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    RBM12 RNA binding motif protein 12 [ Homo sapiens (human) ]

    Gene ID: 10137, updated on 2-Nov-2024

    Summary

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    Official Symbol
    RBM12provided by HGNC
    Official Full Name
    RNA binding motif protein 12provided by HGNC
    Primary source
    HGNC:HGNC:9898
    See related
    Ensembl:ENSG00000244462 MIM:607179; AllianceGenome:HGNC:9898
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SWAN; SCZD19; HRIHFB2091
    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 transcript variants. All variants encode the same protein. [provided by RefSeq, Nov 2010]
    Expression
    Ubiquitous expression in lymph node (RPKM 14.4), ovary (RPKM 12.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RBM12 in Genome Data Viewer
    Location:
    20q11.22
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (35648925..35664900, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (37369900..37385875, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (34236847..34252822, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene copine 1 Neighboring gene RN7SK pseudogene 271 Neighboring gene RNA, U6 small nuclear 759, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17790 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:34251645-34252150 Neighboring gene Sharpr-MPRA regulatory region 3991 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:34252655-34253159 Neighboring gene NFS1 cysteine desulfurase Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:34286841-34287500 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:34287501-34288160 Neighboring gene reactive oxygen species modulator 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. cDNA cloning, chromosome assignment, and genomic structure of a human gene encoding a novel member of the RBM family. Stover C, et al. Cytogenet Cell Genet, 2001. PMID 11435693
    2. RBM12 regulates the progression of hepatocellular cancer via miR-497-5p/CPNE1 Axis. Gao C, et al. Environ Res, 2023 Dec 15. PMID 37793588
    3. The psychosis risk factor RBM12 encodes a novel repressor of GPCR/cAMP signal transduction. Semesta KM, et al. J Biol Chem, 2023 Sep. PMID 37543364, Free PMC Article
    4. Truncating mutations in RBM12 are associated with psychosis. Steinberg S, et al. Nat Genet, 2017 Aug. PMID 28628109
    5. Identification and characterization of RBM12 as a novel regulator of fetal hemoglobin expression. Wakabayashi A, et al. Blood Adv, 2022 Dec 13. PMID 35622975, Free PMC Article

    See all (69) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. RBM12 regulates the progression of hepatocellular cancer via miR-497-5p/CPNE1 Axis.
      Title: RBM12 regulates the progression of hepatocellular cancer via miR-497-5p/CPNE1 Axis.
    2. The psychosis risk factor RBM12 encodes a novel repressor of GPCR/cAMP signal transduction.
      Title: The psychosis risk factor RBM12 encodes a novel repressor of GPCR/cAMP signal transduction.
    3. Identification and characterization of RBM12 as a novel regulator of fetal hemoglobin expression.
      Title: Identification and characterization of RBM12 as a novel regulator of fetal hemoglobin expression.
    4. a nonsense mutation in RBM12 showed significant association with psychosis
      Title: Truncating mutations in RBM12 are associated with psychosis.
    5. RBM12 shares a promoter and 5'UTR exons with CPNE1. This genomic structure is conserved among multiple species.
      Title: Promoter-sharing by different genes in human genome--CPNE1 and RBM12 gene pair as an example.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Schizophrenia 19
    MedGen: C4539944 OMIM: 617629 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0765

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of RNA splicing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    part_of ribonucleoprotein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    RNA-binding protein 12
    Names
    SH3/WW domain anchor protein in the nucleus

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001198838.2 → NP_001185767.1  RNA-binding protein 12

      See identical proteins and their annotated locations for NP_001185767.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses a different splice site in the 5' UTR, compared to variant 1. All variants encode the same protein.
      Source sequence(s)
      AA825305, AL109827, DA319853
      Consensus CDS
      CCDS13261.1
      UniProtKB/Swiss-Prot
      B3KRU2, E1P5R6, O94865, Q8N3B1, Q9H196, Q9NTZ6
      UniProtKB/TrEMBL
      Q69YJ7
      Conserved Domains (6) summary
      cd12512
      Location:421 → 521
      RRM3_RBM12; RNA recognition motif 3 in RNA-binding protein 12 (RBM12) and similar proteins
      cd12745
      Location:1 → 92
      RRM1_RBM12; RNA recognition motif 1 in RNA-binding protein 12 (RBM12) and similar proteins
      cd12747
      Location:303 → 377
      RRM2_RBM12; RNA recognition motif 2 in RNA-binding protein 12 (RBM12) and similar proteins
      cd12749
      Location:545 → 632
      RRM4_RBM12; RNA recognition motif 4 in RNA-binding protein 12 (RBM12) and similar proteins
      cd12751
      Location:855 → 929
      RRM5_RBM12; RNA recognition motif 5 in RNA-binding protein 12 (RBM12) and similar proteins
      pfam05642
      Location:633 → 764
      Sporozoite_P67; Sporozoite P67 surface antigen

    2. NM_001198840.2 → NP_001185769.1  RNA-binding protein 12

      See identical proteins and their annotated locations for NP_001185769.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon in the 5' UTR, compared to variant 1. All variants encode the same protein.
      Source sequence(s)
      AA825305, AB018308, AL109827, DB060608
      Consensus CDS
      CCDS13261.1
      UniProtKB/Swiss-Prot
      B3KRU2, E1P5R6, O94865, Q8N3B1, Q9H196, Q9NTZ6
      UniProtKB/TrEMBL
      Q69YJ7
      Related
      ENSP00000352668.1, ENST00000359646.1
      Conserved Domains (6) summary
      cd12512
      Location:421 → 521
      RRM3_RBM12; RNA recognition motif 3 in RNA-binding protein 12 (RBM12) and similar proteins
      cd12745
      Location:1 → 92
      RRM1_RBM12; RNA recognition motif 1 in RNA-binding protein 12 (RBM12) and similar proteins
      cd12747
      Location:303 → 377
      RRM2_RBM12; RNA recognition motif 2 in RNA-binding protein 12 (RBM12) and similar proteins
      cd12749
      Location:545 → 632
      RRM4_RBM12; RNA recognition motif 4 in RNA-binding protein 12 (RBM12) and similar proteins
      cd12751
      Location:855 → 929
      RRM5_RBM12; RNA recognition motif 5 in RNA-binding protein 12 (RBM12) and similar proteins
      pfam05642
      Location:633 → 764
      Sporozoite_P67; Sporozoite P67 surface antigen

    3. NM_006047.6 → NP_006038.2  RNA-binding protein 12

      See identical proteins and their annotated locations for NP_006038.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is the predominant transcript. All variants encode the same protein.
      Source sequence(s)
      AA825305, AF345332, AL109827, DB060608
      Consensus CDS
      CCDS13261.1
      UniProtKB/Swiss-Prot
      B3KRU2, E1P5R6, O94865, Q8N3B1, Q9H196, Q9NTZ6
      UniProtKB/TrEMBL
      Q69YJ7
      Related
      ENSP00000363228.3, ENST00000374114.8
      Conserved Domains (6) summary
      cd12512
      Location:421 → 521
      RRM3_RBM12; RNA recognition motif 3 in RNA-binding protein 12 (RBM12) and similar proteins
      cd12745
      Location:1 → 92
      RRM1_RBM12; RNA recognition motif 1 in RNA-binding protein 12 (RBM12) and similar proteins
      cd12747
      Location:303 → 377
      RRM2_RBM12; RNA recognition motif 2 in RNA-binding protein 12 (RBM12) and similar proteins
      cd12749
      Location:545 → 632
      RRM4_RBM12; RNA recognition motif 4 in RNA-binding protein 12 (RBM12) and similar proteins
      cd12751
      Location:855 → 929
      RRM5_RBM12; RNA recognition motif 5 in RNA-binding protein 12 (RBM12) and similar proteins
      pfam05642
      Location:633 → 764
      Sporozoite_P67; Sporozoite P67 surface antigen

    4. NM_152838.4 → NP_690051.1  RNA-binding protein 12

      See identical proteins and their annotated locations for NP_690051.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses a different splice site in the 5' UTR, compared to variant 1. All variants encode the same protein.
      Source sequence(s)
      AA825305, AF393214, AL109827, DB060608
      Consensus CDS
      CCDS13261.1
      UniProtKB/Swiss-Prot
      B3KRU2, E1P5R6, O94865, Q8N3B1, Q9H196, Q9NTZ6
      UniProtKB/TrEMBL
      Q69YJ7
      Related
      ENSP00000363217.3, ENST00000374104.7
      Conserved Domains (6) summary
      cd12512
      Location:421 → 521
      RRM3_RBM12; RNA recognition motif 3 in RNA-binding protein 12 (RBM12) and similar proteins
      cd12745
      Location:1 → 92
      RRM1_RBM12; RNA recognition motif 1 in RNA-binding protein 12 (RBM12) and similar proteins
      cd12747
      Location:303 → 377
      RRM2_RBM12; RNA recognition motif 2 in RNA-binding protein 12 (RBM12) and similar proteins
      cd12749
      Location:545 → 632
      RRM4_RBM12; RNA recognition motif 4 in RNA-binding protein 12 (RBM12) and similar proteins
      cd12751
      Location:855 → 929
      RRM5_RBM12; RNA recognition motif 5 in RNA-binding protein 12 (RBM12) and similar proteins
      pfam05642
      Location:633 → 764
      Sporozoite_P67; Sporozoite P67 surface antigen

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      35648925..35664900 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      37369900..37385875 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NTZ6.1 GenPept UniProtKB/Swiss-Prot:Q9NTZ6

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    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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