GPHN
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Homo sapiens |
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GPHN is differentially expressed in 248 experiments: 116 organism parts: bone marrow, liver, ... (114 more);, 175 disease states: normal, colon carcinoma, ... (173 more);, 71 cell types 436 cell lines 40 compound treatments and 70 other conditions. |
| Synonyms |
KIAA1385 |
| Orthologs |
Gphn
(Rattus norvegicus)
ENSCING00000002784
(Ciona intestinalis)
GPHN
(Bos taurus)
GPHN
(Gallus gallus)
Gphn
(Mus musculus)
gphnb
(Danio rerio)
GPHN (2 of 2)
(Danio rerio)
cin
(Drosophila melanogaster)
gphn
(Xenopus laevis)
GPHN
(Canis familiaris)
(Compare orthologs)
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| Gene Ontology Term |
plasma membrane, molybdopterin cofactor biosynthetic process, cytoskeleton, cytoplasm, intracellular, postsynaptic membrane, metal ion binding, cell junction, Mo-molybdopterin cofactor biosynthetic process, ATP binding, nucleotide binding, synapse, transferase activity, vitamin metabolic process, establishment of synaptic specificity at neuromuscular junction, water-soluble vitamin metabolic process |
| InterPro ID |
IPR001453, IPR020817, IPR005111, IPR005110 |
| InterPro Term |
MoeA_linker/N, MoeA_C_domain_IV, Mo_cofactor_synthesis, Mopterin-bd |
| Gene Ontology ID |
GO:0016740, GO:0005622, GO:0005524, GO:0005737, GO:0005886, GO:0005856, GO:0006777, GO:0000166, GO:0046872, GO:0045202, GO:0045211, GO:0030054, GO:0032324, GO:0007529, GO:0006766, GO:0006767 |
| Ensembl Family Description |
MOLYBDOPTERIN ADENYLYLTRANSFERASE MPT ADENYLYLTRANSFERASE EC_2.7.7.- N5 DOMAIN G ; MOLYBDOPTERIN MOLYBDENUMTRANSFERASE MPT MO TRANSFERASE EC 2 DOMAIN E ] |
| Ensembl Family |
ENSFM00570000851200 |
| Description |
gephyrin [Source:HGNC Symbol;Acc:15465] |
| RefSeq ID |
NP_001019389, NM_020806, NM_001024218, NP_065857 |
| UniGene ID |
Hs.615368, Hs.208765 |
| Ensembl Gene ID |
ENSG00000171723 |
| EMBL-Bank ID |
AF272663, BC030016, AB037806, AJ272343, AL117667, AL133241, AL355093, AL135978, AL139295, AL159179, AL049835 |
| UniProt Accession |
Q9NQX3, F5H2D3, F5H039, F8W7D6 |
| Gene-Disease Assocation |
MOLYBDENUM COFACTOR DEFICIENCY, HYPEREKPLEXIA, HEREDITARY |
| Entrez Gene ID |
10243 |
| Ensembl Protein ID |
ENSP00000303019, ENSP00000312771, ENSP00000417901, ENSP00000450706, ENSP00000452009, ENSP00000452220, ENSP00000450442, ENSP00000451056, ENSP00000451935, ENSP00000451790, ENSP00000451725, ENSP00000438404 |
| HGNC Symbol |
GPHN |
| Ensembl Transcript ID |
ENST00000556501, ENST00000556633, ENST00000556020, ENST00000556240, ENST00000543237, ENST00000553936, ENST00000478722, ENST00000305960, ENST00000544752, ENST00000557678, ENST00000557654, ENST00000555456, ENST00000555527, ENST00000555503, ENST00000459628, ENST00000555668, ENST00000315266 |
| Design Element |
234941_s_at, ENST00000305960, ENST00000556020, ENST00000555668, ENST00000556240, ENST00000556501, ENST00000555456, 223319_at, ENST00000543237, g8926307_3p_at, gnf1h09545_s_at, ENST00000315266, ENST00000459628, ENST00000556633, 220773_s_at, ENST00000557654, ENST00000478722, Hs.13405.2.S1_3p_x_at, g10880982_3p_a_at, ENST00000557678, ENST00000555527, ENST00000555503, 65178_at, ENST00000544752, ENST00000553936, Hs.13405.2.S1_3p_a_at |
| Search EB-eye |
ENSG00000171723
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