Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55209
Gene name Gene Name - the full gene name approved by the HGNC.
SET domain containing 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SETD5
Synonyms (NCBI Gene) Gene synonyms aliases
MRD23, SETD5A
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p25.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
615743 25566 ENSG00000168137
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Intellectual Disability-Facial Dysmorphism Syndrome intellectual disability-facial dysmorphism syndrome due to setd5 haploinsufficiency rs1553625836, rs1559427364, rs2045779618, rs1553635477, rs1575421295, rs587777328, rs1553641476, rs1575467723, rs864321657, rs1553625691, rs1575453353, rs1553618323, rs1218918142, rs1575466399, rs886039432
View all (17 more)
N/A
Mental retardation intellectual disability rs587777326, rs886041593 N/A
Polymicrogyria polymicrogyria rs1575508937 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Microcephaly microcephaly N/A N/A ClinVar
Neurodevelopmental Disorders syndromic complex neurodevelopmental disorder N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Autistic Disorder Associate 24680889, 24768552, 30190612, 34368859
Breast Neoplasms Associate 35063407
Carcinoma Hepatocellular Associate 40234915
Carcinoma Non Small Cell Lung Associate 31345185
Chromosome 3 trisomy 3p25 Associate 25138099
Cognition Disorders Associate 30190612
Colorectal Neoplasms Associate 37963940
Craniosynostoses Associate 24680889
Developmental Disabilities Associate 31474762
Facial Dysmorphism with Multiple Malformations Associate 25138099