TMEM196 transmembrane protein 196 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TMEM196provided by HGNC
Official Full Name: transmembrane protein 196provided by HGNC
Primary source: HGNC:HGNC:22431
See related: Ensembl:ENSG00000173452 AllianceGenome:HGNC:22431
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 be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in brain (RPKM 2.3), adrenal (RPKM 0.4) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7p21.1

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (19719315..19773617, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (19853775..19908049, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (19758938..19813240, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TMEM196 inhibits lung cancer metastasis by regulating the Wnt/beta-catenin signaling pathway.
Title: TMEM196 inhibits lung cancer metastasis by regulating the Wnt/β-catenin signaling pathway.
The minor alleles of the four SNPs in TMEM196 may exert a protective effect against the development of NSAID-exacerbated respiratory disease(NERD) and may be useful genetic markers to predict the risk of NERD.
Title: Associations between TMEM196 polymorphisms and NSAID-exacerbated respiratory disease in asthma.
Low TMEM196 expression is associated with lung cancer.
Title: TMEM196 hypermethylation as a novel diagnostic and prognostic biomarker for lung cancer.
TMEM196 acts as a novel functional tumour suppressor inactivated by DNA methylation and is an independent prognostic factor of lung cancer
Title: TMEM196 acts as a novel functional tumour suppressor inactivated by DNA methylation and is a potential prognostic biomarker in lung cancer.

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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
A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-Wide Association Study of Intracranial Aneurysm Identifies a New Association on Chromosome 7. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G65715 (e-PCR)
- UniSTS:225427

RH98553 (e-PCR)
- UniSTS:90863

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in negative regulation of canonical Wnt signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cell growth	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: transmembrane protein 196

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.