Details for: SGCD

Gene ID: 6444

Symbol: SGCD

Ensembl ID: ENSG00000170624

Description: sarcoglycan delta

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: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 5.32
    Marker Score: 118872
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 4.05
    Marker Score: 136618
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 3.99
    Marker Score: 14178.5
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 3.85
    Marker Score: 16105
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: 3.64
    Marker Score: 2768
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 3.44
    Marker Score: 8239
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 3.34
    Marker Score: 1496
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 3.27
    Marker Score: 8179
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 2.96
    Marker Score: 1949
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 2.94
    Marker Score: 859
  • Cell Name: alveolar type 2 fibroblast cell (CL4028006)
    Fold Change: 2.91
    Marker Score: 1618.5
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 2.82
    Marker Score: 60236
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 2.68
    Marker Score: 47655
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 2.67
    Marker Score: 5067
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 2.67
    Marker Score: 1551
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 2.6
    Marker Score: 10774
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 2.46
    Marker Score: 4124
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 2.34
    Marker Score: 9043
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 2.32
    Marker Score: 732
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 2.24
    Marker Score: 2765.5
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 2.15
    Marker Score: 20231
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 2.13
    Marker Score: 1104
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 2.13
    Marker Score: 31823
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 2.05
    Marker Score: 21194
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 2.03
    Marker Score: 1758
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 1.92
    Marker Score: 3492
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 1.88
    Marker Score: 5370
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.86
    Marker Score: 17683
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.81
    Marker Score: 15513
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.74
    Marker Score: 3544
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.67
    Marker Score: 6789
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 1.67
    Marker Score: 567
  • Cell Name: fat cell (CL0000136)
    Fold Change: 1.65
    Marker Score: 921
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 1.61
    Marker Score: 2002
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.6
    Marker Score: 1163
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 1.58
    Marker Score: 949
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.57
    Marker Score: 1563
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 1.57
    Marker Score: 1180
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 1.56
    Marker Score: 7201
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.55
    Marker Score: 30866
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 1.53
    Marker Score: 2952
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.46
    Marker Score: 167624
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.45
    Marker Score: 89401
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 1.45
    Marker Score: 556
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 1.41
    Marker Score: 3092
  • Cell Name: neuronal brush cell (CL0000555)
    Fold Change: 1.39
    Marker Score: 4672
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 1.39
    Marker Score: 1597
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.38
    Marker Score: 21519
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.37
    Marker Score: 866
  • Cell Name: T cell (CL0000084)
    Fold Change: 1.3
    Marker Score: 2239
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 1.3
    Marker Score: 727
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.26
    Marker Score: 1940
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.21
    Marker Score: 45771
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 1.2
    Marker Score: 15843
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.19
    Marker Score: 9157
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.17
    Marker Score: 43312
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 1.17
    Marker Score: 484.5
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 1.17
    Marker Score: 577
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 1.15
    Marker Score: 418
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.14
    Marker Score: 4796
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 1.14
    Marker Score: 877
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 1.12
    Marker Score: 316
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 1.11
    Marker Score: 288
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.09
    Marker Score: 2576
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 1.08
    Marker Score: 6510
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 1.03
    Marker Score: 270
  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 1.02
    Marker Score: 374
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71795
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48020.5
  • Cell Name: CNS interneuron (CL0000402)
    Fold Change: 0.98
    Marker Score: 473
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.98
    Marker Score: 506
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30406
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.97
    Marker Score: 460
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.96
    Marker Score: 439
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2411
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.94
    Marker Score: 293
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.93
    Marker Score: 372
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.92
    Marker Score: 5274
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2735
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 324
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5280
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.87
    Marker Score: 414
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.86
    Marker Score: 655
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: 0.85
    Marker Score: 566
  • Cell Name: bronchus fibroblast of lung (CL2000093)
    Fold Change: 0.84
    Marker Score: 1153
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.84
    Marker Score: 1010
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 0.83
    Marker Score: 523.5
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.82
    Marker Score: 433
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.79
    Marker Score: 321
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 0.78
    Marker Score: 2029
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.77
    Marker Score: 1258
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.77
    Marker Score: 700
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.77
    Marker Score: 507
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 0.77
    Marker Score: 1801
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 395
  • Cell Name: meningeal macrophage (CL0000879)
    Fold Change: 0.76
    Marker Score: 213
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.75
    Marker Score: 874
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 0.73
    Marker Score: 483
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 0.7
    Marker Score: 226
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.7
    Marker Score: 4549

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Other Information

**Key Characteristics:** Delta-sarcoglycan is a transmembrane protein that belongs to the sarcoglycan family, which consists of five members: alpha-dystroglycan, beta-dystroglycan, gamma-dystroglycan, delta-sarcoglycan, and epsilon-sarcoglycan. Delta-sarcoglycan is characterized by its unique structure, which includes a cytoplasmic tail and a transmembrane domain. This protein is highly expressed in various muscle cells, including cardiac myocytes, skeletal muscle fibers, and Purkinje cells. **Pathways and Functions:** Delta-sarcoglycan is involved in several critical pathways that maintain muscle cell integrity and function. These include: 1. **Calcium-mediated signaling:** Delta-sarcoglycan is part of the DGC, which regulates calcium ion homeostasis and muscle contraction. Mutations in delta-sarcoglycan can disrupt calcium signaling, leading to muscle cell dysfunction. 2. **Cytoskeleton organization:** Delta-sarcoglycan interacts with other proteins in the DGC to maintain the organization of the cytoskeleton, which is essential for muscle cell contraction and relaxation. 3. **Sarcoplasmic reticulum function:** Delta-sarcoglycan is also involved in the regulation of sarcoplasmic reticulum (SR) function, which is critical for muscle cell contraction and relaxation. 4. **Muscle cell development:** Delta-sarcoglycan is expressed during muscle cell development and is involved in the formation of the DGC, which is essential for muscle cell maturation. **Clinical Significance:** Mutations in the SGCD gene have been associated with various muscular dystrophies, including: 1. **Limb-girdle muscular dystrophy type 2C (LGMD2C):** This is the most common form of LGMD, accounting for approximately 10% of cases. Patients with LGMD2C often present with muscle weakness and wasting in the proximal limbs. 2. **Congenital muscular dystrophy:** Delta-sarcoglycan mutations have also been associated with congenital muscular dystrophy, a group of disorders characterized by muscle weakness and wasting at birth. In conclusion, the SGCD gene plays a critical role in maintaining muscle cell integrity and function. Mutations in this gene can lead to various muscular dystrophies, highlighting the importance of delta-sarcoglycan in muscle development and function. Further research is needed to understand the mechanisms underlying SGCD-related muscular dystrophies and to develop effective treatment strategies for patients affected by these disorders.

Genular Protein ID: 2893438747

Symbol: SGCD_HUMAN

Name: Delta-sarcoglycan

UniProtKB Accession Codes:

Q92629 A8K9S9 Q53XA5 Q99644

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CORUM 1 CTD 1 ChiTaRS 1 ComplexPortal 4 DMDM 1 DNASU 1 DisGeNET 1 EMBL 5 Ensembl 3 ExpressionAtlas 1 GO 15 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 2 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 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 7 SIGNOR 1 STRING 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8842738

Title: Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35kDa glycoprotein.

PubMed ID: 8842738

DOI: 10.1093/hmg/5.8.1179

PubMed ID: 8943294

Title: Characterization of delta-sarcoglycan, a novel component of the oligomeric sarcoglycan complex involved in limb-girdle muscular dystrophy.

PubMed ID: 8943294

DOI: 10.1074/jbc.271.50.32321

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

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: 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: 9832045

Title: A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies.

PubMed ID: 9832045

DOI: 10.1136/jmg.35.11.951

PubMed ID: 10974018

Title: Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy.

PubMed ID: 10974018

DOI: 10.1172/jci9224

PubMed ID: 10629222

Title: Filamin 2 (FLN2): a muscle-specific sarcoglycan interacting protein.

PubMed ID: 10629222

DOI: 10.1083/jcb.148.1.115

Sequence Information:

  • Length: 289
  • Mass: 32071
  • Checksum: EB775E2427D260B7
  • Sequence:
    • MPQEQYTHHR STMPGSVGPQ VYKVGIYGWR KRCLYFFVLL LMILILVNLA MTIWILKVMN 
FTIDGMGNLR ITEKGLKLEG DSEFLQPLYA KEIQSRPGNA LYFKSARNVT VNILNDQTKV 
LTQLITGPKA VEAYGKKFEV KTVSGKLLFS ADNNEVVVGA ERLRVLGAEG TVFPKSIETP 
NVRADPFKEL RLESPTRSLV MEAPKGVEIN AEAGNMEATC RTELRLESKD GEIKLDAAKI 
RLPRLPHGSY TPTGTRQKVF EICVCANGRL FLSQAGAGST CQINTSVCL

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.