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    SULF2 sulfatase 2 [ Homo sapiens (human) ]

    Gene ID: 55959, updated on 9-Dec-2024

    Summary

    Official Symbol
    SULF2provided by HGNC
    Official Full Name
    sulfatase 2provided by HGNC
    Primary source
    HGNC:HGNC:20392
    See related
    Ensembl:ENSG00000196562 MIM:610013; AllianceGenome:HGNC:20392
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HSULF-2
    Summary
    Heparan sulfate proteoglycans (HSPGs) act as coreceptors for numerous heparin-binding growth factors and cytokines and are involved in cell signaling. Heparan sulfate 6-O-endosulfatases, such as SULF2, selectively remove 6-O-sulfate groups from heparan sulfate. This activity modulates the effects of heparan sulfate by altering binding sites for signaling molecules (Dai et al., 2005 [PubMed 16192265]).[supplied by OMIM, Mar 2008]
    Expression
    Ubiquitous expression in ovary (RPKM 36.9), endometrium (RPKM 36.6) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SULF2 in Genome Data Viewer
    Location:
    20q13.12
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (47657406..47786627, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (49395801..49525734, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (46286150..46415371, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr20.2047 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12980 Neighboring gene RNA, U6 small nuclear 563, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:46152763-46153530 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:46158187-46158687 Neighboring gene nuclear receptor coactivator 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:46190110-46190292 Neighboring gene MPRA-validated peak4234 silencer Neighboring gene ribosomal protein S3A pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:46276897-46277614 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr20:46277615-46278332 Neighboring gene nuclear receptor coactivator 3 repeat instability region Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18000 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18001 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18002 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:46293563-46294548 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:46294549-46295532 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18003 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18004 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:46303203-46304168 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:46307531-46308031 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:46316712-46317262 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:46317263-46317814 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:46326206-46326710 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18005 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:46339340-46339840 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:46339841-46340341 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18006 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:46381087-46381588 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:46381589-46382088 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:46386138-46386895 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:46386896-46387654 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:46387655-46388411 Neighboring gene NANOG hESC enhancer GRCh37_chr20:46390145-46390683 Neighboring gene Sharpr-MPRA regulatory region 8498 Neighboring gene uncharacterized LOC124904922 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18007 Neighboring gene uncharacterized LOC124904920 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18008 Neighboring gene uncharacterized LOC124904921 Neighboring gene uncharacterized LOC107985401 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:46428971-46429590 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr20:46432238-46433192 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr20:46433193-46434147 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:46437768-46438349 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:46438350-46438930 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:46454838-46455538 Neighboring gene RNA, U7 small nuclear 173 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

    EBI GWAS Catalog

    Description
    Common variation in GPC5 is associated with acquired nephrotic syndrome.
    EBI GWAS Catalog
    Genome-wide association scan of the time to onset of attention deficit hyperactivity disorder.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ44488, FLJ90554, KIAA1247, MGC126411, DKFZp313E091

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables N-acetylglucosamine-6-sulfatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables N-acetylglucosamine-6-sulfatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables N-acetylglucosamine-6-sulfatase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables arylsulfatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables arylsulfatase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables glycosaminoglycan binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in bone development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cartilage development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in chondrocyte development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in embryonic skeletal system development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in esophagus smooth muscle contraction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in glial cell-derived neurotrophic factor receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in glomerular basement membrane development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in glomerular basement membrane development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in glomerular filtration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in heparan sulfate proteoglycan metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in heparan sulfate proteoglycan metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in heparan sulfate proteoglycan metabolic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in innervation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in kidney development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in liver regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of fibroblast growth factor receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of fibroblast growth factor receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of Wnt signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of Wnt signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of canonical Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of endothelin production IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of vascular endothelial growth factor production IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of vascular endothelial growth factor production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of hepatocyte proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to wounding IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in Golgi stack IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cell surface IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular region IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in extracellular space NAS
    Non-traceable Author Statement
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    extracellular sulfatase Sulf-2
    Names
    N-acetylglucosamine-6-sulfatase
    arylsulfatase
    NP_001155313.1
    NP_001373977.1
    NP_001373978.1
    NP_001373979.1
    NP_001373980.1
    NP_001373981.1
    NP_001373982.1
    NP_001373983.1
    NP_001373984.1
    NP_061325.1
    NP_940998.2
    XP_047296251.1
    XP_047296252.1
    XP_047296253.1
    XP_047296254.1
    XP_047296255.1
    XP_047296256.1
    XP_047296257.1
    XP_054179677.1
    XP_054179678.1
    XP_054179679.1
    XP_054179680.1
    XP_054179681.1
    XP_054179682.1
    XP_054179683.1

    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_001161841.2NP_001155313.1  extracellular sulfatase Sulf-2 isoform a precursor

      See identical proteins and their annotated locations for NP_001155313.1

      Status: VALIDATED

      Source sequence(s)
      AL034418, AL121777, AL354813
      Consensus CDS
      CCDS13408.1
      UniProtKB/Swiss-Prot
      E1P5U6, Q5JYE1, Q6UX86, Q8IWU5, Q96SG2, Q9H1H0, Q9UJR3, Q9ULH3
      Related
      ENSP00000418290.1, ENST00000484875.5
      Conserved Domains (3) summary
      cd16147
      Location:43385
      G6S; glucosamine (N-acetyl)-6-sulfatase(G6S, GNS) AND sulfatase 1(SULF1)
      pfam12548
      Location:529661
      DUF3740; Sulfatase protein
      cl23718
      Location:749798
      ALP_like; alkaline phosphatases and sulfatases
    2. NM_001387048.1NP_001373977.1  extracellular sulfatase Sulf-2 isoform a precursor

      Status: VALIDATED

      Source sequence(s)
      AL034418, AL121777, AL354813
      Consensus CDS
      CCDS13408.1
      UniProtKB/Swiss-Prot
      E1P5U6, Q5JYE1, Q6UX86, Q8IWU5, Q96SG2, Q9H1H0, Q9UJR3, Q9ULH3
      Related
      ENSP00000508753.1, ENST00000688720.1
      Conserved Domains (3) summary
      cd16147
      Location:43385
      G6S; glucosamine (N-acetyl)-6-sulfatase(G6S, GNS) AND sulfatase 1(SULF1)
      pfam12548
      Location:529661
      DUF3740; Sulfatase protein
      cl23718
      Location:749798
      ALP_like; alkaline phosphatases and sulfatases
    3. NM_001387049.1NP_001373978.1  extracellular sulfatase Sulf-2 isoform a precursor

      Status: VALIDATED

      Source sequence(s)
      AL034418, AL121777, AL354813
      Consensus CDS
      CCDS13408.1
      UniProtKB/Swiss-Prot
      E1P5U6, Q5JYE1, Q6UX86, Q8IWU5, Q96SG2, Q9H1H0, Q9UJR3, Q9ULH3
      Conserved Domains (3) summary
      cd16147
      Location:43385
      G6S; glucosamine (N-acetyl)-6-sulfatase(G6S, GNS) AND sulfatase 1(SULF1)
      pfam12548
      Location:529661
      DUF3740; Sulfatase protein
      cl23718
      Location:749798
      ALP_like; alkaline phosphatases and sulfatases
    4. NM_001387050.1NP_001373979.1  extracellular sulfatase Sulf-2 isoform c precursor

      Status: VALIDATED

      Source sequence(s)
      AL034418, AL121777, AL354813
      Conserved Domains (3) summary
      cd16147
      Location:43385
      G6S; glucosamine (N-acetyl)-6-sulfatase(G6S, GNS) AND sulfatase 1(SULF1)
      pfam12548
      Location:529662
      DUF3740; Sulfatase protein
      cl23718
      Location:750799
      ALP_like; alkaline phosphatases and sulfatases
    5. NM_001387051.1NP_001373980.1  extracellular sulfatase Sulf-2 isoform d precursor

      Status: VALIDATED

      Source sequence(s)
      AL034418, AL121777, AL354813
      Conserved Domains (3) summary
      cd16147
      Location:43385
      G6S; glucosamine (N-acetyl)-6-sulfatase(G6S, GNS) AND sulfatase 1(SULF1)
      pfam12548
      Location:529661
      DUF3740; Sulfatase protein
      cl23718
      Location:749798
      ALP_like; alkaline phosphatases and sulfatases
    6. NM_001387052.1NP_001373981.1  extracellular sulfatase Sulf-2 isoform e precursor

      Status: VALIDATED

      Source sequence(s)
      AL034418, AL121777, AL354813
      Conserved Domains (3) summary
      cd16147
      Location:43385
      G6S; glucosamine (N-acetyl)-6-sulfatase(G6S, GNS) AND sulfatase 1(SULF1)
      pfam12548
      Location:529662
      DUF3740; Sulfatase protein
      cl23718
      Location:750799
      ALP_like; alkaline phosphatases and sulfatases
    7. NM_001387053.1NP_001373982.1  extracellular sulfatase Sulf-2 isoform e precursor

      Status: VALIDATED

      Source sequence(s)
      AL034418, AL121777, AL354813
      Conserved Domains (3) summary
      cd16147
      Location:43385
      G6S; glucosamine (N-acetyl)-6-sulfatase(G6S, GNS) AND sulfatase 1(SULF1)
      pfam12548
      Location:529662
      DUF3740; Sulfatase protein
      cl23718
      Location:750799
      ALP_like; alkaline phosphatases and sulfatases
    8. NM_001387054.1NP_001373983.1  extracellular sulfatase Sulf-2 isoform e precursor

      Status: VALIDATED

      Source sequence(s)
      AL034418, AL121777, AL354813
      Conserved Domains (3) summary
      cd16147
      Location:43385
      G6S; glucosamine (N-acetyl)-6-sulfatase(G6S, GNS) AND sulfatase 1(SULF1)
      pfam12548
      Location:529662
      DUF3740; Sulfatase protein
      cl23718
      Location:750799
      ALP_like; alkaline phosphatases and sulfatases
    9. NM_001387055.1NP_001373984.1  extracellular sulfatase Sulf-2 isoform e precursor

      Status: VALIDATED

      Source sequence(s)
      AL034418, AL121777, AL354813
      Conserved Domains (3) summary
      cd16147
      Location:43385
      G6S; glucosamine (N-acetyl)-6-sulfatase(G6S, GNS) AND sulfatase 1(SULF1)
      pfam12548
      Location:529662
      DUF3740; Sulfatase protein
      cl23718
      Location:750799
      ALP_like; alkaline phosphatases and sulfatases
    10. NM_018837.4NP_061325.1  extracellular sulfatase Sulf-2 isoform a precursor

      See identical proteins and their annotated locations for NP_061325.1

      Status: VALIDATED

      Source sequence(s)
      AL034418, AL121777, AL354813
      Consensus CDS
      CCDS13408.1
      UniProtKB/Swiss-Prot
      E1P5U6, Q5JYE1, Q6UX86, Q8IWU5, Q96SG2, Q9H1H0, Q9UJR3, Q9ULH3
      Related
      ENSP00000353007.4, ENST00000359930.8
      Conserved Domains (3) summary
      cd16147
      Location:43385
      G6S; glucosamine (N-acetyl)-6-sulfatase(G6S, GNS) AND sulfatase 1(SULF1)
      pfam12548
      Location:529661
      DUF3740; Sulfatase protein
      cl23718
      Location:749798
      ALP_like; alkaline phosphatases and sulfatases
    11. NM_198596.3NP_940998.2  extracellular sulfatase Sulf-2 isoform b precursor

      See identical proteins and their annotated locations for NP_940998.2

      Status: VALIDATED

      Source sequence(s)
      AL034418, AL121777, AL354813
      Consensus CDS
      CCDS13409.2
      UniProtKB/Swiss-Prot
      Q8IWU5
      Related
      ENSP00000418442.1, ENST00000467815.5
      Conserved Domains (4) summary
      COG3119
      Location:43395
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      pfam12548
      Location:535661
      DUF3740; Sulfatase protein
      cd16147
      Location:43385
      G6S; glucosamine (N-acetyl)-6-sulfatase(G6S, GNS) AND sulfatase 1(SULF1)
      cl23718
      Location:749798
      ALP_like; alkaline phosphatases and sulfatases

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      47657406..47786627 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047440296.1XP_047296252.1  extracellular sulfatase Sulf-2 isoform X2

      UniProtKB/Swiss-Prot
      E1P5U6, Q5JYE1, Q6UX86, Q8IWU5, Q96SG2, Q9H1H0, Q9UJR3, Q9ULH3
    2. XM_047440295.1XP_047296251.1  extracellular sulfatase Sulf-2 isoform X1

    3. XM_047440297.1XP_047296253.1  extracellular sulfatase Sulf-2 isoform X3

    4. XM_047440300.1XP_047296256.1  extracellular sulfatase Sulf-2 isoform X4

    5. XM_047440298.1XP_047296254.1  extracellular sulfatase Sulf-2 isoform X3

    6. XM_047440299.1XP_047296255.1  extracellular sulfatase Sulf-2 isoform X4

    7. XM_047440301.1XP_047296257.1  extracellular sulfatase Sulf-2 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      49395801..49525734 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323703.1XP_054179678.1  extracellular sulfatase Sulf-2 isoform X6

      UniProtKB/Swiss-Prot
      E1P5U6, Q5JYE1, Q6UX86, Q8IWU5, Q96SG2, Q9H1H0, Q9UJR3, Q9ULH3
    2. XM_054323702.1XP_054179677.1  extracellular sulfatase Sulf-2 isoform X5

    3. XM_054323704.1XP_054179679.1  extracellular sulfatase Sulf-2 isoform X3

    4. XM_054323706.1XP_054179681.1  extracellular sulfatase Sulf-2 isoform X4

    5. XM_054323705.1XP_054179680.1  extracellular sulfatase Sulf-2 isoform X3

    6. XM_054323707.1XP_054179682.1  extracellular sulfatase Sulf-2 isoform X4

    7. XM_054323708.1XP_054179683.1  extracellular sulfatase Sulf-2 isoform X4