Gene Gene information from NCBI Gene database.
Entrez ID 51555
Gene name Peroxisomal biogenesis factor 5 like
Gene symbol PEX5L
Synonyms (NCBI Gene)
PEX5RPEX5RPPXR2PXR2BTRIP8b
Chromosome 3
Chromosome location 3q26.33
miRNA miRNA information provided by mirtarbase database.
264
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611058 30024 ENSG00000114757
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Colorectal Carcinoma Colorectal Cancer UNIPROT_DG
★☆☆☆☆
Found in Text Mining only
Depressive disorder Mental Depression PSYGENET_DG 21593326
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Depressive disorder Mental Depression BEFREE 30448761
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus GWASCAT_DG 28736931
★☆☆☆☆
Found in Text Mining only
Epilepsy, Temporal Lobe Epilepsy BEFREE 31492750
★☆☆☆☆
Found in Text Mining only
Major Depressive Disorder Mental Depression BEFREE 27400855
★☆☆☆☆
Found in Text Mining only
Mental Depression Mental Depression PSYGENET_DG 21593326
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Mental Depression Mental Depression BEFREE 30448761
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Peroxisome biogenesis disorders Zellweger Syndrome GENOMICS_ENGLAND_DG
★☆☆☆☆
Found in Text Mining only
Zellweger Spectrum Zellweger Syndrome BEFREE 26220973
★☆☆☆☆
Found in Text Mining only