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SMIM8 small integral membrane protein 8 [ Homo sapiens (human) ]

Gene ID: 57150, updated on 5-Mar-2024

Summary

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Official Symbol
SMIM8provided by HGNC
Official Full Name
small integral membrane protein 8provided by HGNC
Primary source
HGNC:HGNC:21401
See related
Ensembl:ENSG00000111850 AllianceGenome:HGNC:21401
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
C6orf162; dJ102H19.2
Summary
Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in brain (RPKM 4.3), endometrium (RPKM 3.6) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
6q15
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (87322588..87342329)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (88531398..88551191)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (88032306..88052047)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901356 Neighboring gene gap junction protein beta 7 Neighboring gene heat shock protein family D (Hsp60) member 1 pseudogene 10 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17373 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:88038054-88038740 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:88038741-88039425 Neighboring gene tigger transposable element derived 6 pseudogene Neighboring gene chromosome 6 open reading frame 163 Neighboring gene long intergenic non-protein coding RNA 1590

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. Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. Deng X, et al. PLoS One, 2013. PMID 24324551, Free PMC Article
  2. The DNA sequence and analysis of human chromosome 6. Mungall AJ, et al. Nature, 2003 Oct 23. PMID 14574404
  3. 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
  4. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

See all (9) 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
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
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

Clone Names

  • DKFZp586E1923

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 8
Names
UPF0708 protein C6orf162

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_001042493.3 → NP_001035958.1  small integral membrane protein 8 isoform 1

    See identical proteins and their annotated locations for NP_001035958.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AI239454, AK311963, AL096817, BG534658
    Consensus CDS
    CCDS34496.1
    UniProtKB/Swiss-Prot
    B2R4V6, E1P505, Q5TEZ3, Q6NSD2, Q8IZ10, Q96KF7
    Related
    ENSP00000376603.1, ENST00000392863.6
    Conserved Domains (1) summary
    pfam14937
    Location:15 → 96
    DUF4500; Domain of unknown function (DUF4500)

  2. NM_001287445.2 → NP_001274374.1  small integral membrane protein 8 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate splice site in the 3' coding region, compared to variant 1. It encodes isoform 2, which is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AI239454, AL096817, BF212252, BG534658
    Consensus CDS
    CCDS75493.1
    UniProtKB/TrEMBL
    V9GYF9
    Related
    ENSP00000476709.1, ENST00000608525.5
    Conserved Domains (1) summary
    pfam14937
    Location:15 → 46
    DUF4500; Domain of unknown function (DUF4500)

  3. NM_020425.6 → NP_065158.3  small integral membrane protein 8 isoform 1

    See identical proteins and their annotated locations for NP_065158.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AI239454, AL096817, BC070260, BG534658
    Consensus CDS
    CCDS34496.1
    UniProtKB/Swiss-Prot
    B2R4V6, E1P505, Q5TEZ3, Q6NSD2, Q8IZ10, Q96KF7
    Related
    ENSP00000229570.5, ENST00000229570.9
    Conserved Domains (1) summary
    pfam14937
    Location:15 → 96
    DUF4500; Domain of unknown function (DUF4500)

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
    87322588..87342329
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    88531398..88551191
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96KF7.2 GenPept UniProtKB/Swiss-Prot:Q96KF7

Gene LinkOut

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