Kmt2d (lysine methyltransferase 2D) - Rat Genome Database

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Gene: Kmt2d (lysine methyltransferase 2D) Heterocephalus glaber
Analyze
Symbol: Kmt2d
Name: lysine methyltransferase 2D
RGD ID: 18932537
Description: ENCODES a protein that exhibits DNA-binding transcription activator activity, RNA polymerase II-specific (ortholog); transcription cis-regulatory region binding (ortholog); INVOLVED IN heterochromatin formation (ortholog); in utero embryonic development (ortholog); oocyte growth (ortholog); PARTICIPATES IN histone modification pathway; ASSOCIATED WITH autism spectrum disorder (ortholog); autosomal dominant intellectual developmental disorder 26 (ortholog); BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (ortholog); FOUND IN histone methyltransferase complex (inferred); MLL3/4 complex (inferred); nucleoplasm (inferred)
Type: protein-coding
RefSeq Status: MODEL
Previously known as: histone-lysine N-methyltransferase 2D
RGD Orthologs
Human
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Alliance Orthologs
More Info more info ...
Latest Assembly: HetGla 1.0 - Naked Mole-Rat female 1.0 Assembly
Position:
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248163,133,659 - 3,166,346 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248163,129,127 - 3,169,143 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
autism spectrum disorder  (ISO)
autosomal dominant intellectual developmental disorder 26  (ISO)
BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME  (ISO)
Branchial Cleft Anomalies  (ISO)
breast cancer  (ISO)
breast carcinoma  (ISO)
Breast Neoplasms  (ISO)
CAKUT  (ISO)
Carotid Atherosclerosis  (ISO)
CHARGE syndrome  (ISO)
choanal atresia  (ISO)
colon carcinoma  (ISO)
Complement Component C1s Deficiency  (ISO)
Dandy-Walker syndrome  (ISO)
diffuse large B-cell lymphoma  (ISO)
eccrine porocarcinoma  (ISO)
epilepsy  (ISO)
esophagus squamous cell carcinoma  (ISO)
follicular lymphoma  (ISO)
gastric adenocarcinoma  (ISO)
gastrointestinal lymphoma  (ISO)
genetic disease  (ISO)
hereditary nonpolyposis colorectal cancer type 5  (ISO)
high grade glioma  (ISO)
intellectual disability  (ISO)
Intervertebral Disc Displacement  (ISO)
intracranial aneurysm  (ISO)
Kabuki syndrome  (ISO)
Kabuki Syndrome 1  (ISO)
lung cancer  (ISO)
lung non-small cell carcinoma  (ISO)
lung small cell carcinoma  (ISO)
lung squamous cell carcinoma  (ISO)
Lymphatic Metastasis  (ISO)
lymphoma  (ISO)
male infertility  (ISO)
meningioma  (ISO)
microcephaly  (ISO)
multiple myeloma  (ISO)
Neoplasm Metastasis  (ISO)
Nervous System Malformations  (ISO)
Neurodevelopmental Disorders  (ISO)
oral squamous cell carcinoma  (ISO)
papillary thyroid carcinoma  (ISO)
Paraproteinemias  (ISO)
Phyllodes Tumor  (ISO)
plasma cell neoplasm  (ISO)
prostate cancer  (ISO)
Prostatic Neoplasms  (ISO)
Rubinstein Taybi like Syndrome  (ISO)
Sezary's disease  (ISO)
Smith-Magenis syndrome  (ISO)
spermatogenic failure 5  (ISO)
stomach cancer  (ISO)
T-cell non-Hodgkin lymphoma  (ISO)
type 2 diabetes mellitus  (ISO)
urinary bladder cancer  (ISO)
Vein of Galen Aneurysm  (ISO)
VISS syndrome  (ISO)
visual epilepsy  (ISO)

Molecular Pathway Annotations     Click to see Annotation Detail View
References
Additional References at PubMed
PMID:22301074   PMID:30032202  


Genomics

Comparative Map Data
Kmt2d
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248163,133,659 - 3,166,346 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248163,129,127 - 3,169,143 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2
KMT2D
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381249,018,978 - 49,060,794 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1249,018,975 - 49,060,794 (-)EnsemblGRCh38hg38GRCh38
GRCh371249,412,761 - 49,454,577 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361247,699,025 - 47,735,374 (-)NCBINCBI36Build 36hg18NCBI36
Build 341247,701,829 - 47,735,374NCBI
Celera1248,207,544 - 48,243,891 (-)NCBICelera
Cytogenetic Map12q13.12NCBI
HuRef1246,444,274 - 46,480,622 (-)NCBIHuRef
CHM1_11249,378,552 - 49,414,901 (-)NCBICHM1_1
T2T-CHM13v2.01248,981,150 - 49,022,967 (-)NCBIT2T-CHM13v2.0
Kmt2d
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391598,729,550 - 98,771,958 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1598,729,550 - 98,769,085 (-)EnsemblGRCm39 Ensembl
GRCm381598,831,669 - 98,874,077 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1598,831,669 - 98,871,204 (-)EnsemblGRCm38mm10GRCm38
MGSCv371598,662,100 - 98,701,614 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361598,662,534 - 98,679,000 (-)NCBIMGSCv36mm8
Celera15100,981,213 - 101,020,779 (-)NCBICelera
Cytogenetic Map15F1NCBI
cM Map1554.8NCBI
Kmt2d
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87131,859,696 - 131,901,032 (-)NCBIGRCr8
mRatBN7.27129,980,744 - 130,022,088 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7129,962,887 - 130,020,325 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.07140,507,137 - 140,542,479 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7140,489,492 - 140,546,908 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X115,017,255 - 115,057,219 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47137,601,739 - 137,639,556 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera7126,471,456 - 126,508,631 (-)NCBICelera
Cytogenetic Map7q36NCBI
Kmt2d
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555007,853,292 - 7,886,067 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555007,850,782 - 7,891,703 (-)NCBIChiLan1.0ChiLan1.0
KMT2D
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21045,121,319 - 45,166,200 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11245,118,075 - 45,161,536 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01239,689,463 - 39,731,904 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11240,570,152 - 40,611,463 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1240,575,083 - 40,608,661 (+)Ensemblpanpan1.1panPan2
KMT2D
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1275,516,866 - 5,556,303 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl275,521,804 - 5,553,490 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2740,701,293 - 40,740,498 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0275,568,146 - 5,607,356 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl275,572,878 - 5,605,905 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1275,532,135 - 5,571,340 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0275,522,102 - 5,561,289 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02741,093,630 - 41,132,835 (-)NCBIUU_Cfam_GSD_1.0
Kmt2d
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494566,304,962 - 66,345,590 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365126,822,057 - 6,854,451 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365126,819,240 - 6,860,852 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KMT2D
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1515,049,827 - 15,091,622 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
KMT2D
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11145,260,873 - 45,303,898 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1145,263,408 - 45,302,423 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037200,840,502 - 200,883,190 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0


Expression

RNA-SEQ Expression


Sequence


Ensembl Acc Id: ENSHGLT00000005464   ⟹   ENSHGLP00000005394
Type: CODING
Position:
Naked Mole-Rat AssemblyChrPosition (strand)Source
HetGla_female_1.0 EnsemblNW_0046248163,133,659 - 3,166,346 (+)Ensembl
Ensembl Acc Id: ENSHGLT00000005465   ⟹   ENSHGLP00000005395
Type: CODING
Position:
Naked Mole-Rat AssemblyChrPosition (strand)Source
HetGla_female_1.0 EnsemblNW_0046248163,153,500 - 3,166,346 (+)Ensembl
RefSeq Acc Id: XM_004863040   ⟹   XP_004863097
Type: CODING
Position:
Naked Mole-Rat AssemblyChrPosition (strand)Source
HetGla 1.0NW_0046248163,129,132 - 3,169,143 (+)NCBI
RefSeq Acc Id: XM_004863043   ⟹   XP_004863100
Type: CODING
Position:
Naked Mole-Rat AssemblyChrPosition (strand)Source
HetGla 1.0NW_0046248163,129,132 - 3,169,143 (+)NCBI
RefSeq Acc Id: XM_004863045   ⟹   XP_004863102
Type: CODING
Position:
Naked Mole-Rat AssemblyChrPosition (strand)Source
HetGla 1.0NW_0046248163,129,132 - 3,169,143 (+)NCBI
RefSeq Acc Id: XM_013079015   ⟹   XP_012934469
Type: CODING
Position:
Naked Mole-Rat AssemblyChrPosition (strand)Source
HetGla 1.0NW_0046248163,129,128 - 3,169,143 (+)NCBI
RefSeq Acc Id: XM_013079016   ⟹   XP_012934470
Type: CODING
Position:
Naked Mole-Rat AssemblyChrPosition (strand)Source
HetGla 1.0NW_0046248163,129,128 - 3,169,143 (+)NCBI
RefSeq Acc Id: XM_013079017   ⟹   XP_012934471
Type: CODING
Position:
Naked Mole-Rat AssemblyChrPosition (strand)Source
HetGla 1.0NW_0046248163,129,127 - 3,169,143 (+)NCBI
RefSeq Acc Id: XM_013079018   ⟹   XP_012934472
Type: CODING
Position:
Naked Mole-Rat AssemblyChrPosition (strand)Source
HetGla 1.0NW_0046248163,129,128 - 3,169,143 (+)NCBI
RefSeq Acc Id: XM_013079019   ⟹   XP_012934473
Type: CODING
Position:
Naked Mole-Rat AssemblyChrPosition (strand)Source
HetGla 1.0NW_0046248163,129,129 - 3,169,143 (+)NCBI
RefSeq Acc Id: XM_013079020   ⟹   XP_012934474
Type: CODING
Position:
Naked Mole-Rat AssemblyChrPosition (strand)Source
HetGla 1.0NW_0046248163,129,128 - 3,169,143 (+)NCBI
RefSeq Acc Id: XM_013079021   ⟹   XP_012934475
Type: CODING
Position:
Naked Mole-Rat AssemblyChrPosition (strand)Source
HetGla 1.0NW_0046248163,129,128 - 3,169,143 (+)NCBI
RefSeq Acc Id: XM_013079022   ⟹   XP_012934476
Type: CODING
Position:
Naked Mole-Rat AssemblyChrPosition (strand)Source
HetGla 1.0NW_0046248163,129,127 - 3,169,143 (+)NCBI
RefSeq Acc Id: XM_013079023   ⟹   XP_012934477
Type: CODING
Position:
Naked Mole-Rat AssemblyChrPosition (strand)Source
HetGla 1.0NW_0046248163,129,127 - 3,169,143 (+)NCBI
RefSeq Acc Id: XP_012934477   ⟸   XM_013079023
- Peptide Label: isoform X10
- UniProtKB: A0AAX6R802 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_012934476   ⟸   XM_013079022
- Peptide Label: isoform X9
- UniProtKB: A0AAX6R351 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_012934471   ⟸   XM_013079017
- Peptide Label: isoform X3
- UniProtKB: A0AAX6R7W9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_012934469   ⟸   XM_013079015
- Peptide Label: isoform X1
- UniProtKB: A0AAX6R7L9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_012934475   ⟸   XM_013079021
- Peptide Label: isoform X7
- UniProtKB: A0AAX6R3N6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_012934472   ⟸   XM_013079018
- Peptide Label: isoform X4
- UniProtKB: A0AAX6R6E6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_012934470   ⟸   XM_013079016
- Peptide Label: isoform X2
- UniProtKB: A0AAX6R4S0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_012934474   ⟸   XM_013079020
- Peptide Label: isoform X6
- UniProtKB: A0AAX6R910 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_012934473   ⟸   XM_013079019
- Peptide Label: isoform X5
- UniProtKB: A0AAX6R6K5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_004863097   ⟸   XM_004863040
- Peptide Label: isoform X8
- UniProtKB: A0AAX6Q0V6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_004863100   ⟸   XM_004863043
- Peptide Label: isoform X11
- UniProtKB: A0AAX6Q1T4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_004863102   ⟸   XM_004863045
- Peptide Label: isoform X12
- UniProtKB: A0AAX6Q1C9 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSHGLP00000005394   ⟸   ENSHGLT00000005464
Ensembl Acc Id: ENSHGLP00000005395   ⟸   ENSHGLT00000005465


Additional Information

Database Acc Id Source(s)
Ensembl Genes ENSHGLG00000003949 Ensembl, ENTREZGENE
Ensembl Transcript ENSHGLT00000005464 ENTREZGENE
Gene3D-CATH 3.30.160.360 UniProtKB/TrEMBL
  High mobility group box domain UniProtKB/TrEMBL
  SET domain UniProtKB/TrEMBL
  Zinc/RING finger domain, C3HC4 (zinc finger) UniProtKB/TrEMBL
InterPro EPHD UniProtKB/TrEMBL
  FYrich_C UniProtKB/TrEMBL
  FYrich_N UniProtKB/TrEMBL
  HMG_box_dom UniProtKB/TrEMBL
  HMG_box_dom_sf UniProtKB/TrEMBL
  KMT2D_ePHD1 UniProtKB/TrEMBL
  KMT2D_ePHD2 UniProtKB/TrEMBL
  KMT2D_PHD3 UniProtKB/TrEMBL
  KMT2D_PHD5 UniProtKB/TrEMBL
  Post-SET_dom UniProtKB/TrEMBL
  SET_dom UniProtKB/TrEMBL
  SET_dom_sf UniProtKB/TrEMBL
  SET_KMT2D UniProtKB/TrEMBL
  Znf_FYVE_PHD UniProtKB/TrEMBL
  Znf_PHD UniProtKB/TrEMBL
  Znf_PHD-finger UniProtKB/TrEMBL
  Znf_RING UniProtKB/TrEMBL
  Znf_RING/FYVE/PHD UniProtKB/TrEMBL
NCBI Gene Kmt2d ENTREZGENE
PANTHER HISTONE-LYSINE N-METHYLTRANSFERASE 2D UniProtKB/TrEMBL
  HL01030P-RELATED UniProtKB/TrEMBL
Pfam FYRC UniProtKB/TrEMBL
  FYRN UniProtKB/TrEMBL
  PHD UniProtKB/TrEMBL
  SET UniProtKB/TrEMBL
  zf-HC5HC2H UniProtKB/TrEMBL
  zf-HC5HC2H_2 UniProtKB/TrEMBL
PROSITE EPHD UniProtKB/TrEMBL
  FYRC UniProtKB/TrEMBL
  FYRN UniProtKB/TrEMBL
  POST_SET UniProtKB/TrEMBL
  SET UniProtKB/TrEMBL
  ZF_PHD_2 UniProtKB/TrEMBL
  ZF_RING_2 UniProtKB/TrEMBL
SMART FYRC UniProtKB/TrEMBL
  FYRN UniProtKB/TrEMBL
  HMG UniProtKB/TrEMBL
  PHD UniProtKB/TrEMBL
  PostSET UniProtKB/TrEMBL
  RING UniProtKB/TrEMBL
  SET UniProtKB/TrEMBL
Superfamily-SCOP FYVE/PHD zinc finger UniProtKB/TrEMBL
  HMG-box UniProtKB/TrEMBL
  SET domain UniProtKB/TrEMBL
UniProt A0AAX6Q0V6 ENTREZGENE, UniProtKB/TrEMBL
  A0AAX6Q1C9 ENTREZGENE, UniProtKB/TrEMBL
  A0AAX6Q1T4 ENTREZGENE, UniProtKB/TrEMBL
  A0AAX6R351 ENTREZGENE, UniProtKB/TrEMBL
  A0AAX6R3N6 ENTREZGENE, UniProtKB/TrEMBL
  A0AAX6R4S0 ENTREZGENE, UniProtKB/TrEMBL
  A0AAX6R6E6 ENTREZGENE, UniProtKB/TrEMBL
  A0AAX6R6K5 ENTREZGENE, UniProtKB/TrEMBL
  A0AAX6R7L9 ENTREZGENE, UniProtKB/TrEMBL
  A0AAX6R7W9 ENTREZGENE, UniProtKB/TrEMBL
  A0AAX6R802 ENTREZGENE, UniProtKB/TrEMBL
  A0AAX6R910 ENTREZGENE, UniProtKB/TrEMBL