Details for: GBX2

Gene ID: 2637

Symbol: GBX2

Ensembl ID: ENSG00000168505

Description: gastrulation brain homeobox 2

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: progenitor cell (CL0011026)
    Fold Change: 4.71
    Marker Score: 30380
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 2.46
    Marker Score: 2477
  • Cell Name: conventional dendritic cell (CL0000990)
    Fold Change: 2.2
    Marker Score: 1518
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.38
    Marker Score: 876
  • Cell Name: monocyte (CL0000576)
    Fold Change: 1.34
    Marker Score: 1738
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.16
    Marker Score: 7693
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.05
    Marker Score: 803
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.05
    Marker Score: 1991
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71821
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48046
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30407
  • Cell Name: natural killer cell (CL0000623)
    Fold Change: 0.97
    Marker Score: 1255
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.96
    Marker Score: 2427
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5355
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2743
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5288
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.82
    Marker Score: 12904
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.79
    Marker Score: 1287
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 712
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 401
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.77
    Marker Score: 506
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.76
    Marker Score: 1537
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.71
    Marker Score: 181
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.65
    Marker Score: 515
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.61
    Marker Score: 3642
  • Cell Name: neutrophil (CL0000775)
    Fold Change: 0.6
    Marker Score: 366
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.57
    Marker Score: 151
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.56
    Marker Score: 236
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.5
    Marker Score: 300
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.5
    Marker Score: 480
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.47
    Marker Score: 281
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.44
    Marker Score: 468
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.44
    Marker Score: 249
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.43
    Marker Score: 883.5
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.43
    Marker Score: 203
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.42
    Marker Score: 186
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.42
    Marker Score: 730
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: 0.41
    Marker Score: 256
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.38
    Marker Score: 221
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.37
    Marker Score: 376
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.35
    Marker Score: 203
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.29
    Marker Score: 364
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.28
    Marker Score: 112.5
  • Cell Name: malignant cell (CL0001064)
    Fold Change: 0.27
    Marker Score: 3665
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.24
    Marker Score: 207
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 0.23
    Marker Score: 419
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: 0.22
    Marker Score: 119
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.18
    Marker Score: 175
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.17
    Marker Score: 53
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.17
    Marker Score: 87
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.16
    Marker Score: 417
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 0.14
    Marker Score: 92
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.13
    Marker Score: 45
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.13
    Marker Score: 183
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.11
    Marker Score: 28
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.11
    Marker Score: 113
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.11
    Marker Score: 130
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: 0.1
    Marker Score: 536
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.1
    Marker Score: 398.5
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.1
    Marker Score: 201
  • Cell Name: gut endothelial cell (CL0000131)
    Fold Change: 0.09
    Marker Score: 33
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.09
    Marker Score: 149
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 0.09
    Marker Score: 28
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.09
    Marker Score: 202
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.09
    Marker Score: 174
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.09
    Marker Score: 31
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.08
    Marker Score: 21.5
  • Cell Name: vascular associated smooth muscle cell (CL0000359)
    Fold Change: 0.08
    Marker Score: 38
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.08
    Marker Score: 63
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 0.08
    Marker Score: 27
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.08
    Marker Score: 126
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.07
    Marker Score: 22
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.07
    Marker Score: 20
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.06
    Marker Score: 115
  • Cell Name: endothelial cell of artery (CL1000413)
    Fold Change: 0.06
    Marker Score: 26
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.06
    Marker Score: 20
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.06
    Marker Score: 62
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.06
    Marker Score: 55
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.05
    Marker Score: 20
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.05
    Marker Score: 185
  • Cell Name: leukocyte (CL0000738)
    Fold Change: 0.05
    Marker Score: 29
  • Cell Name: mesothelial cell (CL0000077)
    Fold Change: 0.05
    Marker Score: 20
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.05
    Marker Score: 206
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: 0.05
    Marker Score: 19
  • Cell Name: inhibitory motor neuron (CL0008015)
    Fold Change: 0.05
    Marker Score: 23
  • Cell Name: T cell (CL0000084)
    Fold Change: 0.05
    Marker Score: 81
  • Cell Name: amacrine cell (CL0000561)
    Fold Change: 0.05
    Marker Score: 150
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.05
    Marker Score: 21
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.05
    Marker Score: 31
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 0.04
    Marker Score: 22
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.04
    Marker Score: 21
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.04
    Marker Score: 29
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.04
    Marker Score: 53
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.04
    Marker Score: 46
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: 0.04
    Marker Score: 28
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 0.04
    Marker Score: 38
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 0.04
    Marker Score: 21
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.04
    Marker Score: 25
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: 0.04
    Marker Score: 23
  • Cell Name: early promyelocyte (CL0002154)
    Fold Change: 0.04
    Marker Score: 29

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Other Information

**Key characteristics:** * The GBX2 gene is a homeobox gene, which are a family of transcription factors that are involved in the development of the nervous system. * It is expressed in a variety of cell types, including progenitor cells, blood vessel endothelial cells, and neural crest cells. * The protein encoded by GBX2 is a transcription factor that is essential for the specification of the neural plate border. * Mutations in the GBX2 gene have been linked to a number of human disorders, including autism and intellectual disability. **Pathways and functions:** * GBX2 is involved in a variety of pathways, including axon guidance, branching, and neural tube formation. * It is also involved in the specification of the neural plate border. * The protein encoded by GBX2 interacts with other transcription factors to regulate the expression of genes involved in neural development. **Clinical significance:** * Mutations in the GBX2 gene have been linked to a number of human disorders, including autism and intellectual disability. * Gene therapy approaches targeting GBX2 have been investigated as a treatment for these disorders. **Additional information:** * The GBX2 gene is located on chromosome 17q21.1. * It is a large gene that encodes a protein of approximately 1,200 amino acids. * The GBX2 protein is a transcription factor that is expressed in a variety of cell types. * It is a key regulator of neural development.

Genular Protein ID: 2624618214

Symbol: GBX2_HUMAN

Name: Homeobox protein GBX-2

UniProtKB Accession Codes:

P52951 B2RPH7 O43833 Q53RX5 Q9Y5Y1

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 7 EPD 1 Ensembl 1 ExpressionAtlas 1 GO 23 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PIR 1 PRINTS 1 PRO 1 PROSITE 2 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 2 RefSeq 1 SAM 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 8838315

Title: Characterization and sequence analysis of the human homeobox-containing gene GBX2.

PubMed ID: 8838315

DOI: 10.1006/geno.1996.0056

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 7903253

Title: The HOX complex neighbored by the EVX gene, as well as two other homeobox-containing genes, the GBX-class and the EN-class, are located on the same chromosomes 2 and 7 in humans.

PubMed ID: 7903253

DOI: 10.1016/0014-5793(93)81620-f

Sequence Information:

  • Length: 348
  • Mass: 37348
  • Checksum: 5D31EA57B0CB07C0
  • Sequence:
    • MSAAFPPSLM MMQRPLGSST AFSIDSLIGS PPQPSPGHFV YTGYPMFMPY RPVVLPPPPP 
PPPALPQAAL QPALPPAHPH HQIPSLPTGF CSSLAQGMAL TSTLMATLPG GFSASPQHQE 
AAAARKFAPQ PLPGGGNFDK AEALQADAED GKGFLAKEGS LLAFSAAETV QASLVGAVRG 
QGKDESKVED DPKGKEESFS LESDVDYSSD DNLTGQAAHK EEDPGHALEE TPPSSGAAGS 
TTSTGKNRRR RTAFTSEQLL ELEKEFHCKK YLSLTERSQI AHALKLSEVQ VKIWFQNRRA 
KWKRVKAGNA NSKTGEPSRN PKIVVPIPVH VSRFAIRSQH QQLEQARP

Genular Protein ID: 3385755257

Symbol: F8VY47_HUMAN

Name: N/A

UniProtKB Accession Codes:

F8VY47

Database IDs:

ARBA 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CTD 1 DNASU 1 EMBL 1 EPD 1 Ensembl 2 ExpressionAtlas 1 GO 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 InterPro 1 MaxQB 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 2 Proteomes 2 RefSeq 1 SAM 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

Sequence Information:

  • Length: 222
  • Mass: 23039
  • Checksum: 966F144B70B35BAC
  • Sequence:
    • MSAAFPPSLM MMQRPLGSST AFSIDSLIGS PPQPSPGHFV YTGYPMFMPY RPVVLPPPPP 
PPPALPQAAL QPALPPAHPH HQIPSLPTGF CSSLAQGMAL TSTLMATLPG GFSASPQHQE 
AAAARKFAPQ PLPGGGNFDK AEALQADAED GKGFLAKEGS LLAFSAAETV QASLGRLCRS 
AVTWGSGRGC PRARERRVKG GRRPEGQGGE LLAGERCGLQ LG

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.