Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4212
Gene name Gene Name - the full gene name approved by the HGNC.
Meis homeobox 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MEIS2
Synonyms (NCBI Gene) Gene synonyms aliases
CPCMR, HsT18361, MRG1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CPCMR
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q14
Summary Summary of gene provided in NCBI Entrez Gene.
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 essen
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs749346955 G>A,C Pathogenic Stop gained, non coding transcript variant, coding sequence variant, missense variant
rs879255264 TCT>- Not-provided, pathogenic Coding sequence variant, inframe deletion, non coding transcript variant
rs1064793383 G>A Likely-pathogenic Intron variant, coding sequence variant, missense variant
rs1064796723 T>A Likely-pathogenic Intron variant, coding sequence variant, missense variant
rs1131691404 A>T Likely-pathogenic Non coding transcript variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT003546 hsa-miR-204-5p Luciferase reporter assay, Western blot 20713703
MIRT024859 hsa-miR-215-5p Microarray 19074876
MIRT026864 hsa-miR-192-5p Microarray 19074876
MIRT440253 hsa-miR-218-5p HITS-CLIP 23212916
MIRT440253 hsa-miR-218-5p HITS-CLIP 23212916
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II TAS 10764806
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 10764806
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601740 7001 ENSG00000134138
Protein
UniProt ID O14770
Protein name Homeobox protein Meis2 (Meis1-related protein 1)
Protein 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 activ
PDB 3K2A , 4XRM , 5BNG , 5EG0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16493 Meis_PKNOX_N 110 194 N-terminal of Homeobox Meis and PKNOX1 Family
PF05920 Homeobox_KN 294 333 Homeobox KN domain Family
Tissue specificity TISSUE SPECIFICITY: Expressed in various tissues. Expressed at high level in the lymphoid organs of hematopoietic tissues. Also expressed in some regions of the brain, such as the putamen.
Sequence
MAQRYDELPHYGGMDGVGVPASMYGDPHAPRPIPPVHHLNHGPPLHATQHYGAHAPHPNV
MPASMGSAVNDALKRDKDAIYGHPLFPLLALVFEKCELATCTPREPGVAGGDVCSSDSFN
EDIAVFAKQVRAEKPLFSSNPELDNLMIQAIQVLRFHLLELEKVHELCDNFCHRYISCLK
GKMPIDLVIDERDG
SSKSDHEELSGSSTNLADHNPSSWRDHDDATSTHSAGTPGPSSGGH
ASQSGDNSSEQGDGLDNSVASPGTGDDDDPDKDKKRQKKRGIFPKVATNIMRAWLFQHLT
HPYPSEEQKKQLAQDTGLTILQVNNWFINARRR
IVQPMIDQSNRAGFLLDPSVSQGAAYS
PEGQPMGSFVLDGQQHMGIRPAGLQSMPGDYVSQGGPMGMSMAQPSYTPPQMTPHPTQLR
HGPPMHSYLPSHPHHPAMMMHGGPPTHPGMTMSAQSPTMLNSVDPNVGGQVMDIHAQ
Sequence length 477
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Atrial septal defect Atrial Septal Defects rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074
View all (25 more)
Autism Autistic Disorder, Autistic behavior rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
Congenital heart defects Congenital Heart Defects rs267607101, rs121434422, rs387906498, rs397509416, rs587777371, rs587777372, rs587777374, rs367537998, rs797044882, rs886041730, rs768027510, rs1064793873, rs1555447012, rs1554263268, rs1554263321
View all (13 more)
30055086
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Unknown
Disease term Disease name Evidence References Source
Neurodevelopmental Disorders neurodevelopmental disorder GenCC
Breast Cancer Breast Cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Associations from Text Mining
Disease Name Relationship Type References
Alcohol Related Disorders Associate 30291340
Alzheimer Disease Associate 30584014
Attention Deficit and Disruptive Behavior Disorders Associate 29322350
Autoimmune Diseases of the Nervous System Associate 39615603
Carcinogenesis Associate 25210800
Cleft Palate Associate 30291340, 39789493
Cognition Disorders Associate 39615603
Developmental Disabilities Associate 30291340, 37372421, 39789493
Facial Dysmorphism with Multiple Malformations Associate 39789493
Genetic Diseases Inborn Associate 39789493