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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. Diseases associated with SSUH2 include Dentin Dysplasia, Type I and Dentin Dysplasia. Gene Ontology (GO) annotations related to this gene include unfolded protein binding and heat shock protein binding.

UniProtKB/Swiss-Prot for SSUH2 Gene

  • Plays a role in odontogenesis.

Additional gene information for SSUH2 Gene

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

Genomics for SSUH2 Gene

GeneHancer (GH) Regulatory Elements for SSUH2 Gene

Promoters and enhancers for SSUH2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I008646 Promoter/Enhancer 1.6 EPDnew ENCODE dbSUPER 550.2 +94.8 94755 7.7 FOXA2 MLX ARID4B DMAP1 ZNF48 ETS1 SLC30A9 SP5 NFYC MXD4 GC03P008648 SSUH2 PIR52972
GH03I008644 Promoter 0.5 EPDnew 550.1 +100.2 100222 0.1 SSUH2 GC03P008648 LMCD1-AS1
GH03I008679 Enhancer 0.6 ENCODE 5.4 +65.2 65235 0.9 DRAP1 ELF3 SOX13 ZNF792 HMG20A RARA KAT8 NFIL3 FOSL1 MIER3 CAV3 OR7E122P SSUH2 PIR52972 GC03P008648
GH03I008739 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 0.8 +3.7 3681 3.6 FOXA2 ARID4B ZNF2 GLIS2 E2F8 FOS SP3 SP5 REST SMARCA4 SETD5 RAD18 THUMPD3-AS1 OXTR CAV3 SSUH2
GH03I008768 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 0.3 -24.3 -24321 2.1 RB1 ARID4B SIN3A BATF ZNF2 ZBTB7B ZNF48 RAD21 RFX5 ZNF335 OXTR SSUH2 CAV3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SSUH2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for SSUH2 Gene

Genomic Locations for SSUH2 Gene
154,919 bases
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:
    Recommended name:
    Protein SSUH2 homolog
    Protein Accession:
    Secondary Accessions:
    • A6NFA9
    • B3KS84
    • B7Z6E3
    • F5H2S5
    • Q7Z7K4

    Protein attributes for SSUH2 Gene

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

    Alternative splice isoforms for SSUH2 Gene


neXtProt entry for SSUH2 Gene

Post-translational modifications for SSUH2 Gene

No Post-translational modifications

No data available for DME Specific Peptides for SSUH2 Gene

Domains & Families for SSUH2 Gene

Gene Families for SSUH2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for SSUH2 Gene


Graphical View of Domain Structure for InterPro Entry

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

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

Function for SSUH2 Gene

Molecular function for SSUH2 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in odontogenesis.

Phenotypes From GWAS Catalog for SSUH2 Gene

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

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. Nucleus.

Subcellular locations from

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 IEA,IDA 20205943
genes like me logo Genes that share ontologies with SSUH2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SSUH2 Gene

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 IID MINT

Symbol External ID(s) Details

Gene Ontology (GO) - Biological Process for SSUH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042476 odontogenesis IMP,IEA 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:

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: - - - - - - - - -
SP6: - - - -

ExUns: 16d

Relevant External Links for SSUH2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

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:


SOURCE GeneReport for Unigene cluster for SSUH2 Gene:


mRNA Expression by UniProt/SwissProt for SSUH2 Gene:

Tissue specificity: Expressed in enterocytes of small and large intestinal mucosa (at protein level). Expressed in chromaffine and interstitial cells. Expressed in peripheral blood and gingival cells (PubMed:27680507).

Evidence on tissue expression from TISSUES for SSUH2 Gene

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

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
(Pan troglodytes)
Mammalia SSUH2 33 34
  • 94.46 (n)
(Canis familiaris)
Mammalia SSUH2 33 34
  • 88.36 (n)
(Bos Taurus)
Mammalia SSUH2 34
  • 86 (a)
C22H3orf32 33
  • 83.82 (n)
(Rattus norvegicus)
Mammalia Ssuh2 33
  • 82.09 (n)
(Mus musculus)
Mammalia Ssu2 33 16 34
  • 81.65 (n)
(Monodelphis domestica)
Mammalia SSUH2 34
  • 74 (a)
(Ornithorhynchus anatinus)
Mammalia SSUH2 34
  • 68 (a)
(Anolis carolinensis)
Reptilia SSUH2 34
  • 63 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ssuh2 33
  • 48.81 (n)
(Danio rerio)
Actinopterygii LOC101882914 33
  • 52.85 (n)
SSUH2 34
  • 48 (a)
(Caenorhabditis elegans)
Secernentea ssu-2 34
  • 22 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 27 (a)
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

Gene Tree for SSUH2 (if available)
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 Variation AA Info Type
rs1008642 uncertain-significance, pathogenic, not-provided, conflicting-interpretations-of-pathogenicity, benign, likely-benign, Long QT syndrome, Distal myopathy, Tateyama type, not provided, not specified, Cardiovascular phenotype, Limb-Girdle Muscular Dystrophy, Dominant, Romano-Ward syndrome, Hypertrophic cardiomyopathy, Caveolinopathy, Limb-girdle muscular dystrophy, type 1C 8,733,975(-) C/A/G/T genic_upstream_transcript_variant, intron_variant
rs104893713 pathogenic, not-provided, Long QT syndrome 9, not provided 8,745,834(-) C/G upstream_transcript_variant
rs104893714 risk-factor, not-provided, Long QT syndrome 9, acquired, susceptibility to, not provided 8,745,701(-) T/G upstream_transcript_variant
rs104893715 pathogenic, not-provided, Long QT syndrome 9, not provided 8,745,664(-) G/A upstream_transcript_variant
rs1049031652 uncertain-significance, Romano-Ward syndrome, Caveolinopathy, Hypertrophic cardiomyopathy, Long QT syndrome, Limb-Girdle Muscular Dystrophy, Dominant 8,746,300(-) C/T upstream_transcript_variant

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

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

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)

Additional Variant Information for SSUH2 Gene

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

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

Disorders for SSUH2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SSUH2 Gene - From: HGMD, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
dentin dysplasia, type i
  • dtdp1
dentin dysplasia
  • dd
- elite association - COSMIC cancer census association via MalaCards
Search SSUH2 in MalaCards View complete list of genes associated with diseases


  • Note=Defects in SSUH2 are associated with dentin dysplasia, a genetic disorder characterized by severe tooth hypermobility, short dental roots, and obliterated pulp chambers. {ECO:0000269 PubMed:27680507}.

Additional Disease Information for SSUH2

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

No data available for Genatlas for SSUH2 Gene

Publications for SSUH2 Gene

  1. Mutation in SSUH2 Causes Autosomal-Dominant Dentin Dysplasia Type I. (PMID: 27680507) Xiong F … Xu X (Human mutation 2017) 2 3 4 58
  2. Small intestinal mucosa expression of putative chaperone fls485. (PMID: 20205943) Reinartz A … Gassler N (BMC gastroenterology 2010) 2 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Direct interaction between hnRNP-M and CDC5L/PLRG1 proteins affects alternative splice site choice. (PMID: 20467437) Llères D … Lamond AI (EMBO reports 2010) 3 58

Products for SSUH2 Gene

Sources for SSUH2 Gene

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