SPMIP7 (sperm microtubule inner protein 7)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
100130988
Gene name Gene Name - the full gene name approved by the HGNC.
Sperm microtubule inner protein 7
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SPMIP7
Synonyms (NCBI Gene) Gene synonyms aliases
C7orf72, SPATA48
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p12.2
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(4)
GO ID Ontology Definition Evidence Reference
GO:0007283 Process Spermatogenesis IBA
GO:0007283 Process Spermatogenesis IEA
GO:0007283 Process Spermatogenesis ISS
GO:0030154 Process Cell differentiation IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID A4D263
Protein name Protein SPMIP7 (Sperm microtubule inner protein 7) (Spermatogenesis-associated protein 48)
Protein function Essential for normal spermatogenesis.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15073 SPATA48 307 → 434 Family
Tissue specificity TISSUE SPECIFICITY: Testis-specific. {ECO:0000269|PubMed:29700843, ECO:0000269|PubMed:36896575}.
Sequence 
MDVEIQDTPGKISISKRSILSGTVENIDYPHYCDLLRKMNMPFVKGLENRHNYGRFEKKC
NPAFLKFHPYPPSVLPDYHLHDPYPPPYGPHYPLFPLRDDVTLGDSCSGFMSPGGDADLN
PGIGRTIPTLVDFSDVKPQHRVPRPDTGFQTTIKRQKILSEELQQNRRWNSREVPDISIR
ARLGGWTSPLKVTPLQPHHEGRSLSHIFTFDEEATCTDEGEPLVQTNKKCNAKDSFYKSS
TQKAYEDVPWDKMLPPKLVPEETTLEKTADPISQCFTLKRYKGVPAITQMVGELWDRFQT
RSFLAPVKPINFVSSSSRSKYIPLYTGHVQSTNADDVDNPLGDIASLAKQRYSKPLYTNT
SRAANIPGYTGKVHFTATHPANSNIPSTTPSPDSELHRVFQKEMAVDLFRHQAPLSRLVT
TVRPYNPFNKKDKETIDY
Sequence length 438
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (11)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Age of onset of childhood onset asthma, Asthma N/A N/A GWAS
Carcinoma Basal cell carcinoma N/A N/A GWAS
Crohn Disease Crohn's disease N/A N/A GWAS
Dermatitis Atopic dermatitis N/A N/A GWAS