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STAB2 stabilin 2 [ Homo sapiens (human) ]

Gene ID: 55576, updated on 4-Oct-2020

Summary

Official Symbol
STAB2provided by HGNC
Official Full Name
stabilin 2provided by HGNC
Primary source
HGNC:HGNC:18629
See related
Ensembl:ENSG00000136011 MIM:608561
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
FEX2; HARE; FEEL2; FELL2; FELE-2; SCARH1
Summary
This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 15 epidermal growth factor (EGF)-like, and 2 laminin-type EGF-like domains as well as a C-type lectin-like hyaluronan-binding Link module. The protein is primarily expressed on sinusoidal endothelial cells of liver, spleen, and lymph node. The receptor has been shown to bind and endocytose ligands such as hyaluronan, low density lipoprotein, Gram-positive and Gram-negative bacteria, and advanced glycosylation end products. Supporting its possible role as a scavenger receptor, the protein has been shown to cycle between the plasma membrane and lysosomes. [provided by RefSeq, Jul 2008]
Expression
Biased expression in spleen (RPKM 18.3), liver (RPKM 4.3) and 2 other tissues See more
Orthologs

Genomic context

See STAB2 in Genome Data Viewer
Location:
12q23.3
Exon count:
73
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (103587250..103766724)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (103981069..104160502)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene chromosome 12 open reading frame 42 Neighboring gene glutaryl-CoA dehydrogenase, mitochondrial-like Neighboring gene long intergenic non-protein coding RNA 2401 Neighboring gene uncharacterized LOC105369946 Neighboring gene 5'-nucleotidase domain containing 3 Neighboring gene uncharacterized LOC107984433 Neighboring gene uncharacterized LOC107984130 Neighboring gene tetratricopeptide repeat domain 41, pseudogene

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
A genome-wide association study identifies a region at chromosome 12 as a potential susceptibility locus for restenosis after percutaneous coronary intervention.
GeneReviews: Not available
Combined analysis of three genome-wide association studies on vWF and FVIII plasma levels.
GeneReviews: Not available
Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.
GeneReviews: Not available
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp434E0321

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
hyaluronic acid binding ISS
Inferred from Sequence or Structural Similarity
more info
 
low-density lipoprotein particle binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
low-density lipoprotein particle binding IDA
Inferred from Direct Assay
more info
PubMed 
low-density lipoprotein particle receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
low-density lipoprotein particle receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein disulfide oxidoreductase activity NAS
Non-traceable Author Statement
more info
PubMed 
scavenger receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
angiogenesis NAS
Non-traceable Author Statement
more info
PubMed 
cell adhesion NAS
Non-traceable Author Statement
more info
PubMed 
defense response to Gram-positive bacterium IDA
Inferred from Direct Assay
more info
PubMed 
defense response to bacterium IDA
Inferred from Direct Assay
more info
PubMed 
endocytosis ISS
Inferred from Sequence or Structural Similarity
more info
 
hyaluronan catabolic process TAS
Traceable Author Statement
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
receptor-mediated endocytosis TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
endocytic vesicle membrane TAS
Traceable Author Statement
more info
 
external side of plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
stabilin-2
Names
CD44-like precursor FELL
FAS1 EGF-like and X-link domain containing adhesion molecule-2
fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-2
hepatic hyaluronan clearance receptor
hyaluronan receptor for endocytosis
hyaluronic acid receptor for endocytosis

NCBI Reference Sequences (RefSeq)

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.

mRNA and Protein(s)

  1. NM_017564.10NP_060034.9  stabilin-2 precursor

    See identical proteins and their annotated locations for NP_060034.9

    Status: REVIEWED

    Source sequence(s)
    AC084364, AY311388
    Consensus CDS
    CCDS31888.1
    UniProtKB/Swiss-Prot
    Q8WWQ8
    Related
    ENSP00000373539.2, ENST00000388887.7
    Conserved Domains (4) summary
    smart00554
    Location:23562449
    FAS1; Four repeated domains in the Fasciclin I family of proteins, present in many other contexts
    cd03515
    Location:21982290
    Link_domain_TSG_6_like; This is the extracellular link domain of the type found in human TSG-6. The link domain is a hyaluronan (HA)-binding domain. TSG-6 is the protein product of tumor necrosis factor-stimulated gene-6. TSG-6 is up-regulated in inflammatory lesions and in the ...
    pfam02469
    Location:10091129
    Fasciclin; Fasciclin domain
    pfam12947
    Location:14751511
    EGF_3; EGF domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    103587250..103766724
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011538537.2XP_011536839.1  stabilin-2 isoform X1

    Conserved Domains (3) summary
    pfam02469
    Location:10091129
    Fasciclin; Fasciclin domain
    pfam12947
    Location:14751511
    EGF_3; EGF domain
    cl02612
    Location:21982238
    Link_Domain; The link domain is a hyaluronan (HA)-binding domain. It functions to mediate adhesive interactions during inflammatory leukocyte homing and tumor metastasis. It is found in the CD44 receptor and in human TSG-6. TSG-6 is the protein product of the tumor ...
  2. XM_011538538.3XP_011536840.1  stabilin-2 isoform X3

    Conserved Domains (3) summary
    pfam02469
    Location:10091129
    Fasciclin; Fasciclin domain
    pfam12947
    Location:14751511
    EGF_3; EGF domain
    cl02612
    Location:21982238
    Link_Domain; The link domain is a hyaluronan (HA)-binding domain. It functions to mediate adhesive interactions during inflammatory leukocyte homing and tumor metastasis. It is found in the CD44 receptor and in human TSG-6. TSG-6 is the protein product of the tumor ...
  3. XM_017019585.1XP_016875074.1  stabilin-2 isoform X2

  4. XM_011538539.2XP_011536841.1  stabilin-2 isoform X4

    Conserved Domains (5) summary
    smart00554
    Location:17991892
    FAS1; Four repeated domains in the Fasciclin I family of proteins, present in many other contexts
    cd03515
    Location:16411733
    Link_domain_TSG_6_like; This is the extracellular link domain of the type found in human TSG-6. The link domain is a hyaluronan (HA)-binding domain. TSG-6 is the protein product of tumor necrosis factor-stimulated gene-6. TSG-6 is up-regulated in inflammatory lesions and in the ...
    pfam02469
    Location:452572
    Fasciclin; Fasciclin domain
    pfam12947
    Location:918954
    EGF_3; EGF domain
    cl02663
    Location:1997
    Fasciclin; Fasciclin domain
  5. XM_011538541.2XP_011536843.1  stabilin-2 isoform X5

    Conserved Domains (5) summary
    smart00554
    Location:14891582
    FAS1; Four repeated domains in the Fasciclin I family of proteins, present in many other contexts
    cd03515
    Location:13311423
    Link_domain_TSG_6_like; This is the extracellular link domain of the type found in human TSG-6. The link domain is a hyaluronan (HA)-binding domain. TSG-6 is the protein product of tumor necrosis factor-stimulated gene-6. TSG-6 is up-regulated in inflammatory lesions and in the ...
    pfam02469
    Location:142262
    Fasciclin; Fasciclin domain
    pfam12947
    Location:608644
    EGF_3; EGF domain
    cl21504
    Location:502534
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
  6. XM_011538542.2XP_011536844.1  stabilin-2 isoform X6

    Conserved Domains (5) summary
    smart00554
    Location:10431136
    FAS1; Four repeated domains in the Fasciclin I family of proteins, present in many other contexts
    cd03515
    Location:885977
    Link_domain_TSG_6_like; This is the extracellular link domain of the type found in human TSG-6. The link domain is a hyaluronan (HA)-binding domain. TSG-6 is the protein product of tumor necrosis factor-stimulated gene-6. TSG-6 is up-regulated in inflammatory lesions and in the ...
    pfam02469
    Location:304413
    Fasciclin; Fasciclin domain
    pfam12947
    Location:162198
    EGF_3; EGF domain
    cl21504
    Location:5688
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

RNA

  1. XR_429107.3 RNA Sequence

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