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(3)
GO ID Ontology Definition Evidence Reference
GO:0003674 Function Molecular_function ND
GO:0005575 Component Cellular_component ND
GO:0008150 Process Biological_process ND
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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (4)
Causal
Disease term Disease name dbSNP ID References
Basal cell neoplasm Basal Cell Neoplasm, Basal Cell Cancer rs587776578, rs587776579, rs2117956624, rs2118419579, rs2118365442, rs2118041703, rs2136689212, rs2118336503, rs1587692888, rs267606984, rs878853849, rs1554695110, rs1064793921, rs1588605348, rs1588568813 31174203
Carcinoma Basal cell carcinoma rs121912654, rs555607708, rs786202962, rs1564055259 31174203
Inflammatory bowel disease Inflammatory Bowel Diseases rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs1329427406, rs1264862631, rs1192830343, rs1373354533, rs1419560997, rs1591263883, rs1989014468 26192919
Psoriasis Psoriasis rs281875215, rs587777763, rs281875213, rs281875212 26974007
Show/Hide Unknown Diseases (11)
Unknown
Disease term Disease name Evidence References Source
Crohn disease Crohn Disease 26974007, 26192919 ClinVar
Vitiligo Vitiligo GWAS
Systemic lupus erythematosus Systemic lupus erythematosus GWAS
Eczema Eczema GWAS