MEIS2
entrez
4212
canonical
uniprot
O14770
canonical
ensembl
ENSG00000134138
resolver
ensp
ENSP00000339549
resolver
ensp
ENSP00000341400
resolver
ensp
ENSP00000404185
resolver
ensp
ENSP00000453390
resolver
ensp
ENSP00000453793
resolver
ensp
ENSP00000531742
resolver
ensp
ENSP00000787953
resolver
genesymbol
MEIS2
resolver
genesymbol_syn
MRG1
resolver
hgnc
HGNC:7001
resolver
uniprot
A6NJI5
resolver
uniprot
A8MWD5
resolver
uniprot
B3KP98
resolver
uniprot
B3KPD8
resolver
uniprot
B3KPQ6
resolver
uniprot
B7Z6F6
resolver
uniprot
Q96DI2
resolver
uniprot
Q96KI4
resolver
uniprot
Q96KI5
resolver
uniprot
Q9NRS1
resolver
uniprot
Q9NRS2
resolver
uniprot
Q9NRS3
resolver
uniprot_entry
B3KPD8_HUMAN
resolver
uniprot_entry
B7Z6F6_HUMAN
resolver
uniprot_entry
MEIS2_HUMAN
resolver
uniprot_sec
A6NJI5
resolver
uniprot_sec
A8MWD5
resolver
uniprot_sec
B3KP98
resolver
uniprot_sec
B3KPQ6
resolver
uniprot_sec
Q96DI2
resolver
uniprot_sec
Q96KI4
resolver
uniprot_sec
Q96KI5
resolver
uniprot_sec
Q9NRS1
resolver
uniprot_sec
Q9NRS2
resolver
uniprot_sec
Q9NRS3
resolver
amino_acid_sequence
MAQRYDELPHYGGMDGVGVPASMYGDPHAPRPIPPVHHLNHGPPLHATQHYGAHAPHPNVMPASMGSAVNDALKRDKDAIYGHPLFPLLALVFEKCELATCTPREPGVAGGDVCSSDSFNEDIAVFAKQVRAEKPLFSSNPELDNLMIQAIQVLRFHLLELEKVHELCDNFCHRYISCLKGKMPIDLVIDERDGSSKSDHEELSGSSTNLADHNPSSWRDHDDATSTHSAGTPGPSSGGHASQSGDNSSEQGDGLDNSVASPGTGDDDDPDKDKKRQKKRGIFPKVATNIMRAWLFQHLTHPYPSEEQKKQLAQDTGLTILQVNNWFINARRRIVQPMIDQSNRAGFLLDPSVSQGAAYSPEGQPMGSFVLDGQQHMGIRPAGLQSMPGDYVSQGGPMGMSMAQPSYTPPQMTPHPTQLRHGPPMHSYLPSHPHHPAMMMHGGPPTHPGMTMSAQSPTMLNSVDPNVGGQVMDIHAQ
uniprot
proteins
disease_involvement
DISEASE: Cleft palate, cardiac defects, and impaired intellectual development (CPCMR) [MIM:600987]: An autosomal dominant disease characterized by multiple congenital malformations, mild-to-severe intellectual disability with poor speech, and delayed psychomotor development. Congenital malformations include heart defects, cleft lip/palate, distally-placed thumbs and toes, and cutaneous syndactyly between the second and third toes. {ECO:0000269|PubMed:24678003, ECO:0000269|PubMed:25712757, ECO:0000269|PubMed:27225850}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in transcriptional regulation. Binds to HOX or PBX proteins to form dimers, or to a DNA-bound dimer of PBX and HOX proteins and thought to have a role in stabilization of the homeoprotein-DNA complex. Isoform 3 is required for the activity of a PDX1:PBX1b:MEIS2b complex in pancreatic acinar cells involved in the transcriptional activation of the ELA1 enhancer; the complex binds to the enhancer B element and cooperates with the transcription factor 1 complex (PTF1) bound to the enhancer A element; MEIS2 is not involved in complex DNA-binding. Probably in complex with PBX1, is involved in transcriptional regulation by KLF4. Isoform 3 and isoform 4 can bind to a EPHA8 promoter sequence containing the DNA motif 5'-CGGTCA-3'; in cooperation with a PBX protein (such as PBX2) is proposed to be involved in the transcriptional activation of EPHA8 in the developing midbrain. May be involved in regulation of myeloid differentiation. Can bind to the DNA sequence 5'-TGACAG-3'in the activator ACT sequence of the D(1A) dopamine receptor (DRD1) promoter and activate DRD1 transcription; isoform 5 cannot activate DRD1 transcription. {ECO:0000269|PubMed:10764806, ECO:0000269|PubMed:11279116, ECO:0000269|PubMed:21746878}.
uniprot
proteins
mass_dalton
51790
uniprot
proteins
mutagenesis
MUTAGEN 85; /note="L->A: Impairs interaction with PBX1; when associated with A-88."; /evidence="ECO:0000269|PubMed:20553494"; MUTAGEN 88; /note="L->A: Impairs interaction with PBX1; when associated with A-85. HELIX 285 297."; /evidence="ECO:0000269|PubMed:20553494"; MUTAGEN 94..97; /note="EKCE->NNGT: Impairs interaction with PBX1."; /evidence="ECO:0000269|PubMed:20553494"; MUTAGEN 151; /note="I->A: Impairs interaction with PBX1; when associated with A-154."; /evidence="ECO:0000269|PubMed:20553494"; MUTAGEN 154; /note="L->A: Impairs interaction with PBX1; when associated with A-151."; /evidence="ECO:0000269|PubMed:20553494"; MUTAGEN 158..159; /note="LL->AA: Impairs interaction with PBX1; when associated with A-161."; /evidence="ECO:0000269|PubMed:20553494"; MUTAGEN 161; /note="L->A: Impairs interaction with PBX1; when associated with 158-A-A-159."; /evidence="ECO:0000269|PubMed:20553494"; MUTAGEN 332; /note="R->M: Impairs DNA binding and PBX1-dependent transcriptional activation. No effect on interaction with PBX1."; /evidence="ECO:0000269|PubMed:20553494, ECO:0000269|PubMed:21746878
uniprot
proteins
protein_family
TALE/MEIS homeobox family
uniprot
proteins
pubmed
10764806
uniprot
proteins
pubmed
11279116
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
19559479
uniprot
proteins
pubmed
20523026
uniprot
proteins
pubmed
20553494
uniprot
proteins
pubmed
21746878
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24678003
uniprot
proteins
pubmed
25712757
uniprot
proteins
pubmed
26550823
uniprot
proteins
pubmed
27225850
uniprot
proteins
pubmed
9383298
uniprot
proteins
sequence_length
477
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}. Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:P97367}.
uniprot
proteins