2. Gene
  3. KMT5B - lysine methyltransferase 5B Gene

KMT5B - lysine methyltransferase 5B Gene

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

Also known as CGI85; MRD51; CGI-85; SUV420H1

Gene ID: 51111 | Gene type: protein coding

About KMT5B

Cytogenetic location: 11q13.2 Genomic coordinates (GRCh38): 11:68,154,863-68,213,648 (from NCBI)

This gene has 22 transcripts (splice variants), 230 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 12.1), endometrium (RPKM 8.7) and 25 other tissues.

Summary

This gene encodes a protein that contains a SET domain. SET domains appear to be protein-protein interaction domains that mediate interactions with a family of proteins that display similarity with dual-specificity phosphatases (dsPTPases). The function of this gene has not been determined. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]

KMT5B Products(16)

mRNA Protein Name
NM_001300907.1 NP_001287836.1 histone-lysine N-methyltransferase KMT5B isoform 3
NM_001300908.2 NP_001287837.1 histone-lysine N-methyltransferase KMT5B isoform 4
NM_001300909.2 NP_001287838.1 histone-lysine N-methyltransferase KMT5B isoform 5
NM_001363566.2 NP_001350495.1 histone-lysine N-methyltransferase KMT5B isoform 6
NM_001369424.1 NP_001356353.1 histone-lysine N-methyltransferase KMT5B isoform 7
NM_001369425.1 NP_001356354.1 histone-lysine N-methyltransferase KMT5B isoform 8
NM_001369426.1 NP_001356355.1 histone-lysine N-methyltransferase KMT5B isoform 1
NM_001369427.1 NP_001356356.1 histone-lysine N-methyltransferase KMT5B isoform 2
NM_001369428.1 NP_001356357.1 histone-lysine N-methyltransferase KMT5B isoform 3
NM_001369429.1 NP_001356358.1 histone-lysine N-methyltransferase KMT5B isoform 3
NM_001369430.1 NP_001356359.1 histone-lysine N-methyltransferase KMT5B isoform 3
NM_001369431.1 NP_001356360.1 histone-lysine N-methyltransferase KMT5B isoform 3
NM_001369432.1 NP_001356361.1 histone-lysine N-methyltransferase KMT5B isoform 3
NM_001369433.1 NP_001356362.1 histone-lysine N-methyltransferase KMT5B isoform 3
NM_016028.4 NP_057112.3 histone-lysine N-methyltransferase KMT5B isoform 2
NM_017635.5 NP_060105.3 histone-lysine N-methyltransferase KMT5B isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Reference Source
enables chromatin binding IDA
IDA: Inferred from direct assay
28114273 GOA
enables histone H4K20 methyltransferase activity IDA
IDA: Inferred from direct assay
24396869 GOA
enables histone H4K20 methyltransferase activity IMP
IMP: Inferred from mutant phenotype
28114273 GOA
enables histone methyltransferase activity IDA
IDA: Inferred from direct assay
17707234 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
19074285 GOA
Biological Process GO Annotation Evidence Reference Source
involved in DNA repair IMP
IMP: Inferred from mutant phenotype
28114273 GOA
involved in positive regulation of double-strand break repair via nonhomologous end joining IMP
IMP: Inferred from mutant phenotype
28114273 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

KMT5B Protein Structure

SET

SET: SET domain (239 - 308)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 885 a.a.
Protein Preferred Names Protein Names

histone-lysine N-methyltransferase KMT5B

[histone H4]-N-methyl-L-lysine20 N-methyltransferase KMT5B

Related Diseases

Diseases Alias
Intellectual Developmental Disorder, Autosomal Dominant 51

MRD51

Mental Retardation, Autosomal Dominant 51

Autosomal Dominant Intellectual Developmental Disorder 51

Autosomal Dominant Mental Retardation 51

Mental Retardation, Autosomal Dominant, Type 51
Neural Tube Defects

Spina Bifida

Neural Tube Defect

NTD

Neural Tube Defects, Susceptibility To

Spinal Dysraphism

Spina Bifida, Susceptibility To

Rachischisis

Cleft Spine

Open Spine

Hydrocele Spinalis

Neural Tube Defect Nos

Sb - [Spina Bifida]

Spinal Hernia Nos

Spinal Fissure Nos
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
Syndromic X-Linked Intellectual Disability Nascimento Type

Mental Retardation, X-Linked Syndromic, Nascimento-Type

X-Linked Intellectual Disability-Nail Dystrophy-Seizures Syndrome
Non-Syndromic X-Linked Intellectual Disability 93

Mrx93

X-Linked Mental Retardation With Macrocephaly
Helsmoortel-Van Der Aa Syndrome

HVDAS

Mrd28

Adnp Syndrome

Adnp-Related Syndromic Intellectual Disability-Autism Spectrum Disorder

Mental Retardation, Autosomal Dominant 28

Adnp-Related Multiple Congenital Anomalies - Intellectual Disability - Autism Spectrum Disorder

Mental Retardation, Autosomal Dominant 28, Formerly

Mrd28, Formerly

Autosomal Dominant Mental Retardation 28

Adnp-Related Intellectual Disability And Autism Spectrum Disorder

Adnp-Related Multiple Congenital Anomalies-Intellectual Disability-Autism Spectrum Disorder
Non-Syndromic X-Linked Intellectual Disability 97

Mrx65

Mrx97

Mrxz

X-Linked Mental Retardation 65

X-Linked Mental Retardation 97
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
Meier-Gorlin Syndrome 1

Meier-Gorlin Syndrome

Ear, Patella, Short Stature Syndrome

Microtia, Absent Patellae, Micrognathia Syndrome

MGORS1

Eps

Ear-Patella-Short Stature Syndrome

Ear Patella Short Stature Syndrome

Microtia Absent Patellae Micrognathia Syndrome

Meier-Gorlin Syndrome, Type 1
Syndromic X-Linked Intellectual Disability Claes-Jensen Type

Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type

Mrxscj

Mrxsj

Syndromic X-Linked Intellectual Disability Due To Jarid1c Mutation

Syndromic X-Linked Mental Retardation Jarid1c-Related
Type 1 Diabetes Mellitus 4

Diabetes Mellitus, Insulin-Dependent, 4

Iddm4

Insulin-Dependent Diabetes Mellitus 4

T1D4

Insulin-Dependent Diabetes Mellitus-4
White-Sutton Syndrome

WHSUS

Mrd37

Intellectual Disability-Microcephaly-Strabismus-Behavioral Abnormalities Syndrome

Mental Retardation, Autosomal Dominant 37

Autosomal Dominant Mental Retardation 37

Pogz-Related Intellectual Disability Syndrome
Hyperoxaluria, Primary, Type I

Primary Hyperoxaluria Type 1

HP1

Glycolic Aciduria

Alanine-Glyoxylate Aminotransferase Deficiency

Hepatic Agt Deficiency

Oxalosis I

Primary Hyperoxaluria, Type I

Serine:Pyruvate Aminotransferase Deficiency

Hyperoxaluria, Primary, Type 1

Peroxisomal Alanine-Glyoxylate Aminotransferase Deficiency

Peroxisomal Alanine Glyoxylate Aminotransferase Deficiency

Serine Pyruvate Aminotransferase Deficiency

Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency

Oxalosis 1

Hyperoxaluria Primary 1

Hyperoxaluria Primary Type I

Ph1

Primary Hyperoxaluria Type I

Oxalosis Type 1

2-Oxoglutarate Glyoxylate Carboligase Deficiency
Primary Hyperoxaluria

Hyperoxaluria

Hyperoxaluria, Primary

Oxalosis

Primary Oxalosis

Congenital Oxaluria

D-Glycerate Dehydrogenase Deficiency

Glyceric Aciduria

Glycolic Aciduria

Hepatic Agt Deficiency

Oxaluria, Primary

Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency

Primary Oxaluria

Hyperoxaluria Primary

Primary Hyperoxaluria Type 2

Primary Hyperoxaluria, Type I
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome

Icf Syndrome

Immunodeficiency Syndrome, Variable

Ciid

Centromeric Instability, Immunodeficiency Syndrome

Immune Deficiency, Variable, With Centromeric Instability Of Chromosomes 1, 9, And 16

Icf
Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic
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-RS07407 KMT5B Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus KMT5B RGD RGD:1311637
Mus musculus KMT5B MGD MGI:2444557
Felis catus KMT5B VGNC VGNC:63163
Canis familiaris KMT5B VGNC VGNC:42494
Macaca mulatta KMT5B VGNC VGNC:74110