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Aliases for SETD5 Gene

Aliases for SETD5 Gene

  • SET Domain Containing 5 2 3 5
  • KIAA1757 4

External Ids for SETD5 Gene

Previous GeneCards Identifiers for SETD5 Gene

  • GC03P009414
  • GC03P009439
  • GC03P009376

Summaries for SETD5 Gene

Entrez Gene Summary for SETD5 Gene

  • This function of this gene has yet to be determined but mutations in this gene have been associated with autosomal dominant mental retardation-23. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2014]

GeneCards Summary for SETD5 Gene

SETD5 (SET Domain Containing 5) is a Protein Coding gene. Diseases associated with SETD5 include Mental Retardation, Autosomal Dominant 23 and Coffin-Siris Syndrome. Among its related pathways are PKMTs methylate histone lysines. An important paralog of this gene is KMT2E.

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SETD5 Gene

Genomics for SETD5 Gene

Regulatory Elements for SETD5 Gene

Enhancers for SETD5 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
GH03G009362 1.2 ENCODE 12 -34.4 -34413 2.2 MLX CREB3L1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC RAD18 THUMPD3-AS1 SRGAP3 FANCD2 LINC00852 THUMPD3 GHRLOS SETD5 PRRT3-AS1 ENSG00000254485
GH03G009409 1.6 FANTOM5 Ensembl ENCODE dbSUPER 4.9 +12.8 12771 1.7 HDAC1 ATF1 ARNT PAF1 ZNF362 CEBPB ZEB2 ZNF592 RAD51 SMARCA4 SRGAP3 SETD5 THUMPD3-AS1 MTMR14 GC03P009403 GC03M009409
GH03G009391 0.5 dbSUPER 0.7 -5.0 -4957 2.1 PAF1 ZNF316 POLR2A BCL6B BCL6 THUMPD3-AS1 SETD5 ENSG00000254485
GH03G009383 0.8 dbSUPER 0.4 -11.3 -11278 5.0 FOXA2 RARA SCRT2 BCLAF1 PAF1 ZNF362 SMAD5 POLR2H NFIC MYNN THUMPD3 THUMPD3-AS1 SRGAP3 ENSG00000254485 SETD5
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SETD5 on UCSC Golden Path with GeneCards custom track

Promoters for SETD5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000148275 385 4801 MLX CREB3L1 AGO1 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF263 SP3

Genomic Location for SETD5 Gene

9,397,615 bp from pter
9,479,240 bp from pter
81,626 bases
Plus strand

Genomic View for SETD5 Gene

Genes around SETD5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SETD5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SETD5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SETD5 Gene

Proteins for SETD5 Gene

  • Protein details for SETD5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    SET domain-containing protein 5
    Protein Accession:
    Secondary Accessions:
    • Q6AI17
    • Q8WUB6
    • Q9H3X4
    • Q9H6V7
    • Q9H7S3
    • Q9NVI9

    Protein attributes for SETD5 Gene

    1442 amino acids
    Molecular mass:
    157515 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAH20956.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA91762.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB14903.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB15144.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB21848.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for SETD5 Gene


neXtProt entry for SETD5 Gene

Post-translational modifications for SETD5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SETD5 Gene

Domains & Families for SETD5 Gene

Gene Families for SETD5 Gene

Protein Domains for SETD5 Gene


Suggested Antigen Peptide Sequences for SETD5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SETD5: view

No data available for UniProtKB/Swiss-Prot for SETD5 Gene

Function for SETD5 Gene

genes like me logo Genes that share phenotypes with SETD5: view

Human Phenotype Ontology for SETD5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SETD5 Gene

MGI Knock Outs for SETD5:

Animal Model Products

CRISPR Products

miRNA for SETD5 Gene

miRTarBase miRNAs that target SETD5

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for SETD5 Gene

Localization for SETD5 Gene

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 SETD5 gene
Compartment Confidence
nucleus 4
cytosol 3

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for SETD5 Gene

Pathways & Interactions for SETD5 Gene

SuperPathways for SETD5 Gene

SuperPathway Contained pathways
1 PKMTs methylate histone lysines
genes like me logo Genes that share pathways with SETD5: view

Pathways by source for SETD5 Gene

1 BioSystems pathway for SETD5 Gene

Gene Ontology (GO) - Biological Process for SETD5 Gene


No data available for SIGNOR curated interactions for SETD5 Gene

Drugs & Compounds for SETD5 Gene

No Compound Related Data Available

Transcripts for SETD5 Gene

Unigene Clusters for SETD5 Gene

SET domain containing 5:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for SETD5 Gene

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

ExUns: 17 ^ 18 ^ 19a · 19b · 19c · 19d ^ 20 ^ 21 ^ 22 ^ 23 ^ 24a · 24b · 24c ^ 25a · 25b ^ 26a · 26b ^ 27
SP1: - - - -
SP2: - - - -
SP5: -
SP9: -
SP10: -
SP11: - -
SP13: -

Relevant External Links for SETD5 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SETD5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SETD5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SETD5 Gene

This gene is overexpressed in Cervix (39.4) and Breast (29.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SETD5 Gene

Protein tissue co-expression partners for SETD5 Gene

NURSA nuclear receptor signaling pathways regulating expression of SETD5 Gene:


SOURCE GeneReport for Unigene cluster for SETD5 Gene:


Evidence on tissue expression from TISSUES for SETD5 Gene

  • Nervous system(4)
  • Lung(3.1)
  • Eye(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SETD5 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • chin
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • salivary gland
  • skull
  • tooth
  • lung
  • rib
  • rib cage
  • pelvis
  • penis
  • testicle
  • urethra
  • hair
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with SETD5: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SETD5 Gene

Orthologs for SETD5 Gene

This gene was present in the common ancestor of animals.

Orthologs for SETD5 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia SETD5 34 35
  • 98.75 (n)
(Bos Taurus)
Mammalia SETD5 34 35
  • 94.42 (n)
(Canis familiaris)
Mammalia SETD5 34 35
  • 94.29 (n)
(Rattus norvegicus)
Mammalia Setd5 34
  • 92.13 (n)
(Mus musculus)
Mammalia Setd5 34 16 35
  • 91.97 (n)
(Monodelphis domestica)
Mammalia SETD5 35
  • 77 (a)
(Ornithorhynchus anatinus)
Mammalia SETD5 35
  • 70 (a)
(Gallus gallus)
Aves SETD5 34 35
  • 73.16 (n)
(Anolis carolinensis)
Reptilia SETD5 35
  • 64 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia setd5 34
  • 65.29 (n)
Str.11463 34
(Danio rerio)
Actinopterygii setd5 34 35
  • 58.9 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG9007 35
  • 4 (a)
(Caenorhabditis elegans)
Secernentea set-24 35
  • 19 (a)
Y73B3A.1 35
  • 12 (a)
set-26 35
  • 7 (a)
set-9 35
  • 7 (a)
Species where no ortholog for SETD5 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)
  • 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)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 SETD5 Gene

Gene Tree for SETD5 (if available)
Gene Tree for SETD5 (if available)

Paralogs for SETD5 Gene

Paralogs for SETD5 Gene

genes like me logo Genes that share paralogs with SETD5: view

Variants for SETD5 Gene

Sequence variations from dbSNP and Humsavar for SETD5 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs587777325 Pathogenic 9,445,055(+) ATTAT(A/T)AAGTG nc-transcript-variant, reference, stop-gained
rs587777326 Pathogenic 9,448,461(+) TATCA(-/CA)ACGGA nc-transcript-variant, reference, frameshift-variant
rs587777327 Pathogenic 9,470,735(+) TGTAT(C/T)GAGGA nc-transcript-variant, reference, stop-gained
rs587777328 Pathogenic 9,475,533(+) AGCAG(-/G)AGTTC nc-transcript-variant, downstream-variant-500B, reference, frameshift-variant
rs587777329 Pathogenic 9,475,618(+) CCCCC(-/T)CTCAC nc-transcript-variant, downstream-variant-500B, reference, frameshift-variant

Structural Variations from Database of Genomic Variants (DGV) for SETD5 Gene

Variant ID Type Subtype PubMed ID
dgv277n21 CNV loss 19592680
esv2675276 CNV deletion 23128226
esv3595237 CNV loss 21293372
nsv237037 CNV deletion 16902084
nsv3692 CNV insertion 18451855
nsv527954 CNV loss 19592680
nsv821981 CNV loss 20364138

Variation tolerance for SETD5 Gene

Residual Variation Intolerance Score: 3.71% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.59; 65.26% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SETD5 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 SETD5 Gene

Disorders for SETD5 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SETD5 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, autosomal dominant 23
  • mrd23
coffin-siris syndrome
  • dwarfism-onychodysplasia
- elite association - COSMIC cancer census association via MalaCards
Search SETD5 in MalaCards View complete list of genes associated with diseases


  • Mental retardation, autosomal dominant 23 (MRD23) [MIM:615761]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD23 patients manifest moderate to severe intellectual disability with additional variable features of brachycephaly, a low hairline, depressed nasal bridge, prominent high nasal root, tubular nose, upslanting palpebral fissures, long and smooth philtrum, micrognathia, thin upper lip, and crowded teeth. Behavioral problems, including obsessive-compulsive disorder, hand flapping with ritualized behavior, and autism, are prominent features. {ECO:0000269 PubMed:24680889}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SETD5

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with SETD5: view

No data available for Genatlas for SETD5 Gene

Publications for SETD5 Gene

  1. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11214970) Nagase T. … Ohara O. (DNA Res. 2000) 2 3 4 64
  2. De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability. (PMID: 24680889) Grozeva D. … Raymond F.L. (Am. J. Hum. Genet. 2014) 3 4 64
  3. The DNA sequence, annotation and analysis of human chromosome 3. (PMID: 16641997) Muzny D.M. … Gibbs R.A. (Nature 2006) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. 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

Products for SETD5 Gene

Sources for SETD5 Gene

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