Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10137
Gene name Gene Name - the full gene name approved by the HGNC.
RNA binding motif protein 12
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RBM12
Synonyms (NCBI Gene) Gene synonyms aliases
HRIHFB2091, SCZD19, SWAN
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20q11.22
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein that contains several RNA-binding motifs, potential transmembrane domains, and proline-rich regions. This gene and the gene for copine I overlap at map location 20q11.21. Alternative splicing in the 5` UTR results in four trans
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT025312 hsa-miR-34a-5p Proteomics 21566225
MIRT025312 hsa-miR-34a-5p Proteomics 21566225
MIRT032119 hsa-let-7d-5p Sequencing 20371350
MIRT052047 hsa-let-7b-5p CLASH 23622248
MIRT047177 hsa-miR-182-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003676 Function Nucleic acid binding IEA
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003723 Function RNA binding IBA
GO:0003723 Function RNA binding IEA
GO:0005515 Function Protein binding IPI 25910212, 26871637, 32296183, 33961781
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607179 9898 ENSG00000244462
Protein
UniProt ID Q9NTZ6
Protein name RNA-binding protein 12 (RNA-binding motif protein 12) (SH3/WW domain anchor protein in the nucleus) (SWAN)
PDB 1WEL , 2CPY , 2DNN , 2EK1 , 2EK6
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00076 RRM_1 432 501 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF00076 RRM_1 547 614 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF00076 RRM_1 858 928 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
Sequence
MAVVIRLQGLPIVAGTMDIRHFFSGLTIPDGGVHIVGGELGEAFIVFATDEDARLGMMRT
GGTIKGSKVTLLLSSKTEMQNMIELSRRRFETANLDIPPANASRSGPPPSSGMSSRVNLP
TTVSNFNNPSPSVVTATTSVHESNKNIQTFSTASVGTAPPNMGASFGSPTFSSTVPSTAS
PMNTVPPPPIPPIPAMPSLPPMPSIPPIPVPPPVPTLPPVPPVPPIPPVPSVPPMTPLPP
MSGMPPLNPPPVAPLPAGMNGSGAPMNLNNNLNPMFLGPLNPVNPIQMNSQSSVKPLPIN
PDDLYVSVHGMPFSAMENDVRDFFHGLRVDAVHLLKDHVGRNNGNGLVKFLSPQDTFEAL
KRNRMLMIQRYVEVSPATERQWVAAGGHITFKQNMGPSGQTHPPPQTLPRSKSPSGQKRS
RSRSPHEAGFCVYLKGLPFEAENKHVIDFFKKLDIVEDSIYIAYGPNGKATGEGFVEFRN
EADYKAALCRHKQYMGNRFIQ
VHPITKKGMLEKIDMIRKRLQNFSYDQREMILNPEGDVN
SAKVCAHITNIPFSITKMDVLQFLEGIPVDENAVHVLVDNNGQGLGQALVQFKNEDDARK
SERLHRKKLNGREA
FVHVVTLEDMREIEKNPPAQGKKGLKMPVPGNPAVPGMPNAGLPGV
GLPSAGLPGAGLPSTGLPGSAITSAGLPGAGMPSAGIPSAGGEEHAFLTVGSKEANNGPP
FNFPGNFGGSNAFGPPIPPPGLGGGAFGDARPGMPSVGNSGLPGLGLDVPGFGGGPNNLS
GPSGFGGGPQNFGNGPGSLGGPPGFGSGPPGLGSAPGHLGGPPAFGPGPGPGPGPGPIHI
GGPPGFASSSGKPGPTVIKVQNMPFTVSIDEILDFFYGYQVIPGSVCLKYNEKGMPTGEA
MVAFESRDEATAAVIDLNDRPIGSRKVK
LVLG
Sequence length 932
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)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Schizophrenia schizophrenia 19 rs781720548, rs1262969313 N/A
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
Carcinoma Basal cell carcinoma N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Meibomitis Associate 17889501