Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
219285
Gene name Gene Name - the full gene name approved by the HGNC.
Sterile alpha motif domain containing 9 like
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SAMD9L
Synonyms (NCBI Gene) Gene synonyms aliases
ATXPC, C7DELq, C7orf6, DEL7q, DRIF2, M7MLS1, MLSM7, SCA49, UEF1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
ATXPC, M7MLS1, SCA49
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q21.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a cytoplasmic protein that acts as a tumor suppressor but also plays a key role in cell proliferation and the innate immune response to viral infection. The encoded protein contains an N-terminal sterile alpha motif domain. Naturally occ
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs878855336 G>A,T Pathogenic-likely-pathogenic Coding sequence variant, missense variant, synonymous variant
rs878855337 C>G Pathogenic-likely-pathogenic Coding sequence variant, missense variant
rs1554341158 G>A,T Pathogenic, uncertain-significance Coding sequence variant, missense variant
rs1554341277 A>G Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT021276 hsa-miR-146a-5p Microarray 18057241
MIRT647752 hsa-miR-6731-5p HITS-CLIP 23824327
MIRT647751 hsa-miR-8085 HITS-CLIP 23824327
MIRT647750 hsa-miR-3175 HITS-CLIP 23824327
MIRT647749 hsa-miR-1343-5p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 24029230
GO:0005737 Component Cytoplasm IBA 21873635
GO:0005769 Component Early endosome IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611170 1349 ENSG00000177409
Protein
UniProt ID Q8IVG5
Protein name Sterile alpha motif domain-containing protein 9-like (SAM domain-containing protein 9-like)
Protein function May be involved in endosome fusion. Mediates down-regulation of growth factor signaling via internalization of growth factor receptors.
Family and domains
Tissue specificity TISSUE SPECIFICITY: Widely expressed in adult and fetal tissues. Expressed in the cerebellum (PubMed:35310830). Variable expression in tumors. Down-regulated in breast cancer. {ECO:0000269|PubMed:17407603, ECO:0000269|PubMed:35310830}.
Sequence
MSKQVSLPEMIKDWTKEHVKKWVNEDLKINEQYGQILLSEEVTGLVLQELTEKDLVEMGL
PWGPALLIKRSYNKLNSKSPESDNHDPGQLDNSKPSKTEHQKNPKHTKKEEENSMSSNID
YDPREIRDIKQEESILMKENVLDEVANAKHKKKGKLKPEQLTCMPYPFDQFHDSHRYIEH
YTLQPETGALNLIDPIHEFKALTNTETATEVDIKMKFSNEVFRFASACMNSRTNGTIHFG
VKDKPHGEIVGVKITSKAAFIDHFNVMIKKYFEESEINEAKKCIREPRFVEVLLQNNTPS
DRFVIEVDTIPKHSICNDKYFYIQMQICKDKIWKQNQNLSLFVREGASSRDILANSKQRD
VDFKAFLQNLKSLVASRKEAEEEYGMKAMKKESEGLKLVKLLIGNRDSLDNSYYDWYILV
TNKCHPNQIKHLDFLKEIKWFAVLEFDPESMINGVVKAYKESRVANLHFPNQYEDKTTNM
WEKISTLNLYQQPSWIFCNGRSDLKSETYKPLEPHLWQRERASEVRKLILFLTDENIMTR
GKFLVVFLLLSSVESPGDPLIETFWAFYQALKGMENMLCISVNSHIYQRWKDLLQTRMKM
EDELTNHSISTLNIELVNSTILKLKSVTRSSRRFLPARGSSSVILEKKKEDVLTALEILC
ENECTETDIEKDKSKFLEFKKSKEEHFYRGGKVSWWNFYFSSENYSSDFVKRDSYEKLKD
LIHCWAESPKPIFAKIINLYHHPGCGGTTLAMHVLWDLKKNFRCAVLKNKTTDFAEIAEQ
VINLVTYRAKSHQDYIPVLLLVDDFEEQENVYFLQNAIHSVLAEKDLRYEKTLVIILNCM
RSRNPDESAKLADSIALNYQLSSKEQRAFGAKLKEIEKQHKNCENFYSFMIMKSNFDETY
IENVVRNILKGQDVDSKEAQLISFLALLSSYVTDSTISVSQCEIFLGIIYTSTPWEPESL
EDKMGTYSTLLIKTEVAEYGRYTGVRIIHPLIALYCLKELERSYHLDKCQIALNILEENL
FYDSGIGRDKFQHDVQTLLLTRQRKVYGDETDTLFSPLMEALQNKDIEKVLSAGSRRFPQ
NAFICQALARHFYIKEKDFNTALDWARQAKMKAPKNSYISDTLGQVYKSEIKWWLDGNKN
CRSITVNDLTHLLEAAEKASRAFKESQRQTDSKNYETENWSPQKSQRRYDMYNTACFLGE
IEVGLYTIQILQLTPFFHKENELSKKHMVQFLSGKWTIPPDPRNECYLALSKFTSHLKNL
QSDLKRCFDFFIDYMVLLKMRYTQKEIAEIMLSKKVSRCFRKYTELFCHLDPCLLQSKES
QLLQEENCRKKLEALRADRFAGLLEYLNPNYKDATTMESIVNEYAFLLQQNSKKPMTNEK
QNSILANIILSCLKPNSKLIQPLTTLKKQLREVLQFVGLSHQYPGPYFLACLLFWPENQE
LDQDSKLIEKYVSSLNRSFRGQYKRMCRSKQASTLFYLGKRKGLNSIVHKAKIEQYFDKA
QNTNSLWHSGDVWKKNEVKDLLRRLTGQAEGKLISVEYGTEEKIKIPVISVYSGPLRSGR
NIERVSFYLGFSIEGPLAYDIEVI
Sequence length 1584
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anemia Anemia rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
Ataxia-pancytopenia syndrome Ataxia-pancytopenia syndrome rs878855336, rs878855337, rs1554341158, rs1554341277
Microcephaly Microcephaly rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019
View all (280 more)
Myelomonocytic leukemia Acute myelomonocytic leukemia rs137854555, rs267606602, rs267606604, rs137854562, rs267606607, rs121918546, rs112445441, rs121913529, rs121913530, rs121918465, rs267606708, rs267606706, rs121434596, rs121913237, rs397514641
View all (68 more)
Unknown
Disease term Disease name Evidence References Source
Spinocerebellar Ataxia spinocerebellar ataxia 49 GenCC
Associations from Text Mining
Disease Name Relationship Type References
Aicardi Goutieres syndrome Associate 34417303
Anemia Associate 34417303
Anemia Aplastic Associate 36012751, 36499545, 38597819
Autoimmune enteropathy Associate 31306780
Bone Marrow Failure Disorders Associate 31306780, 38597819
Bone Marrow Neoplasms Associate 38597819
Carcinoma Hepatocellular Associate 25076857
Chromosome 7 monosomy Associate 29146883, 29217778, 30046003, 32770553, 37584291
Condylomata Acuminata Associate 35131475
Congenital Bone Marrow Failure Syndromes Associate 29146883