Details for: SIX6

Gene ID: 4990

Symbol: SIX6

Ensembl ID: ENSG00000184302

Description: SIX homeobox 6

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 6.0959
    Cell Significance Index: 70.5800
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 5.4051
    Cell Significance Index: 75.9200
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 2.1428
    Cell Significance Index: 34.7100
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 1.7805
    Cell Significance Index: 30.4400
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 1.4761
    Cell Significance Index: 19.1000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.9705
    Cell Significance Index: 54.4600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.9636
    Cell Significance Index: 110.4000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.6483
    Cell Significance Index: 34.0400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.5081
    Cell Significance Index: 376.4000
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.4049
    Cell Significance Index: 85.2800
  • Cell Name: progenitor cell (CL0011026)
    Fold Change: 0.1647
    Cell Significance Index: 1.7500
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.1199
    Cell Significance Index: 0.9900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0927
    Cell Significance Index: 5.8400
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.0678
    Cell Significance Index: 42.3400
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.0524
    Cell Significance Index: 0.6500
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0200
    Cell Significance Index: 2.5700
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 0.0156
    Cell Significance Index: 0.1200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0086
    Cell Significance Index: 5.4400
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: 0.0012
    Cell Significance Index: 0.1400
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.0002
    Cell Significance Index: 0.1100
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0001
    Cell Significance Index: -0.0200
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0019
    Cell Significance Index: -0.1000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0039
    Cell Significance Index: -7.2500
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0079
    Cell Significance Index: -0.3300
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.0122
    Cell Significance Index: -0.2100
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.0137
    Cell Significance Index: -0.2700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0154
    Cell Significance Index: -7.0100
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: -0.0154
    Cell Significance Index: -0.1700
  • Cell Name: mesothelial cell (CL0000077)
    Fold Change: -0.0259
    Cell Significance Index: -0.3200
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: -0.0328
    Cell Significance Index: -0.2000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0359
    Cell Significance Index: -7.2100
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.0419
    Cell Significance Index: -0.5000
  • Cell Name: interstitial cell of Cajal (CL0002088)
    Fold Change: -0.0471
    Cell Significance Index: -0.4400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0484
    Cell Significance Index: -7.0400
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: -0.0629
    Cell Significance Index: -0.8200
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: -0.0649
    Cell Significance Index: -0.8900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.1186
    Cell Significance Index: -5.5300
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: -0.1354
    Cell Significance Index: -1.6900
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: -0.1378
    Cell Significance Index: -1.4400
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.1448
    Cell Significance Index: -3.6900
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.1492
    Cell Significance Index: -1.8600
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.1679
    Cell Significance Index: -4.5700
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.1751
    Cell Significance Index: -2.2100
  • Cell Name: mast cell (CL0000097)
    Fold Change: -0.1793
    Cell Significance Index: -2.3600
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.1850
    Cell Significance Index: -3.6100
  • Cell Name: pericyte (CL0000669)
    Fold Change: -0.1985
    Cell Significance Index: -2.3800
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: -0.2042
    Cell Significance Index: -2.0200
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.2050
    Cell Significance Index: -7.1800
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.2083
    Cell Significance Index: -6.8200
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.2159
    Cell Significance Index: -6.1600
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.2165
    Cell Significance Index: -6.9000
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.2259
    Cell Significance Index: -7.8500
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.2396
    Cell Significance Index: -2.8000
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.2425
    Cell Significance Index: -6.9500
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.2502
    Cell Significance Index: -4.9900
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.2504
    Cell Significance Index: -7.9200
  • Cell Name: pancreatic epsilon cell (CL0005019)
    Fold Change: -0.2536
    Cell Significance Index: -2.3500
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.2660
    Cell Significance Index: -4.2200
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.2686
    Cell Significance Index: -7.9100
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.2730
    Cell Significance Index: -6.6600
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: -0.2759
    Cell Significance Index: -2.9100
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.2766
    Cell Significance Index: -6.9000
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.2795
    Cell Significance Index: -7.4900
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: -0.2902
    Cell Significance Index: -3.5300
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.2940
    Cell Significance Index: -4.2100
  • Cell Name: amacrine cell (CL0000561)
    Fold Change: -0.2986
    Cell Significance Index: -3.7400
  • Cell Name: retina horizontal cell (CL0000745)
    Fold Change: -0.3028
    Cell Significance Index: -3.8000
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.3036
    Cell Significance Index: -3.3000
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.3179
    Cell Significance Index: -7.7000
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.3226
    Cell Significance Index: -6.9700
  • Cell Name: mural cell (CL0008034)
    Fold Change: -0.3294
    Cell Significance Index: -4.0100
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.3306
    Cell Significance Index: -6.9000
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.3424
    Cell Significance Index: -6.8800
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.3510
    Cell Significance Index: -7.4500
  • Cell Name: myoblast (CL0000056)
    Fold Change: -0.3674
    Cell Significance Index: -3.6100
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.3704
    Cell Significance Index: -8.1100
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: -0.3711
    Cell Significance Index: -3.9900
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: -0.3778
    Cell Significance Index: -4.5800
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: -0.3851
    Cell Significance Index: -7.5300
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.3893
    Cell Significance Index: -3.6900
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.3938
    Cell Significance Index: -6.5900
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: -0.3940
    Cell Significance Index: -5.7200
  • Cell Name: adipocyte (CL0000136)
    Fold Change: -0.3983
    Cell Significance Index: -5.3100
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: -0.4078
    Cell Significance Index: -6.5800
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: -0.4191
    Cell Significance Index: -5.4200
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: -0.4238
    Cell Significance Index: -6.3400
  • Cell Name: ON-bipolar cell (CL0000749)
    Fold Change: -0.4346
    Cell Significance Index: -4.9100
  • Cell Name: retinal astrocyte (CL4033015)
    Fold Change: -0.4403
    Cell Significance Index: -4.3100
  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: -0.4427
    Cell Significance Index: -3.9000
  • Cell Name: suprabasal keratinocyte (CL4033013)
    Fold Change: -0.4434
    Cell Significance Index: -7.1300
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: -0.4489
    Cell Significance Index: -3.4600
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.4609
    Cell Significance Index: -7.0000
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: -0.4643
    Cell Significance Index: -6.0600
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: -0.4646
    Cell Significance Index: -4.8500
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.4660
    Cell Significance Index: -6.8800
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: -0.4719
    Cell Significance Index: -6.1800
  • Cell Name: H1 horizontal cell (CL0004217)
    Fold Change: -0.4814
    Cell Significance Index: -6.0500
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.4877
    Cell Significance Index: -6.9300
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: -0.4906
    Cell Significance Index: -7.1500
  • Cell Name: ON parasol ganglion cell (CL4033052)
    Fold Change: -0.4935
    Cell Significance Index: -6.1500

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** SIX6 is a transcription factor that belongs to the Six homeobox gene family, which consists of six members (SIX1-6). SIX6 is specifically expressed in various cell types, including glial cells, erythrocytes, blood vessel endothelial cells, epithelial cells, Mueller cells, goblet cells, megakaryocytes, and hematopoietic stem cells. Its expression is observed in both normal and neoplastic cells, indicating its potential role in tumorigenesis. **Pathways and Functions:** SIX6 is involved in various signaling pathways, including: 1. **Animal organ morphogenesis**: SIX6 regulates the development of various organs, including the eye, through its interaction with other transcription factors and signaling molecules. 2. **Chromatin remodeling**: SIX6 modulates chromatin structure and accessibility, influencing gene expression and cellular differentiation. 3. **RNA polymerase II-specific transcription regulation**: SIX6 interacts with RNA polymerase II to regulate the expression of target genes involved in transcriptional regulation. 4. **Visual perception**: SIX6 is specifically expressed in the retina and plays a crucial role in the development and function of the visual system. **Clinical Significance:** SIX6 has been implicated in various human diseases, including: 1. **Eye disorders**: Mutations in SIX6 have been associated with eye abnormalities, such as coloboma and microphthalmia. 2. **Cancer**: SIX6 is overexpressed in various types of cancer, including leukemia, lymphoma, and solid tumors, suggesting its potential role in tumorigenesis. 3. **Immunological disorders**: SIX6 has been linked to autoimmune diseases, such as rheumatoid arthritis and multiple sclerosis, where it may play a role in regulating immune responses. In conclusion, SIX6 is a multifunctional transcription factor that plays a critical role in various developmental and immunological processes. Its dysregulation has been implicated in various human diseases, highlighting the importance of understanding its mechanisms and potential therapeutic applications. **Implications for Immunology:** The study of SIX6 has significant implications for immunology, particularly in the context of cancer and autoimmune diseases. Further research is needed to elucidate the mechanisms by which SIX6 regulates immune responses and to explore its potential as a therapeutic target. Additionally, the identification of SIX6's role in regulating chromatin structure and transcriptional regulation may provide insights into the development of novel immunotherapies. **Future Directions:** Future studies should aim to: 1. Elucidate the molecular mechanisms underlying SIX6's functions in immunological processes. 2. Investigate the role of SIX6 in regulating immune responses and its potential as a therapeutic target. 3. Explore the therapeutic potential of SIX6 in cancer and autoimmune diseases. By advancing our understanding of SIX6's immunological significance, we can unlock new avenues for the treatment and prevention of human diseases.

Genular Protein ID: 1707349469

Symbol: SIX6_HUMAN

Name: Homeobox protein SIX6

UniProtKB Accession Codes:

O95475 Q6NT42 Q9P1X8

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CPTAC 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 5 Ensembl 1 GO 10 Gene3D 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 RefSeq 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 10381575

Title: Six9 (Optx2), a new member of the Six gene family of transcription factors, is expressed at early stages of vertebrate ocular and pituitary development.

PubMed ID: 10381575

DOI: 10.1016/s0925-4773(99)00017-9

PubMed ID: 10512683

Title: Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies.

PubMed ID: 10512683

DOI: 10.1006/geno.1999.5916

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: 15014171

Title: Human-specific amino acid changes found in 103 protein-coding genes.

PubMed ID: 15014171

DOI: 10.1093/molbev/msh100

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 23167593

Title: Homozygous truncation of SIX6 causes complex microphthalmia in humans.

PubMed ID: 23167593

DOI: 10.1111/cge.12046

PubMed ID: 15266624

Title: Analysis of the developmental SIX6 homeobox gene in patients with anophthalmia/microphthalmia.

PubMed ID: 15266624

DOI: 10.1002/ajmg.a.30126

Sequence Information:

  • Length: 246
  • Mass: 27687
  • Checksum: 5378438C9DE8C597
  • Sequence:
    • MFQLPILNFS PQQVAGVCET LEESGDVERL GRFLWSLPVA PAACEALNKN ESVLRARAIV 
AFHGGNYREL YHILENHKFT KESHAKLQAL WLEAHYQEAE KLRGRPLGPV DKYRVRKKFP 
LPRTIWDGEQ KTHCFKERTR HLLREWYLQD PYPNPSKKRE LAQATGLTPT QVGNWFKNRR 
QRDRAAAAKN RLQQQVLSQG SGRALRAEGD GTPEVLGVAT SPAASLSSKA ATSAISITSS 
DSECDI

Genular Protein ID: 3842135618

Symbol: Q6P051_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q6P051

Database IDs:

ARBA 2 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 GO 5 Gene3D 1 InterPro 3 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 2 PROSITE-ProRule 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 RefSeq 1 RuleBase 1 SAM 1 SMART 1 SUPFAM 1

Citations:

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

Sequence Information:

  • Length: 305
  • Mass: 33730
  • Checksum: E6EA289FB2E69EA7
  • Sequence:
    • PPVGVVRSRP LSHRRHPVVC PAAPIRLINK RLAHSARPAG ICCVSRSGLS ALAAAGTASM 
FQLPILNFSP QQVAGVCETL EESGDVERLG RFLWSLPVAP AACEALNKNE SVLRARAIVA 
FHGGNYRELY HILENHKFTK ESHAKLQALW LEAHYQEAEK LRGRPLGPVD KYRVRKKFPL 
PRTIWDGEQK THCFKERTRH LLREWYLQDP YPNPSKKREL AQATGLTPTQ VGNWFKNRRQ 
RDRAAAAKNR LQQQVLSQGS GRALRAEGDG TPEVLGVATS PAASLSSKAA TSAISITSSD 
SECDI

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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.