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SMIM2 small integral membrane protein 2 [ Homo sapiens (human) ]

Gene ID: 79024, updated on 2-Nov-2024

Summary

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Official Symbol
SMIM2provided by HGNC
Official Full Name
small integral membrane protein 2provided by HGNC
Primary source
HGNC:HGNC:28776
See related
Ensembl:ENSG00000226519 AllianceGenome:HGNC:28776
Gene type
ncRNA
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C13orf44
Summary
Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in testis (RPKM 2.8), kidney (RPKM 0.5) and 4 other tissues See more
Orthologs
all
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Genomic context

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See SMIM2 in Genome Data Viewer
Location:
13q14.11
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (44143150..44161257, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (43362916..43381023, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (44717286..44735393, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370182 Neighboring gene non-coding RNA in the aldehyde dehydrogenase 1A pathway Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:44653586-44654467 Neighboring gene long intergenic non-protein coding RNA 390 Neighboring gene SMIM2 antisense RNA 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:44715242-44716201 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5304 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:44717815-44718009 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:44733325-44734524 Neighboring gene SMIM2 intronic transcript 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:44761946-44763145 Neighboring gene microRNA 8079 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr13:44805723-44806922 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:44824216-44824392 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr13:44837776-44838975 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7672 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7673 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr13:44880060-44881259 Neighboring gene uncharacterized LOC107984552 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:44886104-44887303

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. A proteome-scale map of the human interactome network. Rolland T, et al. Cell, 2014 Nov 20. PMID 25416956, Free PMC Article
  2. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

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

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

  • MGC5590

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
  

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.

RNA

  1. NR_197392.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL589745
    Related
    ENST00000400419.3

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_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    44143150..44161257 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    43362916..43381023 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_024058.3: Suppressed sequence

    Description
    NM_024058.3: This RefSeq was removed because it is now thought that this gene does not encode a protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BVW6.1 GenPept UniProtKB/Swiss-Prot:Q9BVW6

Gene LinkOut

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

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