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SMIM18 small integral membrane protein 18 [ Homo sapiens (human) ]

Gene ID: 100507341, updated on 8-Mar-2024

Summary

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Official Symbol
SMIM18provided by HGNC
Official Full Name
small integral membrane protein 18provided by HGNC
Primary source
HGNC:HGNC:42973
See related
Ensembl:ENSG00000253457 AllianceGenome:HGNC:42973
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 be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in brain (RPKM 1.9), adrenal (RPKM 0.3) and 1 other tissue See more
Orthologs
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Genomic context

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Location:
8p12
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (30638580..30646064)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (30916978..30925515)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (30496097..30503581)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112268025 Neighboring gene RNA binding protein, mRNA processing factor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:30284105-30284606 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:30284607-30285106 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:30295211-30295746 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:30303831-30304359 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:30304360-30304887 Neighboring gene Sharpr-MPRA regulatory region 3907 Neighboring gene NANOG hESC enhancer GRCh37_chr8:30310384-30310885 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:30318783-30319578 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:30333285-30333476 Neighboring gene uncharacterized LOC124901929 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:30396862-30397470 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:30396143-30396854 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:30397471-30398079 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:30398080-30398688 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:30398689-30399296 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:30399297-30399906 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:30400515-30401122 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:30401123-30401730 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27212 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:30406725-30407384 Neighboring gene Sharpr-MPRA regulatory region 2547 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19077 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:30416141-30416640 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:30415639-30416140 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:30422314-30422922 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19078 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19079 Neighboring gene general transcription factor IIE subunit 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27213 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:30514282-30514953 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:30515625-30516296 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19080 Neighboring gene RNA, U5A small nuclear 3, pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr8:30560335-30560881 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19082 Neighboring gene glutathione-disulfide reductase Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:30584261-30584948 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19083 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19084 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:30586711-30587235 Neighboring gene uncharacterized LOC105379356 Neighboring gene uncharacterized LOC105379355 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27214 Neighboring gene UBX domain protein 8

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
  • 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. Discovery of 342 putative new genes from the analysis of 5'-end-sequenced full-length-enriched cDNA human transcripts. Dalla E, et al. Genomics, 2005 Jun. PMID 15885500
  2. Common genetic variation and performance on standardized cognitive tests. Cirulli ET, et al. Eur J Hum Genet, 2010 Jul. PMID 20125193, Free PMC Article
  3. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548

GeneRIFs: Gene References Into Functions

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

EBI GWAS Catalog

Description
Common genetic variation and performance on standardized cognitive tests.
EBI GWAS Catalog

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

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
small integral membrane 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)

  1. NM_001206847.2 → NP_001193776.1  small integral membrane protein 18

    See identical proteins and their annotated locations for NP_001193776.1

    Status: VALIDATED

    Source sequence(s)
    AC102945, AC103959, BM710955, DR033682
    Consensus CDS
    CCDS56529.1
    UniProtKB/Swiss-Prot
    P0DKX4
    Related
    ENSP00000428858.1, ENST00000517349.2
    Conserved Domains (1) summary
    cd20255
    Location:4 → 85
    CASIMO1_SMIM22; small integral membrane protein 22 (SMIM22) of CASIMO1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    30638580..30646064
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024447050.2 → XP_024302818.1  small integral membrane protein 18 isoform X1

    UniProtKB/Swiss-Prot
    P0DKX4
    Conserved Domains (1) summary
    cd20255
    Location:4 → 85
    CASIMO1_SMIM22; small integral membrane protein 22 (SMIM22) of CASIMO1

  2. XM_017012943.2 → XP_016868432.1  small integral membrane protein 18 isoform X1

    UniProtKB/Swiss-Prot
    P0DKX4
    Conserved Domains (1) summary
    cd20255
    Location:4 → 85
    CASIMO1_SMIM22; small integral membrane protein 22 (SMIM22) of CASIMO1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    30916978..30925515
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054359526.1 → XP_054215501.1  small integral membrane protein 18 isoform X1

    UniProtKB/Swiss-Prot
    P0DKX4

  2. XM_054359527.1 → XP_054215502.1  small integral membrane protein 18 isoform X1

    UniProtKB/Swiss-Prot
    P0DKX4
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P0DKX4.1 GenPept UniProtKB/Swiss-Prot:P0DKX4

Gene LinkOut

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