Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
10137 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
RNA binding motif protein 12 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
RBM12 |
SynonymsGene synonyms aliases
|
HRIHFB2091, SCZD19, SWAN |
ChromosomeChromosome number
|
20 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
20q11.22 |
SummarySummary 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 |
miRNAmiRNA information provided by mirtarbase database.
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
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 |
|
Sequence length |
932 |
Interactions |
View interactions |
Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Schizophrenia |
Schizophrenia, SCHIZOPHRENIA 19 |
rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 |
|
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Impaired cognition |
Impaired cognition |
|
|
Psychosis |
Psychosis, Brief Reactive, Psychotic Disorders |
|
28628109 |
Schizoaffective disorder |
Schizoaffective Disorder |
|
28628109 |
Schizophreniform disorders |
Schizophreniform Disorders |
|
28628109 |
|