AHSG alpha 2-HS glycoprotein [Homo sapiens (human)] - Gene

Summary

Official Symbol: AHSGprovided by HGNC
Official Full Name: alpha 2-HS glycoproteinprovided by HGNC
Primary source: HGNC:HGNC:349
See related: Ensembl:ENSG00000145192 MIM:138680; AllianceGenome:HGNC:349
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: AHS; A2HS; HSGA; APMR1; FETUA
Summary: The protein encoded by this gene is a negatively-charged serum glycoprotein that is synthesized by hepatocytes. The encoded protein consists of two polypeptide chains, which are both cleaved from a proprotein encoded from a single mRNA. It is involved in several processes, including endocytosis, brain development, and the formation of bone tissue. Defects in this gene are a cause of susceptibility to leanness. [provided by RefSeq, Aug 2017]
Expression: Restricted expression toward liver (RPKM 1605.5) See more
Orthologs: mouse all
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Genomic context

Location:: 3q27.3

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (186613060..186621318)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (189428789..189437047)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (186330849..186339107)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Evaluation of atherosclerotic risk in rosacea patients through serum fetuin-A and carotid intima media thickness.
Title: Evaluation of atherosclerotic risk in rosacea patients through serum fetuin-A and carotid intima media thickness.
EVALUATION OF FETUIN-A LEVEL IN POLYCYSTIC OVARY SYNDROME AND ITS ASSOCIATION WITH ASPROSIN AND SOME BIOCHEMICAL PARAMETERS.
Title: EVALUATION OF FETUIN-A LEVEL IN POLYCYSTIC OVARY SYNDROME AND ITS ASSOCIATION WITH ASPROSIN AND SOME BIOCHEMICAL PARAMETERS.
Fetuin-A and its genetic association with cardiometabolic disease.
Title: Fetuin-A and its genetic association with cardiometabolic disease.
Reduction of fetuin-A levels contributes to impairment of Purkinje cells in cerebella of patients with Parkinson's disease.
Title: Reduction of fetuin-A levels contributes to impairment of Purkinje cells in cerebella of patients with Parkinson's disease.
AHSG, a Gene Promoting Tumour Proliferation, Migration and Invasion, is an Independent Prognostic Factor for Poor Overall Survival in Lung Adenocarcinoma.
Title: AHSG, a Gene Promoting Tumour Proliferation, Migration and Invasion, is an Independent Prognostic Factor for Poor Overall Survival in Lung Adenocarcinoma.
Can Fetuin-A Deficiency Predict the Severity of COVID-19 Disease in Kidney Transplant Recipients?
Title: Can Fetuin-A Deficiency Predict the Severity of COVID-19 Disease in Kidney Transplant Recipients?
Combined Serum NGAL and Fetuin A to Predict 28-Day Mortality in Patients with Sepsis and Risk Prediction Model Construction.
Title: Combined Serum NGAL and Fetuin A to Predict 28-Day Mortality in Patients with Sepsis and Risk Prediction Model Construction.
Fetuin-A: A Novel Biomarker of Bone Damage in Early Axial Spondyloarthritis. Results of an Interim Analysis of the SPACE Study.
Title: Fetuin-A: A Novel Biomarker of Bone Damage in Early Axial Spondyloarthritis. Results of an Interim Analysis of the SPACE Study.
Alpha 2-Heremans-Schmid glycoprotein gene polymorphism (rs4918) is associated with coronary artery calcification in incident peritoneal dialysis patients.
Title: Alpha 2-Heremans-Schmid glycoprotein gene polymorphism (rs4918) is associated with coronary artery calcification in incident peritoneal dialysis patients.
Expression of mir-29a-5p, sclerostin and fetuin-A in patients with chronic kidney disease and their correlation with vascular calcification.
Title: Expression of mir-29a-5p, sclerostin and fetuin-A in patients with chronic kidney disease and their correlation with vascular calcification.

Submit: New GeneRIF Correction See all GeneRIFs (276)

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

Associated conditions

Description	Tests
Alopecia-intellectual disability syndrome 1 MedGen: C1859878 OMIM: 203650 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease. 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH79056 (e-PCR)
- UniSTS:79881

SHGC-2497 (e-PCR)
- UniSTS:12309

HUM00TW154 (e-PCR)
- UniSTS:12310

GDB:181194 (e-PCR)
- UniSTS:155168

SHGC-77611 (e-PCR)
- UniSTS:56370

RH47182 (e-PCR)
- UniSTS:47433

D3S3973 (e-PCR)
- UniSTS:65889

RH80456 (e-PCR)
- UniSTS:90222

SHGC-36465 (e-PCR)
- UniSTS:75660

D3S3887 (e-PCR)
- UniSTS:74904

STS-T96520 (e-PCR)
- UniSTS:9655

STS-M16961 (e-PCR)
- UniSTS:16574

SHGC-79 (e-PCR)
- UniSTS:86759

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cysteine-type endopeptidase inhibitor activity	IEA Inferred from Electronic Annotation more info
enables endopeptidase inhibitor activity	IBA Inferred from Biological aspect of Ancestor more info
enables kinase inhibitor activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in acute-phase response	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of bone mineralization	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of insulin receptor signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in ossification	IEA Inferred from Electronic Annotation more info
involved_in pinocytosis	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of phagocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of bone mineralization	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of inflammatory response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skeletal system development	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
located_in blood microparticle	HDA more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
is_active_in extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular region	HDA more info	PubMed
is_active_in extracellular region	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular region	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	HDA more info	PubMed
located_in extracellular space	NAS Non-traceable Author Statement more info	PubMed
located_in platelet alpha granule lumen	TAS Traceable Author Statement more info
located_in secretory granule lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: alpha-2-HS-glycoprotein

Names: alpha-2-Z-globulin; ba-alpha-2-glycoprotein; fetuin-A

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.

Genomic

NG_011436.1 RefSeqGene

Range

5000..13258

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001354571.2 → NP_001341500.1 alpha-2-HS-glycoprotein isoform 1 preproprotein

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC068631

Consensus CDS

CCDS87176.1

UniProtKB/TrEMBL

B7Z8Q2, C9JV77

Related

ENSP00000273784.5, ENST00000273784.5

Conserved Domains (2) summary

smart00043
Location:31 → 133

CY; Cystatin-like domain

pfam00031
Location:150 → 240

Cystatin; Cystatin domain
NM_001354572.2 → NP_001341501.1 alpha-2-HS-glycoprotein isoform 3 preproprotein

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses two alternate in-frame splice junctions compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is 2 aa shorter compared to isoform 1.

Source sequence(s)

AC068631

UniProtKB/TrEMBL

B7Z8Q2

Conserved Domains (2) summary

pfam00031
Location:148 → 238

Cystatin; Cystatin domain

cl09238
Location:31 → 132

CY; Cystatin-like domain; Cystatins are a family of cysteine protease inhibitors that occur mainly as single domain proteins. However some extracellular proteins such as kininogen, His-rich glycoprotein and fetuin also contain these domains.
NM_001354573.2 → NP_001341502.1 alpha-2-HS-glycoprotein isoform 4 preproprotein

Status: REVIEWED

Description

Transcript Variant: This variant (4) uses an alternate in-frame splice junction and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AC068631

Conserved Domains (2) summary

smart00043
Location:31 → 133

CY; Cystatin-like domain

cl09238
Location:149 → 226

CY; Cystatin-like domain; Cystatins are a family of cysteine protease inhibitors that occur mainly as single domain proteins. However some extracellular proteins such as kininogen, His-rich glycoprotein and fetuin also contain these domains.
NM_001622.4 → NP_001613.2 alpha-2-HS-glycoprotein isoform 2 preproprotein

See identical proteins and their annotated locations for NP_001613.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is 1 aa shorter compared to isoform 1.

Source sequence(s)

AC068631, AK303754, BC052590

Consensus CDS

CCDS3278.1

UniProtKB/Swiss-Prot

A8K9N6, B2R7G1, O14961, O14962, P02765, Q9P152

UniProtKB/TrEMBL

B7Z8Q2

Related

ENSP00000393887.2, ENST00000411641.7

Conserved Domains (2) summary

smart00043
Location:31 → 133

CY; Cystatin-like domain

pfam00031
Location:149 → 239

Cystatin; Cystatin domain