Log in to bookmark this gene

Bookmark This Gene

Gene Gene information from NCBI Gene database.
Entrez ID 64149
Gene name Chromosome 17 open reading frame 75
Gene symbol C17orf75
Synonyms (NCBI Gene)
NJMU-R1SRI2
Chromosome 17
Chromosome location 17q11.2
miRNA miRNA information provided by mirtarbase database.
711 Show/Hide all (711)
miRTarBase ID miRNA Experiments Reference
MIRT031983 hsa-miR-16-5p Proteomics 18668040
MIRT720470 hsa-miR-4639-3p HITS-CLIP 19536157
MIRT720469 hsa-miR-4691-3p HITS-CLIP 19536157
MIRT720468 hsa-miR-6777-3p HITS-CLIP 19536157
MIRT720467 hsa-miR-1304-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13 Show/Hide all (13)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 29084197, 29426865, 32296183
GO:0005794 Component Golgi apparatus IDA
GO:0005794 Component Golgi apparatus IEA
GO:0005802 Component Trans-Golgi network IBA
GO:0005802 Component Trans-Golgi network IDA 29426865
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9HAS0
Protein name Protein Njmu-R1
Protein function As component of the WDR11 complex acts together with TBC1D23 to facilitate the golgin-mediated capture of vesicles generated using AP-1 (PubMed:29426865). May have a role in spermatogenesis.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15053 Njmu-R1 38 → 390 Mjmu-R1-like protein family Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in testis and also expressed in fetal testis.
Sequence
Sequence length 396
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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 Reference Evidence Score
Familial cancer of breast Uncertain significance ClinVar —
★★★★★
★★☆☆☆
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
Orofaciodigital Syndromes Orofaciodigital syndrome Pubtator 36084634 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Retinoblastoma Retinoblastoma Pubtator 17604597 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only