Seroatlas · Human Serome Atlas

RBM12

RNA-binding protein 12

Also known as: HRIHFB2091, KIAA0765, RBM12_HUMAN, SWAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9NTZ6
Gene: RBM12
Ensembl: ENSG00000244462
Chromosome: 20
Canonical length: 932 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm

OverviewNCBI 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 transcript variants. All variants encode the same protein. [provided by RefSeq, Nov 2010]

Canonical amino-acid sequenceUniProt

932 residues, UniProt reviewed canonical sequence.

>Q9NTZ6|RBM12
     1  MAVVIRLQGL PIVAGTMDIR HFFSGLTIPD GGVHIVGGEL GEAFIVFATD EDARLGMMRT
    61  GGTIKGSKVT LLLSSKTEMQ NMIELSRRRF ETANLDIPPA NASRSGPPPS SGMSSRVNLP
   121  TTVSNFNNPS PSVVTATTSV HESNKNIQTF STASVGTAPP NMGASFGSPT FSSTVPSTAS
   181  PMNTVPPPPI PPIPAMPSLP PMPSIPPIPV PPPVPTLPPV PPVPPIPPVP SVPPMTPLPP
   241  MSGMPPLNPP PVAPLPAGMN GSGAPMNLNN NLNPMFLGPL NPVNPIQMNS QSSVKPLPIN
   301  PDDLYVSVHG MPFSAMENDV RDFFHGLRVD AVHLLKDHVG RNNGNGLVKF LSPQDTFEAL
   361  KRNRMLMIQR YVEVSPATER QWVAAGGHIT FKQNMGPSGQ THPPPQTLPR SKSPSGQKRS
   421  RSRSPHEAGF CVYLKGLPFE AENKHVIDFF KKLDIVEDSI YIAYGPNGKA TGEGFVEFRN
   481  EADYKAALCR HKQYMGNRFI QVHPITKKGM LEKIDMIRKR LQNFSYDQRE MILNPEGDVN
   541  SAKVCAHITN IPFSITKMDV LQFLEGIPVD ENAVHVLVDN NGQGLGQALV QFKNEDDARK
   601  SERLHRKKLN GREAFVHVVT LEDMREIEKN PPAQGKKGLK MPVPGNPAVP GMPNAGLPGV
   661  GLPSAGLPGA GLPSTGLPGS AITSAGLPGA GMPSAGIPSA GGEEHAFLTV GSKEANNGPP
   721  FNFPGNFGGS NAFGPPIPPP GLGGGAFGDA RPGMPSVGNS GLPGLGLDVP GFGGGPNNLS
   781  GPSGFGGGPQ NFGNGPGSLG GPPGFGSGPP GLGSAPGHLG GPPAFGPGPG PGPGPGPIHI
   841  GGPPGFASSS GKPGPTVIKV QNMPFTVSID EILDFFYGYQ VIPGSVCLKY NEKGMPTGEA
   901  MVAFESRDEA TAAVIDLNDR PIGSRKVKLV LG

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RBM12 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.53
Highest tissue expression: 47 nTPM

Expression across tissuesHPA

Tissue

thymus: 47 nTPM
tonsil: 42 nTPM
lymph node: 37 nTPM
urinary bladder: 34 nTPM
ovary: 33 nTPM
bone marrow: 28 nTPM

Single-cell type

megakaryocyte-erythroid progenitors: 0.4 nCPM
basal prostatic cells: 0.3 nCPM
epididymal basal cells: 0.3 nCPM
prostatic club cells: 0.3 nCPM
fallopian secretory cells: 0.2 nCPM
goblet cells: 0.2 nCPM

Immune cell

memory CD8 T-cell: 14 nTPM
MAIT T-cell: 14 nTPM
myeloid DC: 13 nTPM
memory B-cell: 12 nTPM
gdT-cell: 12 nTPM
intermediate monocyte: 12 nTPM

Brain region

cerebellum: 97 nTPM
white matter: 70 nTPM
hypothalamus: 69 nTPM
cerebral cortex: 68 nTPM
choroid plexus: 66 nTPM
thalamus: 61 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RBM12.

Disease | AllUniProt

Conditions RBM12 is implicated in, by any mechanism.

Schizophrenia 19 (SCZD19) MIM:617629

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 139 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Schizophrenia 19

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.82
gnomAD pLI: 0
gnomAD missense Z: 1.24
DepMap mean gene effect: -0.26
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

regulation of RNA splicing

Molecular functions

RNA binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

RNA recognition motif domain
Nucleotide-binding alpha-beta plait domain superfamily
RNA-binding domain superfamily
Epithelial Splicing Regulatory
RNA recognition motif
RBM12, RNA recognition motif 1
RBM12, RNA recognition motif 2
RBM12, RNA recognition motif 5
RBM12, RNA recognition motif 3
RBM12, RNA recognition motif 4

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of RBM12 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads RBM12 as an antibody target. Whether an autoantibody or antibody against RBM12 could matter depends on whether native RBM12 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RBM12 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label RBM12 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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