MEIS2 Meis homeobox 2 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

Location:: 15q14

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (36889204..37101311, complement)
RS_2023_10	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_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Novel genetic markers for chronic kidney disease in a geographically isolated population of Indigenous Australians: Individual and multiple phenotype genome-wide association study.
Title: Novel genetic markers for chronic kidney disease in a geographically isolated population of Indigenous Australians: Individual and multiple phenotype genome-wide association study.
Cellular Ligand-Receptor Perturbations Unravel MEIS2 as a Key Factor for the Aggressive Progression and Prognosis in Stage II/III Colorectal Cancer.
Title: Cellular Ligand-Receptor Perturbations Unravel MEIS2 as a Key Factor for the Aggressive Progression and Prognosis in Stage II/III Colorectal Cancer.
LINC-PINT suppresses breast cancer cell proliferation and migration via MEIS2/PPP3CC/NF-kappaB pathway by sponging miR-576-5p.
Title: LINC-PINT suppresses breast cancer cell proliferation and migration via MEIS2/PPP3CC/NF-κB pathway by sponging miR-576-5p.
IGF2BP2 promotes the progression of ovarian endometriosis by regulating m6A-modified MEIS2 and GATA6.
Title: IGF2BP2 promotes the progression of ovarian endometriosis by regulating m6A-modified MEIS2 and GATA6.
CircDHRS3 inhibits prostate cancer cell proliferation and metastasis through the circDHRS3/miR-421/MEIS2 axis.
Title: CircDHRS3 inhibits prostate cancer cell proliferation and metastasis through the circDHRS3/miR-421/MEIS2 axis.
Meis homeobox 2 (MEIS2) inhibits the proliferation and promotes apoptosis of thyroid cancer cell and through the NF-kappaB signaling pathway.
Title: Meis homeobox 2 (MEIS2) inhibits the proliferation and promotes apoptosis of thyroid cancer cell and through the NF-κB signaling pathway.
Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study.
Title: Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study.
Expression of ISL1 and its partners in prostate cancer progression and neuroendocrine differentiation.
Title: Expression of ISL1 and its partners in prostate cancer progression and neuroendocrine differentiation.
MEIS2 sequence variant in a child with intellectual disability and cardiac defects: Expansion of the phenotypic spectrum and documentation of low-level mosaicism in an unaffected parent.
Title: MEIS2 sequence variant in a child with intellectual disability and cardiac defects: Expansion of the phenotypic spectrum and documentation of low-level mosaicism in an unaffected parent.
Inhibition of Senescence-Associated Genes Rb1 and Meis2 in Adult Cardiomyocytes Results in Cell Cycle Reentry and Cardiac Repair Post-Myocardial Infarction.
Title: Inhibition of Senescence-Associated Genes Rb1 and Meis2 in Adult Cardiomyocytes Results in Cell Cycle Reentry and Cardiac Repair Post-Myocardial Infarction.

Submit: New GeneRIF Correction See all GeneRIFs (40)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 EBI GWAS CatalogPubMed
Genome-wide association study and meta-analysis of intraocular pressure. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-145003 (e-PCR)
- UniSTS:174369

SHGC-85737 (e-PCR)
- UniSTS:103767

D15S555 (e-PCR)
- UniSTS:70779

SHGC-155559 (e-PCR)
- UniSTS:183421

Mrg1 (e-PCR), detects polymorphism
- UniSTS:507072

NoName (e-PCR)
- UniSTS:34756

WI-18493 (e-PCR)
- UniSTS:50670

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	ISS Inferred from Sequence or Structural Similarity more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables transcription factor binding	ISS Inferred from Sequence or Structural Similarity more info

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
part_of chromatin	ISA Inferred from Sequence Alignment more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor 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

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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

NG_029108.1 RefSeqGene

Range

5751..217096

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001220482.2 → NP_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:294 → 333

Homeobox_KN; Homeobox KN domain

pfam16493
Location:110 → 194

Meis_PKNOX_N; N-terminal of Homeobox Meis and PKNOX1
NM_002399.4 → NP_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:281 → 320

Homeobox_KN; Homeobox KN domain

pfam16493
Location:97 → 181

Meis_PKNOX_N; N-terminal of Homeobox Meis and PKNOX1
NM_170674.5 → NP_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:294 → 333

Homeobox_KN; Homeobox KN domain

pfam16493
Location:110 → 194

Meis_PKNOX_N; N-terminal of Homeobox Meis and PKNOX1
NM_170675.5 → NP_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:294 → 333

Homeobox_KN; Homeobox KN domain

pfam09770
Location:335 → 463

PAT1; Topoisomerase II-associated protein PAT1

pfam16493
Location:110 → 194

Meis_PKNOX_N; N-terminal of Homeobox Meis and PKNOX1
NM_170676.5 → NP_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:294 → 333

Homeobox_KN; Homeobox KN domain

pfam16493
Location:110 → 194

Meis_PKNOX_N; N-terminal of Homeobox Meis and PKNOX1
NM_170677.5 → NP_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:294 → 333

Homeobox_KN; Homeobox KN domain

pfam16493
Location:110 → 194

Meis_PKNOX_N; N-terminal of Homeobox Meis and PKNOX1
NM_172315.3 → NP_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:281 → 320

Homeobox_KN; Homeobox KN domain

pfam16493
Location:97 → 181

Meis_PKNOX_N; N-terminal of Homeobox Meis and PKNOX1
NM_172316.3 → NP_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:206 → 245

Homeobox_KN; Homeobox KN domain

pfam16493
Location:22 → 106

Meis_PKNOX_N; N-terminal of Homeobox Meis and PKNOX1

RNA

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_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000015.10 Reference GRCh38.p14 Primary Assembly

Range

36889204..37101311 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

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

NM_020149.2: Suppressed sequence

Description

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