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AFM Gene(Protein Coding)

Afamin

GCID:
GC04P073481
GIFtS:
54
Genes Participants
UDN Logo

Aliases for AFM Gene

Aliases for AFM Gene

  • Afamin 2 3 3 5
  • Alpha-Albumin 3 4
  • Alpha-Alb 3 4
  • ALB2 3 4
  • ALBA 3 4
  • ALF 3

External Ids for AFM Gene

Previous GeneCards Identifiers for AFM Gene

  • GC04P074336
  • GC04P074587
  • GC04P074748
  • GC04P074813
  • GC04P074712
  • GC04P074566
  • GC04P070158

Summaries for AFM Gene

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 Trigonitis and Squamous Papillomatosis. GO annotations related to this gene include vitamin E binding. An important paralog of this gene is AFP.

UniProtKB/Swiss-Prot for AFM Gene

  • 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.

Gene Wiki entry for AFM Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AFM Gene

Genomics for AFM Gene

Products:

  1. Regulatory Element

Regulatory Elements for AFM Gene

Enhancers for AFM Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04G073449 1.2 Ensembl ENCODE 11.8 -29.0 -29007 5.5 PKNOX1 ATF1 ZFP64 SIN3A FEZF1 GATA2 FOS ZMIZ1 PAF1 REST AFP AFM
GH04G073527 0.3 FANTOM5 6 +46.1 46138 0.0 AFM ALB LINC02499 ENSG00000249970
GH04G073189 0.7 FANTOM5 1.7 -292.3 -292277 0.0 NR4A1 ZNF398 RELA ZNF592 OSR2 TFDP1 NFIC ZNF766 ZNF589 ZBTB48 ANKRD17 ENSG00000250220 ENSG00000221639 AFM ALB GC04P073141 LOC102724832
GH04G073431 1 ENCODE 0.2 -48.8 -48777 2.7 HNRNPUL1 FOXA2 ATF1 MLX ARID4B YY1 TCF12 GATA2 PAF1 MXD4 AFP AFM
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AFM on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the AFM gene promoter:

Genomic Location for AFM Gene

Chromosome:
4
Start:
73,481,683 bp from pter
End:
73,504,001 bp from pter
Size:
22,319 bases
Orientation:
Plus strand

Genomic View for AFM Gene

Genes around AFM on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AFM Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AFM Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for AFM Gene

Proteins for AFM Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for AFM Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P43652-AFAM_HUMAN
    Recommended name:
    Afamin
    Protein Accession:
    P43652
    Secondary Accessions:
    • A8K3E1
    • Q32MR3
    • Q4W5C5

    Protein attributes for AFM Gene

    Size:
    599 amino acids
    Molecular mass:
    69069 Da
    Quaternary structure:
    No Data Available

neXtProt entry for AFM Gene

Protein Expression for AFM Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for AFM Gene

  • N-glycosylated; more than 90% of the glycans are sialylated.
  • Glycosylation at Asn33, posLast=109109, posLast=383383, posLast=402402, and Asn488
  • Modification sites at PhosphoSitePlus

Other Protein References for AFM Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for AFM

No data available for DME Specific Peptides for AFM Gene

Domains & Families for AFM Gene

Protein Domains for AFM Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for AFM Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P43652

UniProtKB/Swiss-Prot:

AFAM_HUMAN :
  • Belongs to the ALB/AFP/VDB family.
Family:
  • Belongs to the ALB/AFP/VDB family.
genes like me logo Genes that share domains with AFM: view

No data available for Gene Families for AFM Gene

Function for AFM Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for AFM Gene

GENATLAS Biochemistry:
afamin,87kDa,albumin superfamily
UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for AFM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008431 vitamin E binding IPI 12463752
genes like me logo Genes that share ontologies with AFM: view
genes like me logo Genes that share phenotypes with AFM: view

Animal Models for AFM Gene

MGI Knock Outs for AFM:
  • Afm tm1a(KOMP)Wtsi

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for AFM Gene

Localization for AFM Gene

Subcellular locations from UniProtKB/Swiss-Prot for AFM Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AFM gene
Compartment Confidence
extracellular 5
cytoskeleton 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for AFM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS 7517938
GO:0005615 extracellular space IDA 12463752
GO:0070062 extracellular exosome IDA 23376485
GO:0072562 blood microparticle IDA 22516433
genes like me logo Genes that share ontologies with AFM: view

Pathways & Interactions for AFM Gene

SuperPathways for AFM Gene

PathCards logo More details on SuperPathways for AFM
No Data Available

Interacting Proteins for AFM Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000226355%0d%0a9606.ENSP00000328287%0d%0a9606.ENSP00000265605%0d%0a
Selected Interacting proteins: P43652-AFAM_HUMAN ENSP00000226355 for AFM Gene via IID STRING

Gene Ontology (GO) - Biological Process for AFM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0051180 vitamin transport IDA 12463752
genes like me logo Genes that share ontologies with AFM: view

No data available for Pathways by source and SIGNOR curated interactions for AFM Gene

Drugs & Compounds for AFM Gene

Products:

  1. Drug

(1) Drugs for AFM Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for AFM Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with AFM: view

Transcripts for AFM Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for AFM Gene

(4) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(31) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for AFM Gene

Afamin:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for AFM Gene

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: -

Relevant External Links for AFM Gene

GeneLoc Exon Structure for
AFM
ECgene alternative splicing isoforms for
AFM

Expression for AFM Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AFM Gene

mRNA expression in normal human tissues for AFM Gene
mRNA expression by BioGPS for AFM GenemRNA expression by GTEx for AFM Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AFM Gene

This gene is overexpressed in Liver (x50.8).

Protein differential expression in normal tissues from HIPED for AFM Gene

This gene is overexpressed in Serum (21.2), Plasma (15.8), and Synovial fluid (12.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for AFM Gene



Protein tissue co-expression partners for AFM Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AFM Gene:

AFM

SOURCE GeneReport for Unigene cluster for AFM Gene:

Hs.168718

mRNA Expression by UniProt/SwissProt for AFM Gene:

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

Evidence on tissue expression from TISSUES for AFM Gene

  • Liver(4.7)
  • Nervous system(4.3)
  • Heart(4.2)
  • Bone marrow(4.1)
  • Saliva(4)
  • Kidney(2.2)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with AFM: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for AFM Gene

Orthologs for AFM Gene

This gene was present in the common ancestor of chordates.

Orthologs for AFM Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia AFM 34 35
  • 99.44 (n)
cow
(Bos Taurus)
 Mammalia AFM 34 35
  • 83.89 (n)
dog
(Canis familiaris)
 Mammalia AFM 34 35
  • 82.75 (n)
mouse
(Mus musculus)
 Mammalia Afm 34 16 35
  • 76.96 (n)
rat
(Rattus norvegicus)
 Mammalia Afm 34
  • 76.74 (n)
oppossum
(Monodelphis domestica)
 Mammalia AFM 35
  • 46 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 35
  • 40 (a)
 OneToMany
-- 35
  • 38 (a)
 OneToMany
chicken
(Gallus gallus)
 Aves -- 35
  • 34 (a)
 OneToMany
lizard
(Anolis carolinensis)
 Reptilia -- 35
  • 33 (a)
 ManyToMany
-- 35
  • 32 (a)
 ManyToMany
Species where no ortholog for AFM was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for AFM Gene

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

Paralogs for AFM Gene

Paralogs for AFM Gene

(2) SIMAP similar genes for AFM Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with AFM: view

Variants for AFM Gene

Sequence variations from dbSNP and Humsavar for AFM Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs1000247285 -- 73,500,548(+) GGAGA(A/T)TATCA intron-variant
rs1000425949 -- 73,481,731(+) GATTT(C/T)CCTCA upstream-variant-2KB
rs1000446180 -- 73,482,951(+) GAAGC(C/T)CATAC intron-variant
rs1000456895 -- 73,481,934(+) TTGTT(C/T)TCTTT intron-variant
rs1000594009 -- 73,487,175(+) TATTA(C/T)AGCAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AFM Gene

Variant ID Type Subtype PubMed ID
esv3569517 CNV loss 25503493
nsv1001725 CNV gain 25217958

Variation tolerance for AFM Gene

Residual Variation Intolerance Score: 92% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.56; 65.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AFM Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AFM

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AFM Gene

Disorders for AFM Gene

MalaCards: The human disease database

(2) MalaCards diseases for AFM Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
trigonitis
squamous papillomatosis
- elite association - COSMIC cancer census association via MalaCards
Search AFM in MalaCards View complete list of genes associated with diseases

Relevant External Links for AFM

Genetic Association Database (GAD)
AFM
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AFM
genes like me logo Genes that share disorders with AFM: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AFM Gene

Publications for AFM Gene

  1. Afamin is a new member of the albumin, alpha-fetoprotein, and vitamin D-binding protein gene family. (PMID: 7517938) Lichenstein H.S. … Zukowski M.M. (J. Biol. Chem. 1994) 2 3 4 22 64
  2. Afamin is synthesized by cerebrovascular endothelial cells and mediates alpha-tocopherol transport across an in vitro model of the blood-brain barrier. (PMID: 19046407) Kratzer I. … Sattler W. (J. Neurochem. 2009) 3 4 22 64
  3. Afamin is a novel human vitamin E-binding glycoprotein characterization and in vitro expression. (PMID: 15952736) Jerkovic L. … Dieplinger H. (J. Proteome Res. 2005) 3 4 22 64
  4. Characterization of the vitamin E-binding properties of human plasma afamin. (PMID: 12463752) Voegele A.F. … Dieplinger H. (Biochemistry 2002) 3 4 22 64
  5. Complete structure of the human alpha-albumin gene, a new member of the serum albumin multigene family. (PMID: 8755513) Nishio H. … Dugaiczyk A. (Proc. Natl. Acad. Sci. U.S.A. 1996) 3 4 22 64

Products for AFM Gene

Sources for AFM Gene

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