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    STAB2 stabilin 2 [ Homo sapiens (human) ]

    Gene ID: 55576, updated on 28-Oct-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See STAB2 in Genome Data Viewer
    Location:
    12q23.3
    Exon count:
    73
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (103587273..103766719)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (103548545..103728010)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (103981051..104160497)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene chromosome 12 open reading frame 42 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6893 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6894 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6895 Neighboring gene glutaryl-CoA dehydrogenase, mitochondrial-like Neighboring gene Sharpr-MPRA regulatory region 5508 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:103954215-103955414 Neighboring gene long intergenic non-protein coding RNA 2401 Neighboring gene U8 small nucleolar RNA Neighboring gene uncharacterized LOC105369946 Neighboring gene small nucleolar RNA U13 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:104151936-104152436 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:104163275-104163784 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23254 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23277 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:104192073-104193272 Neighboring gene uncharacterized LOC124903000 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23314 Neighboring gene 5'-nucleotidase domain containing 3 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23365 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23460 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4781 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4782 Neighboring gene uncharacterized LOC107984433 Neighboring gene tetratricopeptide repeat domain 41, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    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
    Combined analysis of three genome-wide association studies on vWF and FVIII plasma levels.
    EBI GWAS Catalog
    Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.
    EBI GWAS Catalog
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • DKFZp434E0321

    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

    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)

    NEW Try the new Transcript table

    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
      Q6ZMK2, Q7Z5N9, Q86UR4, Q8IUG9, Q8TES1, Q8WWQ8, Q9H7H7, Q9NRY3
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      103587273..103766719
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011538537.3XP_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_011538538.4XP_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_017019585.2XP_016875074.1  stabilin-2 isoform X2

    4. XM_047429103.1XP_047285059.1  stabilin-2 isoform X6

    5. XM_011538539.3XP_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
    6. 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 ...
    7. XM_011538542.3XP_011536844.1  stabilin-2 isoform X7

      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_007063104.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      103548545..103728010
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372464.1XP_054228439.1  stabilin-2 isoform X1

    2. XM_054372466.1XP_054228441.1  stabilin-2 isoform X3

    3. XM_054372465.1XP_054228440.1  stabilin-2 isoform X2

    4. XM_054372469.1XP_054228444.1  stabilin-2 isoform X6

    5. XM_054372467.1XP_054228442.1  stabilin-2 isoform X4

    6. XM_054372468.1XP_054228443.1  stabilin-2 isoform X5

    7. XM_054372470.1XP_054228445.1  stabilin-2 isoform X7

    RNA

    1. XR_008488638.1 RNA Sequence