Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51555
Gene name Gene Name - the full gene name approved by the HGNC.
Peroxisomal biogenesis factor 5 like
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PEX5L
Synonyms (NCBI Gene) Gene synonyms aliases
PEX5R, PEX5RP, PXR2, PXR2B, TRIP8b
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q26.33
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT029375 hsa-miR-26b-5p Microarray 19088304
MIRT389969 hsa-miR-5011-5p HITS-CLIP 21572407
MIRT521979 hsa-miR-138-1-3p HITS-CLIP 21572407
MIRT521977 hsa-miR-3682-5p HITS-CLIP 21572407
MIRT521978 hsa-miR-190a-3p HITS-CLIP 21572407
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000268 Function Peroxisome targeting sequence binding IDA 18346465
GO:0005052 Function Peroxisome matrix targeting signal-1 binding IBA
GO:0005052 Function Peroxisome matrix targeting signal-1 binding IDA 11463335
GO:0005515 Function Protein binding IPI 25800552
GO:0005737 Component Cytoplasm IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611058 30024 ENSG00000114757
Protein
UniProt ID Q8IYB4
Protein name PEX5-related protein (PEX2-related protein) (PEX5-like protein) (Peroxin-5-related protein) (Peroxisome biogenesis factor 5-like) (Tetratricopeptide repeat-containing Rab8b-interacting protein) (Pex5Rp) (TRIP8b)
Protein function Accessory subunit of hyperpolarization-activated cyclic nucleotide-gated (HCN) channels, regulating their cell-surface expression and cyclic nucleotide dependence.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13181 TPR_8 360 393 Tetratricopeptide repeat Repeat
PF13432 TPR_16 487 540 Family
PF13181 TPR_8 542 575 Tetratricopeptide repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Mainly expressed in brain. Also expressed in pancreas, testis and pituitary. {ECO:0000269|PubMed:11463335}.
Sequence
MYQGHMQKSKEQGYGKLSSDEDLEIIVDQKQGKGSRAADKAVAMVMKEIPREESAEEKPL
LTMTSQLVNEQQESRPLLSPSIDDFLCETKSEAIARPVTSNTAVLTTGLDLLDLSEPVSQ
TQTKAKKSEPSSKTSSLKKKADGSDLISTDAEQRGQPLRVPETSSLDLDIQTQLEKWDDV
KFHGDRNTKGHPMAERKSSSSRTGSKELLWSSEHRSQPELSGGKSALNSESASELELVAP
TQARLTKEHRWGSALLSRNHSLEEEFERAKAAVESDTEFWDKMQAEWEEMARRNWISENQ
EAQNQVTISASEKGYYFHTENPFKDWPGAFEEGLKRLKEGDLPVTILFMEAAILQDPGDA
EAWQFLGITQAENENEQAAIVALQRCLELQPNN
LKALMALAVSYTNTGHQQDACDALKNW
IKQNPKYKYLVKSKKGSPGLTRRMSKSPVDSSVLEGVKELYLEAAHQNGDMIDPDLQTGL
GVLFHLSGEFNRAIDAFNAALTVRPEDYSLWNRLGATLANGDRSEEAVEAYTRALEIQPG
FIRSRYNLGISCINLGAYREAVSNFLTALSLQRKSRNQQQVPHPAISGNIWAALRIALSL
MDQPELFQAANLGDLDVLLRAFNLDP
Sequence length 626
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Peroxisome  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Bipolar Disorder Bipolar disorder N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Infections Associate 34524914