AFM (afamin)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 173
Gene name Afamin
Gene symbol AFM
Synonyms (NCBI Gene)
ALB2ALBAALF
Chromosome 4
Chromosome location 4q13.3
Summary 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. Th
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (17)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 26902720
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region TAS 7517938
GO:0005615 Component Extracellular space HDA 16502470
GO:0005615 Component Extracellular space IDA 12463752, 15952736, 19046407, 26902720
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
104145 316 ENSG00000079557
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P43652
Protein name Afamin (Alpha-albumin) (Alpha-Alb)
Protein function Functions as a carrier for hydrophobic molecules in body fluids (Probable). Essential for the solubility and activity of lipidated Wnt family members, including WNT1, WNT2B, WNT3, WNT3A, WNT5A, WNT7A, WNT7B, WNT8, WNT9A, WNT9B, WNT10A and WNT10B
PDB 5OKL , 6FAK , 6RQ7
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 → 590 Serum albumin family Domain
Tissue specificity TISSUE SPECIFICITY: High level detected in plasma but also in extravascular fluids such as follicular and cerebrospinal fluids (at protein level). {ECO:0000269|PubMed:12463752, ECO:0000269|PubMed:15952736, ECO:0000269|PubMed:7517938}.
Sequence
Sequence length 599
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Gene Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (4)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
KIDNEY FAILURE, ACUTE — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (74)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Kidney Insufficiency Acute Kidney Insufficiency CTD_human_DG 28885000
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 17135274
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 28229174
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy Adrenoleukodystrophy BEFREE 28274107
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 28229174
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 28688336
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 35887259 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 30019775
★★★★★
★☆☆☆☆
Found in Text Mining only
Blood Coagulation Disorders Blood Coagulation Disorders BEFREE 29194678
★★★★★
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain Neoplasms BEFREE 28688336
★★★★★
★☆☆☆☆
Found in Text Mining only