Details for: GCNT2

Gene ID: 2651

Gene Type:  Protein-coding  - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.

Symbol: GCNT2

Ensembl ID: ENSG00000111846

Description: glucosaminyl (N-acetyl) transferase 2 (I blood group)

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Associated with

  • Acetylglucosaminyltransferase activity
    (GO:0008375)
  • Glycosaminoglycan biosynthetic process
    (GO:0006024)
  • Golgi apparatus
    (GO:0005794)
  • Golgi membrane
    (GO:0000139)
  • Maintenance of lens transparency
    (GO:0036438)
  • Membrane
    (GO:0016020)
  • Multicellular organism development
    (GO:0007275)
  • N-acetyllactosaminide beta-1,6-n-acetylglucosaminyltransferase activity
    (GO:0008109)
  • Negative regulation of cell-substrate adhesion
    (GO:0010812)
  • Positive regulation of cell migration
    (GO:0030335)
  • Positive regulation of cell population proliferation
    (GO:0008284)
  • Positive regulation of epithelial to mesenchymal transition
    (GO:0010718)
  • Positive regulation of erk1 and erk2 cascade
    (GO:0070374)
  • Positive regulation of heterotypic cell-cell adhesion
    (GO:0034116)
  • Positive regulation of phosphatidylinositol 3-kinase/protein kinase b signal transduction
    (GO:0051897)
  • Post-transcriptional regulation of gene expression
    (GO:0010608)
  • Protein binding
    (GO:0005515)
  • Protein glycosylation
    (GO:0006486)
  • Transforming growth factor beta receptor signaling pathway
    (GO:0007179)

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

  • cardiac muscle cell CL0000746
    CSI 21.11
    rCSI 30.29%
    PRS 59.56
  • choroid plexus epithelial cell CL0000706
    CSI 18.65
    rCSI 30.54%
    PRS 59.09
  • kidney loop of Henle thin ascending limb epithelial cell CL1001107
    CSI 13.23
    rCSI 34.19%
    PRS 64.93
  • lamp5 GABAergic cortical interneuron CL4023011
    CSI 11.76
    rCSI 19.73%
    PRS 51.29
  • melanocyte CL0000148
    CSI 10.75
    rCSI 7.96%
    PRS 62.85
  • sncg GABAergic cortical interneuron CL4023015
    CSI 9.39
    rCSI 15.1%
    PRS 53.18
  • fallopian tube secretory epithelial cell CL4030006
    CSI 9.3
    rCSI 8.95%
    PRS 69.8
  • mononuclear phagocyte CL0000113
    CSI 7.33
    rCSI 16.15%
    PRS 74.19
  • ciliated epithelial cell CL0000067
    CSI 6.65
    rCSI 5.85%
    PRS 58.02
  • mesothelial cell CL0000077
    CSI 6.55
    rCSI 25.61%
    PRS 47.3
  • CD1c-positive myeloid dendritic cell CL0002399
    CSI 6.44
    rCSI 7.78%
    PRS 79.05
  • alveolar macrophage CL0000583
    CSI 5.96
    rCSI 9.82%
    PRS 75.38
  • hematopoietic stem cell CL0000037
    CSI 5.46
    rCSI 3.63%
    PRS 72.91
  • intermediate monocyte CL0002393
    CSI 5.42
    rCSI 8.18%
    PRS 75.19
  • CD8-positive, alpha-beta memory T cell, CD45RO-positive CL0001203
    CSI 5.32
    rCSI 6.45%
    PRS 53.83
  • cardiac endothelial cell CL0010008
    CSI 5.05
    rCSI 20.37%
    PRS 69.45
  • placental villous trophoblast CL2000060
    CSI 5
    rCSI 7.73%
    PRS 68.88
  • respiratory basal cell CL0002633
    CSI 4.92
    rCSI 5.09%
    PRS 75.63
  • epithelial cell of proximal tubule CL0002306
    CSI 4.53
    rCSI 11.07%
    PRS 63.13
  • amacrine cell CL0000561
    CSI 4.41
    rCSI 12.79%
    PRS 59.32
  • inhibitory interneuron CL0000498
    CSI 4.14
    rCSI 9.56%
    PRS 58.24
  • BEST4+ enteroycte CL4030026
    CSI 4
    rCSI 4.98%
    PRS 71.85
  • midzonal region hepatocyte CL0019028
    CSI 3.94
    rCSI 9.25%
    PRS 72.65
  • innate lymphoid cell CL0001065
    CSI 3.84
    rCSI 7.93%
    PRS 69.61
  • epithelial cell of lung CL0000082
    CSI 3.77
    rCSI 3.12%
    PRS 69.99
  • cytotoxic T cell CL0000910
    CSI 3.76
    rCSI 21.54%
    PRS 77.34
  • intestinal crypt stem cell of small intestine CL0009017
    CSI 3.73
    rCSI 10.06%
    PRS 76.36
  • periportal region hepatocyte CL0019026
    CSI 3.69
    rCSI 14.36%
    PRS 72.47
  • CD14-positive monocyte CL0001054
    CSI 3.63
    rCSI 4.52%
    PRS 80.6
  • colon epithelial cell CL0011108
    CSI 3.53
    rCSI 3.7%
    PRS 66.98
  • ionocyte CL0005006
    CSI 3.25
    rCSI 3.48%
    PRS 70.43
  • hepatocyte CL0000182
    CSI 3.24
    rCSI 5.8%
    PRS 69.47
  • interneuron CL0000099
    CSI 3.05
    rCSI 6.13%
    PRS 59.3
  • epithelial cell of lower respiratory tract CL0002632
    CSI 2.99
    rCSI 2.32%
    PRS 73.24
  • rod bipolar cell CL0000751
    CSI 2.94
    rCSI 5.29%
    PRS 63.19
  • duct epithelial cell CL0000068
    CSI 2.92
    rCSI 4.27%
    PRS 74.9
  • brush cell of tracheobronchial tree CL0002075
    CSI 2.82
    rCSI 8.36%
    PRS 79.74
  • Kupffer cell CL0000091
    CSI 2.7
    rCSI 6.17%
    PRS 70.7
  • luminal epithelial cell of mammary gland CL0002326
    CSI 2.69
    rCSI 4.89%
    PRS 83.44
  • kidney interstitial alternatively activated macrophage CL1000695
    CSI 2.67
    rCSI 6.96%
    PRS 70.43
  • lung secretory cell CL1000272
    CSI 2.66
    rCSI 6.59%
    PRS 68.82
  • kidney loop of Henle thin descending limb epithelial cell CL1001111
    CSI 2.66
    rCSI 3.77%
    PRS 66.24
  • epithelial cell CL0000066
    CSI 2.61
    rCSI 4%
    PRS 62.58
  • blood vessel endothelial cell CL0000071
    CSI 2.6
    rCSI 5.4%
    PRS 67.12
  • basal cell of epidermis CL0002187
    CSI 2.6
    rCSI 4.61%
    PRS 41.66
  • vascular leptomeningeal cell CL4023051
    CSI 2.46
    rCSI 4.31%
    PRS 62.52
  • hematopoietic multipotent progenitor cell CL0000837
    CSI 2.31
    rCSI 5.56%
    PRS 85.93
  • melanocyte of skin CL1000458
    CSI 2.23
    rCSI 3.05%
    PRS 38.79
  • cerebellar granule cell CL0001031
    CSI 2.22
    rCSI 3.26%
    PRS 63.18
  • renal interstitial pericyte CL1001318
    CSI 2.18
    rCSI 6.01%
    PRS 65.04
  • colonocyte CL1000347
    CSI 2.15
    rCSI 3.08%
    PRS 72.35
  • retinal blood vessel endothelial cell CL0002585
    CSI 2.15
    rCSI 3.43%
    PRS 74.27
  • endocardial cell CL0002350
    CSI 2.1
    rCSI 10.07%
    PRS 67.99
  • parietal epithelial cell CL1000452
    CSI 2.09
    rCSI 5.6%
    PRS 61.03
  • conjunctival epithelial cell CL1000432
    CSI 2
    rCSI 3.05%
    PRS 70.73
  • CD14-low, CD16-positive monocyte CL0002396
    CSI 2
    rCSI 1.54%
    PRS 71.76
  • ciliated cell CL0000064
    CSI 1.99
    rCSI 3.22%
    PRS 65.72
  • multi-ciliated epithelial cell CL0005012
    CSI 1.96
    rCSI 1.96%
    PRS 63.52
  • VIP GABAergic cortical interneuron CL4023016
    CSI 1.96
    rCSI 2.34%
    PRS 51.09
  • myeloid leukocyte CL0000766
    CSI 1.95
    rCSI 1.8%
    PRS 71.73
  • kidney collecting duct intercalated cell CL1001432
    CSI 1.95
    rCSI 13.92%
    PRS 69.29
  • cerebral cortex endothelial cell CL1001602
    CSI 1.92
    rCSI 3.32%
    PRS 60.49
  • airway submucosal gland duct basal cell CL4033024
    CSI 1.77
    rCSI 11.3%
    PRS 78.6
  • ciliated columnar cell of tracheobronchial tree CL0002145
    CSI 1.7
    rCSI 3.88%
    PRS 65.29
  • retinal pigment epithelial cell CL0002586
    CSI 1.69
    rCSI 3.36%
    PRS 66.66
  • enteroendocrine cell CL0000164
    CSI 1.68
    rCSI 2.3%
    PRS 71.08
  • renal beta-intercalated cell CL0002201
    CSI 1.65
    rCSI 3.94%
    PRS 70.45
  • lung ciliated cell CL1000271
    CSI 1.6
    rCSI 1.86%
    PRS 61
  • enteroendocrine cell of small intestine CL0009006
    CSI 1.48
    rCSI 3.26%
    PRS 80.96
  • pulmonary alveolar type 2 cell CL0002063
    CSI 1.47
    rCSI 2.28%
    PRS 76.48
  • intestinal tuft cell CL0019032
    CSI 1.46
    rCSI 2.22%
    PRS 74.46
  • luminal cell of prostate epithelium CL0002340
    CSI 1.43
    rCSI 7.67%
    PRS 79.87
  • kidney distal convoluted tubule epithelial cell CL1000849
    CSI 1.4
    rCSI 14.87%
    PRS 67.38
  • kidney connecting tubule epithelial cell CL1000768
    CSI 1.36
    rCSI 3.44%
    PRS 59.66
  • Hofbauer cell CL3000001
    CSI 1.32
    rCSI 2.5%
    PRS 80.09
  • megakaryocyte-erythroid progenitor cell CL0000050
    CSI 1.26
    rCSI 1.14%
    PRS 67.34
  • glandular epithelial cell CL0000150
    CSI 1.25
    rCSI 3.3%
    PRS 85.34
  • neuroendocrine cell CL0000165
    CSI 1.23
    rCSI 4.74%
    PRS 82.05
  • endothelial cell of arteriole CL1000412
    CSI 1.21
    rCSI 6.71%
    PRS 83.07
  • paneth cell of epithelium of small intestine CL1000343
    CSI 1.16
    rCSI 3.25%
    PRS 79.62
  • GABAergic neuron CL0000617
    CSI 1.16
    rCSI 3.87%
    PRS 54.59
  • intestinal epithelial cell CL0002563
    CSI 1.03
    rCSI 1.08%
    PRS 67.77
  • caudal ganglionic eminence derived cortical interneuron CL4023064
    CSI 1.03
    rCSI 1.82%
    PRS 50.38
  • blood vessel smooth muscle cell CL0019018
    CSI 0.95
    rCSI 7.72%
    PRS 63.59
  • glial cell CL0000125
    CSI 0.95
    rCSI 3.61%
    PRS 60.57
  • helper T cell CL0000912
    CSI 0.94
    rCSI 1.33%
    PRS 72.7
  • regular ventricular cardiac myocyte CL0002131
    CSI 0.94
    rCSI 5.85%
    PRS 61.42
  • P/D1 enteroendocrine cell CL0002268
    CSI 0.83
    rCSI 4.51%
    PRS 81.87
  • pulmonary alveolar type 1 cell CL0002062
    CSI 0.72
    rCSI 4.18%
    PRS 67.79
  • enterocyte of epithelium of large intestine CL0002071
    CSI 0.71
    rCSI 3.74%
    PRS 77.79
  • kidney loop of Henle thick ascending limb epithelial cell CL1001106
    CSI 0.66
    rCSI 5.7%
    PRS 65.94
  • type EC enteroendocrine cell CL0000577
    CSI 0.61
    rCSI 2.17%
    PRS 76.74
  • enterocyte of epithelium of small intestine CL1000334
    CSI 0.33
    rCSI 5.17%
    PRS 82.86
  • respiratory goblet cell CL0002370
    CSI 0.31
    rCSI 3.33%
    PRS 82.12

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.
Network Configuration

Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.

Comma-separated if multiple.
Comma-separated if multiple.
Legend:
  • Query Gene
  • Node Color (Target Cell CSI, relative to current network):
    • Very High
    • High
    • Medium
    • Low
    • Very Low
    • CSI N/A
  • Node Size: Proportional to Target Cell CSI magnitude
  • STRING PPI Edge
  • Shared Pathway Edge (ONTOLOGY)

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Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

## Summary [GCNT2](/details-gene/2651), or glucosaminyl (N-acetyl) transferase 2, encodes the I-branching beta-1,6-N-acetylglucosaminyltransferase, a key enzyme in the biosynthesis of the I blood group antigen ([Link](https://pubmed.ncbi.nlm.nih.gov/8449405/)). This Golgi-resident protein plays a fundamental role in protein glycosylation ([GO:0006486](https://www.ebi.ac.uk/QuickGO/term/GO:0006486)), a process essential for proper protein folding, stability, and function. **Overall**, expression data reveals that [GCNT2](/details-gene/2651) is a gene of broad significance, showing high expression not only in hematopoietic cells consistent with its blood group function but also in diverse and critical cell types such as [cardiac muscle cell](/details-cell/CL0000746), [choroid plexus epithelial cell](/details-cell/CL0000706), and various neuronal and epithelial cells. Clinically, mutations in [GCNT2](/details-gene/2651) are associated with the adult i phenotype and congenital cataracts ([OMIM: 600429](https://omim.org/entry/600429)), highlighting its importance in developmental processes ([Link](https://doi.org/10.1182/blood-2002-09-2693)). ## Cellular Roles and Expression Landscape The expression profile of [GCNT2](/details-gene/2651) indicates a multifaceted role extending far beyond its canonical function in erythropoiesis. The gene exhibits the highest significance in [cardiac muscle cell](/details-cell/CL0000746) (CSI: 21.11), suggesting a critical, yet not fully understood, role in cardiac physiology. Its high expression in secretory and barrier-forming epithelial cells, including [choroid plexus epithelial cell](/details-cell/CL0000706), [kidney loop of Henle thin ascending limb epithelial cell](/details-cell/CL1001107), and [fallopian tube secretory epithelial cell](/details-cell/CL4030006), points towards a function in modifying secreted proteins or cell-surface molecules involved in transport and barrier integrity. Furthermore, [GCNT2](/details-gene/2651) shows notable significance in specific neuronal subtypes, such as [lamp5 GABAergic cortical interneuron](/details-cell/CL4023011) and [sncg GABAergic cortical interneuron](/details-cell/CL4023015), suggesting a potential role for I-branched glycans in neuronal function or connectivity. As expected from its role in the Ii blood group system, the gene is also significantly expressed across several immune lineages, including [mononuclear phagocyte](/details-cell/CL0000113), [CD1c-positive myeloid dendritic cell](/details-cell/CL0002399), [alveolar macrophage](/details-cell/CL0000583), and [hematopoietic stem cell](/details-cell/CL0000037). This broad but distinct expression pattern suggests that the glycosylation patterns controlled by [GCNT2](/details-gene/2651) are integral to the specialized functions of a wide array of cell types. ## Pathways and Molecular Function Functionally, [GCNT2](/details-gene/2651) is an acetylglucosaminyltransferase located in the Golgi apparatus ([GO:0005794](https://www.ebi.ac.uk/QuickGO/term/GO:0005794)) that catalyzes the formation of beta-1,6-N-acetylglucosamine linkages, creating the I-antigen on N-acetyllactosamine chains ([Link](https://doi.org/10.1182/blood-2002-09-2838)). This activity is central to protein glycosylation and the biosynthesis of glycosaminoglycans ([GO:0006024](https://www.ebi.ac.uk/QuickGO/term/GO:0006024)). Beyond this primary enzymatic role, annotations suggest [GCNT2](/details-gene/2651) is involved in regulating critical cellular behaviors. It is implicated in the positive regulation of cell migration ([GO:0030335](https://www.ebi.ac.uk/QuickGO/term/GO:0030335)), proliferation ([GO:0008284](https://www.ebi.ac.uk/QuickGO/term/GO:0008284)), and epithelial to mesenchymal transition ([GO:0010718](https://www.ebi.ac.uk/QuickGO/term/GO:0010718)). These functions are likely mediated through its influence on key signaling pathways, including the transforming growth factor beta (TGF-beta) receptor signaling pathway ([GO:0007179](https://www.ebi.ac.uk/QuickGO/term/GO:0007179)) and the PI3K/Akt pathway ([GO:0051897](https://www.ebi.ac.uk/QuickGO/term/GO:0051897)). The established genetic link between [GCNT2](/details-gene/2651) deficiency and congenital cataracts is biologically supported by its annotated role in the maintenance of lens transparency ([GO:0036438](https://www.ebi.ac.uk/QuickGO/term/GO:0036438)) ([Link](https://doi.org/10.1534/g3.117.300109)). ## Research Directions The diverse expression pattern and functional annotations of [GCNT2](/details-gene/2651) point to several compelling areas for future investigation. Its role appears to extend well beyond hematology into organ development, tissue homeostasis, and pathology. **Proposed Hypotheses:** 1. Given its exceptionally high significance in [cardiac muscle cell](/details-cell/CL0000746), [GCNT2](/details-gene/2651)-mediated glycosylation of cell surface proteins (e.g., ion channels, adhesion molecules) is likely essential for maintaining the structural and electrical integrity of the myocardium. Its dysregulation may contribute to the pathogenesis of certain inherited or acquired cardiomyopathies. 2. The high expression of [GCNT2](/details-gene/2651) in [choroid plexus epithelial cell](/details-cell/CL0000706) suggests it plays a role in regulating the composition of cerebrospinal fluid or the function of the blood-CSF barrier by modifying key transporters or receptors. 3. Based on its role in regulating cell proliferation and migration pathways (TGF-beta, PI3K/Akt), aberrant [GCNT2](/details-gene/2651) expression or activity may promote tumorigenesis or metastasis in epithelial-derived cancers by altering cell adhesion and signaling receptor glycosylation. **Experimental Approach:** To test the hypothesis regarding the role of [GCNT2](/details-gene/2651) in cardiac muscle function, one could utilize an in vitro model of human induced pluripotent stem cell-derived cardiomyocytes (iPSC-CMs). CRISPR-Cas9-mediated knockout of [GCNT2](/details-gene/2651) in iPSCs followed by differentiation into cardiomyocytes would be the initial step. The resulting [GCNT2](/details-gene/2651)-null cardiomyocytes could then be compared to isogenic controls, assessing for changes in contractile function using video microscopy and calcium imaging, electrical activity via multi-electrode arrays, and cell-cell adhesion through immunofluorescence of junctional proteins and atomic force microscopy. A subsequent glycoproteomic analysis could identify the specific cardiac proteins whose glycosylation state is dependent on [GCNT2](/details-gene/2651). **Therapeutic Potential:** As a glycosyltransferase, [GCNT2](/details-gene/2651) is a potentially druggable enzyme. However, its high expression in critical tissues like the heart suggests that systemic inhibition could lead to significant toxicity. If specific cancer types demonstrate an addiction to [GCNT2](/details-gene/2651)-mediated glycosylation for their growth or metastasis, a highly targeted inhibitor could have therapeutic value. Conversely, for loss-of-function diseases like congenital cataracts, a therapeutic strategy might involve restoring its function. This could be explored through gene therapy approaches or the development of small molecule chaperones that stabilize the mutant protein and recover partial enzymatic activity.

Genular Protein ID: 3534698835

Symbol: GNT2A_HUMAN

Name: I-branching enzyme

UniProtKB Accession Codes:

Q8N0V5 Q06430 Q5T4J1 Q5W0E9 Q6T5E5 Q8NFS9

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CAZy 1 CCDS 3 CTD 1 ChEBI 5 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EC 2 EMBL 25 Ensembl 7 ExpressionAtlas 1 GO 18 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 4 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIR 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 RNAct 1 RefSeq 4 Rhea 1 SMR 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8449405

Title: Expression of the developmental I antigen by a cloned human cDNA encoding a member of a beta-1,6-N-acetylglucosaminyltransferase gene family.

PubMed ID: 8449405

DOI: 10.1101/gad.7.3.468

PubMed ID: 7579796

Title: Genomic organization of core 2 and I branching beta-1,6-N-acetylglucosaminyltransferases. Implication for evolution of the beta-1,6-N-acetylglucosaminyltransferase gene family.

PubMed ID: 7579796

DOI: 10.1093/glycob/5.4.417

PubMed ID: 12424189

Title: The molecular genetics of the human I locus and molecular background explain the partial association of the adult i phenotype with congenital cataracts.

PubMed ID: 12424189

DOI: 10.1182/blood-2002-09-2693

PubMed ID: 12468428

Title: A novel I-branching beta-1,6-N-acetylglucosaminyltransferase involved in human blood group I antigen expression.

PubMed ID: 12468428

DOI: 10.1182/blood-2002-09-2838

PubMed ID: 14672974

Title: Multiple variable first exons: a mechanism for cell- and tissue-specific gene regulation.

PubMed ID: 14672974

DOI: 10.1101/gr.1225204

PubMed ID: 11230166

Title: Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.

PubMed ID: 11230166

DOI: 10.1101/gr.gr1547r

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

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: 11739194

Title: Molecular basis of the adult i phenotype and the gene responsible for the expression of the human blood group I antigen.

PubMed ID: 11739194

DOI: 10.1182/blood.v98.13.3840

PubMed ID: 28839118

Title: High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia.

PubMed ID: 28839118

DOI: 10.1534/g3.117.300109

PubMed ID: 29914532

Title: Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract.

PubMed ID: 29914532

DOI: 10.1186/s13023-018-0828-0

Sequence Information:

  • Length: 402
  • Mass: 45873
  • Checksum: FCA6AE905D78D7D5
  • Sequence:
    • MMGSWKHCLF SASLISALIF VFVYNTELWE NKRFLRAALS NASLLAEACH QIFEGKVFYP 
TENALKTTLD EATCYEYMVR SHYVTETLSE EEAGFPLAYT VTIHKDFGTF ERLFRAIYMP 
QNVYCVHLDQ KATDAFKGAV KQLLSCFPNA FLASKKESVV YGGISRLQAD LNCLEDLVAS 
EVPWKYVINT CGQDFPLKTN REIVQYLKGF KGKNITPGVL PPDHAVGRTK YVHQELLNHK 
NSYVIKTTKL KTPPPHDMVI YFGTAYVALT RDFANFVLQD QLALDLLSWS KDTYSPDEHF 
WVTLNRIPGV PGSMPNASWT GNLRAIKWSD MEDRHGGCHG HYVHGICIYG NGDLKWLVNS 
PSLFANKFEL NTYPLTVECL ELRHRERTLN QSETAIQPSW YF