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    PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 [ Homo sapiens (human) ]

    Gene ID: 9060, updated on 17-Jun-2024

    Summary

    Official Symbol
    PAPSS2provided by HGNC
    Official Full Name
    3'-phosphoadenosine 5'-phosphosulfate synthase 2provided by HGNC
    Primary source
    HGNC:HGNC:8604
    See related
    Ensembl:ENSG00000198682 MIM:603005; AllianceGenome:HGNC:8604
    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
    SK2; BCYM4; ATPSK2
    Summary
    Sulfation is a common modification of endogenous (lipids, proteins, and carbohydrates) and exogenous (xenobiotics and drugs) compounds. In mammals, the sulfate source is 3'-phosphoadenosine 5'-phosphosulfate (PAPS), created from ATP and inorganic sulfate. Two different tissue isoforms encoded by different genes synthesize PAPS. This gene encodes one of the two PAPS synthetases. Defects in this gene cause the Pakistani type of spondyloepimetaphyseal dysplasia. Two alternatively spliced transcript variants that encode different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in adrenal (RPKM 79.2), lung (RPKM 47.5) and 18 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See PAPSS2 in Genome Data Viewer
    Location:
    10q23.2-q23.31
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (87659878..87747705)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (88543727..88631613)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (89419635..89507462)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378412 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3709 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3710 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:89386301-89387109 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3711 Neighboring gene NANOG hESC enhancer GRCh37_chr10:89398621-89399136 Neighboring gene NANOG hESC enhancer GRCh37_chr10:89399137-89399651 Neighboring gene ribosomal protein S26 pseudogene 38 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2583 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:89503239-89503738 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3712 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:89526475-89526686 Neighboring gene uncharacterized LOC124902476 Neighboring gene ATPase family AAA domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2584 Neighboring gene cofilin 1 pseudogene 1 Neighboring gene RNA, 7SL, cytoplasmic 78, 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
    Spondyloepimetaphyseal dysplasia, PAPSS2 type
    MedGen: C2748515 OMIM: 612847 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study of exercise behavior in Dutch and American adults.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables adenylylsulfate kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables adenylylsulfate kinase activity IC
    Inferred by Curator
    more info
    PubMed 
    enables adenylylsulfate kinase activity TAS
    Traceable Author Statement
    more info
     
    enables nucleotidyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables sulfate adenylyltransferase (ATP) activity IC
    Inferred by Curator
    more info
    PubMed 
    enables sulfate adenylyltransferase (ATP) activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables sulfate adenylyltransferase (ATP) activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    involved_in 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process TAS
    Traceable Author Statement
    more info
     
    involved_in blood coagulation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in bone development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hormone metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in sulfate assimilation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in sulfate assimilation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sulfate assimilation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2
    Names
    3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2
    ATP sulfurylase/APS kinase 2
    ATP sulfurylase/adenosine 5'-phosphosulfate kinase
    PAPS synthase 2
    PAPS synthetase 2
    SK 2
    adenosine 5'-phosphosulfate kinase
    adenylyl-sulfate kinase
    bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthethase 2
    epididymis secretory sperm binding protein
    sulfate adenylyltransferase
    NP_001015880.1
    NP_004661.2

    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.

    Genomic

    1. NG_012150.1 RefSeqGene

      Range
      5160..92987
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001015880.2NP_001015880.1  bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2 isoform b

      See identical proteins and their annotated locations for NP_001015880.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) includes an alternate in-frame segment, compared to variant 1, resulting in a longer protein (isoform 2), compared to isoform 1. Isoform 2 has also been named PAPS synthase 2b.
      Source sequence(s)
      AF150754, BC009894, BQ221395, BQ772647, BQ888954, CB960618
      Consensus CDS
      CCDS44453.1
      UniProtKB/TrEMBL
      B4DWB5
      Related
      ENSP00000406157.1, ENST00000456849.2
      Conserved Domains (2) summary
      cd00517
      Location:244612
      ATPS; ATP-sulfurylase
      cd02027
      Location:44194
      APSK; Adenosine 5'-phosphosulfate kinase (APSK) catalyzes the phosphorylation of adenosine 5'-phosphosulfate to form 3'-phosphoadenosine 5'-phosphosulfate (PAPS). The end-product PAPS is a biologically "activated" sulfate form important for the assimilation of ...
    2. NM_004670.4NP_004661.2  bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2 isoform a

      See identical proteins and their annotated locations for NP_004661.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the more frequently occurring transcript. It encodes isoform a, which has also been named PAPS synthase 2a.
      Source sequence(s)
      BC009894, BQ772647, BQ888954
      Consensus CDS
      CCDS7385.1
      UniProtKB/Swiss-Prot
      O95340, Q9BZL2, Q9P0G6, Q9UHM1, Q9UKD3, Q9UP30
      UniProtKB/TrEMBL
      B4DWB5, Q5TB52
      Related
      ENSP00000354436.4, ENST00000361175.8
      Conserved Domains (2) summary
      cd00517
      Location:244607
      ATPS; ATP-sulfurylase
      cd02027
      Location:44194
      APSK; Adenosine 5'-phosphosulfate kinase (APSK) catalyzes the phosphorylation of adenosine 5'-phosphosulfate to form 3'-phosphoadenosine 5'-phosphosulfate (PAPS). The end-product PAPS is a biologically "activated" sulfate form important for the assimilation of ...

    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

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      87659878..87747705
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      88543727..88631613
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)