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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

AFM Gene

protein-coding   GIFtS: 54
GCID: GC04P074336

Afamin

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
afamin1 2     alpha-Alb2
ALB22 3 5     alpha-albumin2
ALBA2 3 5     Alpha-Alb3
ALF2     Alpha-albumin3

External Ids:    HGNC: 3161   Entrez Gene: 1732   Ensembl: ENSG000000795577   OMIM: 1041455   UniProtKB: P436523   

Export aliases for AFM gene to outside databases

Previous GC identifers: GC04P074587 GC04P074748 GC04P074813 GC04P074712 GC04P074566 GC04P070158


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for AFM Gene:
This gene is a member of the albumin gene family, which is comprised of four genes that localize to chromosome 4
in a tandem arrangement. These four genes encode structurally-related serum transport proteins that are known to
be evolutionarily related. The protein encoded by this gene is regulated developmentally, expressed in the liver
and secreted into the bloodstream. (provided by RefSeq, Jul 2008)

GeneCards Summary for AFM Gene: 
AFM (afamin) is a protein-coding gene. Diseases associated with AFM include squamous papillomatosis, and trigonitis. GO annotations related to this gene include vitamin E binding. An important paralog of this gene is ALB.

UniProtKB/Swiss-Prot: AFAM_HUMAN, P43652
Function: Vitamin E binding protein. May transport vitamin E in body fluids under conditions where the lipoprotein
system is not sufficient. May be involved in the regulation and transport of vitamin E at the blood-brain barrier
(By similarity)

Gene Wiki entry for AFM (Afamin) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.2  NT_022778.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AFM gene promoter:
         C/EBPbeta   FOXO3   CUTL1   FOXO3b   Evi-1   Nkx6-1   FOXO3a   MRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAFM promoter sequence
   Search SABiosciences Chromatin IP Primers for AFM

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AFM


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q13.3   Ensembl cytogenetic band:  4q13.3   HGNC cytogenetic band: 4q13.3

AFM Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AFM gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P074336:  view genomic region     (about GC identifiers)

Start:
74,347,400 bp from pter      End:
74,369,718 bp from pter
Size:
22,319 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: AFAM_HUMAN, P43652 (See protein sequence)
Recommended Name: Afamin precursor  
Size: 599 amino acids; 69069 Da
Subcellular location: Secreted
Secondary accessions: A8K3E1 Q32MR3 Q4W5C5

Explore the universe of human proteins at neXtProt for AFM: NX_P43652

Explore proteomics data for AFM at MOPED 

Post-translational modifications:

  • UniProtKB: N-glycosylated; more than 90% of the glycans are sialylated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P43652

  • AFM Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    AFM Protein Expression
    REFSEQ proteins: NP_001124.1  
    ENSEMBL proteins: 
     ENSP00000226355  

    Human Recombinant Protein Products for AFM: 
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    Novus Biologicals AFM Protein
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    Sino Biological Recombinant Protein for AFM
    Sino Biological Cell Lysate for AFM 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for AFM 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS7517938
    GO:0005615extracellular space IDA15952736

    AFM for ontologies           About GeneDecksing



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    Cloud-Clone Corp. ELISAs for AFM 
    Cloud-Clone Corp. CLIAs for AFM


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/6 InterPro protein domains (see all 6):
     IPR020858 Serum_albumin-like
     IPR000264 ALB/AFP/VDB
     IPR001703 Alpha-fetoprotein
     IPR014760 Serum_albumin_N
     IPR020857 Serum_albumin_CS

    Graphical View of Domain Structure for InterPro Entry P43652

    ProtoNet protein and cluster: P43652

    1 Blocks protein domain: IPB000264 Serum albumin family

    UniProtKB/Swiss-Prot: AFAM_HUMAN, P43652
    Similarity: Belongs to the ALB/AFP/VDB family
    Similarity: Contains 3 albumin domains


    AFM for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AFAM_HUMAN, P43652
    Function: Vitamin E binding protein. May transport vitamin E in body fluids under conditions where the lipoprotein
    system is not sufficient. May be involved in the regulation and transport of vitamin E at the blood-brain barrier
    (By similarity)

         Genatlas biochemistry entry for AFM:
    afamin,87kDa,albumin superfamily

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008431vitamin E binding IDA15952736
         
    AFM for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for AFM:
     Cell cycle / mitosis defect 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Afm):
     behavior/neurological  growth/size  nervous system  other 

    AFM for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for AFM 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for AFM

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AFM 
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    Inhib. RNA
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    Gene Editing
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    Clone
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    OriGene clones in human, mouse for AFM (see all 7)
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    GenScript: all cDNA clones in your preferred vector: AFM (NM_001133)
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AFM


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section




    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AFM

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0051180vitamin transport IDA19046407

    AFM for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    AFM for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for AFM (AFAM)

    3 Novoseek inferred chemical compound relationships for AFM gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    vitamin-e 61.8 16 12463752 (3), 12456077 (3), 15952736 (2), 18094419 (1)
    vitamin d 52.1 9 10400926 (1), 16489915 (1), 19733224 (1), 17654119 (1) (see all 5)
    alpha tocopherol 50.4 18 19046407 (4), 12463752 (1), 12456077 (1)

    Search CenterWatch for drugs/clinical trials and news about AFM / AFAM

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for AFM gene: 
    NM_001133.2  

    Unigene Cluster for AFM:

    Afamin
    Hs.168718  [show with all ESTs]
    Unigene Representative Sequence: NM_001133
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000226355(uc003hhb.3) ENST00000505794
    miRNA
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    Inhib. RNA
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    Clone
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    Primer
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    Additional mRNA sequence: 

    AK290556.1 BC109020.1 BC109021.1 L35498.1 

    6 DOTS entries:

    DT.208928  DT.202804  DT.75100220  DT.91948823  DT.92422309  DT.92422310 

    24/31 AceView cDNA sequences (see all 31):

    AW235536 AI247575 BF197337 CB157386 BX103962 BX110719 L35486 L35497 
    NM_001133 AH003117 L35498 AW051948 AA878846 T67570 CB162042 AI492289 
    AA706914 AI671722 BF434245 T67409 AI670879 L32140 AA501625 BF511963 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for AFM    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15 ^ 16
    SP1:                    -                                   -                                                               
    SP2:                                                                                                                        
    SP3:                                                                                                                        
    SP4:                                                                          -                                             


    ECgene alternative splicing isoforms for AFM

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    AFM expression in normal human tissues (normalized intensities)      AFM embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AACTCACAGA
    AFM Expression
    About this image


    AFM expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 2 entries
             Midgut
     
     Liver (Hepatobiliary System)
             Liver Lobule
     
     Kidney (Urinary System)
             visceral organ/metanephros/calyx   
     
     Pancreas (Endocrine System)
             visceral organ/gut/foregut-midgut junction   
     
     Lower Urinary Tract (Urinary System)
             visceral organ/metanephros/calyx   

    See AFM Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AFM

    SOURCE GeneReport for Unigene cluster: Hs.168718

    UniProtKB/Swiss-Prot: AFAM_HUMAN, P43652
    Tissue specificity: High level detected in plasma but also in extravascular fluids such as follicular and
    cerebrospinal fluids (at protein level)

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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for AFM gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Afm1 , 5 afamin1, 5 76.96(n)1
    67.78(a)1
      5 (44.78 cM)5
    2806621  NM_145146.21  NP_660128.21 
     905189325 
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    34(a)
    1 → many
    4(50277990-50289526)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    33(a)
    32(a)
    many ↔ many
    many ↔ many
    GL343253.1(493847-512660)
    GL343253.1(478702-490825)
    zebrafish
    (Danio rerio)
    Actinopterygii gc6
    group-specific component (vitamin D binding protei...
    19(a)
    1 → many
    5(47282879-47303096)


    ENSEMBL Gene Tree for AFM (if available)
    TreeFam Gene Tree for AFM (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for AFM gene
    ALB2  GC2  AFP2  
    2 SIMAP similar genes for AFM using alignment to 1 protein entry:     AFAM_HUMAN:
    AFP    ALB

    AFM for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/585 SNPs in AFM are shown (see all 585)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs46946191,2
    C,F,A,H--74345497(+) GATGTC/GTTTTG 1 -- us2k114Minor allele frequency- G:0.17NS EA NA WA CSA 556
    rs1466836501,2
    --74345538(+) TGATAA/TTTTGA 1 -- us2k10--------
    rs1406670831,2
    C--74345736(+) TATAGA/GTTCAT 1 -- us2k10--------
    rs46946201,2
    C,F,H--74345757(+) AAATTA/CCTGTG 1 -- us2k110Minor allele frequency- C:0.12NS EA WA NA 780
    rs728566141,2
    C,F--74345772(+) AATATA/GTTCCA 1 -- us2k14Minor allele frequency- G:0.03WA CSA NA 242
    rs1807200591,2
    C--74345811(+) TCATCA/GGCTTC 1 -- us2k10--------
    rs1458465541,2
    --74345854(+) GGCCTA/GGTGTG 1 -- us2k10--------
    rs131327121,2
    C,F--74345896(+) gaggcC/Tgaggt 1 -- us2k14Minor allele frequency- T:0.25WA NA CSA 8
    rs131504051,2
    C,F,A--74345939(+) tcctgG/Actaac 1 -- us2k14Minor allele frequency- A:0.27NA CSA EA 244
    rs1492277821,2
    --74345943(+) GGCTAA/GCACAG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for AFM (74347400 - 74369718 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for AFM: --
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing AFM
    DNA2.0 Custom Variant and Variant Library Synthesis for AFM

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 104145    OMIM disorders: --

    10 diseases for AFM:    About MalaCards
    squamous papillomatosis    trigonitis    congenital disorder of glycosylation    peritonitis
    endometriosis    down syndrome    ovarian cancer    squamous cell carcinoma
    endotheliitis    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for AFM:
    Trigonitis     Squamous papillomatosis

    AFM for disorders           About GeneDecksing

    Genetic Association Database (GAD): AFM

    Export disorders for AFM gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for AFM gene, integrated from 9 sources (see all 42):
    (articles sorted by number of sources associating them with AFM)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Afamin is a new member of the albumin, alpha-fetoprotein, and vitamin D-binding protein gene family. (PubMed id 7517938)1, 2, 3, 9 Lichenstein H.S....Zukowski M.M. (1994)
    2. Afamin is a novel human vitamin E-binding glycoprotein characterization and in vitro expression. (PubMed id 15952736)1, 2, 9 Jerkovic L....Dieplinger H. (2005)
    3. Afamin is synthesized by cerebrovascular endothelial cells and mediates alpha-tocopherol transport across an in vitro model of the blood-brain barrier. (PubMed id 19046407)1, 2, 9 Kratzer I....Sattler W. (2009)
    4. Characterization of the vitamin E-binding properties of human plasma afamin. (PubMed id 12463752)1, 2, 9 Voegele A.F....Dieplinger H. (2002)
    5. Complete structure of the human alpha-albumin gene, a new member of the serum albumin multigene family. (PubMed id 8755513)1, 2, 9 Nishio H. and Dugaiczyk A. (1996)
    6. Identification of rat alpha-albumin and cDNA cloning of its human ortholog. (PubMed id 7875606)1, 2, 9 Allard D.... Belanger L. (1995)
    7. Identification of N-linked glycoproteins in human saliva by glycoprotein capture and mass spectrometry. (PubMed id 16740002)1, 2 Ramachandran P....Loo J.A. (2006)
    8. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)1, 2 Liu T.... Smith R.D. (2005)
    9. Screening for N-glycosylated proteins by liquid chromatography mass spectrometry. (PubMed id 14760718)1, 2 Bunkenborg J.... Wisniewski J.R. (2004)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 173 HGNC: 316 AceView: AFM Ensembl:ENSG00000079557 euGenes: HUgn173
    ECgene: AFM H-InvDB: AFM

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    About This Section
    NameDescription
    PharmGKB entry for AFM Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for AFM gene:
    Search GeneIP for patents involving AFM

    GeneCards and IP:
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