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TMEM178A transmembrane protein 178A [ Homo sapiens (human) ]

Gene ID: 130733, updated on 1-Jun-2020

Summary

Official Symbol
TMEM178Aprovided by HGNC
Official Full Name
transmembrane protein 178Aprovided by HGNC
Primary source
HGNC:HGNC:28517
See related
Ensembl:ENSG00000152154
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
TMEM178
Expression
Biased expression in brain (RPKM 5.0), prostate (RPKM 2.7) and 11 other tissues See more
Orthologs

Genomic context

See TMEM178A in Genome Data Viewer
Location:
2p22.1
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (39646748..39736429)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (39892638..39945103)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene mitogen-activated protein kinase kinase kinase kinase 3 Neighboring gene RNA, U6 small nuclear 373, pseudogene Neighboring gene MAP4K3 divergent transcript Neighboring gene THUMP domain containing 2 Neighboring gene uncharacterized LOC112268436 Neighboring gene zinc finger protein 19 pseudogene Neighboring gene SLC8A1 antisense RNA 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

Phenotypes

NHGRI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

General gene information

Markers

Homology

Clone Names

  • MGC33926

Gene Ontology Provided by GOA

Process Evidence Code Pubs
negative regulation of osteoclast differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of osteoclast differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of cytosolic calcium ion concentration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of cytosolic calcium ion concentration ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
cell IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
transmembrane protein 178A
Names
transmembrane protein 178

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_001167959.1NP_001161431.1  transmembrane protein 178A isoform 2

    See identical proteins and their annotated locations for NP_001161431.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC007246, BC029530, BI757636
    UniProtKB/Swiss-Prot
    Q8NBL3
    Conserved Domains (1) summary
    cl21598
    Location:292
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
  2. NM_152390.3NP_689603.2  transmembrane protein 178A isoform 1 precursor

    See identical proteins and their annotated locations for NP_689603.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC007246, BC029530, DN993805
    Consensus CDS
    CCDS1804.1
    UniProtKB/Swiss-Prot
    Q8NBL3
    Related
    ENSP00000281961.2, ENST00000281961.3
    Conserved Domains (1) summary
    cl21598
    Location:106274
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    39646748..39736429
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024452703.1XP_024308471.1  transmembrane protein 178A isoform X5

    Conserved Domains (1) summary
    cl21598
    Location:292
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
  2. XM_024452704.1XP_024308472.1  transmembrane protein 178A isoform X5

    Conserved Domains (1) summary
    cl21598
    Location:292
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
  3. XM_017003370.2XP_016858859.1  transmembrane protein 178A isoform X5

    Conserved Domains (1) summary
    cl21598
    Location:292
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
  4. XM_024452705.1XP_024308473.1  transmembrane protein 178A isoform X5

    Conserved Domains (1) summary
    cl21598
    Location:292
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
  5. XM_024452702.1XP_024308470.1  transmembrane protein 178A isoform X4

  6. XM_005264144.1XP_005264201.1  transmembrane protein 178A isoform X1

    See identical proteins and their annotated locations for XP_005264201.1

  7. XM_005264145.1XP_005264202.1  transmembrane protein 178A isoform X3

    Conserved Domains (1) summary
    cl21598
    Location:28190
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
  8. XM_017003369.1XP_016858858.1  transmembrane protein 178A isoform X2

  9. XM_017003371.1XP_016858860.1  transmembrane protein 178A isoform X5

    Conserved Domains (1) summary
    cl21598
    Location:292
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family
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