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Aliases for SSUH2 Gene

Aliases for SSUH2 Gene

  • Ssu-2 Homolog (C. Elegans) 2 3 5
  • Protein Ssu-2 Homolog 3 4
  • C3orf32 3 4
  • Chromosome 3 Open Reading Frame 32 2
  • Protein SSUH2 Homolog 3
  • Fls485 3
  • SSU-2 3

External Ids for SSUH2 Gene

Previous HGNC Symbols for SSUH2 Gene

  • C3orf32

Summaries for SSUH2 Gene

GeneCards Summary for SSUH2 Gene

SSUH2 (Ssu-2 Homolog (C. Elegans)) is a Protein Coding gene. GO annotations related to this gene include unfolded protein binding and heat shock protein binding.

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SSUH2 Gene

Genomics for SSUH2 Gene

Regulatory Elements for SSUH2 Gene

Enhancers for SSUH2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03G008679 0.7 ENCODE 5.4 +65.2 65235 0.9 ELF3 SOX13 DRAP1 ZNF792 HMG20A RARA KAT8 FOSL1 ARID1B MIER3 CAV3 SSUH2 OR7E122P PIR52972 GC03P008648
GH03G008739 1.7 FANTOM5 Ensembl ENCODE dbSUPER 0.7 +3.7 3681 3.6 ARID4B ZNF2 GLIS2 FOS SP3 SP5 REST SREBF1 MBD2 SMARCA4 OXTR CAV3 SSUH2
GH03G008732 1.1 Ensembl ENCODE dbSUPER 0.4 +9.7 9723 5.1 PKNOX1 ZMYM3 MAFG ZNF316 ZKSCAN8 FOS MAFK EMSY EGR2 CAV3 SSUH2
GH03G008756 0.8 ENCODE dbSUPER 0.4 -12.8 -12804 2.9 FOSL1 CTCF POLR2A IKZF1 BHLHE40 IKZF2 CAV3 OXTR SSUH2
GH03G008755 0.8 ENCODE dbSUPER 0.4 -10.8 -10770 0.2 CTCF ZNF316 MAFG ZNF16 RAD21 ZBTB7B CAV3 SSUH2 OXTR
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SSUH2 on UCSC Golden Path with GeneCards custom track

Genomic Location for SSUH2 Gene

Chromosome:
3
Start:
8,590,122 bp from pter
End:
8,745,040 bp from pter
Size:
154,919 bases
Orientation:
Minus strand

Genomic View for SSUH2 Gene

Genes around SSUH2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SSUH2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SSUH2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SSUH2 Gene

Proteins for SSUH2 Gene

  • Protein details for SSUH2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2M2-SSUH2_HUMAN
    Recommended name:
    Protein SSUH2 homolog
    Protein Accession:
    Q9Y2M2
    Secondary Accessions:
    • A6NFA9
    • B3KS84
    • B7Z6E3
    • F5H2S5
    • Q7Z7K4

    Protein attributes for SSUH2 Gene

    Size:
    353 amino acids
    Molecular mass:
    39845 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH52614.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for SSUH2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SSUH2 Gene

Post-translational modifications for SSUH2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SSUH2 Gene

Domains & Families for SSUH2 Gene

Protein Domains for SSUH2 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SSUH2: view

No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for SSUH2 Gene

Function for SSUH2 Gene

Molecular function for SSUH2 Gene

UniProtKB/Swiss-Prot Induction:
Induced during epithelial differentiation.
genes like me logo Genes that share phenotypes with SSUH2: view

Animal Model Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SSUH2 Gene

Localization for SSUH2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SSUH2 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SSUH2 gene
Compartment Confidence
nucleus 5
mitochondrion 2
golgi apparatus 2
peroxisome 1
cytosol 1

Gene Ontology (GO) - Cellular Components for SSUH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 27680507
GO:0005737 cytoplasm IDA 20205943
genes like me logo Genes that share ontologies with SSUH2: view

Pathways & Interactions for SSUH2 Gene

SuperPathways for SSUH2 Gene

No Data Available

Interacting Proteins for SSUH2 Gene

Selected Interacting proteins: Q9Y2M2-SSUH2_HUMAN for SSUH2 Gene via MINT IID

Symbol External ID(s) Details
CDC5L

Gene Ontology (GO) - Biological Process for SSUH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042476 odontogenesis IMP 27680507
genes like me logo Genes that share ontologies with SSUH2: view

No data available for Pathways by source and SIGNOR curated interactions for SSUH2 Gene

Drugs & Compounds for SSUH2 Gene

No Compound Related Data Available

Transcripts for SSUH2 Gene

Unigene Clusters for SSUH2 Gene

Ssu-2 homolog (C. elegans):
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SSUH2 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b · 16c ·
SP1: - - - - - - - -
SP2: - - - - -
SP3: - - - - - - - - - -
SP4: - - - - - - - - -
SP5:
SP6: - - - -
SP7:
SP8:

ExUns: 16d
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for SSUH2 Gene

GeneLoc Exon Structure for
SSUH2
ECgene alternative splicing isoforms for
SSUH2

Expression for SSUH2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SSUH2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SSUH2 Gene

This gene is overexpressed in Testis (x16.9) and Small Intestine - Terminal Ileum (x6.2).

Protein differential expression in normal tissues from HIPED for SSUH2 Gene

This gene is overexpressed in NK cells (42.8) and CD4 Tcells (24.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SSUH2 Gene



Protein tissue co-expression partners for SSUH2 Gene

NURSA nuclear receptor signaling pathways regulating expression of SSUH2 Gene:

SSUH2

SOURCE GeneReport for Unigene cluster for SSUH2 Gene:

Hs.740735

mRNA Expression by UniProt/SwissProt for SSUH2 Gene:

Q9Y2M2-SSUH2_HUMAN
Tissue specificity: Expressed in enterocytes of small and large intestinal mucosa (at protein level). Expressed in enterocytes, chromaffine and interstitial cells.

Evidence on tissue expression from TISSUES for SSUH2 Gene

  • Liver(4)
genes like me logo Genes that share expression patterns with SSUH2: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SSUH2 Gene

Orthologs for SSUH2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SSUH2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SSUH2 34 35
  • 94.46 (n)
dog
(Canis familiaris)
Mammalia SSUH2 34 35
  • 88.36 (n)
cow
(Bos Taurus)
Mammalia SSUH2 35
  • 86 (a)
OneToOne
C22H3orf32 34
  • 83.82 (n)
rat
(Rattus norvegicus)
Mammalia Ssuh2 34
  • 82.09 (n)
mouse
(Mus musculus)
Mammalia Ssu2 34 16 35
  • 81.65 (n)
oppossum
(Monodelphis domestica)
Mammalia SSUH2 35
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SSUH2 35
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SSUH2 35
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ssuh2 34
  • 48.81 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC101882914 34
  • 52.85 (n)
SSUH2 35
  • 48 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ssu-2 35
  • 22 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 27 (a)
OneToOne
Species where no ortholog for SSUH2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SSUH2 Gene

ENSEMBL:
Gene Tree for SSUH2 (if available)
TreeFam:
Gene Tree for SSUH2 (if available)

Paralogs for SSUH2 Gene

No data available for Paralogs for SSUH2 Gene

Variants for SSUH2 Gene

Sequence variations from dbSNP and Humsavar for SSUH2 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1008642 Pathogenic 8,733,975(+) ATTAA(C/G/T)GAGGA intron-variant, reference, synonymous-codon
rs104893713 Pathogenic 8,745,834(+) TGCAG(C/G)AGCAT upstream-variant-2KB, reference, missense
rs104893715 Pathogenic 8,745,664(+) CACTG(A/G)CCCTG upstream-variant-2KB, reference, missense
rs116840773 Pathogenic 8,745,548(+) GATCG(A/C/T)AGAGC upstream-variant-2KB, reference, missense
rs116840776 Pathogenic 8,745,627(+) TGGTG(C/G)TACCG upstream-variant-2KB, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for SSUH2 Gene

Variant ID Type Subtype PubMed ID
esv2675503 CNV deletion 23128226
esv3568603 CNV loss 25503493
esv3595220 CNV gain 21293372
esv3595221 CNV loss 21293372
esv3595222 CNV gain 21293372
esv3893661 CNV loss 25118596
nsv1011096 CNV loss 25217958
nsv519414 CNV loss 19592680
nsv528575 CNV loss 19592680

Variation tolerance for SSUH2 Gene

Residual Variation Intolerance Score: 81.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.95; 59.73% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SSUH2 Gene

Human Gene Mutation Database (HGMD)
SSUH2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SSUH2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SSUH2 Gene

Disorders for SSUH2 Gene

Relevant External Links for SSUH2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SSUH2

No disorders were found for SSUH2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SSUH2 Gene

Publications for SSUH2 Gene

  1. Small intestinal mucosa expression of putative chaperone fls485. (PMID: 20205943) Reinartz A. … Gassler N. (BMC Gastroenterol. 2010) 2 3 4 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. Mutation in SSUH2 Causes Autosomal-Dominant Dentin Dysplasia Type I. (PMID: 27680507) Xiong F. … Xu X. (Hum. Mutat. 2017) 3 64
  5. Direct interaction between hnRNP-M and CDC5L/PLRG1 proteins affects alternative splice site choice. (PMID: 20467437) LlA"res D. … Lamond A.I. (EMBO Rep. 2010) 3 64

Products for SSUH2 Gene

Sources for SSUH2 Gene

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