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

Gene ID: 10137, updated on 3-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
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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 (70) 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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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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