Gene Gene information from NCBI Gene database.
Entrez ID 645961
Gene name SPATA31 subfamily C member 2
Gene symbol SPATA31C2
Synonyms (NCBI Gene)
FAM75C2
Chromosome 9
Chromosome location 9q22.1
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
3
GO ID Ontology Definition Evidence Reference
GO:0007283 Process Spermatogenesis IEA
GO:0016020 Component Membrane IEA
GO:0030154 Process Cell differentiation IEA
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.
B4DYI2
Protein name Spermatogenesis-associated protein 31C2 (Protein FAM75C2)
Protein function May play a role in spermatogenesis.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15371 DUF4599 77 163 Domain of unknown function (DUF4599) Family
PF14650 FAM75 278 600 FAM75 family Family
Sequence
MENLPFPLKLLSASSLNTPSSTPWVLDIFLTLVFALGFFFLLLPYFSYLRCDNPPSPSPK
KRKRHLVSQRPAGRRGRPRGRMKNHSLRACRECPRGLEETWDLLSQLQSLLGPHLEKGDF
GQLSGPDPPGEVGKRTPDGASRSSHEPTEDAAPIVSPLASPDP
RTKHPQDLASTPPPGPM
TTSVSSLSASQPPEPSLLLEHPSPEPPALFPHPPRTPDPLACSPPPPKGFTPPPLRDSTL
LTPSHCDSVALPLDTVPQSLSPREDLAASVPGISGLGGSNSQVSALSWSQETTKTWCVFN
SSVQQDHLSRQRDTTMSPLLFQAQPLSHLEPESQPFISSTPQFWPTPMAQAEAQAHLQSS
FPVLSPAFLSPMKNTGVACPASQNKVQALSLPETQHPERPLLKKQLEGGLALPSRVQKSQ
DVFSVSTPNLPQERLTSILPENFPVSPELWRQLEQHMGQRGRIQESLDLMQLQDELPGTS
QAKGKPRPWQSSTSTGESSKEAQTVKFQLERDPCPHLGQILGETPQNLSRGMESFPGKVL
GATSEESERNLRKPLRSDSGSDLLRRTERNHIENILKAHMSRKLGQTNEGLIPVSVRRSW

LAVNQAFPVSNTHVKTSNLAAPKSRKACVNTAQVLSFLEPCTQQVLGAHIVRFWAKHRWG
LPLRVLKPIQCFQLEKVSSLSLIQLAGPSSDTCESGAGSKVEVATFLGEPPMASLRKQVL
TKPSVHMPERLQASSPACKQFQRAPRGIPSSNDHGSLKAPTAGQEGRWPSKPLTYSLTGS
TQQSRSLGAQSSRAGETREAVPQPTVPLGTCMRANLQATSEDVRGFKAPGASKSSLLPRM
SVSQDPRKLCLMEEAVSEFEPGKATKSETQPQVSATVVLLPDGQASVVPHASENLASQVP
QGHLQSMPTGNMQASQELCDLMSARRSNMGHKEPRNPNCQGSCKSQSPMFPPTHKRENSR
KPNLEKHEEMFQGLRTPQLTPGRKTEDTRQNEGVQLLPSKKQPPSISHFGENIKQFFQTI
FSKKERKPAPVTAESQKTVKNRSCVYGSSAEAERLMTAVGQILEENMSLCHARHASKVNQ
QRQQFQAPVCGFPCNHRHPFYSEHSRMLSYAASSQQATLKNQSRPNRDRQIRDQ
Sequence length 1134
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
GOUT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PSORIASIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations