GBX2 (gastrulation brain homeobox 2)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2637
Gene name Gene Name - the full gene name approved by the HGNC.
Gastrulation brain homeobox 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GBX2
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q37.2
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(63)
miRTarBase ID miRNA Experiments Reference
MIRT017008 hsa-miR-335-5p Microarray 18185580
MIRT616978 hsa-miR-214-5p HITS-CLIP 23824327
MIRT612994 hsa-miR-141-5p HITS-CLIP 23824327
MIRT612993 hsa-miR-6887-3p HITS-CLIP 23824327
MIRT612992 hsa-miR-6795-3p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(25)
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA 21873635
GO:0000979 Function RNA polymerase II core promoter sequence-specific DNA binding IEA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
601135 4186 ENSG00000168505
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID P52951
Protein name Homeobox protein GBX-2 (Gastrulation and brain-specific homeobox protein 2)
Protein function May act as a transcription factor for cell pluripotency and differentiation in the embryo.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00046 Homeodomain 248 → 304 Homeodomain Domain
Sequence 
MSAAFPPSLMMMQRPLGSSTAFSIDSLIGSPPQPSPGHFVYTGYPMFMPYRPVVLPPPPP
PPPALPQAALQPALPPAHPHHQIPSLPTGFCSSLAQGMALTSTLMATLPGGFSASPQHQE
AAAARKFAPQPLPGGGNFDKAEALQADAEDGKGFLAKEGSLLAFSAAETVQASLVGAVRG
QGKDESKVEDDPKGKEESFSLESDVDYSSDDNLTGQAAHKEEDPGHALEETPPSSGAAGS
TTSTGKNRRRRTAFTSEQLLELEKEFHCKKYLSLTERSQIAHALKLSEVQVKIWFQNRRA
KWKRVKAGNANSKTGEPSRNPKIVVPIPVHVSRFAIRSQHQQLEQARP
Sequence length 348
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal
Disease term Disease name dbSNP ID References
Amyotrophic lateral sclerosis Amyotrophic Lateral Sclerosis, Familial rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733
View all (171 more)		 11796754
Lateral sclerosis AMYOTROPHIC LATERAL SCLEROSIS 1, Amyotrophic Lateral Sclerosis, Sporadic rs386134181, rs386134176, rs386134174, rs386134184, rs386134178, rs1693780539, rs1574698048 11796754
Show/Hide Text Mining Associations (8)
Associations from Text Mining
Disease Name Relationship Type References
Breast Neoplasms Associate 30223390
Carcinoma Hepatocellular Associate 36222159
Glioblastoma Associate 29016808
Glioma Associate 32618493
Neoplasms Inhibit 29016808
Neoplasms Associate 30223390
Parkinson Disease Associate 33319795
Prostatic Neoplasms Associate 30223390