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SMIM13 small integral membrane protein 13 [ Homo sapiens (human) ]

Gene ID: 221710, updated on 5-Mar-2024

Summary

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Official Symbol
SMIM13provided by HGNC
Official Full Name
small integral membrane protein 13provided by HGNC
Primary source
HGNC:HGNC:27356
See related
Ensembl:ENSG00000224531 AllianceGenome:HGNC:27356
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
C6orf228
Summary
Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in brain (RPKM 20.9), placenta (RPKM 7.3) and 23 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
6p24.2
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (11093834..11138733)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (10961754..11006653)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (11094067..11138966)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ELOVL fatty acid elongase 2 Neighboring gene siah E3 ubiquitin protein ligase family member 3 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:11045068-11045568 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:11045569-11046069 Neighboring gene ELOVL2 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:11093674-11094214 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:11094215-11094756 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16910 Neighboring gene endogenous retrovirus group FRD member 1, envelope Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:11126939-11127440 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23978 Neighboring gene Sharpr-MPRA regulatory region 2452 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:11185257-11186456 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:11189930-11190701 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:11190702-11191472 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:11195391-11196257 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:11196258-11197123 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23979 Neighboring gene uncharacterized LOC124901256 Neighboring gene neural precursor cell expressed, developmentally down-regulated 9 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16911 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16912 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23980 Neighboring gene Sharpr-MPRA regulatory region 1219 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23982 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23983 Neighboring gene uncharacterized LOC105374925 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:11298822-11299579 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23984

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. A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus. Cai DC, et al. Genes Brain Behav, 2014 Sep. PMID 25130324
  2. TNIP2 is a Hub Protein in the NF-κB Network with Both Protein and RNA Mediated Interactions. Banks CA, et al. Mol Cell Proteomics, 2016 Nov. PMID 27609421, Free PMC Article
  3. RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination. Choudhury NR, et al. BMC Biol, 2017 Nov 8. PMID 29117863, Free PMC Article
  4. 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

EBI GWAS Catalog

Description
A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.
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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

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 13
Names
UPF0766 protein C6orf228

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_001135575.2 → NP_001129047.1  small integral membrane protein 13

    See identical proteins and their annotated locations for NP_001129047.1

    Status: VALIDATED

    Source sequence(s)
    AA724884, AL136139, BC032356
    Consensus CDS
    CCDS56396.1
    UniProtKB/Swiss-Prot
    G3V581, P0DJ93
    Related
    ENSP00000451866.1, ENST00000416247.4
    Conserved Domains (1) summary
    pfam15938
    Location:1 → 46
    DUF4750; Domain of unknown function (DUF4750)

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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    11093834..11138733
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    10961754..11006653
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P0DJ93.1 GenPept UniProtKB/Swiss-Prot:P0DJ93

Gene LinkOut

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

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