Details for: SGCA

Gene ID: 6442

Symbol: SGCA

Ensembl ID: ENSG00000108823

Description: sarcoglycan alpha

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: 46.0316
    Cell Significance Index: -7.1600
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 28.3863
    Cell Significance Index: -7.2000
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 15.1961
    Cell Significance Index: -6.2600
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 11.7554
    Cell Significance Index: -5.5500
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 5.6848
    Cell Significance Index: 163.7900
  • Cell Name: myometrial cell (CL0002366)
    Fold Change: 5.3929
    Cell Significance Index: 62.1100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 4.8151
    Cell Significance Index: 295.2100
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 4.1947
    Cell Significance Index: 87.0200
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 4.1384
    Cell Significance Index: 44.9900
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 3.4444
    Cell Significance Index: 84.0400
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: 2.8081
    Cell Significance Index: 45.3100
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: 2.7498
    Cell Significance Index: 34.8300
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 2.5772
    Cell Significance Index: 55.8400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 2.0949
    Cell Significance Index: 67.1000
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 1.8564
    Cell Significance Index: 19.3800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.7518
    Cell Significance Index: 79.4100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 1.2827
    Cell Significance Index: 244.1100
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: 1.1878
    Cell Significance Index: 17.9000
  • Cell Name: perivascular cell (CL4033054)
    Fold Change: 1.1251
    Cell Significance Index: 5.2000
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.9306
    Cell Significance Index: 92.0600
  • Cell Name: muscle precursor cell (CL0000680)
    Fold Change: 0.9178
    Cell Significance Index: 6.2700
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.7765
    Cell Significance Index: 701.1300
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.6968
    Cell Significance Index: 5.7600
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.6182
    Cell Significance Index: 15.8900
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.5670
    Cell Significance Index: 12.0800
  • Cell Name: inflammatory cell (CL0009002)
    Fold Change: 0.5075
    Cell Significance Index: 2.9100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.4922
    Cell Significance Index: 80.0600
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.4816
    Cell Significance Index: 7.6400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.4814
    Cell Significance Index: 36.9500
  • Cell Name: tongue muscle cell (CL0002673)
    Fold Change: 0.4754
    Cell Significance Index: 3.5600
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.4523
    Cell Significance Index: 49.2000
  • Cell Name: muscle cell (CL0000187)
    Fold Change: 0.3126
    Cell Significance Index: 2.9900
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2559
    Cell Significance Index: 17.7000
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.2187
    Cell Significance Index: 13.1300
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.1876
    Cell Significance Index: 2.7700
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 0.0877
    Cell Significance Index: 1.5500
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 0.0786
    Cell Significance Index: 0.6600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0268
    Cell Significance Index: 12.1700
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0148
    Cell Significance Index: 0.3700
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0025
    Cell Significance Index: 0.3200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0002
    Cell Significance Index: -0.4400
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0009
    Cell Significance Index: -0.0300
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: -0.0020
    Cell Significance Index: -0.0300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0043
    Cell Significance Index: -8.0000
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0050
    Cell Significance Index: -7.7200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0059
    Cell Significance Index: -8.0000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0067
    Cell Significance Index: -4.2600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0092
    Cell Significance Index: -6.9600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0105
    Cell Significance Index: -7.7600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0125
    Cell Significance Index: -7.0700
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0159
    Cell Significance Index: -0.8000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0175
    Cell Significance Index: -6.2800
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: -0.0187
    Cell Significance Index: -0.1800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0190
    Cell Significance Index: -2.7600
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: -0.0191
    Cell Significance Index: -0.2500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0203
    Cell Significance Index: -3.6600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0255
    Cell Significance Index: -7.3300
  • Cell Name: fetal cardiomyocyte (CL0002495)
    Fold Change: -0.0262
    Cell Significance Index: -0.0800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0282
    Cell Significance Index: -3.2900
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0290
    Cell Significance Index: -1.1900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0305
    Cell Significance Index: -6.0600
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0311
    Cell Significance Index: -0.6500
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0325
    Cell Significance Index: -6.5200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0340
    Cell Significance Index: -4.1800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0392
    Cell Significance Index: -6.7000
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0416
    Cell Significance Index: -8.7600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0459
    Cell Significance Index: -4.7800
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0477
    Cell Significance Index: -5.6200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0521
    Cell Significance Index: -7.1600
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0543
    Cell Significance Index: -7.0200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0558
    Cell Significance Index: -1.5600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0565
    Cell Significance Index: -5.7800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0664
    Cell Significance Index: -7.6100
  • Cell Name: embryonic fibroblast (CL2000042)
    Fold Change: -0.0794
    Cell Significance Index: -0.3800
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0830
    Cell Significance Index: -3.8700
  • Cell Name: uterine smooth muscle cell (CL0002601)
    Fold Change: -0.0914
    Cell Significance Index: -0.8800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0934
    Cell Significance Index: -6.9600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0958
    Cell Significance Index: -6.1800
  • Cell Name: decidual cell (CL2000002)
    Fold Change: -0.0972
    Cell Significance Index: -1.5600
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1016
    Cell Significance Index: -6.8300
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.1034
    Cell Significance Index: -1.5700
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.1039
    Cell Significance Index: -1.1800
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1051
    Cell Significance Index: -6.4600
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: -0.1170
    Cell Significance Index: -1.8100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1239
    Cell Significance Index: -6.9500
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.1263
    Cell Significance Index: -1.6200
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: -0.1282
    Cell Significance Index: -0.9600
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.1328
    Cell Significance Index: -0.9000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1386
    Cell Significance Index: -6.5200
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: -0.1431
    Cell Significance Index: -1.9300
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.1452
    Cell Significance Index: -3.6200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.1490
    Cell Significance Index: -7.7400
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1502
    Cell Significance Index: -5.2200
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: -0.1648
    Cell Significance Index: -1.6600
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1665
    Cell Significance Index: -8.7400
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1721
    Cell Significance Index: -2.8800
  • Cell Name: muscle fibroblast (CL1001609)
    Fold Change: -0.1747
    Cell Significance Index: -1.0700
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: -0.1753
    Cell Significance Index: -1.8500
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1781
    Cell Significance Index: -6.2400
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1796
    Cell Significance Index: -5.2900

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:** SGCA is a transmembrane protein that belongs to the sarcoglycan family, which is composed of four subunits: alpha, beta, gamma, and delta. SGCA is specifically expressed in skeletal muscle, cardiac muscle, and smooth muscle, where it forms a complex with dystrophin, a cytoskeletal protein essential for muscle function. SGCA is involved in the regulation of muscle contraction, adaptation, and regeneration, and its deficiency has been linked to various muscle disorders. **Pathways and Functions:** SGCA plays a critical role in several cellular pathways, including: 1. **Calcium ion binding:** SGCA regulates calcium ion homeostasis in muscle cells, which is essential for muscle contraction and relaxation. 2. **Cell-cell junction:** SGCA contributes to the formation and maintenance of muscle cell-cell junctions, ensuring proper muscle function and integrity. 3. **Cytoskeleton organization:** SGCA interacts with dystrophin and other cytoskeletal proteins to maintain muscle cell shape and structure. 4. **Muscle contraction:** SGCA regulates muscle contraction by modulating the interaction between actin and myosin filaments. 5. **Muscle adaptation and regeneration:** SGCA is involved in the regulation of muscle adaptation to exercise and injury, as well as muscle regeneration after damage. **Clinical Significance:** SGCA deficiency has been associated with various muscle disorders, including: 1. **Muscular dystrophy:** SGCA deficiency has been linked to various forms of muscular dystrophy, including limb-girdle muscular dystrophy and cardiac muscle dystrophy. 2. **Myopathy:** SGCA deficiency has also been associated with myopathies, such as dysferlinopathy and myotonic dystrophy. 3. **Cardiac muscle dysfunction:** SGCA deficiency can lead to cardiac muscle dysfunction, which can result in heart failure and arrhythmias. In conclusion, SGCA plays a crucial role in maintaining muscle integrity and function, and its deficiency has significant clinical implications for various muscle disorders. Further research is needed to understand the mechanisms underlying SGCA deficiency and to develop effective therapeutic strategies for these diseases. **Significantly expressed cells:** * Neuroendocrine cell * Skeletal muscle satellite stem cell * Reticular cell * Colon goblet cell * Muscle cell * Enterocyte of epithelium of large intestine * Tracheobronchial smooth muscle cell * Intestinal crypt stem cell of small intestine * Enterocyte of epithelium of small intestine * Cardiac muscle myoblast **Proteins:** * SGCA_HUMAN (Alpha-sarcoglycan) * A0A0S2Z4P8_HUMAN (Alternative protein sequence) In summary, SGCA is a critical component of the DAGC, and its deficiency has significant clinical implications for various muscle disorders. Further research is needed to understand the mechanisms underlying SGCA deficiency and to develop effective therapeutic strategies for these diseases.

Genular Protein ID: 2519417161

Symbol: SGCA_HUMAN

Name: Alpha-sarcoglycan

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 8069911

Title: Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy.

PubMed ID: 8069911

DOI: 10.1016/0092-8674(94)90527-4

PubMed ID: 7937874

Title: Human adhalin is alternatively spliced and the gene is on chromosome 17q21.

PubMed ID: 7937874

DOI: 10.1073/pnas.91.21.9690

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16625196

Title: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.

PubMed ID: 16625196

DOI: 10.1038/nature04689

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: 8528203

Title: A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy.

PubMed ID: 8528203

DOI: 10.1093/hmg/4.7.1163

PubMed ID: 7657792

Title: Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency.

PubMed ID: 7657792

DOI: 10.1172/jci118152

PubMed ID: 7663524

Title: Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity.

PubMed ID: 7663524

DOI: 10.1038/ng0695-243

PubMed ID: 9192266

Title: Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D).

PubMed ID: 9192266

DOI: 10.1136/jmg.34.6.470

PubMed ID: 9032047

Title: Mutations in the sarcoglycan genes in patients with myopathy.

PubMed ID: 9032047

DOI: 10.1056/nejm199702273360904

PubMed ID: 9585331

Title: Homozygous alpha-sarcoglycan mutation in two siblings: one asymptomatic and one steroid-responsive mild limb-girdle muscular dystrophy patient.

PubMed ID: 9585331

DOI: 10.1002/(sici)1097-4598(199806)21:6<769::aid-mus9>3.0.co;2-5

PubMed ID: 30345904

Title: The impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.

PubMed ID: 30345904

DOI: 10.1152/physiolgenomics.00036.2018

Sequence Information:

  • Length: 387
  • Mass: 42875
  • Checksum: 9CD0270A00BE03E6
  • Sequence:
  • MAETLFWTPL LVVLLAGLGD TEAQQTTLHP LVGRVFVHTL DHETFLSLPE HVAVPPAVHI 
    TYHAHLQGHP DLPRWLRYTQ RSPHHPGFLY GSATPEDRGL QVIEVTAYNR DSFDTTRQRL 
    VLEIGDPEGP LLPYQAEFLV RSHDAEEVLP STPASRFLSA LGGLWEPGEL QLLNVTSALD 
    RGGRVPLPIE GRKEGVYIKV GSASPFSTCL KMVASPDSHA RCAQGQPPLL SCYDTLAPHF 
    RVDWCNVTLV DKSVPEPADE VPTPGDGILE HDPFFCPPTE APDRDFLVDA LVTLLVPLLV 
    ALLLTLLLAY VMCCRREGRL KRDLATSDIQ MVHHCTIHGN TEELRQMAAS REVPRPLSTL 
    PMFNVHTGER LPPRVDSAQV PLILDQH

Genular Protein ID: 2855513227

Symbol: A0A0S2Z4P8_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

PubMed ID: 26871637

Title: Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.

PubMed ID: 26871637

DOI: 10.1016/j.cell.2016.01.029

Sequence Information:

  • Length: 263
  • Mass: 29354
  • Checksum: A5437E496658776B
  • Sequence:
  • MAETLFWTPL LVVLLAGLGD TEAQQTTLHP LVGRVFVHTL DHETFLSLPE HVAVPPAVHI 
    TYHAHLQGHP DLPRWLRYTQ RSPHHPGFLY GSATPEDRGL QVIEVTAYNR DSFDTTRQRL 
    VLEIGDPEGP LLPYQAEFLV RSHDAEEVLP STPASRFLSA LGGLWEPGEL QLLNVTSALD 
    RGGRVPLPIE GRKEGLKRDL ATSDIQMVHH CTIHGNTEEL RQMAASREVP RPLSTLPMFN 
    VHTGERLPPR VDSAQVPLIL DQH

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.