ALB Gene (Protein Coding)

Albumin

GC04P073397
GIFtS:
50
This gene encodes the most abundant protein in human blood. This protein functions in the regulation of blood plasma colloid osmotic pressure and acts as a carrier protein for a wide range of endogenous molecules including hormones, fatty acids, and metabolites, as well as exogenous drugs. Additionally, this protein exhibits an esterase-like activity with broad substrate specif... See more...

Aliases for ALB Gene

Aliases for ALB Gene

  • Albumin 2 3 4 5
  • Serum Albumin 3
  • PRO0883 3
  • PRO0903 3
  • PRO1341 3
  • HSA 3
  • ALB 5

External Ids for ALB Gene

Previous GeneCards Identifiers for ALB Gene

  • GC04P074259
  • GC04P074509
  • GC04P074670
  • GC04P074736
  • GC04P074635
  • GC04P070083

Summaries for ALB Gene

Entrez Gene Summary for ALB Gene

  • This gene encodes the most abundant protein in human blood. This protein functions in the regulation of blood plasma colloid osmotic pressure and acts as a carrier protein for a wide range of endogenous molecules including hormones, fatty acids, and metabolites, as well as exogenous drugs. Additionally, this protein exhibits an esterase-like activity with broad substrate specificity. The encoded preproprotein is proteolytically processed to generate the mature protein. A peptide derived from this protein, EPI-X4, is an endogenous inhibitor of the CXCR4 chemokine receptor. [provided by RefSeq, Jul 2016]

GeneCards Summary for ALB Gene

ALB (Albumin) is a Protein Coding gene. Diseases associated with ALB include Analbuminemia and Hyperthyroxinemia, Familial Dysalbuminemic. Among its related pathways are Lipoprotein metabolism and Folate Metabolism. Gene Ontology (GO) annotations related to this gene include enzyme binding and chaperone binding. An important paralog of this gene is AFP.

UniProtKB/Swiss-Prot Summary for ALB Gene

  • Binds water, Ca(2+), Na(+), K(+), fatty acids, hormones, bilirubin and drugs (Probable). Its main function is the regulation of the colloidal osmotic pressure of blood (Probable). Major zinc transporter in plasma, typically binds about 80% of all plasma zinc (PubMed:19021548). Major calcium and magnesium transporter in plasma, binds approximately 45% of circulating calcium and magnesium in plasma (By similarity). Potentially has more than two calcium-binding sites and might additionally bind calcium in a non-specific manner (By similarity). The shared binding site between zinc and calcium at residue Asp-273 suggests a crosstalk between zinc and calcium transport in the blood (By similarity). The rank order of affinity is zinc > calcium > magnesium (By similarity). Binds to the bacterial siderophore enterobactin and inhibits enterobactin-mediated iron uptake of E.coli from ferric transferrin, and may thereby limit the utilization of iron and growth of enteric bacteria such as E.coli (PubMed:6234017). Does not prevent iron uptake by the bacterial siderophore aerobactin (PubMed:6234017).

Gene Wiki entry for ALB Gene

Additional gene information for ALB Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ALB Gene

Genomics for ALB Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for ALB Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH04J073404 Promoter 1 EPDnew 600.4 +7.2 7154 0.1 REST TFE3 RBFOX2 RXRB IRF2 SP1 GABPA CEBPA KMT2B SOX13 ALB AFP HSALNG0035140 HSALNG0035145
GH04J074202 Enhancer 1.1 Ensembl ENCODE 4.6 +805.3 805332 1.5 GATAD2A PRDM10 ZNF629 TFE3 SOX13 NFKBIZ RCOR2 ZNF7 ZIC2 RXRB EPGN ALB MN298116 MTHFD2L
GH04J073344 Enhancer 0.9 ENCODE 4.6 -51.5 -51514 2 GATAD2A ATF7 REST NFKBIZ RCOR2 RBFOX2 RXRB IRF2 BRD4 SP1 AFP ENSG00000221639 ALB ENSG00000249976 NONHSAG038169.2 lnc-ANKRD17-1 ANKRD17 ENSG00000250220 LOC102724832
GH04J073376 Enhancer 0.4 Ensembl 4.3 -20.6 -20613 1 RBFOX2 SP1 HNF4A ALB lnc-ALB-3 HSALNG0035140 ANKRD17
GH04J073189 Enhancer 0.8 FANTOM5 Ensembl 1.5 -204.8 -204813 7 IKZF1 CEBPA CEBPB ZNF184 ASH2L RBM22 EHMT2 ZNF282 JUNB ZBTB33 HMGA1P2 ANKRD17 ENSG00000250220 ENSG00000221639 AFM ALB piR-57460-526 L13713-166 COX18
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ALB on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ALB

Top Transcription factor binding sites by QIAGEN in the ALB gene promoter:
  • C/EBPalpha
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT2
  • STAT3
  • STAT4
  • STAT5A
  • STAT5B
  • TBP

Genomic Locations for ALB Gene

Genomic Locations for ALB Gene
chr4:73,397,114-73,421,482
(GRCh38/hg38)
Size:
24,369 bases
Orientation:
Plus strand
chr4:74,262,831-74,287,129
(GRCh37/hg19)
Size:
24,299 bases
Orientation:
Plus strand

Genomic View for ALB Gene

Genes around ALB on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ALB Gene

Proteins for ALB Gene

Products:

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  3. Assay

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

    Protein Symbol:
    P02768-ALBU_HUMAN
    Recommended name:
    Albumin
    Protein Accession:
    P02768
    Secondary Accessions:
    • E7ESS9
    • O95574
    • P04277
    • Q13140
    • Q645G4
    • Q68DN5
    • Q6UXK4
    • Q86YG0
    • Q8IUK7
    • Q9P157
    • Q9P1I7
    • Q9UHS3
    • Q9UJZ0

    Protein attributes for ALB Gene

    Size:
    609 amino acids
    Molecular mass:
    69367 Da
    Quaternary structure:
    • Interacts with FCGRT; this interaction regulates ALB homeostasis.
    SequenceCaution:
    • Sequence=AAF22034.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAF69644.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAG35503.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ALB Gene

    Alternative splice isoforms for ALB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ALB Gene

Protein Expression for ALB Gene

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

Post-translational modifications for ALB Gene

  • Kenitra variant is partially O-glycosylated at Thr-620. It has two new disulfide bonds Cys-600 to Cys-602 and Cys-601 to Cys-606.
  • Glycated in diabetic patients.
  • Phosphorylated by FAM20C in the extracellular medium.
  • Acetylated on Lys-223 by acetylsalicylic acid.
  • Glycosylation at Lys36, Lys249, Lys257, Lys75, Lys300, Lys305, Lys337, Lys341, Asn342, Lys347, Lys161, Lys375, Lys186, Lys402, Lys223, Lys437, Thr444, Lys463, Lys468, Asp518, Lys549, Lys558, Lys560, Lys569, and Lys597
  • Ubiquitination at Lys229
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • ALBU_HUMAN (559)

Other Protein References for ALB Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for ALB Gene

Domains & Families for ALB Gene

Gene Families for ALB Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Candidate cardiovascular disease genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for ALB Gene

InterPro:
Blocks:
  • Serum albumin family
ProtoNet:

Suggested Antigen Peptide Sequences for ALB Gene

GenScript: Design optimal peptide antigens:
  • Serum albumin (ALBU_HUMAN)
  • Serum albumin (Q6LEH2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P02768

UniProtKB/Swiss-Prot:

ALBU_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 ALB: view

Function for ALB Gene

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  2. CRISPR
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Molecular function for ALB Gene

UniProtKB/Swiss-Prot Function:
Binds water, Ca(2+), Na(+), K(+), fatty acids, hormones, bilirubin and drugs (Probable). Its main function is the regulation of the colloidal osmotic pressure of blood (Probable). Major zinc transporter in plasma, typically binds about 80% of all plasma zinc (PubMed:19021548). Major calcium and magnesium transporter in plasma, binds approximately 45% of circulating calcium and magnesium in plasma (By similarity). Potentially has more than two calcium-binding sites and might additionally bind calcium in a non-specific manner (By similarity). The shared binding site between zinc and calcium at residue Asp-273 suggests a crosstalk between zinc and calcium transport in the blood (By similarity). The rank order of affinity is zinc > calcium > magnesium (By similarity). Binds to the bacterial siderophore enterobactin and inhibits enterobactin-mediated iron uptake of E.coli from ferric transferrin, and may thereby limit the utilization of iron and growth of enteric bacteria such as E.coli (PubMed:6234017). Does not prevent iron uptake by the bacterial siderophore aerobactin (PubMed:6234017).
GENATLAS Biochemistry:
albumin,putative down-regulated c-Myc target gene,

Phenotypes From GWAS Catalog for ALB Gene

Gene Ontology (GO) - Molecular Function for ALB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IDA 16405401
GO:0005504 fatty acid binding IBA,NAS 9731778
GO:0005507 copper ion binding NAS 14726550
GO:0005515 protein binding IPI 16099937
GO:0008144 drug binding NAS 10940303
genes like me logo Genes that share ontologies with ALB: view
genes like me logo Genes that share phenotypes with ALB: view

Human Phenotype Ontology for ALB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ALB Gene

MGI Knock Outs for ALB:

Animal Model Products

  • Taconic Biosciences Mouse Models for ALB

CRISPR Products

miRNA for ALB Gene

miRTarBase miRNAs that target ALB

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALB

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ALB Gene

Localization for ALB Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALB 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 ALB gene
Compartment Confidence
extracellular 5
nucleus 5
endoplasmic reticulum 5
golgi apparatus 5
plasma membrane 4
cytoskeleton 4
mitochondrion 4
cytosol 4
peroxisome 3
endosome 3
lysosome 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (4)
  • Golgi apparatus (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ALB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IEA,IDA 19996109
GO:0005634 nucleus HDA 21630459
GO:0005737 cytoplasm IBA 21873635
GO:0005783 endoplasmic reticulum IDA --
genes like me logo Genes that share ontologies with ALB: view

Pathways & Interactions for ALB Gene

genes like me logo Genes that share pathways with ALB: view

SIGNOR curated interactions for ALB Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ALB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001895 retina homeostasis HEP 23580065
GO:0002576 platelet degranulation TAS --
GO:0006810 transport IBA 21873635
GO:0006898 receptor-mediated endocytosis TAS --
GO:0009267 cellular response to starvation IDA 16245148
genes like me logo Genes that share ontologies with ALB: view

Drugs & Compounds for ALB Gene

Products:

  1. Drug

(453) Drugs for ALB Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ibuprofen Approved Pharma Channel blocker, Inhibitor, Inhibition, Carrier, binder 716
Pyridoxine Approved, Investigational, Vet_approved Nutra Carrier, binder 229,229
Estrone Approved Pharma Agonist, Carrier Estrogenic hormone 22
Estrone sulfate Approved Pharma Carrier 0
Liothyronine Approved, Vet_approved Pharma Carrier 0

(61) Additional Compounds for ALB Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for ALB Gene

Compound Action Cas Number
p-Cresyl sulfate Protein-bound uremic retention solute 3233-58-7
genes like me logo Genes that share compounds with ALB: view

Drug Products

Transcripts for ALB Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for ALB Gene

1 REFSEQ mRNAs :
33 NCBI additional mRNA sequence :
20 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALB

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

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b · 11c ^ 12a · 12b ^ 13 ^ 14a ·
SP1: - - -
SP2: - - - - - - - - - - -
SP3: - - - - - - - - - - - -
SP4: - - - - - - - - - - - -
SP5: - - - - - - -
SP6: -
SP7: - - -
SP8: - -
SP9:
SP10:

ExUns: 14b ^ 15 ^ 16a · 16b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for ALB Gene

GeneLoc Exon Structure for
ALB

Expression for ALB Gene

Products:

  1. Primer
  2. Gene Expression Assay

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

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Liver (x51.9).

Protein differential expression in normal tissues from HIPED for ALB Gene

This gene is overexpressed in Nasopharynx (6.7).

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



Protein tissue co-expression partners for ALB Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ALB

SOURCE GeneReport for Unigene cluster for ALB Gene:

Hs.418167

mRNA Expression by UniProt/SwissProt for ALB Gene:

P02768-ALBU_HUMAN
Tissue specificity: Plasma.

Evidence on tissue expression from TISSUES for ALB Gene

  • Heart(5)
  • Liver(5)
  • Blood(5)
  • Spleen(5)
  • Muscle(5)
  • Kidney(5)
  • Nervous system(5)
  • Urine(4.8)
  • Lung(4.7)
  • Intestine(4.4)
  • Gall bladder(4.2)
  • Pancreas(4.1)
  • Adrenal gland(4)
  • Eye(4)
  • Skin(3.9)
  • Stomach(3.4)
  • Bone marrow(3.4)
  • Lymph node(3.4)
  • Thyroid gland(3.3)
  • Bone(3.3)
  • Saliva(2.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ALB Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • heart
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • duodenum
  • intestine
  • kidney
  • liver
  • small intestine
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood vessel
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with ALB: view

Orthologs for ALB Gene

This gene was present in the common ancestor of chordates.

Orthologs for ALB Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia ALB 30 31
  • 99.34 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia ALB 30 31
  • 82.43 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia ALB 30 31
  • 82.32 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Alb 30 17 31
  • 77.08 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Alb 30
  • 76.26 (n)
Oppossum
(Monodelphis domestica)
 Mammalia ALB 31
  • 66 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia ALB 31
  • 59 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves ALB 30 31
  • 60.37 (n)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia cars2 30
  • 54.04 (n)
Species where no ortholog for ALB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Lizard (Anolis carolinensis)
  • 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 Vase (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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for ALB Gene

ENSEMBL:
Gene Tree for ALB (if available)
TreeFam:
Gene Tree for ALB (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ALB: view image

Paralogs for ALB Gene

Paralogs for ALB Gene

(2) SIMAP similar genes for ALB Gene using alignment to 8 proteins:

  • ALBU_HUMAN
  • B7WNR0_HUMAN
  • C9JKR2_HUMAN
  • D6RCE7_HUMAN
  • D6RHD5_HUMAN
  • H0YA55_HUMAN
  • H7C013_HUMAN
  • Q6LEH2_HUMAN
genes like me logo Genes that share paralogs with ALB: view

Variants for ALB Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Polymorphic Variants from UniProtKB/Swiss-Prot for ALB Gene

ALBU_HUMAN-P02768
A variant structure of albumin could lead to increased binding of zinc resulting in an asymptomatic augmentation of zinc concentration in the blood. The sequence shown is that of variant albumin A.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ALB Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
636260 Pathogenic: Analbuminemia 73,415,073(+) C/CT FRAMESHIFT_VARIANT
783422 Benign: Hyperthyroxinemia, familial dysalbuminemic; not provided 73,412,135(+) C/T INTRON_VARIANT
904660 Likely Benign: Hyperthyroxinemia, familial dysalbuminemic 73,404,315(+) C/T FIVE_PRIME_UTR_VARIANT
904661 Uncertain Significance: Hyperthyroxinemia, familial dysalbuminemic 73,405,145(+) G/A MISSENSE_VARIANT
904662 Uncertain Significance: Hyperthyroxinemia, familial dysalbuminemic 73,406,722(+) T/C SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for ALB Gene

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

Variant ID Type Subtype PubMed ID
dgv956e199 CNV deletion 23128226
esv3310394 CNV mobile element insertion 20981092
esv3346976 CNV insertion 20981092

Variation tolerance for ALB Gene

Residual Variation Intolerance Score: 13.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.05; 21.45% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ALB Gene

Human Gene Mutation Database (HGMD)
ALB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ALB

SNP Genotyping and Copy Number Assay Products

Disorders for ALB Gene

MalaCards: The human disease database

(590) MalaCards diseases for ALB Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ALB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ALBU_HUMAN
  • Hyperthyroxinemia, familial dysalbuminemic (FDAH) [MIM:615999]: A disorder characterized by abnormally elevated levels of total serum thyroxine (T4) in euthyroid patients. It is due to abnormal serum albumin that binds T4 with enhanced affinity. {ECO:0000269 PubMed:7852505, ECO:0000269 PubMed:8048949, ECO:0000269 PubMed:9329347, ECO:0000269 PubMed:9589637}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Analbuminemia (ANALBA) [MIM:616000]: A rare autosomal recessive disorder manifested by the presence of a very low amount of circulating serum albumin. Affected individuals manifest mild edema, hypotension, fatigue, and, occasionally, lower body lipodystrophy (mainly in adult females). The most common biochemical finding is hyperlipidemia, with a significant increase in the total and LDL cholesterol concentrations, but normal concentrations of HDL cholesterol and triglycerides. {ECO:0000269 PubMed:8134387}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ALB

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ALB: view

No data available for Genatlas for ALB Gene

Publications for ALB Gene

  1. A nucleotide insertion and frameshift cause albumin Kénitra, an extended and O-glycosylated mutant of human serum albumin with two additional disulfide bridges. (PMID: 11168369) Minchiotti L … Galliano M (European journal of biochemistry 2001) 3 4 23
  2. Crystal structure of human serum albumin at 2.5 A resolution. (PMID: 10388840) Sugio S … Kobayashi K (Protein engineering 1999) 3 4 23
  3. Protein and DNA sequence analysis of a 'private' genetic variant: albumin Ortonovo (Glu-505-->Lys). (PMID: 7902134) Galliano M … Putnam FW (Biochimica et biophysica acta 1993) 3 4 23
  4. Two alloalbumins with identical electrophoretic mobility are produced by differently charged amino acid substitutions. (PMID: 1347703) Minchiotti L … Porta F (Biochimica et biophysica acta 1992) 3 4 23
  5. Genetic variants of serum albumin in Americans and Japanese. (PMID: 1946412) Madison J … Putnam FW (Proceedings of the National Academy of Sciences of the United States of America 1991) 3 4 23

ExternalLinks

View latest publications for ALB gene in Mastermind

Products for ALB Gene

  • Addgene plasmids for ALB

Sources for ALB Gene