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

Gene ID: 51066, updated on 5-Mar-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
Involved in odontogenesis. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in testis (RPKM 1.1), small intestine (RPKM 0.7) and 8 other tissues See more
Orthologs
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Genomic context

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Location:
3p25.3
Exon count:
26
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (8619386..8681927, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (8610753..8673128, complement)
105.20220307 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
  • 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 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_2023_10

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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