STAB2 stabilin 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: STAB2provided by HGNC
Official Full Name: stabilin 2provided by HGNC
Primary source: HGNC:HGNC:18629
See related: Ensembl:ENSG00000136011 MIM:608561; AllianceGenome:HGNC:18629
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: mouse all
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Genomic context

Location:: 12q23.3

Exon count:: 73

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (103587273..103766719)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (103548545..103728010)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (103981051..104160497)

Chromosome 12 - NC_000012.12 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?

Loss of SATB2 and CDX2 expression is associated with DNA mismatch repair protein deficiency and BRAF mutation in colorectal cancer.
Title: Loss of SATB2 and CDX2 expression is associated with DNA mismatch repair protein deficiency and BRAF mutation in colorectal cancer.
Highly oxidized albumin is cleared by liver sinusoidal endothelial cells via the receptors stabilin-1 and -2.
Title: Highly oxidized albumin is cleared by liver sinusoidal endothelial cells via the receptors stabilin-1 and -2.
A novel mutation of SATB2 inhibits odontogenesis of human dental pulp stem cells through Wnt/beta-catenin signaling pathway.
Title: A novel mutation of SATB2 inhibits odontogenesis of human dental pulp stem cells through Wnt/β-catenin signaling pathway.
High expression of Stabilin-2 predicts poor prognosis in non-small-cell lung cancer.
Title: High expression of Stabilin-2 predicts poor prognosis in non-small-cell lung cancer.
Genome-wide association study on Northern Chinese identifies KLF2, DOT1L and STAB2 associated with systemic lupus erythematosus.
Title: Genome-wide association study on Northern Chinese identifies KLF2, DOT1L and STAB2 associated with systemic lupus erythematosus.
Whole-exome sequencing identifies rare variants in STAB2 associated with venous thromboembolic disease.
Title: Whole-exome sequencing identifies rare variants in STAB2 associated with venous thromboembolic disease.
Macrophages likely require full-length Stab2 for efficient binding and phagocytosis of bacteria or apoptotic cells, since cell-binding domains are throughout the receptor.
Title: Discovery of the Liver Hyaluronan Receptor for Endocytosis (HARE) and Its Progressive Emergence as the Multi-Ligand Scavenger Receptor Stabilin-2.
stabilin-2-expressing cells bind and internalize VWF and FVIII in a VWF-dependent manner, and the stabilin-2 variant p.E2377K significantly decreased stabilin-2 expression and impaired VWF endocytosis in a heterologous expression system
Title: The endothelial cell receptor stabilin-2 regulates VWF-FVIII complex half-life and immunogenicity.
Structural Determinants for the Interactions of Chemically Modified Nucleic Acids with the Stabilin-2 Clearance Receptor.
Title: Structural Determinants for the Interactions of Chemically Modified Nucleic Acids with the Stabilin-2 Clearance Receptor.
Data show that the hyaluronan receptor for endocytosis (HARE) NPLY2519 motif is necessary for both extracellular signal-regulated kinases ERK1/2 and NF-kappa B (NF-kappaB)signaling and that Tyr2519 is critical for these functions.
Title: Activation of ERK and NF-κB during HARE-Mediated Heparin Uptake Require Only One of the Four Endocytic Motifs.

Submit: New GeneRIF Correction See all GeneRIFs (35)

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
A genome-wide association study identifies a region at chromosome 12 as a potential susceptibility locus for restenosis after percutaneous coronary intervention. EBI GWAS Catalog EBI GWAS CatalogPubMed
Combined analysis of three genome-wide association studies on vWF and FVIII plasma levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases. EBI GWAS Catalog EBI GWAS CatalogPubMed
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. 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

RH44575 (e-PCR)
- UniSTS:30978

D12S865 (e-PCR)
- UniSTS:79126

SHGC-33885 (e-PCR)
- UniSTS:40742

WI-17715 (e-PCR)
- UniSTS:39469

A007D24 (e-PCR)
- UniSTS:3911

WI-17162 (e-PCR)
- UniSTS:82

SHGC-132509 (e-PCR)
- UniSTS:173932

D12S360 (e-PCR), detects polymorphism
- UniSTS:76918

D12S360 (e-PCR), detects polymorphism
- UniSTS:61815

G64835 (e-PCR)
- UniSTS:164784

G64836 (e-PCR)
- UniSTS:164785

RH17577 (e-PCR)
- UniSTS:64472

D12S1540 (e-PCR)
- UniSTS:57320

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables hyaluronic acid binding	ISS Inferred from Sequence or Structural Similarity more info
enables low-density lipoprotein particle binding	IBA Inferred from Biological aspect of Ancestor more info
enables low-density lipoprotein particle binding	IDA Inferred from Direct Assay more info	PubMed
enables low-density lipoprotein particle receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables low-density lipoprotein particle receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-disulfide reductase activity	NAS Non-traceable Author Statement more info	PubMed
enables scavenger receptor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in angiogenesis	NAS Non-traceable Author Statement more info	PubMed
involved_in cell adhesion	NAS Non-traceable Author Statement more info	PubMed
involved_in defense response to Gram-positive bacterium	IDA Inferred from Direct Assay more info	PubMed
involved_in defense response to bacterium	IDA Inferred from Direct Assay more info	PubMed
involved_in endocytosis	ISS Inferred from Sequence or Structural Similarity more info
involved_in hyaluronan catabolic process	IEA Inferred from Electronic Annotation more info
involved_in receptor-mediated endocytosis	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in endocytic vesicle membrane	TAS Traceable Author Statement more info
located_in external side of plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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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)

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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.

mRNA and Protein(s)

NM_017564.10 → NP_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

Q6ZMK2, Q7Z5N9, Q86UR4, Q8IUG9, Q8TES1, Q8WWQ8, Q9H7H7, Q9NRY3

Related

ENSP00000373539.2, ENST00000388887.7

Conserved Domains (4) summary

smart00554
Location:2356 → 2449

FAS1; Four repeated domains in the Fasciclin I family of proteins, present in many other contexts

cd03515
Location:2198 → 2290

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:1009 → 1129

Fasciclin; Fasciclin domain

pfam12947
Location:1475 → 1511

EGF_3; EGF domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

103587273..103766719

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011538537.3 → XP_011536839.1 stabilin-2 isoform X1

Conserved Domains (3) summary

pfam02469
Location:1009 → 1129

Fasciclin; Fasciclin domain

pfam12947
Location:1475 → 1511

EGF_3; EGF domain

cl02612
Location:2198 → 2238

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 ...
XM_011538538.4 → XP_011536840.1 stabilin-2 isoform X3

Conserved Domains (3) summary

pfam02469
Location:1009 → 1129

Fasciclin; Fasciclin domain

pfam12947
Location:1475 → 1511

EGF_3; EGF domain

cl02612
Location:2198 → 2238

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 ...
XM_017019585.2 → XP_016875074.1 stabilin-2 isoform X2
XM_047429103.1 → XP_047285059.1 stabilin-2 isoform X6
XM_011538539.3 → XP_011536841.1 stabilin-2 isoform X4

Conserved Domains (5) summary

smart00554
Location:1799 → 1892

FAS1; Four repeated domains in the Fasciclin I family of proteins, present in many other contexts

cd03515
Location:1641 → 1733

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:452 → 572

Fasciclin; Fasciclin domain

pfam12947
Location:918 → 954

EGF_3; EGF domain

cl02663
Location:19 → 97

Fasciclin; Fasciclin domain
XM_011538541.2 → XP_011536843.1 stabilin-2 isoform X5

Conserved Domains (5) summary

smart00554
Location:1489 → 1582

FAS1; Four repeated domains in the Fasciclin I family of proteins, present in many other contexts

cd03515
Location:1331 → 1423

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:142 → 262

Fasciclin; Fasciclin domain

pfam12947
Location:608 → 644

EGF_3; EGF domain

cl21504
Location:502 → 534

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 ...
XM_011538542.3 → XP_011536844.1 stabilin-2 isoform X7

Conserved Domains (5) summary

smart00554
Location:1043 → 1136

FAS1; Four repeated domains in the Fasciclin I family of proteins, present in many other contexts

cd03515
Location:885 → 977

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:304 → 413

Fasciclin; Fasciclin domain

pfam12947
Location:162 → 198

EGF_3; EGF domain

cl21504
Location:56 → 88

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 ...