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

Gene ID: 130733, updated on 5-Mar-2024

Summary

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Official Symbol
TMEM178Aprovided by HGNC
Official Full Name
transmembrane protein 178Aprovided by HGNC
Primary source
HGNC:HGNC:28517
See related
Ensembl:ENSG00000152154 AllianceGenome:HGNC:28517
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
Summary
Predicted to be involved in negative regulation of osteoclast differentiation and regulation of cytosolic calcium ion concentration. Predicted to be integral component of membrane. Predicted to be active in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in brain (RPKM 5.0), prostate (RPKM 2.7) and 11 other tissues See more
Orthologs
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Genomic context

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Location:
2p22.1
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (39665483..39735960)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (39673667..39744956)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (39892623..39945103)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene mitogen-activated protein kinase kinase kinase kinase 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15616 Neighboring gene RNA, U6 small nuclear 1341, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15617 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11386 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11387 Neighboring gene MAP4K3 divergent transcript Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:39696648-39697148 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11388 Neighboring gene Sharpr-MPRA regulatory region 10578 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:39742467-39742687 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:39742776-39743368 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:39743369-39743960 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:39743961-39744553 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15618 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:39948161-39948662 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:39948663-39949162 Neighboring gene uncharacterized LOC124905994 Neighboring gene NANOG hESC enhancer GRCh37_chr2:39999086-40000066 Neighboring gene THUMP domain containing 2 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:40016715-40017914 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:40065678-40066225 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15619 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:40128919-40130118 Neighboring gene uncharacterized LOC112268436

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. Tmem178 acts in a novel negative feedback loop targeting NFATc1 to regulate bone mass. Decker CE, et al. Proc Natl Acad Sci U S A, 2015 Dec 22. PMID 26644563, Free PMC Article
  2. Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. Otsuki T, et al. DNA Res, 2005. PMID 16303743
  3. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. Comuzzie AG, et al. PLoS One, 2012. PMID 23251661, Free PMC Article
  4. Sequential genome-wide CRISPR-Cas9 screens identify genes regulating cell-surface expression of tetraspanins. Yang J, et al. Cell Rep, 2023 Feb 28. PMID 36724073
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Clark HF, et al. Genome Res, 2003 Oct. PMID 12975309, Free PMC Article

See all (10) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Tmem178 localizes to the ER membrane and regulates RANKL-induced Ca(2+) fluxes, thus controlling NFATc1 induction
    Title: Tmem178 acts in a novel negative feedback loop targeting NFATc1 to regulate bone mass.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

  • MGC33926

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in negative regulation of osteoclast differentiation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of osteoclast differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of cytosolic calcium ion concentration IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of cytosolic calcium ion concentration ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
transmembrane protein 178A
Names
transmembrane protein 178

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_001167959.2 → NP_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:2 → 92
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

  2. NM_152390.3 → NP_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
    Q6UWI6, Q8N6N4, Q8NBL3
    Related
    ENSP00000281961.2, ENST00000281961.3
    Conserved Domains (1) summary
    cl21598
    Location:106 → 274
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    39665483..39735960
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024452702.2 → XP_024308470.1  transmembrane protein 178A isoform X4

  2. XM_005264144.1 → XP_005264201.1  transmembrane protein 178A isoform X1

    See identical proteins and their annotated locations for XP_005264201.1

  3. XM_005264145.1 → XP_005264202.1  transmembrane protein 178A isoform X3

    Conserved Domains (1) summary
    cl21598
    Location:28 → 190
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

  4. XM_017003369.2 → XP_016858858.1  transmembrane protein 178A isoform X2

  5. XM_047443422.1 → XP_047299378.1  transmembrane protein 178A isoform X5

  6. XM_017003371.2 → XP_016858860.1  transmembrane protein 178A isoform X5

    Conserved Domains (1) summary
    cl21598
    Location:2 → 92
    PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    39673667..39744956
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054340584.1 → XP_054196559.1  transmembrane protein 178A isoform X5

  2. XM_054340585.1 → XP_054196560.1  transmembrane protein 178A isoform X5

  3. XM_054340582.1 → XP_054196557.1  transmembrane protein 178A isoform X5

  4. XM_054340581.1 → XP_054196556.1  transmembrane protein 178A isoform X4

  5. XM_054340578.1 → XP_054196553.1  transmembrane protein 178A isoform X1

  6. XM_054340580.1 → XP_054196555.1  transmembrane protein 178A isoform X3

  7. XM_054340579.1 → XP_054196554.1  transmembrane protein 178A isoform X2

  8. XM_054340586.1 → XP_054196561.1  transmembrane protein 178A isoform X5

  9. XM_054340583.1 → XP_054196558.1  transmembrane protein 178A isoform X5

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8NBL3.1 GenPept UniProtKB/Swiss-Prot:Q8NBL3

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