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MAMDC4 (MAM domain containing 4)

Identity

Alias_symbol (synonym)AEGP
DKFZp434M1411
Other alias
HGNC (Hugo) MAMDC4
LocusID (NCBI) 158056
Atlas_Id 68772
Location 9q34.3  [Link to chromosome band 9q34]
Location_base_pair Starts at 136852367 and ends at 136860799 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)MAMDC4   24083
Cards
Entrez_Gene (NCBI)MAMDC4  158056  MAM domain containing 4
AliasesAEGP
GeneCards (Weizmann)MAMDC4
Ensembl hg19 (Hinxton)ENSG00000177943 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000177943 [Gene_View]  chr9:136852367-136860799 [Contig_View]  MAMDC4 [Vega]
ICGC DataPortalENSG00000177943
TCGA cBioPortalMAMDC4
AceView (NCBI)MAMDC4
Genatlas (Paris)MAMDC4
WikiGenes158056
SOURCE (Princeton)MAMDC4
Genetics Home Reference (NIH)MAMDC4
Genomic and cartography
GoldenPath hg38 (UCSC)MAMDC4  -     chr9:136852367-136860799 +  9q34.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MAMDC4  -     9q34.3   [Description]    (hg19-Feb_2009)
EnsemblMAMDC4 - 9q34.3 [CytoView hg19]  MAMDC4 - 9q34.3 [CytoView hg38]
Mapping of homologs : NCBIMAMDC4 [Mapview hg19]  MAMDC4 [Mapview hg38]
OMIM617208   
Gene and transcription
Genbank (Entrez)AL137659 AL834531 AY358419 BC144258 BC144259
RefSeq transcript (Entrez)NM_206920
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MAMDC4
Cluster EST : UnigeneHs.376780 [ NCBI ]
CGAP (NCI)Hs.376780
Alternative Splicing GalleryENSG00000177943
Gene ExpressionMAMDC4 [ NCBI-GEO ]   MAMDC4 [ EBI - ARRAY_EXPRESS ]   MAMDC4 [ SEEK ]   MAMDC4 [ MEM ]
Gene Expression Viewer (FireBrowse)MAMDC4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)158056
GTEX Portal (Tissue expression)MAMDC4
Human Protein AtlasENSG00000177943-MAMDC4 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6UXC1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6UXC1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6UXC1
Splice isoforms : SwissVarQ6UXC1
PhosPhoSitePlusQ6UXC1
Domaine pattern : Prosite (Expaxy)LDLRA_1 (PS01209)    LDLRA_2 (PS50068)    MAM_2 (PS50060)   
Domains : Interpro (EBI)ConA-like_dom    LDLR_class-A_CS    LDrepeatLR_classA_rpt    MAM_dom   
Domain families : Pfam (Sanger)Ldl_recept_a (PF00057)    MAM (PF00629)   
Domain families : Pfam (NCBI)pfam00057    pfam00629   
Domain families : Smart (EMBL)LDLa (SM00192)  MAM (SM00137)  
Conserved Domain (NCBI)MAMDC4
DMDM Disease mutations158056
Blocks (Seattle)MAMDC4
SuperfamilyQ6UXC1
Human Protein Atlas [tissue]ENSG00000177943-MAMDC4 [tissue]
Peptide AtlasQ6UXC1
HPRD12434
IPIIPI00793509   IPI00847907   IPI00889556   IPI00847365   
Protein Interaction databases
DIP (DOE-UCLA)Q6UXC1
IntAct (EBI)Q6UXC1
FunCoupENSG00000177943
BioGRIDMAMDC4
STRING (EMBL)MAMDC4
ZODIACMAMDC4
Ontologies - Pathways
QuickGOQ6UXC1
Ontology : AmiGOprotein transport  integral component of membrane  
Ontology : EGO-EBIprotein transport  integral component of membrane  
NDEx NetworkMAMDC4
Atlas of Cancer Signalling NetworkMAMDC4
Wikipedia pathwaysMAMDC4
Orthology - Evolution
OrthoDB158056
GeneTree (enSembl)ENSG00000177943
Phylogenetic Trees/Animal Genes : TreeFamMAMDC4
HOVERGENQ6UXC1
HOGENOMQ6UXC1
Homologs : HomoloGeneMAMDC4
Homology/Alignments : Family Browser (UCSC)MAMDC4
Gene fusions - Rearrangements
Tumor Fusion PortalMAMDC4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMAMDC4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MAMDC4
dbVarMAMDC4
ClinVarMAMDC4
1000_GenomesMAMDC4 
Exome Variant ServerMAMDC4
ExAC (Exome Aggregation Consortium)ENSG00000177943
GNOMAD BrowserENSG00000177943
Genetic variants : HAPMAP158056
Genomic Variants (DGV)MAMDC4 [DGVbeta]
DECIPHERMAMDC4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMAMDC4 
Mutations
ICGC Data PortalMAMDC4 
TCGA Data PortalMAMDC4 
Broad Tumor PortalMAMDC4
OASIS PortalMAMDC4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMAMDC4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMAMDC4
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 MAMDC4
DgiDB (Drug Gene Interaction Database)MAMDC4
DoCM (Curated mutations)MAMDC4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MAMDC4 (select a term)
intoGenMAMDC4
Cancer3DMAMDC4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM617208   
Orphanet
DisGeNETMAMDC4
MedgenMAMDC4
Genetic Testing Registry MAMDC4
NextProtQ6UXC1 [Medical]
TSGene158056
GENETestsMAMDC4
Target ValidationMAMDC4
Huge Navigator MAMDC4 [HugePedia]
snp3D : Map Gene to Disease158056
BioCentury BCIQMAMDC4
ClinGenMAMDC4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD158056
Chemical/Pharm GKB GenePA142671487
Clinical trialMAMDC4
Miscellaneous
canSAR (ICR)MAMDC4 (select the gene name)
Probes
Litterature
PubMed4 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMAMDC4
EVEXMAMDC4
GoPubMedMAMDC4
iHOPMAMDC4
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 : Tue Nov 21 13:20:06 CET 2017

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