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    KMT2D lysine methyltransferase 2D [ Homo sapiens (human) ]

    Gene ID: 8085, updated on 9-Jun-2016
    Official Symbol
    KMT2Dprovided by HGNC
    Official Full Name
    lysine methyltransferase 2Dprovided by HGNC
    Primary source
    HGNC:HGNC:7133
    See related
    Ensembl:ENSG00000167548 HPRD:03664; MIM:602113; Vega:OTTHUMG00000166524
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ALR; KMS; MLL2; MLL4; AAD10; KABUK1; TNRC21; CAGL114
    Summary
    The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The encoded protein is part of a large protein complex called ASCOM, which has been shown to be a transcriptional regulator of the beta-globin and estrogen receptor genes. Mutations in this gene have been shown to be a cause of Kabuki syndrome. [provided by RefSeq, Oct 2010]
    Orthologs
    Location:
    12q13.12
    Exon count:
    56
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 12 NC_000012.12 (49018975..49060884, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (49412758..49453935, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369758 Neighboring gene dendrin Neighboring gene protein kinase AMP-activated non-catalytic subunit gamma 1 Neighboring gene Ras homolog enriched in brain like 1 Neighboring gene uncharacterized LOC105369759 Neighboring gene desert hedgehog

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Kabuki make-up syndrome
    MedGen: C0796004 OMIM: 147920 GeneReviews: Kabuki Syndrome
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2013-03-14)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2013-03-14)

    ClinGen Genome Curation Page
    • Activation of HOX genes during differentiation, organism-specific biosystem (from REACTOME)
      Activation of HOX genes during differentiation, organism-specific biosystemHox genes encode proteins that contain the DNA-binding homeobox motif and control early patterning of segments in the embryo as well as later events in development (reviewed in Rezsohazy et al. 2015)...
    • Activation of anterior HOX genes in hindbrain development during early embryogenesis, organism-specific biosystem (from REACTOME)
      Activation of anterior HOX genes in hindbrain development during early embryogenesis, organism-specific biosystemIn mammals, anterior Hox genes may be defined as paralog groups 1 to 4 (Natale et al. 2011), which are involved in development of the hindbrain through sequential expression in the rhombomeres, trans...
    • Chromatin modifying enzymes, organism-specific biosystem (from REACTOME)
      Chromatin modifying enzymes, organism-specific biosystemEukaryotic DNA is associated with histone proteins and organized into a complex nucleoprotein structure called chromatin. This structure decreases the accessibility of DNA but also helps to protect i...
    • Chromatin organization, organism-specific biosystem (from REACTOME)
      Chromatin organization, organism-specific biosystemChromatin organization refers to the composition and conformation of complexes between DNA, protein and RNA. It is determined by processes that result in the specification, formation or maintenance o...
    • Deactivation of the beta-catenin transactivating complex, organism-specific biosystem (from REACTOME)
      Deactivation of the beta-catenin transactivating complex, organism-specific biosystemThe mechanisms involved in downregulation of TCF-dependent transcription are not yet very well understood. beta-catenin is known to recruit a number of transcriptional repressors, including Reptin, S...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • Formation of the beta-catenin:TCF transactivating complex, organism-specific biosystem (from REACTOME)
      Formation of the beta-catenin:TCF transactivating complex, organism-specific biosystemOnce in the nucleus, beta-catenin is recruited to WNT target genes through interaction with TCF/LEF transcription factors. This family, which consists of TCF7 (also known as TCF1), TCF7L1 (also known...
    • Lysine degradation, organism-specific biosystem (from KEGG)
      Lysine degradation, organism-specific biosystem
      Lysine degradation
    • Lysine degradation, conserved biosystem (from KEGG)
      Lysine degradation, conserved biosystem
      Lysine degradation
    • PKMTs methylate histone lysines, organism-specific biosystem (from REACTOME)
      PKMTs methylate histone lysines, organism-specific biosystemLysine methyltransferases (KMTs) and arginine methyltransferases (RMTs) have a common mechanism of catalysis. Both families transfer a methyl group from a common donor, S-adenosyl-L-methionine (SAM),...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by Wnt, organism-specific biosystem (from REACTOME)
      Signaling by Wnt, organism-specific biosystemWNT signaling pathways control a wide range of developmental and adult process in metozoans including cell proliferation, cell fate decisions, cell polarity and stem cell maintenance (reviewed in Sai...
    • TCF dependent signaling in response to WNT, organism-specific biosystem (from REACTOME)
      TCF dependent signaling in response to WNT, organism-specific biosystem19 WNT ligands and 10 FZD receptors have been identified in human cells; interactions amongst these ligands and receptors vary in a developmental and tissue-specific manner and lead to activation of ...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    histone methyltransferase activity (H3-K4 specific) TAS
    Traceable Author Statement
    more info
     
    histone-lysine N-methyltransferase activity TAS
    Traceable Author Statement
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transcription regulatory region DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    beta-catenin-TCF complex assembly TAS
    Traceable Author Statement
    more info
     
    chromatin silencing ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    histone H3-K4 methylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    oocyte growth ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    oogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of intracellular estrogen receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of transcription, DNA-templated NAS
    Non-traceable Author Statement
    more info
    PubMed 
    response to estrogen IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    MLL3/4 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    histone methyltransferase complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Preferred Names
    histone-lysine N-methyltransferase 2D
    Names
    ALL1-related protein
    Kabuki make-up syndrome
    Kabuki mental retardation syndrome
    histone-lysine N-methyltransferase MLL2
    lysine (K)-specific methyltransferase 2D
    lysine N-methyltransferase 2D
    myeloid/lymphoid or mixed-lineage leukemia 2
    trinucleotide repeat containing 21
    NP_003473.3

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_027827.1 RefSeqGene

      Range
      5001..41350
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003482.3NP_003473.3  histone-lysine N-methyltransferase 2D

      See identical proteins and their annotated locations for NP_003473.3

      Status: REVIEWED

      Source sequence(s)
      AB209494, AC011603, AF010403, AF010404, AW997729, BC039197, BF739070, BF876885, BF993837, BI031059, BX956541
      Consensus CDS
      CCDS44873.1
      UniProtKB/Swiss-Prot
      O14686
      UniProtKB/TrEMBL
      Q59FG6, Q6PIA1
      Related
      ENSP00000301067, OTTHUMP00000233155, ENST00000301067, OTTHUMT00000390183
      Conserved Domains (12) summary
      smart00542
      Location:52405327
      FYRC; FY-rich domain, C-terminal region
      smart00317
      Location:53975519
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      cd00084
      Location:20212072
      HMG-box; High Mobility Group (HMG)-box is found in a variety of eukaryotic chromosomal proteins and transcription factors. HMGs bind to the minor groove of DNA and have been classified by DNA binding preferences. Two phylogenically distinct groups of Class I ...
      pfam05964
      Location:51805234
      FYRN; F/Y-rich N-terminus
      pfam15392
      Location:714853
      Joubert; Joubert syndrome-associated
      cd15509
      Location:228273
      PHD1_KMT2C_like; PHD finger 1 found in Histone-lysine N-methyltransferase 2C (KMT2C) and 2D (KMT2D)
      cd15513
      Location:14291475
      PHD5_KMT2C_like; PHD finger 5 found in Histone-lysine N-methyltransferase 2C (KMT2C) and PHD finger 4 found in KMT2D
      cd15597
      Location:13781428
      PHD3_KMT2D; PHD finger 3 found in Histone-lysine N-methyltransferase 2D (KMT2D)
      cd15601
      Location:15061556
      PHD5_KMT2D; PHD finger 5 found in Histone-lysine N-methyltransferase 2D (KMT2D)
      cd15695
      Location:134217
      ePHD1_KMT2D; Extended PHD finger 1 found in histone-lysine N-methyltransferase 2D (KMT2D)
      cd15698
      Location:50325138
      ePHD2_KMT2D; Extended PHD finger 2 found in histone-lysine N-methyltransferase 2D (KMT2D)
      cl22851
      Location:275320
      PHD_SF; PHD finger superfamily

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p7 Primary Assembly

      Range
      49018975..49060884 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006719616.3XP_006719679.1  

      Conserved Domains (12) summary
      smart00542
      Location:52395326
      FYRC; FY-rich domain, C-terminal region
      smart00317
      Location:53965518
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      cd00084
      Location:20202071
      HMG-box; High Mobility Group (HMG)-box is found in a variety of eukaryotic chromosomal proteins and transcription factors. HMGs bind to the minor groove of DNA and have been classified by DNA binding preferences. Two phylogenically distinct groups of Class I ...
      pfam05964
      Location:51795233
      FYRN; F/Y-rich N-terminus
      pfam15392
      Location:714853
      Joubert; Joubert syndrome-associated
      cd15509
      Location:228273
      PHD1_KMT2C_like; PHD finger 1 found in Histone-lysine N-methyltransferase 2C (KMT2C) and 2D (KMT2D)
      cd15513
      Location:14281474
      PHD5_KMT2C_like; PHD finger 5 found in Histone-lysine N-methyltransferase 2C (KMT2C) and PHD finger 4 found in KMT2D
      cd15597
      Location:13771427
      PHD3_KMT2D; PHD finger 3 found in Histone-lysine N-methyltransferase 2D (KMT2D)
      cd15601
      Location:15051555
      PHD5_KMT2D; PHD finger 5 found in Histone-lysine N-methyltransferase 2D (KMT2D)
      cd15695
      Location:134217
      ePHD1_KMT2D; Extended PHD finger 1 found in histone-lysine N-methyltransferase 2D (KMT2D)
      cd15698
      Location:50315137
      ePHD2_KMT2D; Extended PHD finger 2 found in histone-lysine N-methyltransferase 2D (KMT2D)
      cl22851
      Location:275320
      PHD_SF; PHD finger superfamily
    2. XM_005269162.4XP_005269219.1  

      See identical proteins and their annotated locations for XP_005269219.1

      UniProtKB/Swiss-Prot
      O14686
      Conserved Domains (12) summary
      smart00542
      Location:52405327
      FYRC; FY-rich domain, C-terminal region
      smart00317
      Location:53975519
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      cd00084
      Location:20212072
      HMG-box; High Mobility Group (HMG)-box is found in a variety of eukaryotic chromosomal proteins and transcription factors. HMGs bind to the minor groove of DNA and have been classified by DNA binding preferences. Two phylogenically distinct groups of Class I ...
      pfam05964
      Location:51805234
      FYRN; F/Y-rich N-terminus
      pfam15392
      Location:714853
      Joubert; Joubert syndrome-associated
      cd15509
      Location:228273
      PHD1_KMT2C_like; PHD finger 1 found in Histone-lysine N-methyltransferase 2C (KMT2C) and 2D (KMT2D)
      cd15513
      Location:14291475
      PHD5_KMT2C_like; PHD finger 5 found in Histone-lysine N-methyltransferase 2C (KMT2C) and PHD finger 4 found in KMT2D
      cd15597
      Location:13781428
      PHD3_KMT2D; PHD finger 3 found in Histone-lysine N-methyltransferase 2D (KMT2D)
      cd15601
      Location:15061556
      PHD5_KMT2D; PHD finger 5 found in Histone-lysine N-methyltransferase 2D (KMT2D)
      cd15695
      Location:134217
      ePHD1_KMT2D; Extended PHD finger 1 found in histone-lysine N-methyltransferase 2D (KMT2D)
      cd15698
      Location:50325138
      ePHD2_KMT2D; Extended PHD finger 2 found in histone-lysine N-methyltransferase 2D (KMT2D)
      cl22851
      Location:275320
      PHD_SF; PHD finger superfamily
    3. XM_006719614.3XP_006719677.1  

      UniProtKB/Swiss-Prot
      O14686
      Conserved Domains (12) summary
      smart00542
      Location:52435330
      FYRC; FY-rich domain, C-terminal region
      smart00317
      Location:54005522
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      cd00084
      Location:20242075
      HMG-box; High Mobility Group (HMG)-box is found in a variety of eukaryotic chromosomal proteins and transcription factors. HMGs bind to the minor groove of DNA and have been classified by DNA binding preferences. Two phylogenically distinct groups of Class I ...
      pfam05964
      Location:51835237
      FYRN; F/Y-rich N-terminus
      pfam15392
      Location:714853
      Joubert; Joubert syndrome-associated
      cd15509
      Location:228273
      PHD1_KMT2C_like; PHD finger 1 found in Histone-lysine N-methyltransferase 2C (KMT2C) and 2D (KMT2D)
      cd15513
      Location:14291475
      PHD5_KMT2C_like; PHD finger 5 found in Histone-lysine N-methyltransferase 2C (KMT2C) and PHD finger 4 found in KMT2D
      cd15597
      Location:13781428
      PHD3_KMT2D; PHD finger 3 found in Histone-lysine N-methyltransferase 2D (KMT2D)
      cd15601
      Location:15061556
      PHD5_KMT2D; PHD finger 5 found in Histone-lysine N-methyltransferase 2D (KMT2D)
      cd15695
      Location:134217
      ePHD1_KMT2D; Extended PHD finger 1 found in histone-lysine N-methyltransferase 2D (KMT2D)
      cd15698
      Location:50355141
      ePHD2_KMT2D; Extended PHD finger 2 found in histone-lysine N-methyltransferase 2D (KMT2D)
      cl22851
      Location:275320
      PHD_SF; PHD finger superfamily
    4. XM_011538774.2XP_011537076.1  

      Conserved Domains (12) summary
      smart00542
      Location:52365323
      FYRC; FY-rich domain, C-terminal region
      smart00317
      Location:54095531
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      cd00084
      Location:20172068
      HMG-box; High Mobility Group (HMG)-box is found in a variety of eukaryotic chromosomal proteins and transcription factors. HMGs bind to the minor groove of DNA and have been classified by DNA binding preferences. Two phylogenically distinct groups of Class I ...
      pfam05964
      Location:51765230
      FYRN; F/Y-rich N-terminus
      pfam15392
      Location:714853
      Joubert; Joubert syndrome-associated
      cd15509
      Location:228273
      PHD1_KMT2C_like; PHD finger 1 found in Histone-lysine N-methyltransferase 2C (KMT2C) and 2D (KMT2D)
      cd15513
      Location:14291475
      PHD5_KMT2C_like; PHD finger 5 found in Histone-lysine N-methyltransferase 2C (KMT2C) and PHD finger 4 found in KMT2D
      cd15597
      Location:13781428
      PHD3_KMT2D; PHD finger 3 found in Histone-lysine N-methyltransferase 2D (KMT2D)
      cd15601
      Location:15061556
      PHD5_KMT2D; PHD finger 5 found in Histone-lysine N-methyltransferase 2D (KMT2D)
      cd15695
      Location:134217
      ePHD1_KMT2D; Extended PHD finger 1 found in histone-lysine N-methyltransferase 2D (KMT2D)
      cd15698
      Location:50285134
      ePHD2_KMT2D; Extended PHD finger 2 found in histone-lysine N-methyltransferase 2D (KMT2D)
      cl22851
      Location:275320
      PHD_SF; PHD finger superfamily
    5. XM_011538773.2XP_011537075.1  

      Conserved Domains (12) summary
      smart00542
      Location:52395326
      FYRC; FY-rich domain, C-terminal region
      smart00317
      Location:54125534
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      cd00084
      Location:20202071
      HMG-box; High Mobility Group (HMG)-box is found in a variety of eukaryotic chromosomal proteins and transcription factors. HMGs bind to the minor groove of DNA and have been classified by DNA binding preferences. Two phylogenically distinct groups of Class I ...
      pfam05964
      Location:51795233
      FYRN; F/Y-rich N-terminus
      pfam15392
      Location:714853
      Joubert; Joubert syndrome-associated
      cd15509
      Location:228273
      PHD1_KMT2C_like; PHD finger 1 found in Histone-lysine N-methyltransferase 2C (KMT2C) and 2D (KMT2D)
      cd15513
      Location:14281474
      PHD5_KMT2C_like; PHD finger 5 found in Histone-lysine N-methyltransferase 2C (KMT2C) and PHD finger 4 found in KMT2D
      cd15597
      Location:13771427
      PHD3_KMT2D; PHD finger 3 found in Histone-lysine N-methyltransferase 2D (KMT2D)
      cd15601
      Location:15051555
      PHD5_KMT2D; PHD finger 5 found in Histone-lysine N-methyltransferase 2D (KMT2D)
      cd15695
      Location:134217
      ePHD1_KMT2D; Extended PHD finger 1 found in histone-lysine N-methyltransferase 2D (KMT2D)
      cd15698
      Location:50315137
      ePHD2_KMT2D; Extended PHD finger 2 found in histone-lysine N-methyltransferase 2D (KMT2D)
      cl22851
      Location:275320
      PHD_SF; PHD finger superfamily
    6. XM_011538771.2XP_011537073.1  

      Conserved Domains (12) summary
      smart00542
      Location:52425329
      FYRC; FY-rich domain, C-terminal region
      smart00317
      Location:54155537
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      cd00084
      Location:20232074
      HMG-box; High Mobility Group (HMG)-box is found in a variety of eukaryotic chromosomal proteins and transcription factors. HMGs bind to the minor groove of DNA and have been classified by DNA binding preferences. Two phylogenically distinct groups of Class I ...
      pfam05964
      Location:51825236
      FYRN; F/Y-rich N-terminus
      pfam15392
      Location:714853
      Joubert; Joubert syndrome-associated
      cd15509
      Location:228273
      PHD1_KMT2C_like; PHD finger 1 found in Histone-lysine N-methyltransferase 2C (KMT2C) and 2D (KMT2D)
      cd15513
      Location:14281474
      PHD5_KMT2C_like; PHD finger 5 found in Histone-lysine N-methyltransferase 2C (KMT2C) and PHD finger 4 found in KMT2D
      cd15597
      Location:13771427
      PHD3_KMT2D; PHD finger 3 found in Histone-lysine N-methyltransferase 2D (KMT2D)
      cd15601
      Location:15051555
      PHD5_KMT2D; PHD finger 5 found in Histone-lysine N-methyltransferase 2D (KMT2D)
      cd15695
      Location:134217
      ePHD1_KMT2D; Extended PHD finger 1 found in histone-lysine N-methyltransferase 2D (KMT2D)
      cd15698
      Location:50345140
      ePHD2_KMT2D; Extended PHD finger 2 found in histone-lysine N-methyltransferase 2D (KMT2D)
      cl22851
      Location:275320
      PHD_SF; PHD finger superfamily
    7. XM_011538772.2XP_011537074.1  

      Conserved Domains (12) summary
      smart00542
      Location:52405327
      FYRC; FY-rich domain, C-terminal region
      smart00317
      Location:54135535
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      cd00084
      Location:20212072
      HMG-box; High Mobility Group (HMG)-box is found in a variety of eukaryotic chromosomal proteins and transcription factors. HMGs bind to the minor groove of DNA and have been classified by DNA binding preferences. Two phylogenically distinct groups of Class I ...
      pfam05964
      Location:51805234
      FYRN; F/Y-rich N-terminus
      pfam15392
      Location:714853
      Joubert; Joubert syndrome-associated
      cd15509
      Location:228273
      PHD1_KMT2C_like; PHD finger 1 found in Histone-lysine N-methyltransferase 2C (KMT2C) and 2D (KMT2D)
      cd15513
      Location:14291475
      PHD5_KMT2C_like; PHD finger 5 found in Histone-lysine N-methyltransferase 2C (KMT2C) and PHD finger 4 found in KMT2D
      cd15597
      Location:13781428
      PHD3_KMT2D; PHD finger 3 found in Histone-lysine N-methyltransferase 2D (KMT2D)
      cd15601
      Location:15061556
      PHD5_KMT2D; PHD finger 5 found in Histone-lysine N-methyltransferase 2D (KMT2D)
      cd15695
      Location:134217
      ePHD1_KMT2D; Extended PHD finger 1 found in histone-lysine N-methyltransferase 2D (KMT2D)
      cd15698
      Location:50325138
      ePHD2_KMT2D; Extended PHD finger 2 found in histone-lysine N-methyltransferase 2D (KMT2D)
      cl22851
      Location:275320
      PHD_SF; PHD finger superfamily
    8. XM_011538776.2XP_011537078.1  

      Conserved Domains (12) summary
      smart00542
      Location:52125299
      FYRC; FY-rich domain, C-terminal region
      smart00317
      Location:53855507
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      cd00084
      Location:20242075
      HMG-box; High Mobility Group (HMG)-box is found in a variety of eukaryotic chromosomal proteins and transcription factors. HMGs bind to the minor groove of DNA and have been classified by DNA binding preferences. Two phylogenically distinct groups of Class I ...
      pfam05964
      Location:51525206
      FYRN; F/Y-rich N-terminus
      pfam15392
      Location:714853
      Joubert; Joubert syndrome-associated
      cd15509
      Location:228273
      PHD1_KMT2C_like; PHD finger 1 found in Histone-lysine N-methyltransferase 2C (KMT2C) and 2D (KMT2D)
      cd15513
      Location:14291475
      PHD5_KMT2C_like; PHD finger 5 found in Histone-lysine N-methyltransferase 2C (KMT2C) and PHD finger 4 found in KMT2D
      cd15597
      Location:13781428
      PHD3_KMT2D; PHD finger 3 found in Histone-lysine N-methyltransferase 2D (KMT2D)
      cd15601
      Location:15061556
      PHD5_KMT2D; PHD finger 5 found in Histone-lysine N-methyltransferase 2D (KMT2D)
      cd15695
      Location:134217
      ePHD1_KMT2D; Extended PHD finger 1 found in histone-lysine N-methyltransferase 2D (KMT2D)
      cd15698
      Location:50045110
      ePHD2_KMT2D; Extended PHD finger 2 found in histone-lysine N-methyltransferase 2D (KMT2D)
      cl22851
      Location:275320
      PHD_SF; PHD finger superfamily
    9. XM_011538770.2XP_011537072.1  

      Conserved Domains (12) summary
      smart00542
      Location:52435330
      FYRC; FY-rich domain, C-terminal region
      smart00317
      Location:54165538
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      cd00084
      Location:20242075
      HMG-box; High Mobility Group (HMG)-box is found in a variety of eukaryotic chromosomal proteins and transcription factors. HMGs bind to the minor groove of DNA and have been classified by DNA binding preferences. Two phylogenically distinct groups of Class I ...
      pfam05964
      Location:51835237
      FYRN; F/Y-rich N-terminus
      pfam15392
      Location:714853
      Joubert; Joubert syndrome-associated
      cd15509
      Location:228273
      PHD1_KMT2C_like; PHD finger 1 found in Histone-lysine N-methyltransferase 2C (KMT2C) and 2D (KMT2D)
      cd15513
      Location:14291475
      PHD5_KMT2C_like; PHD finger 5 found in Histone-lysine N-methyltransferase 2C (KMT2C) and PHD finger 4 found in KMT2D
      cd15597
      Location:13781428
      PHD3_KMT2D; PHD finger 3 found in Histone-lysine N-methyltransferase 2D (KMT2D)
      cd15601
      Location:15061556
      PHD5_KMT2D; PHD finger 5 found in Histone-lysine N-methyltransferase 2D (KMT2D)
      cd15695
      Location:134217
      ePHD1_KMT2D; Extended PHD finger 1 found in histone-lysine N-methyltransferase 2D (KMT2D)
      cd15698
      Location:50355141
      ePHD2_KMT2D; Extended PHD finger 2 found in histone-lysine N-methyltransferase 2D (KMT2D)
      cl22851
      Location:275320
      PHD_SF; PHD finger superfamily

    RNA

    1. XR_001748874.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018923.2 Alternate CHM1_1.1

      Range
      49378552..49414901 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)