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TMEM88 transmembrane protein 88 [ Homo sapiens (human) ]

Gene ID: 92162, updated on 13-May-2022

Summary

Official Symbol
TMEM88provided by HGNC
Official Full Name
transmembrane protein 88provided by HGNC
Primary source
HGNC:HGNC:32371
See related
Ensembl:ENSG00000167874 MIM:617813; AllianceGenome:HGNC:32371
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
Summary
Predicted to enable PDZ domain binding activity. Involved in negative regulation of canonical Wnt signaling pathway; protein localization to plasma membrane; and protein stabilization. Located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in fat (RPKM 7.7), placenta (RPKM 7.1) and 23 other tissues See more
Orthologs
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Genomic context

See TMEM88 in Genome Data Viewer
Location:
17p13.1
Exon count:
2
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (7855066..7856099)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (7760392..7761425)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (7758384..7759417)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene translation initiation factor IF-2-like Neighboring gene lysine demethylase 6B Neighboring gene uncharacterized LOC107987244 Neighboring gene Sharpr-MPRA regulatory region 3930 Neighboring gene Sharpr-MPRA regulatory region 4002 Neighboring gene N-alpha-acetyltransferase 38, NatC auxiliary subunit Neighboring gene cytochrome b5 domain containing 1

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20025, MGC71744

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables PDZ domain binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables PDZ domain binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
PubMed 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

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_001319941.1NP_001306870.1  transmembrane protein 88 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 3' region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AC104581
    Consensus CDS
    CCDS82058.1
    UniProtKB/TrEMBL
    I3L2J3
    Related
    ENSP00000459725.1, ENST00000574668.1
  2. NM_203411.2NP_981956.1  transmembrane protein 88 isoform 1

    See identical proteins and their annotated locations for NP_981956.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    BC057812
    Consensus CDS
    CCDS11121.1
    UniProtKB/Swiss-Prot
    Q6PEY1
    Related
    ENSP00000301599.6, ENST00000301599.7

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    7855066..7856099
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005256856.4XP_005256913.1  transmembrane protein 88 isoform X1

    See identical proteins and their annotated locations for XP_005256913.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    7760392..7761425
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)