2. Gene
  3. SETD5 - SET domain containing 5 Gene

SETD5 - SET domain containing 5 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as MRD23; SETD5A

Gene ID: 55209 | Gene type: protein coding

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

SETD5 Protein Structure

SET

SET: SET domain (286 - 387)

  • 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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS12745 SETD5 Human Pre-designed siRNA Set A / 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