Gene Gene information from NCBI Gene database.
Entrez ID 55209
Gene name SET domain containing 5
Gene symbol SETD5
Synonyms (NCBI Gene)
MRD23SETD5A
Chromosome 3
Chromosome location 3p25.3
Summary This function of this gene has yet to be determined but based on sequence similarity to other SET domain proteins it may function as a histone methyltransferase. Mutations in this gene have been associated with an autosomal dominant form of intellectual d
SNPs SNP information provided by dbSNP.
62
SNP ID Visualize variation Clinical significance Consequence
rs587777325 A>G,T Pathogenic Missense variant, coding sequence variant, non coding transcript variant, stop gained
rs587777326 CA>- Pathogenic Coding sequence variant, non coding transcript variant, frameshift variant
rs587777328 ->G Pathogenic Coding sequence variant, non coding transcript variant, frameshift variant, downstream transcript variant, genic downstream transcript variant
rs587777329 T>- Pathogenic, uncertain-significance Coding sequence variant, non coding transcript variant, frameshift variant, downstream transcript variant, genic downstream transcript variant
rs751539788 C>G,T Pathogenic Non coding transcript variant, coding sequence variant, stop gained, missense variant
miRNA miRNA information provided by mirtarbase database.
795
miRTarBase ID miRNA Experiments Reference
MIRT029866 hsa-miR-26b-5p Microarray 19088304
MIRT052323 hsa-let-7b-5p CLASH 23622248
MIRT051240 hsa-miR-16-5p CLASH 23622248
MIRT037023 hsa-miR-877-3p CLASH 23622248
MIRT622312 hsa-miR-548c-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
34
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IEA
GO:0000785 Component Chromatin ISS
GO:0000791 Component Euchromatin IEA
GO:0000791 Component Euchromatin ISS
GO:0003714 Function Transcription corepressor activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615743 25566 ENSG00000168137
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9C0A6
Protein name Histone-lysine N-methyltransferase SETD5 (EC 2.1.1.359) (EC 2.1.1.367) (SET domain-containing protein 5)
Protein function Chromatin regulator required for brain development: acts as a regulator of RNA elongation rate, thereby regulating neural stem cell (NSC) proliferation and synaptic transmission. May act by mediating trimethylation of 'Lys-36' of histone H3 (H3K
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00856 SET 284 390 SET domain Family
Sequence
MSIAIPLGVTTSDTSYSDMAAGSDPESVEASPAVNEKSVYSTHNYGTTQRHGCRGLPYAT
IIPRSDLNGLPSPVEERCGDSPNSEGETVPTWCPCGLSQDGFLLNCDKCRGMSRGKVIRL
HRRKQDNISGGDSSATESWDEELSPSTVLYTATQHTPTSITLTVRRTKPKKRKKSPEKGR
AAPKTKKIKNSPSEAQNLDENTTEGWENRIRLWTDQYEEAFTNQYSADVQNALEQHLHSS
KEFVGKPTILDTINKTELACNNTVIGSQMQLQLGRVTRVQKHRKILRAARDLALDTLIIE
YRGKVMLRQQFEVNGHFFKKPYPFVLFYSKFNGVEMCVDARTFGNDARFIRRSCTPNAEV
RHMIADGMIHLCIYAVSAITKDAEVTIAFD
YEYSNCNYKVDCACHKGNRNCPIQKRNPNA
TELPLLPPPPSLPTIGAETRRRKARRKELEMEQQNEASEENNDQQSQEVPEKVTVSSDHE
EVDNPEEKPEEEKEEVIDDQENLAHSRRTREDRKVEAIMHAFENLEKRKKRRDQPLEQSN
SDVEITTTTSETPVGEETKTEAPESEVSNSVSNVTIPSTPQSVGVNTRRSSQAGDIAAEK
LVPKPPPAKPSRPRPKSRISRYRTSSAQRLKRQKQANAQQAELSQAALEEGGSNSLVTPT
EAGSLDSSGENRPLTGSDPTVVSITGSHVNRAASKYPKTKKYLVTEWLNDKAEKQECPVE
CPLRITTDPTVLATTLNMLPGLIHSPLICTTPKHYIRFGSPFIPERRRRPLLPDGTFSSC
KKRWIKQALEEGMTQTSSVPQETRTQHLYQSNENSSSSSICKDNADLLSPLKKWKSRYLM
EQNVTKLLRPLSPVTPPPPNSGSKSPQLATPGSSHPGEEECRNGYSLMFSPVTSLTTASR
CNTPLQFELCHRKDLDLAKVGYLDSNTNSCADRPSLLNSGHSDLAPHPSLGPTSETGFPS
RSGDGHQTLVRNSDQAFRTEFNLMYAYSPLNAMPRADGLYRGSPLVGDRKPLHLDGGYCS
PAEGFSSRYEHGLMKDLSRGSLSPGGERACEGVPSAPQNPPQRKKVSLLEYRKRKQEAKE
NSAGGGGDSAQSKSKSAGAGQGSSNSVSDTGAHGVQGSSARTPSSPHKKFSPSHSSMSHL
EAVSPSDSRGTSSSHCRPQENISSRWMVPTSVERLREGGSIPKVLRSSVRVAQKGEPSPT
WESNITEKDSDPADGEGPETLSSALSKGATVYSPSRYSYQLLQCDSPRTESQSLLQQSSS
PFRGHPTQSPGYSYRTTALRPGNPPSHGSSESSLSSTSYSSPAHPVSTDSLAPFTGTPGY
FSSQPHSGNSTGSNLPRRSCPSSAASPTLQGPSDSPTSDSVSQSSTGTLSSTSFPQNSRS
SLPSDLRTISLPSAGQSAVYQASRVSAVSNSQHYPHRGSGGVHQYRLQPLQGSGVKTQTG
LS
Sequence length 1442
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
43
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Autism spectrum disorder Likely pathogenic rs2044336029 RCV001257623
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Chromatinopathy Likely pathogenic rs2041379870 RCV001261203
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cleft lip Pathogenic rs2042262374 RCV001261204
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cleft palate Pathogenic rs2042262374 RCV001261204
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
2-3 toe syndactyly Syndactyly Of The Toes HPO_DG
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder HPO_DG
★☆☆☆☆
Found in Text Mining only
Astigmatism Astigmatism HPO_DG
★☆☆☆☆
Found in Text Mining only
Atrial Septal Defects Atrial Septal Defect HPO_DG
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder HPO_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 29484850, 30455454, 30655503
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autistic behavior Autism HPO_DG
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism Pubtator 24680889, 24768552, 30190612, 34368859 Associate
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism HPO_DG
★☆☆☆☆
Found in Text Mining only
Blepharophimosis Blepharophimosis HPO_DG
★☆☆☆☆
Found in Text Mining only