG00000189337 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000189337 [Gene_View]  chr1:14945919-15068155 [Contig_View]  KAZN [Vega]
ICGC DataPortalENSG00000189337
TCGA cBioPortalKAZN
AceView (NCBI)KAZN
Genatlas (Paris)KAZN
WikiGenes23254
SOURCE (Princeton)KAZN
Genetics Home Reference (NIH)KAZN
Genomic and cartography
GoldenPath hg38 (UCSC)KAZN  -     chr1:14945919-15068155 +  1p36.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KAZN  -     1p36.21   [Description]    (hg19-Feb_2009)
EnsemblKAZN - 1p36.21 [CytoView hg19]  KAZN - 1p36.21 [CytoView hg38]
Mapping of homologs : NCBIKAZN [Mapview hg19]  KAZN [Mapview hg38]
Gene and transcription
Genbank (Entrez)AB015329 AF052120 AK057155 AK125388 AK293806
RefSeq transcript (Entrez)NM_001017999 NM_001018000 NM_001018001 NM_015209 NM_201628
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KAZN
Cluster EST : UnigeneHs.368823 [ NCBI ]
CGAP (NCI)Hs.368823
Alternative Splicing GalleryENSG00000189337
Gene ExpressionKAZN [ NCBI-GEO ]   KAZN [ EBI - ARRAY_EXPRESS ]   KAZN [ SEEK ]   KAZN [ MEM ]
Gene Expression Viewer (FireBrowse)KAZN [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23254
GTEX Portal (Tissue expression)KAZN
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ674X7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ674X7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ674X7
Splice isoforms : SwissVarQ674X7
PhosPhoSitePlusQ674X7
Domaine pattern : Prosite (Expaxy)SAM_DOMAIN (PS50105)   
Domains : Interpro (EBI)SAM    SAM/pointed   
Domain families : Pfam (Sanger)SAM_1 (PF00536)    SAM_2 (PF07647)   
Domain families : Pfam (NCBI)pfam00536    pfam07647   
Domain families : Smart (EMBL)SAM (SM00454)  
Conserved Domain (NCBI)KAZN
DMDM Disease mutations23254
Blocks (Seattle)KAZN
SuperfamilyQ674X7
Human Protein AtlasENSG00000189337
Peptide AtlasQ674X7
HPRD11122
IPIIPI00744557   IPI00745165   IPI00604481   IPI00607712   IPI00884900   IPI01010779   
Protein Interaction databases
DIP (DOE-UCLA)Q674X7
IntAct (EBI)Q674X7
FunCoupENSG00000189337
BioGRIDKAZN
STRING (EMBL)KAZN
ZODIACKAZN
Ontologies - Pathways
QuickGOQ674X7
Ontology : AmiGOcornified envelope  protein binding  nucleoplasm  cytosol  cytosol  cytoskeleton  nuclear speck  desmosome  cornification  
Ontology : EGO-EBIcornified envelope  protein binding  nucleoplasm  cytosol  cytosol  cytoskeleton  nuclear speck  desmosome  cornification  
NDEx NetworkKAZN
Atlas of Cancer Signalling NetworkKAZN
Wikipedia pathwaysKAZN
Orthology - Evolution
OrthoDB23254
GeneTree (enSembl)ENSG00000189337
Phylogenetic Trees/Animal Genes : TreeFamKAZN
HOVERGENQ674X7
HOGENOMQ674X7
Homologs : HomoloGeneKAZN
Homology/Alignments : Family Browser (UCSC)KAZN
Gene fusions - Rearrangements
Fusion: TCGAPTBP2 KAZN
Fusion: TCGATMEM51 KAZN
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKAZN [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KAZN
dbVarKAZN
ClinVarKAZN
1000_GenomesKAZN 
Exome Variant ServerKAZN
ExAC (Exome Aggregation Consortium)KAZN (select the gene name)
Genetic variants : HAPMAP23254
Genomic Variants (DGV)KAZN [DGVbeta]
DECIPHERKAZN [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKAZN 
Mutations
ICGC Data PortalKAZN 
TCGA Data PortalKAZN 
Broad Tumor PortalKAZN
OASIS PortalKAZN [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKAZN  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKAZN
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 KAZN
DgiDB (Drug Gene Interaction Database)KAZN
DoCM (Curated mutations)KAZN (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KAZN (select a term)
intoGenKAZN
Cancer3DKAZN(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenKAZN
Genetic Testing Registry KAZN
NextProtQ674X7 [Medical]
TSGene23254
GENETestsKAZN
Target ValidationKAZN
Huge Navigator KAZN [HugePedia]
snp3D : Map Gene to Disease23254
BioCentury BCIQKAZN
ClinGenKAZN
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23254
Chemical/Pharm GKB GenePA166048988
Clinical trialKAZN
Miscellaneous
canSAR (ICR)KAZN (select the gene name)
Probes
Litterature
PubMed20 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKAZN
EVEXKAZN
GoPubMedKAZN
iHOPKAZN
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 1 16:18:06 CEST 2017

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