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SMIM21 small integral membrane protein 21 [ Homo sapiens (human) ]

Gene ID: 284274, updated on 27-Nov-2024

Summary

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Official Symbol
SMIM21provided by HGNC
Official Full Name
small integral membrane protein 21provided by HGNC
Primary source
HGNC:HGNC:27598
See related
Ensembl:ENSG00000206026 AllianceGenome:HGNC:27598
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
Also known as
C18orf62
Summary
Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Low expression observed in reference dataset See more
Orthologs
all
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Genomic context

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See SMIM21 in Genome Data Viewer
Location:
18q23
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (75409476..75427703, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (75638773..75656968, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (73121431..73139658, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:72916583-72917576 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:72920599-72921529 Neighboring gene Sharpr-MPRA regulatory region 3936 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9549 Neighboring gene prostaglandin reductase 3 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr18:72947291-72948490 Neighboring gene teashirt zinc finger homeobox 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13506 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:72985503-72986004 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:72986005-72986504 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:72990985-72991486 Neighboring gene Sharpr-MPRA regulatory region 9768 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr18:73061340-73062286 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr18:73062287-73063231 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:73072069-73072610 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:73072611-73073151 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:73090414-73090914 Neighboring gene uncharacterized LOC105372200 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:73120415-73121614 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr18:73141751-73142950 Neighboring gene uncharacterized LOC124900405 Neighboring gene uncharacterized LOC107985177 Neighboring gene uncharacterized LOC105372201

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. Mood disorders in individuals with distal 18q deletions. Daviss WB, et al. Am J Med Genet B Neuropsychiatr Genet, 2013 Dec. PMID 24006251
  2. Narrowing the critical region for congenital vertical talus in patients with interstitial 18q deletions. Mark PR, et al. Am J Med Genet A, 2013 May. PMID 23495172
  3. A genome-wide association study of rheumatoid arthritis without antibodies against citrullinated peptides. Bossini-Castillo L, et al. Ann Rheum Dis, 2015 Mar. PMID 24532677
  4. CFTR interactome mapping using the mammalian membrane two-hybrid high-throughput screening system. Lim SH, et al. Mol Syst Biol, 2022 Feb. PMID 35156780, Free PMC Article
  5. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

See all (8) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study of rheumatoid arthritis without antibodies against citrullinated peptides.
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)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC126049

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
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 21

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_001037331.3 → NP_001032408.1  small integral membrane protein 21 isoform 1

    See identical proteins and their annotated locations for NP_001032408.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC116003, AK093452
    Consensus CDS
    CCDS32845.1
    UniProtKB/Swiss-Prot
    Q3B7S5
    Related
    ENSP00000462106.1, ENST00000579022.5

  2. NM_001303482.2 → NP_001290411.1  small integral membrane protein 21 isoform 2

    See identical proteins and their annotated locations for NP_001290411.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate 3' terminal exon compared to variant 1. The encoded isoform (2) is shorter, and contains a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC116003, AK093452, AW118572, BC037871, BX117297
    Consensus CDS
    CCDS77200.1
    UniProtKB/TrEMBL
    J3KSN8
    Related
    ENSP00000462572.1, ENST00000584508.1

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_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    75409476..75427703 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    75638773..75656968 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q3B7S5.1 GenPept UniProtKB/Swiss-Prot:Q3B7S5

Gene LinkOut

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

Chemical Information
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