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

Summary

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 located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
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

Location:: 6p24.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (11093834..11138733)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (10961754..11006653)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (11094067..11138966)

Chromosome 6 - NC_000006.12 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?

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

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 EBI GWAS CatalogPubMed

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

STS-N26559 (e-PCR)
- UniSTS:32267

PMC228468P4 (e-PCR)
- UniSTS:272162

RH15828 (e-PCR)
- UniSTS:27436

SHGC-33794 (e-PCR)
- UniSTS:81223

D6S1201E (e-PCR)
- UniSTS:32853

WIAF-1567 (e-PCR)
- UniSTS:76891

AL031214 (e-PCR)
- UniSTS:9084

RH12397 (e-PCR)
- UniSTS:55446

RH17888 (e-PCR)
- UniSTS:46826

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.