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    SSUH2 ssu-2 homolog [ Homo sapiens (human) ]

    Gene ID: 51066, updated on 28-Oct-2024

    Summary

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    Official Symbol
    SSUH2provided by HGNC
    Official Full Name
    ssu-2 homologprovided by HGNC
    Primary source
    HGNC:HGNC:24809
    See related
    Ensembl:ENSG00000125046 MIM:617479; AllianceGenome:HGNC:24809
    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
    SSU-2; fls485; C3orf32
    Summary
    Predicted to enable heat shock protein binding activity and unfolded protein binding activity. Involved in odontogenesis. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Biased expression in testis (RPKM 1.1), small intestine (RPKM 0.7) and 8 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SSUH2 in Genome Data Viewer
    Location:
    3p25.3
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (8619386..8681927, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (8610753..8673128, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (8661072..8693770, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene LMCD1 antisense RNA 1 Neighboring gene uncharacterized LOC107986010 Neighboring gene RNA, U4atac small nuclear 17, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:8413440-8413972 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:8413973-8414503 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:8453270-8453770 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:8482473-8482990 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:8497791-8498357 Neighboring gene Sharpr-MPRA regulatory region 2381 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:8540163-8541096 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:8541097-8542030 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:8577298-8578266 Neighboring gene LIM and cysteine rich domains 1 Neighboring gene uncharacterized LOC107986009 Neighboring gene long intergenic non-protein coding RNA 312 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:8652364-8653245 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:8653246-8654126 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:8664536-8665156 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19390 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19391 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19392 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19393 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14028 Neighboring gene MPRA-validated peak4531 silencer Neighboring gene olfactory receptor family 7 subfamily E member 122 pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr3:8765327-8765828 Neighboring gene caveolin 3 Neighboring gene oxytocin receptor

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Small intestinal mucosa expression of putative chaperone fls485. Reinartz A, et al. BMC Gastroenterol, 2010 Mar 7. PMID 20205943, Free PMC Article
    2. Mutation in SSUH2 Causes Autosomal-Dominant Dentin Dysplasia Type I. Xiong F, et al. Hum Mutat, 2017 Jan. PMID 27680507
    3. Direct interaction between hnRNP-M and CDC5L/PLRG1 proteins affects alternative splice site choice. Llères D, et al. EMBO Rep, 2010 Jun. PMID 20467437, Free PMC Article
    4. Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. Maruyama K, et al. Gene, 1994 Jan 28. PMID 8125298
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • FLJ35706, AC087859.1

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables heat shock protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables unfolded protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in odontogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein SSUH2 homolog
    Names
    protein ssu-2 homolog

    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)

    1. NM_001256748.3 → NP_001243677.1  protein SSUH2 homolog isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC034187
      Consensus CDS
      CCDS58815.1
      UniProtKB/Swiss-Prot
      A6NFA9, B3KS84, B7Z6E3, F5H2S5, Q7Z7K4, Q9Y2M2
      Related
      ENSP00000439378.1, ENST00000544814.7
      Conserved Domains (1) summary
      cd10719
      Location:177 → 244
      DnaJ_zf; Zinc finger domain of DnaJ and HSP40

    2. NM_001256749.3 → NP_001243678.1  protein SSUH2 homolog isoform 2

      See identical proteins and their annotated locations for NP_001243678.1

      Status: VALIDATED

      Source sequence(s)
      AC034187
      Consensus CDS
      CCDS2568.2
      UniProtKB/TrEMBL
      C9JAQ0
      Related
      ENSP00000390328.2, ENST00000420394.5
      Conserved Domains (1) summary
      COG0484
      Location:66 → 173
      DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]

    3. NM_015931.4 → NP_057015.2  protein SSUH2 homolog isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC034187
      Consensus CDS
      CCDS2568.2
      UniProtKB/TrEMBL
      C9JAQ0
      Related
      ENSP00000339150.4, ENST00000341795.7
      Conserved Domains (1) summary
      COG0484
      Location:66 → 173
      DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]

    RNA

    1. NR_046358.3 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC034187
      Related
      ENST00000413305.5

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      8619386..8681927 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047448236.1 → XP_047304192.1  protein SSUH2 homolog isoform X2

    2. XM_047448234.1 → XP_047304190.1  protein SSUH2 homolog isoform X2

    3. XM_017006515.2 → XP_016862004.1  protein SSUH2 homolog isoform X2

      Conserved Domains (1) summary
      COG0484
      Location:322 → 429
      DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]

    4. XM_017006528.2 → XP_016862017.1  protein SSUH2 homolog isoform X5

    5. XM_017006523.2 → XP_016862012.1  protein SSUH2 homolog isoform X6

    6. XM_017006513.2 → XP_016862002.1  protein SSUH2 homolog isoform X2

      Conserved Domains (1) summary
      COG0484
      Location:322 → 429
      DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]

    7. XM_017006512.2 → XP_016862001.1  protein SSUH2 homolog isoform X2

      Conserved Domains (1) summary
      COG0484
      Location:322 → 429
      DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]

    8. XM_017006524.2 → XP_016862013.1  protein SSUH2 homolog isoform X7

    9. XM_017006522.2 → XP_016862011.1  protein SSUH2 homolog isoform X6

    10. XM_047448233.1 → XP_047304189.1  protein SSUH2 homolog isoform X2

    11. XM_047448235.1 → XP_047304191.1  protein SSUH2 homolog isoform X2

    12. XM_047448231.1 → XP_047304187.1  protein SSUH2 homolog isoform X2

    13. XM_017006521.2 → XP_016862010.1  protein SSUH2 homolog isoform X6

    14. XM_017006514.2 → XP_016862003.1  protein SSUH2 homolog isoform X2

      Conserved Domains (1) summary
      COG0484
      Location:322 → 429
      DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]

    15. XM_017006511.2 → XP_016862000.1  protein SSUH2 homolog isoform X2

      Conserved Domains (1) summary
      COG0484
      Location:322 → 429
      DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]

    16. XM_017006525.2 → XP_016862014.1  protein SSUH2 homolog isoform X8

    17. XM_017006527.2 → XP_016862016.1  protein SSUH2 homolog isoform X5

    18. XM_047448230.1 → XP_047304186.1  protein SSUH2 homolog isoform X2

    19. XM_017006534.2 → XP_016862023.1  protein SSUH2 homolog isoform X11

    20. XM_017006533.2 → XP_016862022.1  protein SSUH2 homolog isoform X10

    21. XM_017006518.2 → XP_016862007.1  protein SSUH2 homolog isoform X3

    22. XM_047448237.1 → XP_047304193.1  protein SSUH2 homolog isoform X2

    23. XM_017006526.2 → XP_016862015.1  protein SSUH2 homolog isoform X9

    24. XM_017006517.2 → XP_016862006.1  protein SSUH2 homolog isoform X2

      Conserved Domains (1) summary
      COG0484
      Location:322 → 429
      DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]

    25. XM_017006520.2 → XP_016862009.2  protein SSUH2 homolog isoform X5

    26. XM_017006529.2 → XP_016862018.1  protein SSUH2 homolog isoform X5

    27. XM_017006519.2 → XP_016862008.2  protein SSUH2 homolog isoform X4

    28. XM_017006510.2 → XP_016861999.2  protein SSUH2 homolog isoform X1

    29. XM_017006516.2 → XP_016862005.1  protein SSUH2 homolog isoform X2

      Conserved Domains (1) summary
      COG0484
      Location:322 → 429
      DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]

    30. XM_017006542.2 → XP_016862031.1  protein SSUH2 homolog isoform X12

      Conserved Domains (1) summary
      cl21539
      Location:155 → 222
      DnaJ_zf; Zinc finger domain of DnaJ and HSP40

    31. XM_017006541.2 → XP_016862030.1  protein SSUH2 homolog isoform X12

      Conserved Domains (1) summary
      cl21539
      Location:155 → 222
      DnaJ_zf; Zinc finger domain of DnaJ and HSP40

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      8610753..8673128 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346694.1 → XP_054202669.1  protein SSUH2 homolog isoform X2

    2. XM_054346693.1 → XP_054202668.1  protein SSUH2 homolog isoform X2

    3. XM_054346710.1 → XP_054202685.1  protein SSUH2 homolog isoform X5

    4. XM_054346704.1 → XP_054202679.1  protein SSUH2 homolog isoform X6

    5. XM_054346690.1 → XP_054202665.1  protein SSUH2 homolog isoform X2

    6. XM_054346688.1 → XP_054202663.1  protein SSUH2 homolog isoform X2

    7. XM_054346705.1 → XP_054202680.1  protein SSUH2 homolog isoform X7

    8. XM_054346703.1 → XP_054202678.1  protein SSUH2 homolog isoform X6

    9. XM_054346702.1 → XP_054202677.1  protein SSUH2 homolog isoform X6

    10. XM_054346691.1 → XP_054202666.1  protein SSUH2 homolog isoform X2

    11. XM_054346689.1 → XP_054202664.1  protein SSUH2 homolog isoform X2

    12. XM_054346706.1 → XP_054202681.1  protein SSUH2 homolog isoform X8

    13. XM_054346708.1 → XP_054202683.1  protein SSUH2 homolog isoform X5

    14. XM_054346687.1 → XP_054202662.1  protein SSUH2 homolog isoform X2

    15. XM_054346712.1 → XP_054202687.1  protein SSUH2 homolog isoform X11

    16. XM_054346711.1 → XP_054202686.1  protein SSUH2 homolog isoform X10

    17. XM_054346699.1 → XP_054202674.1  protein SSUH2 homolog isoform X3

    18. XM_054346696.1 → XP_054202671.1  protein SSUH2 homolog isoform X2

    19. XM_054346692.1 → XP_054202667.1  protein SSUH2 homolog isoform X2

    20. XM_054346695.1 → XP_054202670.1  protein SSUH2 homolog isoform X2

    21. XM_054346707.1 → XP_054202682.1  protein SSUH2 homolog isoform X9

    22. XM_054346698.1 → XP_054202673.1  protein SSUH2 homolog isoform X2

    23. XM_054346701.1 → XP_054202676.1  protein SSUH2 homolog isoform X13

    24. XM_054346709.1 → XP_054202684.1  protein SSUH2 homolog isoform X5

    25. XM_054346700.1 → XP_054202675.1  protein SSUH2 homolog isoform X4

    26. XM_054346686.1 → XP_054202661.1  protein SSUH2 homolog isoform X1

    27. XM_054346697.1 → XP_054202672.1  protein SSUH2 homolog isoform X2

    28. XM_054346714.1 → XP_054202689.1  protein SSUH2 homolog isoform X12

    29. XM_054346713.1 → XP_054202688.1  protein SSUH2 homolog isoform X12

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y2M2.2 GenPept UniProtKB/Swiss-Prot:Q9Y2M2

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