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

Gene ID: 197, updated on 28-Nov-2021

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
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
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Genomic context

See AHSG in Genome Data Viewer
Location:
3q27.3
Exon count:
7
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (186613060..186621318)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (186330849..186339107)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene DnaJ heat shock protein family (Hsp40) member B11 Neighboring gene Sharpr-MPRA regulatory region 9080 Neighboring gene uncharacterized LOC100287402 Neighboring gene fetuin B Neighboring gene HRG and FETUB antisense RNA 1 Neighboring gene histidine rich glycoprotein

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Alopecia-intellectual disability syndrome 1
MedGen: C1859878 OMIM: 203650 GeneReviews: Not available
not available
Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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
PubMed 
enables kinase inhibitor activity NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

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

  1. NG_011436.1 RefSeqGene

    Range
    5000..13258
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001354571.2NP_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
    Related
    ENSP00000273784.5, ENST00000273784.5
    Conserved Domains (2) summary
    smart00043
    Location:31133
    CY; Cystatin-like domain
    pfam00031
    Location:150240
    Cystatin; Cystatin domain
  2. NM_001354572.2NP_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
    Conserved Domains (2) summary
    pfam00031
    Location:148238
    Cystatin; Cystatin domain
    cl09238
    Location:31132
    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.
  3. NM_001354573.2NP_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:31133
    CY; Cystatin-like domain
    cl09238
    Location:149226
    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.
  4. NM_001622.4NP_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
    P02765
    Related
    ENSP00000393887.2, ENST00000411641.7
    Conserved Domains (2) summary
    smart00043
    Location:31133
    CY; Cystatin-like domain
    pfam00031
    Location:149239
    Cystatin; Cystatin domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    186613060..186621318
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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