Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
114803
Gene name Gene Name - the full gene name approved by the HGNC.
Myb like, SWIRM and MPN domains 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MYSM1
Synonyms (NCBI Gene) Gene synonyms aliases
2A-DUB, 2ADUB, BMFS4
Disease Acronyms (UniProt) Disease acronyms from UniProt database
BMFS4
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p32.1
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1557507208 T>C Pathogenic Coding sequence variant, missense variant, non coding transcript variant
rs1557518298 C>A Pathogenic Stop gained, coding sequence variant, non coding transcript variant
rs1569692271 T>C Likely-pathogenic Intron variant, splice acceptor variant, downstream transcript variant, genic downstream transcript variant
rs1569770360 G>C Pathogenic Non coding transcript variant, coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT045259 hsa-miR-186-5p CLASH 23622248
MIRT041950 hsa-miR-484 CLASH 23622248
MIRT609553 hsa-miR-8485 HITS-CLIP 23313552
MIRT609553 hsa-miR-8485 HITS-CLIP 23313552
MIRT609553 hsa-miR-8485 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:0003677 Function DNA binding IEA
GO:0003713 Function Transcription coactivator activity IBA 21873635
GO:0003713 Function Transcription coactivator activity IDA 17707232
GO:0004843 Function Thiol-dependent ubiquitin-specific protease activity IBA 21873635
GO:0004843 Function Thiol-dependent ubiquitin-specific protease activity IDA 17707232
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
612176 29401 ENSG00000162601
Protein
UniProt ID Q5VVJ2
Protein name Deubiquitinase MYSM1 (2A-DUB) (EC 3.4.19.-) (Myb-like, SWIRM and MPN domain-containing protein 1)
Protein function Metalloprotease with deubiquitinase activity that plays important regulator roles in hematopoietic stem cell function, blood cell production and immune response (PubMed:24062447, PubMed:26220525, PubMed:28115216). Participates in the normal prog
PDB 2CU7 , 2DCE
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00249 Myb_DNA-binding 118 163 Myb-like DNA-binding domain Domain
PF04433 SWIRM 375 461 SWIRM domain Domain
PF01398 JAB 572 682 JAB1/Mov34/MPN/PAD-1 ubiquitin protease Family
Sequence
MAAEEADVDIEGDVVAAAGAQPGSGENTASVLQKDHYLDSSWRTENGLIPWTLDNTISEE
NRAVIEKMLLEEEYYLSKKSQPEKVWLDQKEDDKKYMKSLQKTAKIMVHSPTKPASYSVK
WTIEEKELFEQGLAKFGRRWTKISKLIGSRTVLQVKSYARQYF
KNKVKCGLDKETPNQKT
GHNLQVKNEDKGTKAWTPSCLRGRADPNLNAVKIEKLSDDEEVDITDEVDELSSQTPQKN
SSSDLLLDFPNSKMHETNQGEFITSDSQEALFSKSSRGCLQNEKQDETLSSSEITLWTEK
QSNGDKKSIELNDQKFNELIKNCNKHDGRGIIVDARQLPSPEPCEIQKNLNDNEMLFHSC
QMVEESHEEEELKPPEQEIEIDRNIIQEEEKQAIPEFFEGRQAKTPERYLKIRNYILDQW
EICKPKYLNKTSVRPGLKNCGDVNCIGRIHTYLELIGAINF
GCEQAVYNRPQTVDKVRIR
DRKDAVEAYQLAQRLQSMRTRRRRVRDPWGNWCDAKDLEGQTFEHLSAEELAKRREEEKG
RPVKSLKVPRPTKSSFDPFQLIPCNFFSEEKQEPFQVKVASEALLIMDLHAHVSMAEVIG
LLGGRYSEVDKVVEVCAAEPCNSLSTGLQCEMDPVSQTQASETLAVRGFSVIGWYHSHPA
FDPNPSLRDIDTQAKYQSYFSR
GGAKFIGMIVSPYNRNNPLPYSQITCLVISEEISPDGS
YRLPYKFEVQQMLEEPQWGLVFEKTRWIIEKYRLSHSSVPMDKIFRRDSDLTCLQKLLEC
MRKTLSKVTNCFMAEEFLTEIENLFLSNYKSNQENGVTEENCTKELLM
Sequence length 828
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Metalloprotease DUBs
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)
Bone marrow diseases BONE MARROW FAILURE SYNDROME 4 rs1557518298, rs1557507208, rs1569770360, rs1644867065 24288411, 26220525, 28115216
Pancytopenia Pancytopenia rs869312883, rs770551610, rs1131690788, rs530073586, rs374333820 26474655
Unknown
Disease term Disease name Evidence References Source
Bone Marrow Diseases bone marrow failure syndrome 4 GenCC
Diabetic Retinopathy Diabetic Retinopathy GWAS
Restless Legs Syndrome Restless Legs Syndrome GWAS
Associations from Text Mining
Disease Name Relationship Type References
Agammaglobulinemia Associate 38065233
Colorectal Neoplasms Associate 28498834
Diabetes Mellitus Type 2 Associate 27863428
Immune System Diseases Associate 38065233
Leukemia B Cell Associate 38065233
Lymphopenia Associate 38065233
Neoplasms Associate 28498834
Scoliosis Associate 34440387
Severe Combined Immunodeficiency Associate 38065233
Spinal Diseases Associate 34440387