GDF5-AS1 (GDF5 antisense RNA 1)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
554250
Gene name Gene Name - the full gene name approved by the HGNC.
GDF5 antisense RNA 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GDF5-AS1
Synonyms (NCBI Gene) Gene synonyms aliases
GDF5OS
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20q11.22
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(2)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005739 Component Mitochondrion IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
HGNC 33435 N/A
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Q5U4N7
Protein name Protein GDF5-AS1, mitochondrial (GDF5 antisense RNA 1) (Growth/differentiation factor 5 opposite strand transcript protein)
Family and domains
Sequence 
MIQSSQPMSLKLTCSAFRLQRALRFLLGRLPWRVASGARRFRRWLNRYSYTVLSSWPERA
LISLKNRSRFLVRPNTRNRAFSWTCRAARSKPRPRRSTALPRSQASSSRHSWAEFLKFRK
SFQMSNTSQPDPSRPGTERTSSKEAGCRPLGQLDSFSWAARPPPGAAGLAVSEGFFRKIR
SSAPSSPSFSRALMSNTYLCFLTTGPRSSRENTQKSFPATSPREPVTSRLRGKAPALSPS
RELSFTSAPF
Sequence length 250
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (4)
Causal
Disease term Disease name dbSNP ID References
Brachydactyly BRACHYDACTYLY, TYPE A2, Brachydactyly type C, BRACHYDACTYLY, TYPE A1, C rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852
View all (22 more)
Chondrodysplasia punctata Chondrodysplasia, Grebe type rs80338714, rs398122843, rs121434599, rs121434604, rs2107055197, rs2089231699 12900894
Multiple synostoses syndrome MULTIPLE SYNOSTOSES SYNDROME 2 rs74315386, rs74315388, rs121909347, rs121918322, rs1555223925, rs1554571213
Symphalangism SYMPHALANGISM, PROXIMAL, 1B rs28936683, rs74315388, rs74315389, rs121909349