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

Gene ID: 57150, updated on 24-Nov-2020

Summary

Official Symbol
SMIM8provided by HGNC
Official Full Name
small integral membrane protein 8provided by HGNC
Primary source
HGNC:HGNC:21401
See related
Ensembl:ENSG00000111850
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
Expression
Ubiquitous expression in brain (RPKM 4.3), endometrium (RPKM 3.6) and 25 other tissues See more
Orthologs

Genomic context

See SMIM8 in Genome Data Viewer
Location:
6q15
Exon count:
4
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (87322588..87342329)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (88032306..88052043)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene RNA polymerase I subunit F pseudogene Neighboring gene zinc finger protein 292 Neighboring gene gap junction protein beta 7 Neighboring gene heat shock protein family D (Hsp60) member 1 pseudogene 10 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

Expression

  • 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

Phenotypes

Associated conditions

Description Tests
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp586E1923

Gene Ontology Provided by GOA

Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
small integral membrane protein 8
Names
UPF0708 protein C6orf162

NCBI Reference Sequences (RefSeq)

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_001042493.3NP_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
    Q96KF7
    Related
    ENSP00000376603.1, ENST00000392863.6
    Conserved Domains (1) summary
    pfam14937
    Location:1596
    DUF4500; Domain of unknown function (DUF4500)
  2. NM_001287445.2NP_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:1546
    DUF4500; Domain of unknown function (DUF4500)
  3. NM_020425.6NP_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
    Q96KF7
    Related
    ENSP00000229570.5, ENST00000229570.9
    Conserved Domains (1) summary
    pfam14937
    Location:1596
    DUF4500; Domain of unknown function (DUF4500)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

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