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General Information
| Gene_Symbol | Gene_ID | Gene_Name | Chromosome | Alias |
|---|---|---|---|---|
| GPHN | 10243 | Gephyrin  | 14 | GPH; GEPH; HKPX1; GPHRYN  |
- Evidence
- Gene
- mRNA
- CDS
- Protein
- PTM
- Enzyme
- PPi
- Pathway
- Structural
- Domain
- Ontology
- SNP
- Drug
- External Links
Evidence Information
| Pubmed ID | Year | Sample Information | Techniques | Mechanism | Fold Change | Remark |
|---|---|---|---|---|---|---|
| 22968445    | 2012 | Cell line : - Source : Department of Pathology of Wrocaw Medical University. Sample Type : CRC tumor and normal tissue No. of Sample : 8 Stage : - | Laser capture microdissection,FFPE-FASP,SAX fractionation,LC-MSMS,Label-free quantitation. | Up-regulation | - | A list of genes including this gene are differentially expressed analysed by LC-MS/MS technique. To compare the proteomes of colonic mucosa (normal or N) and colon cancer (cancer or C), we analyzed archival FFPE clinical samples originating from eight patients. |
Gene Details

| Gene Type | protein coding |
|---|---|
| Gene Family | - |
| Description | This gene encodes a neuronal assembly protein that anchors inhibitory neurotransmitter receptors to the postsynaptic cytoskeleton via high affinity binding to a receptor subunit domain and tubulin dimers. In nonneuronal tissues, the encoded protein is also required for molybdenum cofactor biosynthesis. Mutations in this gene may be associated with the neurological condition hyperplexia and also lead to molybdenum cofactor deficiency. Numerous alternatively spliced transcript variants encoding different isoforms have been described; however, the full-length nature of all transcript variants is not currently known. [provided by RefSeq, Jul 2008]   | Chromosome | 14 |
| Location | 14q23.3 |
| Start | 66507407   |
| End | 67181808   |
| Strand | +   |
| Gene Sequence |    Download   Select all |
| Length | 674402   |
| OMIM ID | 603930    |
| HGNC ID | HGNC:15465    |
| Unigene ID | Hs.208765     |
| Ensembl ID | ENSG00000171723    |
| PharmGKB ID | -    |
mRNA Information
| mRNA ID | NM_020806.4 |
|---|---|
| Exon | join(1..1185,173701..173779,269058..269115,317068..317160, 372533..372627,408597..408663,415260..415532, 416788..416886,457785..457919,516227..516269, 551243..551380,581577..581669,593450..593505, 602734..602853,604455..604513,605612..605765, 614850..614971,635956..636043,652009..652082, 657756..657820,661527..661630,672172..672268, 673398..674402)   | mRNA Sequence |    Download   Select all |
| Length | 4318   |
CDS Information
| Location | join(1122..1185,173701..173779,269058..269115, 317068..317160,335272..335310,372533..372627, 408597..408663,415260..415532,416788..416886, 457785..457919,478276..478332,480530..480601, 516227..516269,551243..551380,581577..581669, 593450..593505,602734..602853,604455..604513, 605612..605765,614850..614971,635956..636043, 652009..652082,657756..657820, |
|---|---|
| CDS Sequence |    Download   Select all |
| CCDS ID | - |    
Protein Information
| Protein ID | NP_001019389.1 |
|---|---|
| Protein Name | Gephyrin |
| Molecular Wt. (Da) | 79618 |
| Protein Sequence |    Download   Select all |
| Length | 736   |
| Uniprot ID | P01588 |    
| Ensembl Protein ID | ENSP00000252723   |    
Post-translational Modification Information (Source : HPRD)
| Residue | Type | site |
|---|---|---|
| S | Phosphorylation | 188;- |
| S | Phosphorylation | 188;- |
| S | Phosphorylation | 194;- |
| S | Phosphorylation | 194;- |
| T | Phosphorylation | 198;- |
| T | Phosphorylation | 198;- |
| S | Phosphorylation | 200;- |
| T | Phosphorylation | 199;- |
| S | Phosphorylation | 200;- |
| T | Phosphorylation | 199;- |
| T | Phosphorylation | 299 |
| S | Phosphorylation | 303 |
| T | Phosphorylation | 266 |
| S | Phosphorylation | 270 |
| S | Phosphorylation | 310 |
| S | Phosphorylation | 316 |
| T | Phosphorylation | 319 |
| S | Phosphorylation | 277 |
| S | Phosphorylation | 283 |
| T | Phosphorylation | 286 |
| K | Acetylation | 498 |
| K | Acetylation | 465 |
| T | Phosphorylation | 139 |
| T | Phosphorylation | 139 |
| S | Phosphorylation | 338 |
| S | Phosphorylation | 305 |
| S | Phosphorylation | 147 |
| S | Phosphorylation | 147 |
| S | Phosphorylation | 283 |
| S | Phosphorylation | 250 |
| S | Phosphorylation | 301 |
| S | Phosphorylation | 268 |
| T | Phosphorylation | 640 |
| T | Phosphorylation | 607 |
Enzyme Information
No matching records could be found.
PPi Information
(Click to view network : Source STRING)      View   
| Interactant Gene ID (Source: HPRD) | Gene Symbol | HPRD ID | Ref Seq ID | Technique | References |
|---|---|---|---|---|---|
| 2475 |    MTOR |    3134 |    NP_004949.1 |    in vitro;in vivo;yeast 2-hybrid |    10325225    |
| 2743 |    GLRB |    11751 |    NP_000815.1 |    in vitro;in vivo |    7546736    |
| 5216 |    PFN1 |    1452 |    NP_005013.1 |    in vitro |    9473484    |
| 5300 |    PIN1 |    3031 |    NP_006212.1 |    in vitro;in vivo |    17347650    |
| 7277 |    TUBA4A |    1851 |    NP_005991.1 |    in vitro;in vivo |    1657993    |
| 8655 |    DYNLL1 |    3334 |    NP_003737.1 |    in vitro;yeast 2-hybrid |    1   476   070   312   097   490    |
| 23229 |    ARHGEF9 |    2337 |    NP_056000.1 |    in vitro;in vivo;yeast 2-hybrid |    1   060   739   111   727   820    |
| 140735 |    DYNLL2 |    6489 |    NP_542408.1 |    in vitro |    12097491    |
Pathway Information
| Pathway Name | Pathway ID |
|---|---|
| GABAergic synapse |    hsa04727 |    
Structure Information
| PDB ID | 1JLJ |
|---|---|
| Resolution | 1.6 |
| Method | X-RAY DIFFRACTION |
| Chains | A,B,C   |
| Molecule | gephyrin   |
| Model | View |
Domain Information
| ID | Location | Description |
|---|---|---|
| cd00887 | 327-733  | MoeA |
| cl00451 | 327-733  | MoCF_BD superfamily |
| cd00886 | 15-169  | MogA_MoaB |
| cl00451 | 15-169  | MoCF_BD superfamily |
| pfam03453 | 323-489  | MoeA_N |
| cl04083 | 323-489  | MoeA_N superfamily |
| COG0521 | 15-169  | MoaB |
| PRK09417 | 15-169  | mogA |
| cd00758 | 16-162  | MoCF_BD |
| TIGR00177 | 15-160  | molyb_syn |
| cd00758 | 501-643  | MoCF_BD |
| pfam00994 | 502-645  | MoCF_biosynth |
| TIGR00177 | 499-641  | molyb_syn |
| smart00852 | 502-638  | MoCF_biosynth |
| smart00852 | 18-158  | MoCF_biosynth |
| pfam00994 | 18-164  | MoCF_biosynth |
| TIGR02667 | 15-150  | moaB_proteo |
| pfam03454 | 658-733  | MoeA_C |
| cl08391 | 658-733  | MoeA_C superfamily |
| cd00885 | 501-573  | cinA |
| cd00887 | 39-177  | MoeA |
| cd03522 | 16-137  | MoeA_like |
| cd00886 | 530-643  | MogA_MoaB |
| COG0521 | 492-652  | MoaB |
| PRK03670 | 509-574  | PRK03670 |
| COG0303 | 321-730  | MoeA |
| PLN02699 | 323-713  | PLN02699 |
| PRK14498 | 337-730  | PRK14498 |
| PRK14491 | 337-718  | PRK14491 |
| PRK10680 | 323-712  | PRK10680 |
| PRK14497 | 335-732  | PRK14497 |
| PLN02699 | 12-170  | PLN02699 |
| PRK14690 | 324-713  | PRK14690 |
| PRK03604 | 15-171  | moaC |
| COG1058 | 501-573  | CinA |
| COG0303 | 49-177  | MoeA |
| TIGR00200 | 509-574  | cinA_nterm |
| PRK00549 | 503-586  | PRK00549 |
| PRK03673 | 501-573  | PRK03673 |
| PRK01215 | 499-573  | PRK01215 |
| PRK03604 | 520-643  | moaC |
Ontology Information
| HPRD ID | 1820 |    
|---|---|
| Molecular Class | Unclassified |
| Molecular Function | Transmembrane receptor protein tyrosine kinase activity (GO:0004714) |
| Biological Process | Cell communication (GO:0007154); Signal transduction (GO:0007165)   |
Drug Information
No matching records could be found.
External Links
| ArrayExpress | GO |    
|---|---|
| ICGC | GO |    
| Cancer3D | GO |    
| COSMIC | GO |    
| NCG | GO |    
| TSGene | GO |    
| Tumor Gene Family of Databases | GO |    
| CCDB | GO |    
| G2SBC | GO |    
| Osteosarcoma Database | GO |    
| RCDB | GO |    
