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Gene Gene information from NCBI Gene database.
Entrez ID 389762
Gene name SPATA31 subfamily D member 3
Gene symbol SPATA31D3
Synonyms (NCBI Gene)
FAM75D3
Chromosome 9
Chromosome location 9q21.32
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.
P0C874
Protein name Spermatogenesis-associated protein 31D3 (Protein FAM75D3)
Protein function May play a role in spermatogenesis.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14650 FAM75 481 → 851 FAM75 family Family
PF15371 DUF4599 66 → 161 Domain of unknown function (DUF4599) Family
Sequence
MENILCFLNSYTETGLSPDSHCLDIDLNFICLSGLGLFILYLFYMVLTLYSSPTEKNNDT
QKHQGRARRKRKSVTFKDRKSLQKEAEEERKLHSFLKSFGPPVSCSPLGQHHDTTLFRRL
LCPDPVCRVCNRATADIQRLLSWESLKDAAPSVSPLASSAS
GAESSFTLASTPSATTPED
LILSSRPKPSPPPPLILSPDLITTLADLFSPSPLRDPLPPQPVSPLDSKFPIDHSPPQQL
PFPLLPPHHIERVEPSLQPEASLSLNTIFSFGSTLCQDISQAVNRTDSCARHHGPPTPSA
LPPEDCTVTQSKSNLTVLKTFPEMLSLGGSGGSSTSAPTTKGIDHSCPASSEFSWWQPHA
KDSFSSNFVPSDFMEELLTLHSSEASLGGHSVANIIQPVNISFLSHDIPALLERQVKRRG
DFLMWKENGKKPGSFPTQLRPNYQLNSSRNMLTSTAVKHDLAESFPFWASKGKLEWQHIH
QQPPYSKCFEDHLEQKYVQLFWGLPSLHSESLHPTVFVQHGRSSMFVFFNGITNTSMSHE
SPVLPPPQPLFLPSTQPLPLPQTLPRGQSLHLTQVKSLAQPQSPFPALPPSPLFLIRVCG
VCFHRPQNEARSLMPSEINHLEWNVLQKVQESVWGLPSVVQKSQEDFCPPAPNPVLVRKS
FKVHVPISIIPGDFPLSSEVRKKLEQHIRKRLIQRRWGLPRRIHESLSLLRPQNKISELS
VSESIHGPLNISLVEGQRCNVLKKSASSFPRSFHERSSNMLSMENVGNYQGCSQETAPKN
HLLHDPETSSEEDLRSNSERDLGTHMMHLSGNDSGVRLGQKQLENALTVHLSKKFEEINE
GRMPGTVHSSW
HSVKQTICLPEKSHSQIKHRNLAALVSEDHRVDTSQEMSFLSSNKQKML
EAHIKSFHMKPILNLSI
Sequence length 917
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
TOOTH DISEASE — GWAS catalog 40465716
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations