TBC1D25 (TBC1 domain family member 25)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 4943
Gene name TBC1 domain family member 25
Gene symbol TBC1D25
Synonyms (NCBI Gene)
MG81OATL1
Chromosome X
Chromosome location Xp11.23
Summary This gene encodes a protein with a TBC domain and functions as a Rab GTPase activating protein. The encoded protein is involved in the fusion of autophagosomes with endosomes and lysosomes. This gene was previously known as ornithine aminotransferase-like
miRNA miRNA information provided by mirtarbase database.
114
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (114)
miRTarBase ID miRNA Experiments Reference
MIRT031139 hsa-miR-19b-3p Sequencing 20371350
MIRT036096 hsa-miR-1296-5p CLASH 23622248
MIRT662792 hsa-miR-3675-3p HITS-CLIP 23824327
MIRT662791 hsa-miR-873-5p HITS-CLIP 23824327
MIRT662790 hsa-miR-6870-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (13)
GO ID Ontology Definition Evidence Reference
GO:0005096 Function GTPase activator activity IBA
GO:0005096 Function GTPase activator activity IDA 21383079
GO:0005096 Function GTPase activator activity IEA
GO:0005515 Function Protein binding IPI 21383079, 22354992, 28514442, 32296183, 33961781
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
311240 8092 ENSG00000068354
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q3MII6
Protein name TBC1 domain family member 25
Protein function Acts as a GTPase-activating protein specific for RAB33B. Involved in the regulation of autophagosome maturation, the process in which autophagosomes fuse with endosomes and lysosomes.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00566 RabGAP-TBC 231 → 436 Rab-GTPase-TBC domain Family
Sequence 
MATASGASDLSGSGAPPPGVGAQAAAAAEEEEREVVRVRVKKCESFLPPEFRSFAVDPQI
TSLDVLQHILIRAFDLSGKKNFGISYLGRDRLGQEVYLSLLSDWDLSTAFATASKPYLQL
RVDIRPSEDSPLLEDWDIISPKDVIGSDVLLAEKRSSLTTAALPFTQSILTQVGRTLSKV
QQVLSWSYGEDVKPFKPPLSDAEFHTYLNHEGQLSRPEELRLRIYHGGVEPSLRKVVWRY
LLNVYPDGLTGRERMDYMKRKSREYEQLKSEWAQRANPEDLEFIRSTVLKDVLRTDRAHP
YYAGPEDGPHLRALHDLLTTYAVTHPQVSYCQGMSDLASPILAVMDHEGHAFVCFCGIMK
RLAANFHPDGRAMATKFAHLKLLLRHADPDFYQYLQEAGADDLFFCYRWLLLELKREFAF
DDALRMLEVTWSSLPPDPPEHEVELVGPPSQVADAGFGGHRGWPVRQRHMLRPAGGGGST
FEDAVDHLATASQGPGGGGRLLRQASLDGLQQLRDNMGSRRDPLVQLPHPAALISSKSLS
EPLLNSPDPLLSSFSHPDSPSSSSPPSTQEASPTGDMAVGSPLMQEVGSPKDPGKSLPPV
PPMGLPPPQEFGRGNPFMLFLCLAILLEHRDHIMRNGLDYNELAMHFDRLVRKHHLGRVL
RRARALFADYLQSEVWDSEEGAEATAAS
Sequence length 688
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    TBC/RABGAPs
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Oligospermia Likely pathogenic rs1602125411 RCV001007957
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (3)
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
Abnormality of neuronal migration Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MOOD DISORDERS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (8)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alveolar Soft Part Sarcoma Alveolar Sarcoma BEFREE 11244503
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 21152090
★★★★★
★☆☆☆☆
Found in Text Mining only
Mental Retardation, X-Linked 9 Mental retardation BEFREE 8288232
★★★★★
★☆☆☆☆
Found in Text Mining only
Mood Disorders Mood Disorder PSYGENET_DG 21152090
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Neoplasms Neoplasms BEFREE 7790992, 8174096
★★★★★
★☆☆☆☆
Found in Text Mining only
Papillary Renal Cell Carcinoma Papillary Renal Carcinoma BEFREE 8406438
★★★★★
★☆☆☆☆
Found in Text Mining only
synovial sarcoma Synovial sarcoma BEFREE 7682104
★★★★★
★☆☆☆☆
Found in Text Mining only
Wiskott-Aldrich Syndrome Wiskott-Aldrich Syndrome BEFREE 1346773, 8530079
★★★★★
★☆☆☆☆
Found in Text Mining only