Gene Gene information from NCBI Gene database.
Entrez ID 10137
Gene name RNA binding motif protein 12
Gene symbol RBM12
Synonyms (NCBI Gene)
HRIHFB2091SCZD19SWAN
Chromosome 20
Chromosome location 20q11.22
Summary 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.
395
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607179 9898 ENSG00000244462
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Schizophrenia 19 Pathogenic rs781720548, rs1262969313 RCV000499008
RCV000499007
★★★★☆
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.
Phenotype Name Clinical Significance Source Evidence Score
Neurodevelopmental delay Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PSYCHOTIC DISORDERS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RBM12-related disorder Benign; Uncertain significance; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder BEFREE 15809660, 31290357
★☆☆☆☆
Found in Text Mining only
Developmental Coordination Disorder Developmental dyspraxia BEFREE 16442650
★☆☆☆☆
Found in Text Mining only
Impaired cognition Impaired Cognition HPO_DG
★☆☆☆☆
Found in Text Mining only
Mental disorders Mental Disorders BEFREE 28628109
★☆☆☆☆
Found in Text Mining only
Nonorganic psychosis Nonorganic Psychosis BEFREE 28628109
★☆☆☆☆
Found in Text Mining only
Psychosis, Brief Reactive Psychosis CTD_human_DG 28628109
★☆☆☆☆
Found in Text Mining only
Psychotic Disorders Psychosis BEFREE 28628109
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Psychotic Disorders Psychosis CTD_human_DG 28628109
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Schizoaffective Disorder Schizoaffective Disorder CTD_human_DG 28628109
★☆☆☆☆
Found in Text Mining only
Schizophrenia Schizophrenia BEFREE 28628109
★☆☆☆☆
Found in Text Mining only