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
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MRD23
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:0000791 Component Euchromatin ISS
GO:0005634 Component Nucleus ISS
GO:0005654 Component Nucleoplasm IDA
GO:0016569 Process Covalent chromatin modification ISS
GO:0016593 Component Cdc73/Paf1 complex ISS
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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Atrial septal defect Atrial Septal Defects rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074
View all (25 more)
Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder rs786205019
Autism Autistic Disorder, Autistic behavior rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)
Unknown
Disease term Disease name Evidence References Source
Ptosis Blepharoptosis, Ptosis ClinVar
Neurodevelopmental Disorders syndromic complex neurodevelopmental disorder GenCC
Diabetes Diabetes GWAS
Metabolic Syndrome Metabolic Syndrome GWAS
Associations from Text Mining
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