SPMIP7 (sperm microtubule inner protein 7)

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Gene Gene information from NCBI Gene database.
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Entrez ID 100130988
Gene name Sperm microtubule inner protein 7
Gene symbol SPMIP7
Synonyms (NCBI Gene)
C7orf72SPATA48
Chromosome 7
Chromosome location 7p12.2
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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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.
Show/Hide Unknown Diseases (24)
Phenotype Name Clinical Significance Source Reference Evidence Score
ALZHEIMER DISEASE — GWAS catalog 21116278
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS — GWAS catalog 26974007
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA — GWAS catalog 29083406, 32296059, 36777996
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA — GWAS catalog 39024449, 40164604
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA — GWAS catalog 38616254
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (14)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Ankylosing spondylitis Ankylosing Spondylitis GWASCAT_DG 26974007
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Azoospermia Azoospermia BEFREE 29700843
★★★★★
★☆☆☆☆
Found in Text Mining only
Basal Cell Cancer Basal Cell Neoplasm GWASCAT_DG 31174203
★★★★★
★☆☆☆☆
Found in Text Mining only
Basal cell carcinoma Carcinoma GWASCAT_DG 31174203
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Basal Cell Neoplasm Basal Cell Neoplasm GWASCAT_DG 31174203
★★★★★
★☆☆☆☆
Found in Text Mining only
Cholangitis, Sclerosing Cholangitis GWASCAT_DG 26974007
★★★★★
★☆☆☆☆
Found in Text Mining only
Crohn Disease Crohn Disease GWASCAT_DG 26192919, 26974007
★★★★★
★☆☆☆☆
Found in Text Mining only
Infertility Male Male infertility Pubtator 36896575 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Inflammatory Bowel Diseases Inflammatory Bowel Disease GWASCAT_DG 26192919
★★★★★
★☆☆☆☆
Found in Text Mining only
Oral Ulcer Oral Ulcer GWASCAT_DG 30837455
★★★★★
★☆☆☆☆
Found in Text Mining only
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SBNO2 3 shared diseasesKeratinocyte carcinoma, Non-melanoma skin carcinoma, Sclerosing cholangitis 5 shared evidence sourcesGWAS catalog (Ankylosing spondylitis), GWAS catalog (Basal cell carcinoma), GWAS catalog (Keratinocyte carcinoma), GWAS catalog (Non-melanoma skin carcinoma), GWAS catalog (Sclerosing cholangitis) Related via 3 shared diseases including Keratinocyte carcinoma, Non-melanoma skin carcinoma — evidence mostly GWAS catalog. MICA 6 shared diseasesKeratinocyte carcinoma, Non-melanoma skin carcinoma, Sclerosing cholangitis, Skin disease, Stevens-johnson syndrome, Toxic epidermal necrolysis 8 shared evidence sourcesGWAS catalog (Ankylosing spondylitis), GWAS catalog (Basal cell carcinoma), GWAS catalog (Keratinocyte carcinoma), GWAS catalog (Non-melanoma skin carcinoma), GWAS catalog (Sclerosing cholangitis), GWAS catalog (Skin disease), GWAS catalog (Stevens-johnson syndrome), GWAS catalog (Toxic epidermal necrolysis) Related via 6 shared diseases including Keratinocyte carcinoma, Non-melanoma skin carcinoma — evidence mostly GWAS catalog. CPVL 4 shared diseasesKeratinocyte carcinoma, Non-melanoma skin carcinoma, Skin disease, Vitiligo 5 shared evidence sourcesGWAS catalog (Basal cell carcinoma), GWAS catalog (Keratinocyte carcinoma), GWAS catalog (Non-melanoma skin carcinoma), GWAS catalog (Skin disease), GWAS catalog (Vitiligo) Related via 4 shared diseases including Keratinocyte carcinoma, Non-melanoma skin carcinoma — evidence mostly GWAS catalog. IKZF1 7 shared diseasesB-cell acute lymphoblastic leukemia, Pharyngeal disorder, Rosacea, Sclerosing cholangitis, Skin disease, Stevens-johnson syndrome, Toxic epidermal necrolysis 8 shared evidence sourcesGWAS catalog (Ankylosing spondylitis), GWAS catalog (B-cell acute lymphoblastic leukemia), GWAS catalog (Pharyngeal disorder), GWAS catalog (Rosacea), GWAS catalog (Sclerosing cholangitis), GWAS catalog (Skin disease), GWAS catalog (Stevens-johnson syndrome), GWAS catalog (Toxic epidermal necrolysis) Related via 7 shared diseases including B-cell acute lymphoblastic leukemia, Pharyngeal disorder — evidence mostly GWAS catalog. TICAM1 3 shared diseasesKeratinocyte carcinoma, Non-melanoma skin carcinoma, Vitiligo 4 shared evidence sourcesGWAS catalog (Basal cell carcinoma), GWAS catalog (Keratinocyte carcinoma), GWAS catalog (Non-melanoma skin carcinoma), GWAS catalog (Vitiligo) Related via 3 shared diseases including Keratinocyte carcinoma, Non-melanoma skin carcinoma — evidence mostly GWAS catalog.
Hypothyroidism Linked via 3 of 5 related genesSBNO2, MICA, TICAM1 Diabetes mellitus type 2 Linked via 3 of 5 related genesSBNO2, MICA, IKZF1 Skin cancer Linked via 3 of 5 related genesMICA, CPVL, TICAM1 Skin neoplasms Linked via 3 of 5 related genesMICA, CPVL, TICAM1 Colorectal cancer Linked via 2 of 5 related genesSBNO2, CPVL