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MEIS2 Meis homeobox 2 [ Homo sapiens (human) ]

Gene ID: 4212, updated on 27-Nov-2024

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
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Genomic context

See MEIS2 in Genome Data Viewer
Location:
15q14
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (36889204..37101311, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (34694657..34906720, complement)
RS_2024_09 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 ATAC-STARR-seq lymphoblastoid silent region 6294 Neighboring gene uncharacterized LOC124903465 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6295 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9196 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9197 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6296 Neighboring gene NANOG hESC enhancer GRCh37_chr15:37398796-37399337 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6297 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
 
involved_in brain development IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in embryonic pattern specification IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in eye development IBA
Inferred from Biological aspect of Ancestor
more info
 
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
 
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
 
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
located_in chromatin ISA
Inferred from Sequence Alignment
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)

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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/TrEMBL
    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/TrEMBL
    B3KPD8
    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/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
    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/TrEMBL
    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/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/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_2024_08

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.