SETD5 - SET domain containing 5 Gene

Also Known as MRD23; SETD5A

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55209

About SETD5

Cytogenetic location: 3p25.3 Genomic coordinates (GRCh38): 3:9,397,615-9,478,154 (from NCBI)

This gene has 44 transcripts (splice variants), 214 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 9.1), thyroid (RPKM 9.1) and 25 other tissues.

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 disability. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2017]

SETD5 Products (3)

mRNA	Protein	Name
NM_001080517.3	NP_001073986.1	histone-lysine N-methyltransferase SETD5 isoform 1
NM_001292043.2	NP_001278972.1	histone-lysine N-methyltransferase SETD5 isoform 2
NM_001349451.2	NP_001336380.1	histone-lysine N-methyltransferase SETD5 isoform 2

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SETD5 Protein Structure

SET

0
300
600
900
1200
1442 a.a.

Protein Preferred Names	Protein Names
histone-lysine N-methyltransferase SETD5	SET domain-containing protein 5

Related Diseases

Diseases	Alias
Intellectual Developmental Disorder, Autosomal Dominant 23	MRD23 Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency Mental Retardation, Autosomal Dominant 23 Autosomal Dominant Non-Syndromic Intellectual Disability 23 Autosomal Dominant Intellectual Developmental Disorder 23 Autosomal Dominant Mental Retardation 23 Mental Retardation, Autosomal Dominant, Type 23
Cleft Lip	Cheiloschisis Labium Leporinum Cleft Lip, Unilateral, Complete Complete Unilateral Cleft Lip Hare Lip Congenital Fissure Of Lip Isolated Cleft Lip Cleft Lip Without Cleft Palate Cleft Lip Without Cleft Palate, Unilateral Isolated Cleft Lip, Unilateral Cleft Lip Without Cleft Palate, Bilateral Isolated Cleft Lip, Bilateral
Kbg Syndrome	KBGS Macrodontia, Mental Retardation, Characteristic Facies, Short Stature, And Skeletal Anomalies Short Stature, Characteristic Facies, Macrodontia, Intellectual Disability, And Skeletal Anomalies Short Stature, Characteristic Facies, Macrodontia, Mental Retardation, And Skeletal Anomalies Short Stature-Characteristic Facies-Mental Retardation-Macrodontia-Skeletal Anomalies Syndrome Short Stature-Facial And Skeletal Anomalies-Intellectual Disability-Macrodontia Syndrome
Cleft Palate, Isolated	Cleft Palate Isolated Cleft Palate CPI Cp Palatoschisis Cleft Palate Isolated Uranostaphyloschisis Congenital Fissure Of Palate Cleft Of Secondary Palate
Nk-Cell Enteropathy
Polymicrogyria	Pmg
Heart Disease	Heart Failure Congenital Heart Disease Heart Diseases Congenital Heart Defects Congenital Heart Defect Heart Malformation Congenital Anomaly Of Heart Heart Defect Heart-Congenital Defect Congenital Heart Disorder Heart Defects Congenital Heart Defects, Congenital Heart Defects Heart Disease, Congenital Disease, Heart, Congenital Congestive Heart Failure
Autism Spectrum Disorder	Asd Autism Spectrum Disorders Autistic Continuum Pervasive Developmental Disorder Pervasive Development Disorder Autistic Behavior Autistic Disorder Autistic Autistic Disorder Of Childhood Onset Infantile Autism Childhood Autism Kanner Syndrome Pervasive Developmental Delay Nos Pervasive Developmental Disorder, Not Otherwise Specified
Chromosome 3pter-P25 Deletion Syndrome	3p- Syndrome 3p Deletion Syndrome Distal Monosomy 3p Chromosome 3, Monosomy 3p 3p Partial Monosomy Syndrome Chromosome 3, Deletion 3p Chromosome 3p Deletion Syndrome Del Syndrome Deletion 3p Monosomy 3p Partial Monosomy 3p Distal 3p Deletion Monosomy 3pter Telomeric Monosomy 3p Chromosome Deletion Syndrome 3pter-P25
Cerebellar Angioblastoma	Hemangioblastoma Of Cerebellum Cerebellar Hemangioblastoma
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Intellectual Developmental Disorder, Autosomal Dominant 21	MRD21 Mental Retardation, Autosomal Dominant 21 Autosomal Dominant Non-Syndromic Intellectual Disability 21 Autosomal Dominant Intellectual Developmental Disorder 21 Autosomal Dominant Mental Retardation 21 Ctcf-Related Neurodevelopmental Disorder Mental Retardation, Autosomal Dominant, Type 21
Developmental And Epileptic Encephalopathy 27	DEE27 Epileptic Encephalopathy, Early Infantile, 27 Eiee27 Developmental And Epileptic Encephalopathy, 27 Early Infantile Epileptic Encephalopathy 27 Encephalopathy, Developmental And Epileptic, Type 27
Intellectual Developmental Disorder, Autosomal Dominant 43	MRD43 Autosomal Dominant Non-Syndromic Intellectual Disability 43 Autosomal Dominant Intellectual Developmental Disorder 43 Autosomal Dominant Mental Retardation 43
Macular Dystrophy, Patterned, 2	Patterned Macular Dystrophy 2 MDPT2 Macular Dystrophy, Butterfly-Shaped Pigmentary, 2 Butterfly-Shaped Pigmentary Maculary Dystrophy 2
Autosomal Dominant Intellectual Developmental Disorder	Autosomal Dominant Mental Retardation Autosomal Dominant Non-Syndromic Mental Retardation Autosomal Dominant Non-Syndromic Intellectual Disability Mental Retardation, Autosomal Dominant
Cornelia De Lange Syndrome	De Lange Syndrome Brachmann De Lange Syndrome Brachmann-De Lange Syndrome Cdls Bdls Typus Degenerativus Amstelodamensis
Sotos Syndrome	Cerebral Gigantism SOTOS Chromosome 5q35 Deletion Syndrome Sotos Syndrome 1, Formerly Sotos1, Formerly Distinctive Facial Appearance, Overgrowth In Childhood, And Learning Disabilities Or Delayed Development Sotos Sequence Sotos' Syndrome Sotos1 Sotos Syndrome 1
West Syndrome	Infantile Spasms Infantile Spasms Syndrome Infantile Spasm X-Linked Infantile Spasm Syndrome X-Linked Infantile Spasms Epileptic Encephalopathy, Early Infantile, 1 Is Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg West'S Syndrome Spasms, Infantile Is -[Infantile Spasm] Salaam Spasm Salaam Tic

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12745	SETD5 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	SETD5	VGNC	VGNC:65044
Rattus norvegicus	SETD5	RGD	RGD:1310433
Bos taurus	SETD5	VGNC	VGNC:52826
Macaca mulatta	SETD5	VGNC	VGNC:77309
Mus musculus	SETD5	MGD	MGI:1920145
Canis familiaris	SETD5	VGNC	VGNC:54993
Others	SETD5	NCBI