Details for: CHRND

Gene ID: 1144

Symbol: CHRND

Ensembl ID: ENSG00000135902

Description: cholinergic receptor nicotinic delta subunit

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: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 3.7848
    Cell Significance Index: -0.9600
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 1.9463
    Cell Significance Index: 33.2700
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: 0.8342
    Cell Significance Index: 13.4600
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.6636
    Cell Significance Index: 5.6400
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.5921
    Cell Significance Index: 8.1200
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 0.5639
    Cell Significance Index: 13.7600
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: 0.4789
    Cell Significance Index: 6.9800
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.3339
    Cell Significance Index: 3.6300
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.2278
    Cell Significance Index: 3.6900
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: 0.1935
    Cell Significance Index: 2.4500
  • Cell Name: muscle cell (CL0000187)
    Fold Change: 0.1516
    Cell Significance Index: 1.4500
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 0.1475
    Cell Significance Index: 1.1400
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.1336
    Cell Significance Index: 1.9400
  • Cell Name: muscle precursor cell (CL0000680)
    Fold Change: 0.1010
    Cell Significance Index: 0.6900
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.0996
    Cell Significance Index: 3.4600
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.0852
    Cell Significance Index: 2.1900
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.0658
    Cell Significance Index: 1.4400
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 0.0632
    Cell Significance Index: 0.6600
  • Cell Name: kidney interstitial alternatively activated macrophage (CL1000695)
    Fold Change: 0.0504
    Cell Significance Index: 0.5200
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 0.0476
    Cell Significance Index: 0.5800
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 0.0468
    Cell Significance Index: 0.1100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0343
    Cell Significance Index: 6.8100
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.0276
    Cell Significance Index: 0.6900
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.0207
    Cell Significance Index: 0.5500
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: 0.0153
    Cell Significance Index: 0.2000
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: 0.0134
    Cell Significance Index: 0.2000
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.0084
    Cell Significance Index: 0.2300
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 0.0044
    Cell Significance Index: 0.0400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0007
    Cell Significance Index: 1.1300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0006
    Cell Significance Index: 1.1200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0004
    Cell Significance Index: 0.0900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0003
    Cell Significance Index: 0.6500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0002
    Cell Significance Index: 0.2100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0001
    Cell Significance Index: 0.0200
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.0000
    Cell Significance Index: 0.0000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0004
    Cell Significance Index: -0.1500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0007
    Cell Significance Index: -0.4600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0008
    Cell Significance Index: -0.6200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0009
    Cell Significance Index: -0.0500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0010
    Cell Significance Index: -0.5400
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0014
    Cell Significance Index: -0.0200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0015
    Cell Significance Index: -0.7000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0015
    Cell Significance Index: -0.8300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0016
    Cell Significance Index: -0.2300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0016
    Cell Significance Index: -0.4700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0017
    Cell Significance Index: -0.2900
  • Cell Name: L5/6 near-projecting glutamatergic neuron (CL4030067)
    Fold Change: -0.0038
    Cell Significance Index: -0.0200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0041
    Cell Significance Index: -0.8600
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0041
    Cell Significance Index: -0.1100
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0047
    Cell Significance Index: -0.1000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0053
    Cell Significance Index: -0.6100
  • Cell Name: L4 intratelencephalic projecting glutamatergic neuron (CL4030063)
    Fold Change: -0.0057
    Cell Significance Index: -0.0600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0058
    Cell Significance Index: -0.8000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0064
    Cell Significance Index: -0.7900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0082
    Cell Significance Index: -0.8600
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.0085
    Cell Significance Index: -0.1400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0093
    Cell Significance Index: -0.6300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0099
    Cell Significance Index: -0.6100
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: -0.0109
    Cell Significance Index: -0.1400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0112
    Cell Significance Index: -0.8600
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0118
    Cell Significance Index: -0.7300
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: -0.0131
    Cell Significance Index: -0.1700
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: -0.0135
    Cell Significance Index: -0.1900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0135
    Cell Significance Index: -0.7100
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0150
    Cell Significance Index: -0.6100
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0151
    Cell Significance Index: -0.7600
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.0159
    Cell Significance Index: -0.4000
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.0161
    Cell Significance Index: -0.5100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0162
    Cell Significance Index: -0.7600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0170
    Cell Significance Index: -0.7500
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: -0.0171
    Cell Significance Index: -0.1800
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0171
    Cell Significance Index: -0.6000
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0172
    Cell Significance Index: -0.6500
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.0196
    Cell Significance Index: -0.5000
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: -0.0215
    Cell Significance Index: -0.4200
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0220
    Cell Significance Index: -0.7200
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0226
    Cell Significance Index: -0.7200
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.0248
    Cell Significance Index: -0.7300
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0248
    Cell Significance Index: -0.5200
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0257
    Cell Significance Index: -0.4300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0258
    Cell Significance Index: -0.6900
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0274
    Cell Significance Index: -0.5500
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0279
    Cell Significance Index: -0.8000
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.0291
    Cell Significance Index: -0.7300
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.0303
    Cell Significance Index: -0.6000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0307
    Cell Significance Index: -0.8900
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.0310
    Cell Significance Index: -0.6700
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.0311
    Cell Significance Index: -0.2100
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.0312
    Cell Significance Index: -0.4600
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.0312
    Cell Significance Index: -0.5300
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0328
    Cell Significance Index: -0.6800
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.0334
    Cell Significance Index: -0.8000
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: -0.0335
    Cell Significance Index: -0.4400
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.0336
    Cell Significance Index: -0.5700
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: -0.0337
    Cell Significance Index: -0.3900
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0343
    Cell Significance Index: -0.6700
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0348
    Cell Significance Index: -0.8700
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: -0.0351
    Cell Significance Index: -0.3400
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.0354
    Cell Significance Index: -0.6100
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.0355
    Cell Significance Index: -0.8600

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. **Subunit composition:** The delta subunit is one of the five subunits that form the nAChR complex, which also includes alpha, beta, epsilon, and gamma subunits. 2. **Ligand binding:** The delta subunit binds to the nicotinic acetylcholine ligand, acetylcholine, and facilitates the opening of the ion channel. 3. **Ion channel activity:** The nAChR complex, including the delta subunit, is a ligand-gated ion channel that allows the influx of sodium and potassium ions, leading to depolarization of the postsynaptic membrane. 4. **Expression patterns:** The delta subunit is widely expressed in various tissues, including the nervous system, muscle, and immune cells. **Pathways and Functions:** 1. **Acetylcholine-gated channel complex:** The delta subunit is part of the nAChR complex, which is activated by acetylcholine binding, leading to the opening of the ion channel and subsequent depolarization of the postsynaptic membrane. 2. **Signal transduction:** The delta subunit plays a role in regulating signal transduction pathways, including the activation of downstream kinases and transcription factors. 3. **Muscle contraction:** The nAChR complex, including the delta subunit, is involved in regulating muscle contraction and relaxation, particularly in skeletal muscle. 4. **Neurotransmitter regulation:** The delta subunit is involved in regulating neurotransmitter release and uptake, particularly in the context of the neuromuscular junction. **Clinical Significance:** 1. **Neuropsychiatric disorders:** Abnormalities in the CHRNA4 gene have been implicated in various neuropsychiatric disorders, including Alzheimer's disease, schizophrenia, and attention deficit hyperactivity disorder (ADHD). 2. **Neuromuscular disorders:** Mutations in the CHRNA4 gene have been associated with myasthenia gravis, a neuromuscular disorder characterized by muscle weakness and fatigue. 3. **Cancer:** The delta subunit has been implicated in the regulation of cancer cell growth and survival, highlighting its potential role in cancer therapy. 4. **Neurodevelopmental disorders:** The delta subunit is involved in regulating neurodevelopmental processes, including synaptogenesis and neuronal migration, which are critical for normal brain development. In conclusion, the CHRNA4 gene plays a critical role in regulating neurotransmission, muscle contraction, and synaptic plasticity. Abnormalities in this gene have been implicated in various neuropsychiatric and neuromuscular disorders, highlighting the importance of this gene in maintaining normal physiological function. Further research is needed to fully understand the mechanisms by which the delta subunit regulates these processes and to develop targeted therapies for diseases associated with CHRNA4 dysfunction.

Genular Protein ID: 293335746

Symbol: ACHD_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 2564429

Title: A muscle acetylcholine receptor is expressed in the human cerebellar medulloblastoma cell line TE671.

PubMed ID: 2564429

DOI: 10.1523/jneurosci.09-03-01082.1989

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

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: 15609996

Title: Alpha-conotoxins ImI and ImII target distinct regions of the human alpha7 nicotinic acetylcholine receptor and distinguish human nicotinic receptor subtypes.

PubMed ID: 15609996

DOI: 10.1021/bi048918g

PubMed ID: 16916845

Title: CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn.

PubMed ID: 16916845

DOI: 10.1093/brain/awl188

PubMed ID: 18398509

Title: Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating.

PubMed ID: 18398509

DOI: 10.1172/jci34527

PubMed ID: 27375219

Title: Mutations causing slow-channel myasthenia reveal that a valine ring in the channel pore of muscle AChR is optimized for stabilizing channel gating.

PubMed ID: 27375219

DOI: 10.1002/humu.23043

PubMed ID: 8872460

Title: New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome.

PubMed ID: 8872460

DOI: 10.1093/hmg/5.9.1217

PubMed ID: 11782989

Title: Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms.

PubMed ID: 11782989

DOI: 10.1002/ana.10077

PubMed ID: 11435464

Title: Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita.

PubMed ID: 11435464

DOI: 10.1172/jci12935

PubMed ID: 12499478

Title: Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation.

PubMed ID: 12499478

DOI: 10.1212/01.wnl.0000042422.87384.2f

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

PubMed ID: 18252226

Title: Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.

PubMed ID: 18252226

DOI: 10.1016/j.ajhg.2007.11.006

Sequence Information:

  • Length: 517
  • Mass: 58895
  • Checksum: 195CEF69358758BD
  • Sequence:
  • MEGPVLTLGL LAALAVCGSW GLNEEERLIR HLFQEKGYNK ELRPVAHKEE SVDVALALTL 
    SNLISLKEVE ETLTTNVWIE HGWTDNRLKW NAEEFGNISV LRLPPDMVWL PEIVLENNND 
    GSFQISYSCN VLVYHYGFVY WLPPAIFRSS CPISVTYFPF DWQNCSLKFS SLKYTAKEIT 
    LSLKQDAKEN RTYPVEWIII DPEGFTENGE WEIVHRPARV NVDPRAPLDS PSRQDITFYL 
    IIRRKPLFYI INILVPCVLI SFMVNLVFYL PADSGEKTSV AISVLLAQSV FLLLISKRLP 
    ATSMAIPLIG KFLLFGMVLV TMVVVICVIV LNIHFRTPST HVLSEGVKKL FLETLPELLH 
    MSRPAEDGPS PGALVRRSSS LGYISKAEEY FLLKSRSDLM FEKQSERHGL ARRLTTARRP 
    PASSEQAQQE LFNELKPAVD GANFIVNHMR DQNNYNEEKD SWNRVARTVD RLCLFVVTPV 
    MVVGTAWIFL QGVYNQPPPQ PFPGDPYSYN VQDKRFI

Genular Protein ID: 4099709599

Symbol: B4E3W4_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Sequence Information:

  • Length: 323
  • Mass: 35465
  • Checksum: 6573DD93F5FB7D9D
  • Sequence:
  • MLKNLETSVS CASPRTWCGS QRLCWRTTMT APSRSPTPAT CLSTTTASCT GCHLPSSAPP 
    APSLSPISPS TGRTAPSSSG GEKTSVAISV LLAQSVFLLL ISKRLPATSM AIPLIGKFLL 
    FGMVLVTMVV VICVIVLNIH FRTPSTHVLS EGVKKLFLET LPELLHMSRP AEDGPSPGAL 
    VRRSSSLGYI SKAEEYFLLK SRSDLMFEKQ SERHGLARRL TTARRPPASS EQAQQELFNE 
    LKPAVDGANF IVNHMRDQNN YNEEKDSWNR VARTVDRLCL FVVTPVMVVG TAWIFLQGVY 
    NQPPPQPFPG DPYSYNVQDK RFI

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.