AFM afamin [Homo sapiens (human)] - Gene

Summary

Official Symbol: AFMprovided by HGNC
Official Full Name: afaminprovided by HGNC
Primary source: HGNC:HGNC:316
See related: Ensembl:ENSG00000079557 MIM:104145; AllianceGenome:HGNC:316
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ALF; ALB2; ALBA
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. The protein encoded by this gene is regulated developmentally, expressed in the liver and secreted into the bloodstream. [provided by RefSeq, Jul 2008]
Expression: Restricted expression toward liver (RPKM 187.4) See more
Orthologs: mouse all
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Genomic context

Location:: 4q13.3

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (73481745..73504001)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (76825372..76847610)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (74347462..74369718)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Comparison of Afamin Values in Umbilical Cord Blood After Delivery in Pregnancies With and Without Gestational Diabetes Mellitus.
Title: Comparison of Afamin Values in Umbilical Cord Blood After Delivery in Pregnancies With and Without Gestational Diabetes Mellitus.
Investigation of serum afamin concentration in pregnant women diagnosed with late fetal growth restriction or small for gestational age fetus.
Title: Investigation of serum afamin concentration in pregnant women diagnosed with late fetal growth restriction or small for gestational age fetus.
AFM negatively regulates the infiltration of monocytes to mediate sepsis-associated acute kidney injury.
Title: AFM negatively regulates the infiltration of monocytes to mediate sepsis-associated acute kidney injury.
Afamin Levels and Their Correlation with Oxidative and Lipid Parameters in Non-diabetic, Obese Patients.
Title: Afamin Levels and Their Correlation with Oxidative and Lipid Parameters in Non-diabetic, Obese Patients.
Novel metabolic marker Afamin: A predictive factor for Large-for-Gestational-Age (LGA) fetus estimation in pregnancies with gestational diabetes mellitus?
Title: Novel metabolic marker Afamin: A predictive factor for Large-for-Gestational-Age (LGA) fetus estimation in pregnancies with gestational diabetes mellitus?
Seminal Plasma and Serum Afamin Levels Are Associated with Infertility in Men with Oligoasthenoteratozoospermia.
Title: Seminal Plasma and Serum Afamin Levels Are Associated with Infertility in Men with Oligoasthenoteratozoospermia.
Serum Afamin a Novel Marker of Increased Hepatic Lipid Content.
Title: Serum Afamin a Novel Marker of Increased Hepatic Lipid Content.
Identification and Validation of Combination Plasma Biomarker of Afamin, Fibronectin and Sex Hormone-Binding Globulin to Predict Pre-eclampsia.
Title: Identification and Validation of Combination Plasma Biomarker of Afamin, Fibronectin and Sex Hormone-Binding Globulin to Predict Pre-eclampsia.
Serum afamin concentrations are elevated in the first trimester among patients developing preeclampsia later in pregnancy compared to controls
Title: Afamin: an early predictor of preeclampsia.
The results showed significantly higher serum afamin levels in women with pre-eclampsia and gestational diabetes mellitus compared to healthy pregnant women.
Title: Combination of first trimester serum afamin levels and three-dimensional placental bed vascularization as a possible screening method to detect women at-risk for adverse pregnancy complications like pre-eclampsia and gestational diabetes mellitus in low-risk pregnancies.

Submit: New GeneRIF Correction See all GeneRIFs (22)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of afamin (AFM) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-59867 (e-PCR)
- UniSTS:55819

D4S1517 (e-PCR), detects polymorphism
- UniSTS:23059

PMC310762P7 (e-PCR)
- UniSTS:272675

RH94242 (e-PCR)
- UniSTS:85624

STS-L32140 (e-PCR)
- UniSTS:41974

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables vitamin E binding	IBA Inferred from Biological aspect of Ancestor more info
enables vitamin E binding	IDA Inferred from Direct Assay more info	PubMed
enables vitamin E binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in protein stabilization	IDA Inferred from Direct Assay more info	PubMed
involved_in protein transport within extracellular region	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein transport within extracellular region	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vitamin transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in vitamin transport	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in blood microparticle	HDA more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info	PubMed
located_in extracellular space	HDA more info	PubMed
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: afamin

Names: alpha-Alb; alpha-albumin; vitamin E binding protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.