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    MEIS2 Meis homeobox 2 [ Homo sapiens (human) ]

    Gene ID: 4212, updated on 7-Sep-2023

    Summary

    Official Symbol
    MEIS2provided by HGNC
    Official Full Name
    Meis homeobox 2provided by HGNC
    Primary source
    HGNC:HGNC:7001
    See related
    Ensembl:ENSG00000134138 MIM:601740; AllianceGenome:HGNC:7001
    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
    MRG1; CPCMR; HsT18361
    Summary
    This gene encodes a homeobox protein belonging to the TALE ('three amino acid loop extension') family of homeodomain-containing proteins. TALE homeobox proteins are highly conserved transcription regulators, and several members have been shown to be essential contributors to developmental programs. Multiple transcript variants encoding distinct isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in endometrium (RPKM 12.8), prostate (RPKM 12.0) and 24 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See MEIS2 in Genome Data Viewer
    Location:
    15q14
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (36889204..37101311, complement)
    RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (34694657..34906720, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (37181405..37393512, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA U3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:37169875-37170652 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:37170653-37171430 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:37172643-37173204 Neighboring gene NANOG hESC enhancer GRCh37_chr15:37173676-37174246 Neighboring gene uncharacterized LOC145845 Neighboring gene NANOG hESC enhancer GRCh37_chr15:37190004-37190592 Neighboring gene NANOG hESC enhancer GRCh37_chr15:37190593-37191179 Neighboring gene VISTA enhancer hs181 Neighboring gene microRNA 8063 Neighboring gene Sharpr-MPRA regulatory region 4521 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr15:37337602-37338196 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr15:37338197-37338789 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:37386941-37387802 Neighboring gene uncharacterized LOC124903465 Neighboring gene NANOG hESC enhancer GRCh37_chr15:37398796-37399337 Neighboring gene VISTA enhancer hs572 Neighboring gene NANOG hESC enhancer GRCh37_chr15:37528451-37528979 Neighboring gene VISTA enhancer hs599 Neighboring gene uncharacterized LOC105370772 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:37718991-37719632 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:37719633-37720272 Neighboring gene ribosomal protein S15 pseudogene 8

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
    MedGen: C1832950 OMIM: 600987 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2021-09-14)

    ClinGen Genome Curation PagePubMed
    Triplosensitivity

    No evidence available (Last evaluated 2021-09-14)

    ClinGen Genome Curation Page

    EBI GWAS Catalog

    Description
    Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.
    EBI GWAS Catalog
    Genome-wide association study and meta-analysis of intraocular pressure.
    EBI GWAS Catalog
    Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC2820

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in animal organ morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in brain development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in embryonic pattern specification IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in eye development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in negative regulation of myeloid cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in pancreas development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cardiac muscle myoblast proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cell population proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of mitotic cell cycle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to growth factor IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to mechanical stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in visual learning IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    homeobox protein Meis2
    Names
    Meis homolog 2
    Meis1, myeloid ecotropic viral integration site 1 homolog 2
    Meis1-related gene 1
    TALE homeobox protein Meis2
    meis1-related protein 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_029108.1 RefSeqGene

      Range
      5751..217096
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001220482.2NP_001207411.1  homeobox protein Meis2 isoform d

      See identical proteins and their annotated locations for NP_001207411.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (i) differs in the 5' UTR, lacks the coding exon containing the stop codon, and uses an alternate in-frame splice junction at the 5' end of an exon compared to variant a. The resulting isoform (d) has a longer and distinct C-terminus and lacks an alternate in-frame segment compared to isoform a. Variants d and i both encode the same isoform (d).
      Source sequence(s)
      AC018563, AC078909, AK226072, AK300247, BC050431, BM679305
      Consensus CDS
      CCDS10045.1
      UniProtKB/Swiss-Prot
      O14770
      UniProtKB/TrEMBL
      A0A024R9L4, B7Z6F6
      Related
      ENSP00000341400.4, ENST00000338564.9
      Conserved Domains (2) summary
      pfam05920
      Location:294333
      Homeobox_KN; Homeobox KN domain
      pfam16493
      Location:110194
      Meis_PKNOX_N; N-terminal of Homeobox Meis and PKNOX1
    2. NM_002399.4NP_002390.1  homeobox protein Meis2 isoform f

      See identical proteins and their annotated locations for NP_002390.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (f) differs in the 5' UTR and coding sequence compared to variant a. The resulting isoform (f) has a shorter and distinct N-terminus and lacks an alternate internal segment compared to isoform a.
      Source sequence(s)
      AC018563, AC078909, AK300247, BC001516, BM679305
      Consensus CDS
      CCDS42014.1
      UniProtKB/Swiss-Prot
      O14770
      UniProtKB/TrEMBL
      B3KPD8, B7Z6F6
      Related
      ENSP00000339549.5, ENST00000340545.9
      Conserved Domains (2) summary
      pfam05920
      Location:281320
      Homeobox_KN; Homeobox KN domain
      pfam16493
      Location:97181
      Meis_PKNOX_N; N-terminal of Homeobox Meis and PKNOX1
    3. NM_170674.5NP_733774.1  homeobox protein Meis2 isoform b

      See identical proteins and their annotated locations for NP_733774.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (b) uses an alternate in-frame splice junction at the 5' end of a coding exon compared to variant a. It encodes a shorter isoform (b) that is missing an internal segment compared to isoform a.
      Source sequence(s)
      AC018563, AC078909, AF179896, AK056216, BC050431, BM679305, DA689122
      Consensus CDS
      CCDS45218.1
      UniProtKB/Swiss-Prot
      O14770
      UniProtKB/TrEMBL
      B3KPD8
      Related
      ENSP00000453497.1, ENST00000559561.5
      Conserved Domains (2) summary
      pfam05920
      Location:294333
      Homeobox_KN; Homeobox KN domain
      pfam16493
      Location:110194
      Meis_PKNOX_N; N-terminal of Homeobox Meis and PKNOX1
    4. NM_170675.5NP_733775.1  homeobox protein Meis2 isoform c

      See identical proteins and their annotated locations for NP_733775.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (c) lacks the exon containing the stop codon compared to variant a, that causes a frameshift. The resulting isoform (c) contains a longer and distinct C-terminus compared to isoform a.
      Source sequence(s)
      AC018563, AC078909, AF179897, AK056216, BC050431, BM679305, DA689122
      Consensus CDS
      CCDS10044.1
      UniProtKB/Swiss-Prot
      A6NJI5, A8MWD5, B3KP98, B3KPQ6, O14770, Q96DI2, Q96KI4, Q96KI5, Q9NRS1, Q9NRS2, Q9NRS3
      UniProtKB/TrEMBL
      B3KPD8, B7Z6F6
      Related
      ENSP00000453793.1, ENST00000561208.6
      Conserved Domains (3) summary
      pfam05920
      Location:294333
      Homeobox_KN; Homeobox KN domain
      pfam09770
      Location:335463
      PAT1; Topoisomerase II-associated protein PAT1
      pfam16493
      Location:110194
      Meis_PKNOX_N; N-terminal of Homeobox Meis and PKNOX1
    5. NM_170676.5NP_733776.1  homeobox protein Meis2 isoform d

      See identical proteins and their annotated locations for NP_733776.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (d) uses an alternate in-frame splice junction at the 5' end of a coding exon and lacks the exon containing the stop codon compared to variant a, that causes a frameshift. The resulting isoform (d) lacks an alternate internal segment and has a longer and distinct C-terminus compared to isoform a. Variants d and i both encode the same isoform (d).
      Source sequence(s)
      AC018563, AC078909, AF179898, AK056216, BC050431, BM679305, DA689122
      Consensus CDS
      CCDS10045.1
      UniProtKB/Swiss-Prot
      O14770
      UniProtKB/TrEMBL
      A0A024R9L4, B3KPD8, B7Z6F6
      Conserved Domains (2) summary
      pfam05920
      Location:294333
      Homeobox_KN; Homeobox KN domain
      pfam16493
      Location:110194
      Meis_PKNOX_N; N-terminal of Homeobox Meis and PKNOX1
    6. NM_170677.5NP_733777.1  homeobox protein Meis2 isoform a

      See identical proteins and their annotated locations for NP_733777.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (a) represents the longest transcript.
      Source sequence(s)
      AC018563, AC078909, AF178948, AK056216, BC050431, BM679305, DA689122
      Consensus CDS
      CCDS45217.1
      UniProtKB/Swiss-Prot
      O14770
      UniProtKB/TrEMBL
      B3KPD8
      Related
      ENSP00000404185.2, ENST00000424352.6
      Conserved Domains (2) summary
      pfam05920
      Location:294333
      Homeobox_KN; Homeobox KN domain
      pfam16493
      Location:110194
      Meis_PKNOX_N; N-terminal of Homeobox Meis and PKNOX1
    7. NM_172315.3NP_758526.1  homeobox protein Meis2 isoform g

      See identical proteins and their annotated locations for NP_758526.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (g) differs in the 5' UTR and coding sequence compared to variant a. The resulting isoform (g) has a shorter N-terminus when compared to isoform a.
      Source sequence(s)
      AC018563, AC078909, AK056038, AK226072, BM679305, DA648763
      Consensus CDS
      CCDS45219.1
      UniProtKB/Swiss-Prot
      O14770
      UniProtKB/TrEMBL
      B3KPD8
      Related
      ENSP00000453390.1, ENST00000559085.5
      Conserved Domains (2) summary
      pfam05920
      Location:281320
      Homeobox_KN; Homeobox KN domain
      pfam16493
      Location:97181
      Meis_PKNOX_N; N-terminal of Homeobox Meis and PKNOX1
    8. NM_172316.3NP_758527.1  homeobox protein Meis2 isoform h

      See identical proteins and their annotated locations for NP_758527.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (h) differs in the 5' UTR and coding sequence compared to isoform a. The resulting isoform (h) has a shorter and distinct N-terminus and lacks an alternate internal segment compared to isoform a.
      Source sequence(s)
      AC018563, AC078909, AK056620, AK226072, BM679305
      UniProtKB/Swiss-Prot
      O14770
      Conserved Domains (2) summary
      pfam05920
      Location:206245
      Homeobox_KN; Homeobox KN domain
      pfam16493
      Location:22106
      Meis_PKNOX_N; N-terminal of Homeobox Meis and PKNOX1

    RNA

    1. NR_051953.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (e) lacks an alternate coding exon and internal segment compared to variant a, that causes a frameshift. The resulting transcript is a candidate for nonsense-mediated mRNA decay (NMD) and is therefore not thought to be protein-coding.
      Source sequence(s)
      AC018563, AC078909, AF179899, AK056216, BC050431, BM679305, DA689122

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      36889204..37101311 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      34694657..34906720 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_020149.2: Suppressed sequence

      Description
      NM_020149.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.