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AFTPH (aftiphilin)

Identity

Alias (NCBI)Nbla10388
HGNC (Hugo) AFTPH
HGNC Alias symbMGC33965
FLJ20080
FLJ23793
Nbla10388
LocusID (NCBI) 54812
Atlas_Id 60184
Location 2p14  [Link to chromosome band 2p14]
Location_base_pair Starts at 64524305 and ends at 64593004 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)
AFTPH (2p14) / SOS2 (14q21.3)AFTPH (2p14) / THRB (3p24.2)AFTPH (2p14) / WDPCP (2p15)
RAP2A (13q32.1) / AFTPH (2p14)SP3 (2q31.1) / AFTPH (2p14)WDPCP (2p15) / AFTPH (2p14)

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)AFTPH   25951
Cards
Entrez_Gene (NCBI)AFTPH    aftiphilin
AliasesNbla10388
GeneCards (Weizmann)AFTPH
Ensembl hg19 (Hinxton)ENSG00000119844 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000119844 [Gene_View]  ENSG00000119844 [Sequence]  chr2:64524305-64593004 [Contig_View]  AFTPH [Vega]
ICGC DataPortalENSG00000119844
TCGA cBioPortalAFTPH
AceView (NCBI)AFTPH
Genatlas (Paris)AFTPH
SOURCE (Princeton)AFTPH
Genetics Home Reference (NIH)AFTPH
Genomic and cartography
GoldenPath hg38 (UCSC)AFTPH  -     chr2:64524305-64593004 +  2p14   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AFTPH  -     2p14   [Description]    (hg19-Feb_2009)
GoldenPathAFTPH - 2p14 [CytoView hg19]  AFTPH - 2p14 [CytoView hg38]
ImmunoBaseENSG00000119844
Genome Data Viewer NCBIAFTPH [Mapview hg19]  
Gene and transcription
Genbank (Entrez)AA583062 AB073356 AK000087 AK021899 AK024658
RefSeq transcript (Entrez)NM_001002243 NM_001375969 NM_001375970 NM_001375971 NM_001375972 NM_001375973 NM_001394995 NM_001394996 NM_017657 NM_203437
Consensus coding sequences : CCDS (NCBI)AFTPH
Gene ExpressionAFTPH [ NCBI-GEO ]   AFTPH [ EBI - ARRAY_EXPRESS ]   AFTPH [ SEEK ]   AFTPH [ MEM ]
Gene Expression Viewer (FireBrowse)AFTPH [ Firebrowse - Broad ]
GenevisibleExpression of AFTPH in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54812
GTEX Portal (Tissue expression)AFTPH
Human Protein AtlasENSG00000119844-AFTPH [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6ULP2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6ULP2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6ULP2
PhosPhoSitePlusQ6ULP2
Domains : Interpro (EBI)Clathrin-bd   
Domain families : Pfam (Sanger)Clathrin_bdg (PF15045)   
Domain families : Pfam (NCBI)pfam15045   
Conserved Domain (NCBI)AFTPH
SuperfamilyQ6ULP2
AlphaFold pdb e-kbQ6ULP2   
Human Protein Atlas [tissue]ENSG00000119844-AFTPH [tissue]
HPRD10635
Protein Interaction databases
DIP (DOE-UCLA)Q6ULP2
IntAct (EBI)Q6ULP2
BioGRIDAFTPH
STRING (EMBL)AFTPH
ZODIACAFTPH
Ontologies - Pathways
QuickGOQ6ULP2
Ontology : AmiGOnucleoplasm  Golgi apparatus  cytosol  protein transport  AP-1 adaptor complex  AP-1 adaptor complex  clathrin binding  clathrin binding  trans-Golgi network membrane  intracellular membrane-bounded organelle  intracellular transport  perinuclear region of cytoplasm  
Ontology : EGO-EBInucleoplasm  Golgi apparatus  cytosol  protein transport  AP-1 adaptor complex  AP-1 adaptor complex  clathrin binding  clathrin binding  trans-Golgi network membrane  intracellular membrane-bounded organelle  intracellular transport  perinuclear region of cytoplasm  
NDEx NetworkAFTPH
Atlas of Cancer Signalling NetworkAFTPH
Wikipedia pathwaysAFTPH
Orthology - Evolution
OrthoDB54812
GeneTree (enSembl)ENSG00000119844
Phylogenetic Trees/Animal Genes : TreeFamAFTPH
Homologs : HomoloGeneAFTPH
Homology/Alignments : Family Browser (UCSC)AFTPH
Gene fusions - Rearrangements
Fusion : QuiverAFTPH
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAFTPH [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AFTPH
dbVarAFTPH
ClinVarAFTPH
MonarchAFTPH
1000_GenomesAFTPH 
Exome Variant ServerAFTPH
GNOMAD BrowserENSG00000119844
Varsome BrowserAFTPH
ACMGAFTPH variants
VarityQ6ULP2
Genomic Variants (DGV)AFTPH [DGVbeta]
DECIPHERAFTPH [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAFTPH 
Mutations
ICGC Data PortalAFTPH 
TCGA Data PortalAFTPH 
Broad Tumor PortalAFTPH
OASIS PortalAFTPH [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAFTPH  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DAFTPH
Mutations and Diseases : HGMDAFTPH
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaAFTPH
DgiDB (Drug Gene Interaction Database)AFTPH
DoCM (Curated mutations)AFTPH
CIViC (Clinical Interpretations of Variants in Cancer)AFTPH
Cancer3DAFTPH
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETAFTPH
MedgenAFTPH
Genetic Testing Registry AFTPH
NextProtQ6ULP2 [Medical]
GENETestsAFTPH
Target ValidationAFTPH
Huge Navigator AFTPH [HugePedia]
ClinGenAFTPH
Clinical trials, drugs, therapy
MyCancerGenomeAFTPH
Protein Interactions : CTDAFTPH
Pharm GKB GenePA145149871
PharosQ6ULP2
Clinical trialAFTPH
Miscellaneous
canSAR (ICR)AFTPH
HarmonizomeAFTPH
DataMed IndexAFTPH
Probes
Litterature
PubMed26 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXAFTPH
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Oct 4 15:41:41 CEST 2021

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