RBM18 RNA binding motif protein 18 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RBM18provided by HGNC
Official Full Name: RNA binding motif protein 18provided by HGNC
Primary source: HGNC:HGNC:28413
See related: Ensembl:ENSG00000119446 AllianceGenome:HGNC:28413
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: Predicted to enable RNA binding activity. Located in cytosol; intercellular bridge; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in prostate (RPKM 9.9), brain (RPKM 9.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q33.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (122237622..122264840, complement)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (134435123..134462358, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (124999901..125027119, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Htr1b (e-PCR), detects polymorphism
- UniSTS:143414

RH66719 (e-PCR)
- UniSTS:88124

WI-14875 (e-PCR)
- UniSTS:24646

RH66041 (e-PCR)
- UniSTS:46948

D9S2100 (e-PCR)
- UniSTS:47232

NIB43 (e-PCR)
- UniSTS:34783

Homology

Homologs of the RBM18 gene: The RBM18 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, and frog.
Orthologs from Annotation Pipeline: 456 organisms have orthologs with human gene RBM18
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in intercellular bridge	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: probable RNA-binding protein 18

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)

NM_033117.4 → NP_149108.1 probable RNA-binding protein 18

See identical proteins and their annotated locations for NP_149108.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the shortest transcript and encodes the functional protein.

Source sequence(s)

AL162424, AL389986, BC008942, BP870502, CA314508, DA308339

Consensus CDS

CCDS6839.1

UniProtKB/Swiss-Prot

B3KQ89, Q96H35

Related

ENSP00000409315.2, ENST00000417201.4

Conserved Domains (2) summary

TIGR01648
Location:26 → 189

hnRNP-R-Q; heterogeneous nuclear ribonucleoprotein R, Q family

cd12355
Location:26 → 105

RRM_RBM18; RNA recognition motif (RRM) found in eukaryotic RNA-binding protein 18 and similar proteins

RNA

NR_027125.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (2) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AK310008, AL162424, AL389986, BP870502, CA314508, DA308339
NR_027126.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AK310807, AL162424, AL389986, BP870502, CA314508, DA308339