ALB (albumin)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 213
Gene name Albumin
Gene symbol ALB
Synonyms (NCBI Gene)
FDAHTHSAPRO0883PRO0903PRO1341
Chromosome 4
Chromosome location 4q13.3
Summary 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 metab
SNPs SNP information provided by dbSNP.
12
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (12)
SNP ID Visualize variation Clinical significance Consequence
rs74821926 G>A,C,T Pathogenic, other Missense variant, coding sequence variant
rs75002628 G>A,C Affects, uncertain-significance Missense variant, coding sequence variant
rs75152012 AT>- Not-provided, pathogenic Frameshift variant, coding sequence variant
rs75353611 A>T Pathogenic Missense variant, coding sequence variant
rs77238412 C>G,T Pathogenic, other Stop gained, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
6
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT006073 hsa-miR-492 MicroarrayqRT-PCR 21319197
MIRT006073 hsa-miR-492 MicroarrayqRT-PCR 21319197
MIRT006073 hsa-miR-492 MicroarrayqRT-PCR 21319197
MIRT776865 hsa-miR-4753-3p CLIP-seq
MIRT776866 hsa-miR-4768-5p CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
CEBPA Unknown 10542249
CEBPB Unknown 10542249
HNF1A Unknown 1321810
TEF Activation 8617210
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
37
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0003677 Function DNA binding IDA 16405401
GO:0005504 Function Fatty acid binding IDA 16289007, 16413837
GO:0005504 Function Fatty acid binding NAS 9731778
GO:0005507 Function Copper ion binding NAS 14726550
GO:0005515 Function Protein binding IPI 9183005, 16099937, 23384347, 32814053
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
103600 399 ENSG00000163631
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P02768
Protein name Albumin
Protein 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 al
PDB 1AO6 , 1BJ5 , 1BKE , 1BM0 , 1E78 , 1E7A , 1E7B , 1E7C , 1E7E , 1E7F , 1E7G , 1E7H , 1E7I , 1GNI , 1GNJ , 1H9Z , 1HA2 , 1HK1 , 1HK2 , 1HK3 , 1HK4 , 1HK5 , 1N5U , 1O9X , 1TF0 , 1UOR , 1YSX , 2BX8 , 2BXA , 2BXB , 2BXC , 2BXD , 2BXE , 2BXF , 2BXG , 2BXH , 2BXI , 2BXK , 2BXL , 2BXM , 2BXN , 2BXO , 2BXP , 2BXQ , 2ESG , 2I2Z , 2I30 , 2N0X , 2VDB , 2VUE , 2VUF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00273 Serum_albumin 30 → 202 Serum albumin family Domain
PF00273 Serum_albumin 222 → 394 Serum albumin family Domain
PF00273 Serum_albumin 414 → 592 Serum albumin family Domain
Tissue specificity TISSUE SPECIFICITY: Plasma.
Sequence
Sequence length 609
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Thyroid hormone synthesis   Platelet degranulation
Recycling of bile acids and salts
Heme biosynthesis
Heme degradation
Scavenging of heme from plasma
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Transport of organic anions
Post-translational protein phosphorylation
HDL remodeling
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
138
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (5)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ALBUMIN B Pathogenic rs79228041 RCV000019862
Alloalbuminemia Pathogenic rs74821926, rs75353611 RCV001796717
RCV001796718
Analbuminemia Pathogenic; Likely pathogenic rs75470261, rs75152012, rs77238412, rs76454301, rs768570250, rs77335374, rs77449454, rs1577939845 RCV000144398
RCV000144403
RCV000144404
RCV000144407
RCV003148494
RCV000019869
RCV000019885
RCV000787975
Analbuminemia Baghdad Pathogenic rs77408163 RCV000019901
Show/Hide Unknown Diseases (47)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
- no classification for the single variant rs78953271 -
ALB-related disorder Likely benign; Conflicting classifications of pathogenicity rs79568748, rs75002628 RCV003936789
RCV004758596
ALBUMIN ASOLA other rs78283180 RCV000019891
ALBUMIN BAZZANO other rs74674594 RCV000019890
Show/Hide Text Mining Associations (314)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abortion Spontaneous Associate 32665066, 35955896
Acute Kidney Injury Associate 20224435, 20599305, 20827258
Acute Lung Injury Associate 29151698
Acute On Chronic Liver Failure Associate 38111573
Adenocarcinoma Stimulate 35381789, 36292960
Adenocarcinoma Associate 35842220
Adenocarcinoma of Lung Associate 33181687, 36782138
Adrenocortical Carcinoma Associate 29299796
Albuminuria Stimulate 19424162
Albuminuria Associate 23114252, 35863591