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MFAP4 (microfibrillar associated protein 4)

Identity

Other alias-
HGNC (Hugo) MFAP4
LocusID (NCBI) 4239
Atlas_Id 56560
Location 17p11.2  [Link to chromosome band 17p11]
Location_base_pair Starts at 19383442 and ends at 19387219 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ANKS1A (6p21.31) / MFAP4 (17p11.2)ASTN2 (9q33.1) / MFAP4 (17p11.2)

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)MFAP4   7035
Cards
Entrez_Gene (NCBI)MFAP4  4239  microfibrillar associated protein 4
Aliases
GeneCards (Weizmann)MFAP4
Ensembl hg19 (Hinxton)ENSG00000166482 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000166482 [Gene_View]  chr17:19383442-19387219 [Contig_View]  MFAP4 [Vega]
ICGC DataPortalENSG00000166482
TCGA cBioPortalMFAP4
AceView (NCBI)MFAP4
Genatlas (Paris)MFAP4
WikiGenes4239
SOURCE (Princeton)MFAP4
Genetics Home Reference (NIH)MFAP4
Genomic and cartography
GoldenPath hg38 (UCSC)MFAP4  -     chr17:19383442-19387219 -  17p11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MFAP4  -     17p11.2   [Description]    (hg19-Feb_2009)
EnsemblMFAP4 - 17p11.2 [CytoView hg19]  MFAP4 - 17p11.2 [CytoView hg38]
Mapping of homologs : NCBIMFAP4 [Mapview hg19]  MFAP4 [Mapview hg38]
OMIM600596   
Gene and transcription
Genbank (Entrez)AK293056 AK304528 BC035560 BC047725 BC062415
RefSeq transcript (Entrez)NM_001198695 NM_002404
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MFAP4
Cluster EST : UnigeneHs.296049 [ NCBI ]
CGAP (NCI)Hs.296049
Alternative Splicing GalleryENSG00000166482
Gene ExpressionMFAP4 [ NCBI-GEO ]   MFAP4 [ EBI - ARRAY_EXPRESS ]   MFAP4 [ SEEK ]   MFAP4 [ MEM ]
Gene Expression Viewer (FireBrowse)MFAP4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4239
GTEX Portal (Tissue expression)MFAP4
Protein : pattern, domain, 3D structure
UniProt/SwissProtP55083   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP55083  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP55083
Splice isoforms : SwissVarP55083
PhosPhoSitePlusP55083
Domaine pattern : Prosite (Expaxy)FIBRINOGEN_C_2 (PS51406)   
Domains : Interpro (EBI)Fibrinogen_a/b/g_C_1    Fibrinogen_a/b/g_C_2    Fibrinogen_a/b/g_C_dom   
Domain families : Pfam (Sanger)Fibrinogen_C (PF00147)   
Domain families : Pfam (NCBI)pfam00147   
Domain families : Smart (EMBL)FBG (SM00186)  
Conserved Domain (NCBI)MFAP4
DMDM Disease mutations4239
Blocks (Seattle)MFAP4
SuperfamilyP55083
Human Protein AtlasENSG00000166482
Peptide AtlasP55083
HPRD02789
IPIIPI00022792   IPI00793751   
Protein Interaction databases
DIP (DOE-UCLA)P55083
IntAct (EBI)P55083
FunCoupENSG00000166482
BioGRIDMFAP4
STRING (EMBL)MFAP4
ZODIACMFAP4
Ontologies - Pathways
QuickGOP55083
Ontology : AmiGOmicrofibril  microfibril  molecular_function  protein binding  extracellular region  extracellular region  proteinaceous extracellular matrix  extracellular space  cell adhesion  UV protection  regulation of collagen metabolic process  extracellular matrix  extracellular matrix  elastic fiber assembly  extracellular exosome  cellular response to UV-B  elastic fiber  supramolecular fiber organization  
Ontology : EGO-EBImicrofibril  microfibril  molecular_function  protein binding  extracellular region  extracellular region  proteinaceous extracellular matrix  extracellular space  cell adhesion  UV protection  regulation of collagen metabolic process  extracellular matrix  extracellular matrix  elastic fiber assembly  extracellular exosome  cellular response to UV-B  elastic fiber  supramolecular fiber organization  
NDEx NetworkMFAP4
Atlas of Cancer Signalling NetworkMFAP4
Wikipedia pathwaysMFAP4
Orthology - Evolution
OrthoDB4239
GeneTree (enSembl)ENSG00000166482
Phylogenetic Trees/Animal Genes : TreeFamMFAP4
HOVERGENP55083
HOGENOMP55083
Homologs : HomoloGeneMFAP4
Homology/Alignments : Family Browser (UCSC)MFAP4
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMFAP4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MFAP4
dbVarMFAP4
ClinVarMFAP4
1000_GenomesMFAP4 
Exome Variant ServerMFAP4
ExAC (Exome Aggregation Consortium)MFAP4 (select the gene name)
Genetic variants : HAPMAP4239
Genomic Variants (DGV)MFAP4 [DGVbeta]
DECIPHERMFAP4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMFAP4 
Mutations
ICGC Data PortalMFAP4 
TCGA Data PortalMFAP4 
Broad Tumor PortalMFAP4
OASIS PortalMFAP4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMFAP4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMFAP4
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 MFAP4
DgiDB (Drug Gene Interaction Database)MFAP4
DoCM (Curated mutations)MFAP4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MFAP4 (select a term)
intoGenMFAP4
Cancer3DMFAP4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600596   
Orphanet
MedgenMFAP4
Genetic Testing Registry MFAP4
NextProtP55083 [Medical]
TSGene4239
GENETestsMFAP4
Target ValidationMFAP4
Huge Navigator MFAP4 [HugePedia]
snp3D : Map Gene to Disease4239
BioCentury BCIQMFAP4
ClinGenMFAP4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4239
Chemical/Pharm GKB GenePA30771
Clinical trialMFAP4
Miscellaneous
canSAR (ICR)MFAP4 (select the gene name)
Probes
Litterature
PubMed24 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMFAP4
EVEXMFAP4
GoPubMedMFAP4
iHOPMFAP4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:42:52 CEST 2017

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