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TMEM68 transmembrane protein 68 [ Homo sapiens (human) ]

Gene ID: 137695, updated on 22-Aug-2020

Summary

Official Symbol
TMEM68provided by HGNC
Official Full Name
transmembrane protein 68provided by HGNC
Primary source
HGNC:HGNC:26510
See related
Ensembl:ENSG00000167904
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
Expression
Ubiquitous expression in thyroid (RPKM 4.7), prostate (RPKM 3.9) and 25 other tissues See more
Orthologs

Genomic context

See TMEM68 in Genome Data Viewer
Location:
8q12.1
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (55738758..55773378, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (56651317..56685955, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375845 Neighboring gene uncharacterized LOC105375846 Neighboring gene RNA, 5S ribosomal pseudogene 265 Neighboring gene trimethylguanosine synthase 1 Neighboring gene CRISPRi-validated cis-regulatory element chr8.1663

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 identifies a novel susceptibility gene for serum TSH levels in Chinese populations.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ32370, MGC87778

Gene Ontology Provided by GOA

Function Evidence Code Pubs
transferase activity, transferring acyl groups IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

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_001286657.2NP_001273586.1  transmembrane protein 68 isoform 1

    See identical proteins and their annotated locations for NP_001273586.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC100817, AK056932, AL832935, DA121422, DB370750
    Consensus CDS
    CCDS75742.1
    UniProtKB/Swiss-Prot
    Q96MH6
    Related
    ENSP00000395204.2, ENST00000434581.7
    Conserved Domains (1) summary
    cd07987
    Location:103310
    LPLAT_MGAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: MGAT-like
  2. NM_001286660.2NP_001273589.1  transmembrane protein 68 isoform 3

    See identical proteins and their annotated locations for NP_001273589.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate 3' structure compared to variant 1. The encoded isoform (3) is shorter and has a unique C-terminus compared to isoform 1.
    Source sequence(s)
    AC100817, BC071636
    Consensus CDS
    CCDS75741.1
    UniProtKB/Swiss-Prot
    Q96MH6
    Related
    ENSP00000429210.1, ENST00000521229.5
  3. NM_001286661.2NP_001273590.1  transmembrane protein 68 isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation from a downstream AUG compared to variant 1. This variant also lacks an exon in the 3' coding region which results in a frameshift compared to variant 1. The encoded isoform (4) has a shorter N-terminus and a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC100817, CN272366, DB370750
    Consensus CDS
    CCDS75740.1
    UniProtKB/TrEMBL
    E5RJN2
    Related
    ENSP00000429026.1, ENST00000523073.5
    Conserved Domains (1) summary
    cd07987
    Location:1133
    LPLAT_MGAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: MGAT-like
  4. NM_001363176.1NP_001350105.1  transmembrane protein 68 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC100817, AK056932, AL832935, DA121422, DA549603, DB370750
    Consensus CDS
    CCDS75742.1
    Conserved Domains (1) summary
    cd07987
    Location:103310
    LPLAT_MGAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: MGAT-like
  5. NM_001363177.1NP_001350106.1  transmembrane protein 68 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC100817, AK056932, AL832935, DA121422, DB370750
    Related
    ENSP00000429667.1, ENST00000519780.5
    Conserved Domains (1) summary
    cd07987
    Location:1196
    LPLAT_MGAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: MGAT-like
  6. NM_152417.3NP_689630.1  transmembrane protein 68 isoform 2

    See identical proteins and their annotated locations for NP_689630.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) has a longer 5' UTR and lacks two in-frame exons in the coding region compared to variant 1. The encoded isoform (2) is shorter compared to isoform 1.
    Source sequence(s)
    AC100817, AK056932, DB370750
    Consensus CDS
    CCDS6161.1
    UniProtKB/Swiss-Prot
    Q96MH6
    Related
    ENSP00000335416.2, ENST00000334667.6
    Conserved Domains (1) summary
    cd07987
    Location:103229
    LPLAT_MGAT-like; Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: MGAT-like

RNA

  1. NR_156454.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC100817

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    55738758..55773378 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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