Gene

gphna

ID
ZDB-GENE-110127-3
Name
gephyrin a
Symbol
gphna Nomenclature History
Previous Names
None
Type
protein_coding_gene
Location
Chr: 17 Mapping Details/Browsers
Description
Predicted to have molybdopterin adenylyltransferase activity and molybdopterin molybdotransferase activity. Involved in glycine receptor clustering. Predicted to localize to several cellular components, including dendrite; postsynaptic membrane; and postsynaptic specialization. Human ortholog(s) of this gene implicated in inherited metabolic disorder and molybdenum cofactor deficiency type C. Is expressed in head; myotome; rhombomere; spinal cord; and spinal cord interneuron. Orthologous to human GPHN (gephyrin).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
4 figures from Ogino et al., 2011
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With gphna Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
molybdenum cofactor deficiency type C Alliance Molybdenum cofactor deficiency C 615501
Associated With gphna Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR008284 Molybdenum cofactor biosynthesis, conserved site
Domain IPR001453 MoaB/Mog domain
Domain IPR005110 MoeA, N-terminal and linker domain
Domain IPR005111 MoeA, C-terminal, domain IV
Family IPR038987 Molybdopterin biosynthesis protein MoeA-like
Homologous_superfamily IPR036135 MoeA, N-terminal and linker domain superfamily
Homologous_superfamily IPR036425 MoaB/Mog-like domain superfamily
Homologous_superfamily IPR036688 MoeA, C-terminal, domain IV superfamily
Domain Details Per Protein
Protein Length MoaB/Mog domain MoaB/Mog-like domain superfamily MoeA, C-terminal, domain IV MoeA, C-terminal, domain IV superfamily MoeA, N-terminal and linker domain MoeA, N-terminal and linker domain superfamily Molybdenum cofactor biosynthesis, conserved site Molybdopterin biosynthesis protein MoeA-like
UniProtKB:A0A8M9P061 595
UniProtKB:D3KYL0 834
UniProtKB:A0A8M9PE95 574
UniProtKB:A0A8M6Z1J0 808
UniProtKB:D3KYK9 795
UniProtKB:A0A8M9PKR1 899
UniProtKB:A0A8M9PKR6 860
UniProtKB:A0A8M9P8X5 886
UniProtKB:D3KYK7 735
UniProtKB:A0A8M9PNS6 560
UniProtKB:A0A8M9PNR5 906
UniProtKB:A0A8M9PKS3 535
UniProtKB:A0A8M9PE84 920
UniProtKB:A0A8M9P8Y1 581
UniProtKB:A0A0R4INA6 868
UniProtKB:A0A8M9PNS0 881
UniProtKB:A0A8M9PE88 885
UniProtKB:D3KYK8 774
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab2-gphn monoclonal IgG1 Mouse
  • IHC
  • WB
BD Biosciences
4
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations