Gene Gene information from NCBI Gene database.
Entrez ID 171484
Gene name Family with sequence similarity 9 member C
Gene symbol FAM9C
Synonyms (NCBI Gene)
TEX39C
Chromosome X
Chromosome location Xp22.2
Summary This gene is a member of a gene family which arose through duplication on the X chromosome. The encoded protein may be localized to the nucleus as the protein contains several nuclear localization signals, and has similarity to a synaptonemal complex prot
miRNA miRNA information provided by mirtarbase database.
209
miRTarBase ID miRNA Experiments Reference
MIRT720588 hsa-miR-6072 HITS-CLIP 19536157
MIRT720587 hsa-miR-6891-3p HITS-CLIP 19536157
MIRT720586 hsa-miR-6734-3p HITS-CLIP 19536157
MIRT720585 hsa-miR-3667-3p HITS-CLIP 19536157
MIRT720584 hsa-miR-136-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
GO ID Ontology Definition Evidence Reference
GO:0000795 Component Synaptonemal complex IBA
GO:0005515 Function Protein binding IPI 25416956, 32296183, 33961781
GO:0005634 Component Nucleus IEA
GO:0007286 Process Spermatid development IBA
GO:0051321 Process Meiotic cell cycle IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300479 18405 ENSG00000187268
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IZT9
Protein name Protein FAM9C
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04803 Cor1 76 163 Cor1/Xlr/Xmr conserved region Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Expressed exclusively in testis. {ECO:0000269|PubMed:12213195}.
Sequence
MAAKDQLEVQVMAAQEMELAGKDPVSHEHEERKPVTETKEGDVTDEHGERGSFAETDEHT
GVDTKELEDIAADIKEHLAAKRKRIEKIAKACSEIKNRIKNVLRTTQLKRQKRDYRISLK
LPNVLEEFITDEQKDEEGDGEKEEQIKIFQEQQKRWQQDGKGT
ERD
Sequence length 166
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SEVERE ACUTE RESPIRATORY SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Azoospermia Nonobstructive Associate 36017582
★☆☆☆☆
Found in Text Mining only