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 enable molybdopterin molybdotransferase activity. Acts upstream of or within glycine receptor clustering. Predicted to be located in cytoskeleton; plasma membrane; and postsynaptic density. Predicted to be active in several cellular components, including dendrite; postsynaptic membrane; and postsynaptic specialization. Is expressed in head; myotome; rhombomere; spinal cord; and spinal cord interneuron. Human ortholog(s) of this gene implicated in inherited metabolic disorder and molybdenum cofactor deficiency type C. 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
Allele Type Localization Consequence Mutagen Supplier
sa36467Allele with one point mutationUnknownSplice SiteENU
sa42972Allele with one point mutationUnknownSplice SiteENU
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Sequence Targeting Reagents
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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
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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
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Domain Details Per Protein
Protein Additional Resources 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 InterPro 595
UniProtKB:D3KYL0 InterPro 834
UniProtKB:A0A8M9PE95 InterPro 574
UniProtKB:A0A8M6Z1J0 InterPro 808
UniProtKB:D3KYK9 InterPro 795
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 17
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA gphna-201 (1) Ensembl 5,300 nt
mRNA gphna-202 (1) Ensembl 5,480 nt
mRNA gphna-203 (1) Ensembl 2,261 nt
mRNA gphna-204 (1) Ensembl 2,441 nt
mRNA gphna-205 (1) Ensembl 5,582 nt
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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
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Plasmids
No data available
Constructs
Construct Regulatory Region Coding Sequence Species Tg Lines Citations
Tg(UAS:FLAG-gphna-2A-mCherry)
  • Danio rerio
1Ogino et al., 2019
Tg(UAS:FLAG-gphna_S325D-2A-mCherry)
  • Danio rerio
1Ogino et al., 2019
Tg(UAS:Venus-gphna)
  • Danio rerio
1Ogino et al., 2019
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Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACCH73-209D8ZFIN Curated Data
Contained inBACCH73-307J4ZFIN Curated Data
Contained inBACDKEY-25L21ZFIN Curated Data
Contained inFosmidCH1073-88I8
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanGPHN14
Conserved genome location (synteny) (1)
Amino acid sequence comparison (1)
MouseGphn12
Amino acid sequence comparison (1)
Conserved genome location (synteny) (1)
Citations
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