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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
PF14650 FAM75 278 → 600 FAM75 family Family
PF15371 DUF4599 77 → 163 Domain of unknown function (DUF4599) 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 Reference Evidence Score
GOUT — GWAS catalog 35148957
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PSORIASIS — GWAS catalog 25854761
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS — GWAS catalog 38374256
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations