Details for: GPHN

Gene ID: 10243

Symbol: GPHN

Ensembl ID: ENSG00000171723

Description: gephyrin

Associated with

Cells (max top 100)

(Marker Scores and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: neuronal brush cell (CL0000555)
    Fold Change: 7.9
    Marker Score: 26,481
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 7.03
    Marker Score: 37,742
  • Cell Name: granule cell (CL0000120)
    Fold Change: 6.49
    Marker Score: 48,952
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 6.42
    Marker Score: 33,674
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 6.28
    Marker Score: 14,432
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 5.76
    Marker Score: 194,669
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 5.06
    Marker Score: 12,682
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 5.01
    Marker Score: 3,775
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 4.41
    Marker Score: 20,381
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 4.4
    Marker Score: 2,897
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 4.32
    Marker Score: 2,841
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 4.11
    Marker Score: 3,641
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 4.04
    Marker Score: 9,671
  • Cell Name: contractile cell (CL0000183)
    Fold Change: 3.96
    Marker Score: 2,146
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 3.96
    Marker Score: 12,959
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 3.91
    Marker Score: 87,484
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 3.81
    Marker Score: 2,939
  • Cell Name: CNS interneuron (CL0000402)
    Fold Change: 3.78
    Marker Score: 1,818
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 3.56
    Marker Score: 14,912
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 3.46
    Marker Score: 1,821
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 3.44
    Marker Score: 3,902
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 3.42
    Marker Score: 4,816
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 3.38
    Marker Score: 7,428
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 3.38
    Marker Score: 6,508
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 3.35
    Marker Score: 4,512
  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 3.33
    Marker Score: 1,216
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 3.31
    Marker Score: 13,816
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 3.27
    Marker Score: 2,271
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 3.22
    Marker Score: 3,899
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 3.17
    Marker Score: 67,721
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 3.16
    Marker Score: 1,004
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 3.07
    Marker Score: 3,825
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 3.06
    Marker Score: 1,716
  • Cell Name: sympathetic neuron (CL0011103)
    Fold Change: 3.01
    Marker Score: 996
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 2.96
    Marker Score: 3,404
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 2.95
    Marker Score: 8,416
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 2.9
    Marker Score: 848
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 2.89
    Marker Score: 57,454
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 2.85
    Marker Score: 21,872
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 2.83
    Marker Score: 42,261
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 2.82
    Marker Score: 2,439
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 2.82
    Marker Score: 4,738
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 2.77
    Marker Score: 1,610
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 2.73
    Marker Score: 103,741
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 2.68
    Marker Score: 845
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 2.62
    Marker Score: 754
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 2.6
    Marker Score: 10,798
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 2.59
    Marker Score: 1,508
  • Cell Name: fat cell (CL0000136)
    Fold Change: 2.55
    Marker Score: 1,425
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 2.54
    Marker Score: 9,029
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 2.53
    Marker Score: 1,061
  • Cell Name: alveolar type 2 fibroblast cell (CL4028006)
    Fold Change: 2.53
    Marker Score: 1,405
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 2.53
    Marker Score: 1,477
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 2.49
    Marker Score: 40,044
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 2.49
    Marker Score: 8,851
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 2.46
    Marker Score: 1,271
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 2.45
    Marker Score: 90,208
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 2.44
    Marker Score: 886
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 2.44
    Marker Score: 1,455
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 2.42
    Marker Score: 929
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 2.37
    Marker Score: 42,063
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 2.34
    Marker Score: 607
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 2.33
    Marker Score: 9,022
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 2.33
    Marker Score: 1,150
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 2.3
    Marker Score: 2,541
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 2.3
    Marker Score: 1,991
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 2.3
    Marker Score: 2,190
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 2.29
    Marker Score: 2,455
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 2.28
    Marker Score: 2,837
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 2.24
    Marker Score: 2,773
  • Cell Name: ganglion interneuron (CL0000397)
    Fold Change: 2.21
    Marker Score: 671
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 2.19
    Marker Score: 20,560
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.08
    Marker Score: 127,669
  • Cell Name: neuron (CL0000540)
    Fold Change: 2.03
    Marker Score: 8,277
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 2.03
    Marker Score: 20,935
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 2.03
    Marker Score: 1,663
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 2.01
    Marker Score: 2,165
  • Cell Name: podocyte (CL0000653)
    Fold Change: 1.98
    Marker Score: 733
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 1.92
    Marker Score: 724
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.92
    Marker Score: 18,224
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 1.89
    Marker Score: 600
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 1.88
    Marker Score: 513
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.87
    Marker Score: 16,069
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 1.86
    Marker Score: 673
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 1.85
    Marker Score: 9,928
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 1.73
    Marker Score: 441
  • Cell Name: germ cell (CL0000586)
    Fold Change: 1.71
    Marker Score: 2,996
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.7
    Marker Score: 10,916
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.63
    Marker Score: 2,511
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: 1.62
    Marker Score: 2,354
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 1.61
    Marker Score: 802
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.57
    Marker Score: 6,787
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 1.54
    Marker Score: 2,178
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.51
    Marker Score: 3,563
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 1.51
    Marker Score: 1,064
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 1.46
    Marker Score: 6,075
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 1.45
    Marker Score: 1,158
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 1.44
    Marker Score: 539
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 1.44
    Marker Score: 489
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 1.4
    Marker Score: 368

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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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** Gephyrin's key characteristics include: 1. **Unique structure**: Gephyrin consists of two large domains, which enable it to bind to both neurotransmitter receptors and cytoskeletal proteins. 2. **Neurotransmitter receptor clustering**: Gephyrin is essential for the clustering and organization of inhibitory neurotransmitter receptors, such as GABA and glycine receptors, at the postsynaptic density. 3. **Cytoskeletal interaction**: Gephyrin interacts with cytoskeletal proteins, such as actin and spectrin, to form stable complexes that regulate neurotransmitter release and synaptic transmission. 4. **Metabolic functions**: Gephyrin is involved in the metabolism of water-soluble vitamins and cofactors, including molybdenum and molybdopterin. **Pathways and Functions** Gephyrin's pathways and functions include: 1. **Synaptic transmission regulation**: Gephyrin regulates neurotransmitter release and synaptic transmission by clustering and organizing inhibitory neurotransmitter receptors at the postsynaptic density. 2. **Neurotransmitter receptor clustering**: Gephyrin facilitates the clustering and organization of GABA and glycine receptors, which are essential for maintaining proper neuronal excitability and synaptic plasticity. 3. **Cytoskeletal organization**: Gephyrin interacts with cytoskeletal proteins to form stable complexes that regulate neurotransmitter release and synaptic transmission. 4. **Metabolic functions**: Gephyrin is involved in the metabolism of water-soluble vitamins and cofactors, including molybdenum and molybdopterin. **Clinical Significance** Gephyrin's dysregulation has been implicated in various neurological disorders, including: 1. **Epilepsy**: Gephyrin's dysregulation has been linked to the development of epilepsy, a neurological disorder characterized by recurrent seizures. 2. **Neuromuscular disorders**: Gephyrin's dysregulation has been implicated in neuromuscular disorders, such as myasthenia gravis and Lambert-Eaton myasthenic syndrome. 3. **Neurodevelopmental disorders**: Gephyrin's dysregulation has been linked to neurodevelopmental disorders, such as autism spectrum disorder and intellectual disability. In conclusion, gephyrin is a critical protein involved in the regulation of neurotransmitter receptors at the postsynaptic density of synapses. Its dysregulation has been implicated in various neurological disorders, highlighting the importance of further research into the mechanisms and clinical significance of gephyrin's functions.

Genular Protein ID: 1549172675

Symbol: GEPH_HUMAN

Name: Molybdopterin adenylyltransferase

UniProtKB Accession Codes:

Q9NQX3 Q96KU4 Q9H4E9 Q9P2G2

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 2 CTD 1 ChEBI 12 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 3 EC 2 EMBL 5 EPD 1 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 24 Gene3D 4 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 8 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 MoonDB 1 MoonProt 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 1 RefSeq 2 Rhea 4 SAM 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 3 SignaLink 1 TreeFam 1 UCSC 1 UniPathway 1 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 10839351

Title: Autoimmunity to gephyrin in Stiff-Man syndrome.

PubMed ID: 10839351

DOI: 10.1016/s0896-6273(00)81165-4

PubMed ID: 11095995

Title: A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency.

PubMed ID: 11095995

DOI: 10.1086/316941

PubMed ID: 11418245

Title: The human gephyrin (GPHN) gene: structure, chromosome localization and expression in non-neuronal cells.

PubMed ID: 11418245

DOI: 10.1016/s0378-1119(01)00511-x

PubMed ID: 10718198

Title: Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro.

PubMed ID: 10718198

DOI: 10.1093/dnares/7.1.65

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: 16964243

Title: A probability-based approach for high-throughput protein phosphorylation analysis and site localization.

PubMed ID: 16964243

DOI: 10.1038/nbt1240

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

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: 25025157

Title: Palmitoylation of gephyrin controls receptor clustering and plasticity of GABAergic synapses.

PubMed ID: 25025157

DOI: 10.1371/journal.pbio.1001908

PubMed ID: 11554796

Title: Crystal structures of human gephyrin and plant Cnx1 G domains: comparative analysis and functional implications.

PubMed ID: 11554796

DOI: 10.1006/jmbi.2001.4952

PubMed ID: 12684523

Title: Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia.

PubMed ID: 12684523

DOI: 10.1074/jbc.m301070200

PubMed ID: 22040219

Title: A GPHN point mutation leading to molybdenum cofactor deficiency.

PubMed ID: 22040219

DOI: 10.1111/j.1399-0004.2011.01709.x

PubMed ID: 26613940

Title: Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy.

PubMed ID: 26613940

DOI: 10.15252/emmm.201505323

Sequence Information:

  • Length: 736
  • Mass: 79748
  • Checksum: E2BDA3AD3AB962C0
  • Sequence:
    • MATEGMILTN HDHQIRVGVL TVSDSCFRNL AEDRSGINLK DLVQDPSLLG GTISAYKIVP 
DEIEEIKETL IDWCDEKELN LILTTGGTGF APRDVTPEAT KEVIEREAPG MALAMLMGSL 
NVTPLGMLSR PVCGIRGKTL IINLPGSKKG SQECFQFILP ALPHAIDLLR DAIVKVKEVH 
DELEDLPSPP PPLSPPPTTS PHKQTEDKGV QCEEEEEEKK DSGVASTEDS SSSHITAAAI 
AAKIPDSIIS RGVQVLPRDT ASLSTTPSES PRAQATSRLS TASCPTPKVQ SRCSSKENIL 
RASHSAVDIT KVARRHRMSP FPLTSMDKAF ITVLEMTPVL GTEIINYRDG MGRVLAQDVY 
AKDNLPPFPA SVKDGYAVRA ADGPGDRFII GESQAGEQPT QTVMPGQVMR VTTGAPIPCG 
ADAVVQVEDT ELIRESDDGT EELEVRILVQ ARPGQDIRPI GHDIKRGECV LAKGTHMGPS 
EIGLLATVGV TEVEVNKFPV VAVMSTGNEL LNPEDDLLPG KIRDSNRSTL LATIQEHGYP 
TINLGIVGDN PDDLLNALNE GISRADVIIT SGGVSMGEKD YLKQVLDIDL HAQIHFGRVF 
MKPGLPTTFA TLDIDGVRKI IFALPGNPVS AVVTCNLFVV PALRKMQGIL DPRPTIIKAR 
LSCDVKLDPR PEYHRCILTW HHQEPLPWAQ STGNQMSSRL MSMRSANGLL MLPPKTEQYV 
ELHKGEVVDV MVIGRL

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.