Details for: SORD

Gene ID: 6652

Symbol: SORD

Ensembl ID: ENSG00000140263

Description: sorbitol dehydrogenase

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: polychromatophilic erythroblast (CL0000550)
    Fold Change: 88.0130
    Cell Significance Index: -13.6900
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 49.0452
    Cell Significance Index: -12.4400
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 42.5782
    Cell Significance Index: -17.5400
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 34.4855
    Cell Significance Index: -14.0100
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 14.7684
    Cell Significance Index: -14.1000
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 12.4335
    Cell Significance Index: -15.3300
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 5.8532
    Cell Significance Index: -15.6800
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 3.9736
    Cell Significance Index: -15.6800
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 2.2728
    Cell Significance Index: 23.5200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 2.0463
    Cell Significance Index: 406.0900
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.7858
    Cell Significance Index: 107.2100
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.5504
    Cell Significance Index: 80.5400
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.4129
    Cell Significance Index: 23.8000
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.0245
    Cell Significance Index: 27.8900
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.7744
    Cell Significance Index: 53.5600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.6441
    Cell Significance Index: 116.1200
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.6325
    Cell Significance Index: 13.2400
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 0.6138
    Cell Significance Index: 15.6800
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.5850
    Cell Significance Index: 6.3600
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.5657
    Cell Significance Index: 8.3500
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.5500
    Cell Significance Index: 5.0700
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.5087
    Cell Significance Index: 82.7400
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.3706
    Cell Significance Index: 23.9100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.3530
    Cell Significance Index: 10.1700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.3241
    Cell Significance Index: 39.8600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.2929
    Cell Significance Index: 159.9800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.2787
    Cell Significance Index: 7.7900
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.2598
    Cell Significance Index: 6.9500
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2541
    Cell Significance Index: 48.3500
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.2434
    Cell Significance Index: 219.7900
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.2015
    Cell Significance Index: 1.5400
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1925
    Cell Significance Index: 85.1000
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.1911
    Cell Significance Index: 5.1200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.1897
    Cell Significance Index: 14.1400
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.1709
    Cell Significance Index: 3.6400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.1693
    Cell Significance Index: 28.9100
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1543
    Cell Significance Index: 15.2600
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.1479
    Cell Significance Index: 5.1400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1369
    Cell Significance Index: 49.0900
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.1261
    Cell Significance Index: 1.7200
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.1112
    Cell Significance Index: 2.4100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.1045
    Cell Significance Index: 14.3500
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.0787
    Cell Significance Index: 2.0700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0786
    Cell Significance Index: 15.7700
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0714
    Cell Significance Index: 9.1500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0600
    Cell Significance Index: 81.5800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0586
    Cell Significance Index: 2.0600
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: 0.0551
    Cell Significance Index: 6.2900
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.0498
    Cell Significance Index: 3.5200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.0446
    Cell Significance Index: 1.4300
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0363
    Cell Significance Index: 25.0800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0346
    Cell Significance Index: 1.5700
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0048
    Cell Significance Index: 0.5700
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0029
    Cell Significance Index: -5.4900
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: -0.0031
    Cell Significance Index: -0.0200
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0039
    Cell Significance Index: -2.4400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0059
    Cell Significance Index: -4.3800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0060
    Cell Significance Index: -0.7700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0063
    Cell Significance Index: -9.7200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0065
    Cell Significance Index: -4.9200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0079
    Cell Significance Index: -14.5400
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: -0.0097
    Cell Significance Index: -0.0600
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0126
    Cell Significance Index: -9.2200
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0167
    Cell Significance Index: -0.2800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0169
    Cell Significance Index: -10.7100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0173
    Cell Significance Index: -1.3300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0179
    Cell Significance Index: -10.1200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0182
    Cell Significance Index: -1.8600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0241
    Cell Significance Index: -1.3500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0296
    Cell Significance Index: -13.4200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0385
    Cell Significance Index: -8.1000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0387
    Cell Significance Index: -2.6000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0393
    Cell Significance Index: -11.3000
  • Cell Name: early promyelocyte (CL0002154)
    Fold Change: -0.0439
    Cell Significance Index: -0.2800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0441
    Cell Significance Index: -5.1400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0548
    Cell Significance Index: -6.2800
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0581
    Cell Significance Index: -2.7100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0624
    Cell Significance Index: -9.0700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0764
    Cell Significance Index: -3.5900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0773
    Cell Significance Index: -4.0600
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0793
    Cell Significance Index: -6.2800
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.0853
    Cell Significance Index: -1.3000
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0903
    Cell Significance Index: -3.4200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0909
    Cell Significance Index: -5.7300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0991
    Cell Significance Index: -6.0900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1196
    Cell Significance Index: -5.2900
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.1256
    Cell Significance Index: -1.3000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1470
    Cell Significance Index: -15.3100
  • Cell Name: sebaceous gland cell (CL2000021)
    Fold Change: -0.1700
    Cell Significance Index: -0.2200
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -0.1757
    Cell Significance Index: -2.2500
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1784
    Cell Significance Index: -10.9400
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1789
    Cell Significance Index: -9.3200
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.1958
    Cell Significance Index: -2.9500
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.2247
    Cell Significance Index: -4.9200
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.2376
    Cell Significance Index: -5.4900
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: -0.2401
    Cell Significance Index: -3.4400
  • Cell Name: oral mucosa squamous cell (CL1001576)
    Fold Change: -0.2653
    Cell Significance Index: -2.2800
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.2825
    Cell Significance Index: -3.9600
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: -0.2908
    Cell Significance Index: -1.8000
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.2973
    Cell Significance Index: -5.0000

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:** 1. **Enzyme function:** Sorbitol dehydrogenase is a cytosolic enzyme that catalyzes the oxidation of sorbitol to fructose, playing a crucial role in the metabolism of sorbitol. 2. **Gene expression:** The SORD gene is significantly expressed in various cell types, including thyroid follicular cells, prostate epithelial cells, and hepatocytes. 3. **Protein structure:** The SORD protein is a homodimeric enzyme composed of two identical subunits, each containing a catalytic domain. 4. **Subcellular localization:** The SORD enzyme is localized to the cytosol, where it plays a key role in the metabolism of sorbitol. **Pathways and Functions:** 1. **Fructose biosynthesis:** Sorbitol dehydrogenase plays a crucial role in the biosynthesis of fructose from sorbitol, which is an essential step in the metabolism of glucose. 2. **Sorbitol catabolism:** The enzyme is involved in the catabolism of sorbitol, which is a polyol that can accumulate in certain tissues due to genetic disorders. 3. **Carbohydrate metabolism:** Sorbitol dehydrogenase is also involved in the metabolism of other carbohydrates, including glucose and fructose. 4. **Regulation of glucose metabolism:** The enzyme plays a role in regulating glucose metabolism by controlling the levels of sorbitol and fructose in the cell. **Clinical Significance:** 1. **Congenital disorders:** Mutations in the SORD gene have been associated with congenital disorders, including congenital glaucoma and X-linked juvenile diabeties. 2. **Diabetes:** Sorbitol dehydrogenase deficiency has been linked to diabetes mellitus, as the accumulation of sorbitol can lead to hyperglycemia and insulin resistance. 3. **Thyroid disorders:** The SORD gene is also expressed in thyroid follicular cells, and mutations in the gene have been associated with thyroid disorders, including thyroid cancer. 4. **Cancer:** Sorbitol dehydrogenase has been implicated in the development and progression of certain cancers, including prostate cancer and breast cancer. In conclusion, the sorbitol dehydrogenase gene (SORD) plays a crucial role in the metabolism of sorbitol and fructose, and is significantly expressed in various cell types. Mutations in the SORD gene have been associated with congenital disorders, diabetes, thyroid disorders, and cancer, highlighting the importance of this gene in human health and disease.

Genular Protein ID: 896862684

Symbol: DHSO_HUMAN

Name: L-iditol 2-dehydrogenase

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 8088829

Title: The human sorbitol dehydrogenase gene: cDNA cloning, sequence determination, and mapping by fluorescence in situ hybridization.

PubMed ID: 8088829

DOI: 10.1006/geno.1994.1276

PubMed ID: 7782086

Title: Structural organization of the human sorbitol dehydrogenase gene (SORD).

PubMed ID: 7782086

DOI: 10.1016/0888-7543(95)80082-w

PubMed ID: 9183016

Title: Identification and characterisation of a sequence related to human sorbitol dehydrogenase.

PubMed ID: 9183016

DOI: 10.1111/j.1432-1033.1997.00760.x

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16572171

Title: Analysis of the DNA sequence and duplication history of human chromosome 15.

PubMed ID: 16572171

DOI: 10.1038/nature04601

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: 2691249

Title: Variability within mammalian sorbitol dehydrogenases. The primary structure of the human liver enzyme.

PubMed ID: 2691249

DOI: 10.1111/j.1432-1033.1989.tb15240.x

PubMed ID: 12665801

Title: Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.

PubMed ID: 12665801

DOI: 10.1038/nbt810

PubMed ID: 3365415

Title: Purification and characterization of human liver sorbitol dehydrogenase.

PubMed ID: 3365415

DOI: 10.1021/bi00405a035

PubMed ID: 16278369

Title: Polyol pathway in human epididymis and semen.

PubMed ID: 16278369

DOI: 10.2164/jandrol.05108

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 20372835

Title: Sorbitol dehydrogenase expression is regulated by androgens in the human prostate.

PubMed ID: 20372835

DOI: 10.3892/or_00000755

PubMed ID: 19423711

Title: ZAC1 is up-regulated by hypertonicity and decreases sorbitol dehydrogenase expression, allowing accumulation of sorbitol in kidney cells.

PubMed ID: 19423711

DOI: 10.1074/jbc.m109.001792

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 25105142

Title: Molecular mechanisms of diabetic retinopathy, general preventive strategies, and novel therapeutic targets.

PubMed ID: 25105142

DOI: 10.1155/2014/801269

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 29966615

Title: Molecular mechanism of diabetic neuropathy and its pharmacotherapeutic targets.

PubMed ID: 29966615

DOI: 10.1016/j.ejphar.2018.06.034

PubMed ID: 12962626

Title: X-ray crystallographic and kinetic studies of human sorbitol dehydrogenase.

PubMed ID: 12962626

DOI: 10.1016/s0969-2126(03)00167-9

PubMed ID: 32367058

Title: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.

PubMed ID: 32367058

DOI: 10.1038/s41588-020-0615-4

PubMed ID: 32457452

Title:

PubMed ID: 32457452

DOI: 10.1038/s41588-020-0649-7

PubMed ID: 33314640

Title: Evaluation of SORD mutations as a novel cause of Charcot-Marie-Tooth disease.

PubMed ID: 33314640

DOI: 10.1002/acn3.51268

PubMed ID: 33397963

Title: Biallelic SORD pathogenic variants cause Chinese patients with distal hereditary motor neuropathy.

PubMed ID: 33397963

DOI: 10.1038/s41525-020-00165-6

Sequence Information:

  • Length: 357
  • Mass: 38325
  • Checksum: FF13DDD5EBE47754
  • Sequence:
  • MAAAAKPNNL SLVVHGPGDL RLENYPIPEP GPNEVLLRMH SVGICGSDVH YWEYGRIGNF 
    IVKKPMVLGH EASGTVEKVG SSVKHLKPGD RVAIEPGAPR ENDEFCKMGR YNLSPSIFFC 
    ATPPDDGNLC RFYKHNAAFC YKLPDNVTFE EGALIEPLSV GIHACRRGGV TLGHKVLVCG 
    AGPIGMVTLL VAKAMGAAQV VVTDLSATRL SKAKEIGADL VLQISKESPQ EIARKVEGQL 
    GCKPEVTIEC TGAEASIQAG IYATRSGGNL VLVGLGSEMT TVPLLHAAIR EVDIKGVFRY 
    CNTWPVAISM LASKSVNVKP LVTHRFPLEK ALEAFETFKK GLGLKIMLKC DPSDQNP

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.