TMEM163 transmembrane protein 163 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TMEM163provided by HGNC
Official Full Name: transmembrane protein 163provided by HGNC
Primary source: HGNC:HGNC:25380
See related: Ensembl:ENSG00000152128 MIM:618978; AllianceGenome:HGNC:25380
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: DC29; SV31; HLD25; SLC30A11
Summary: Predicted to enable zinc ion binding activity. Involved in myelination and zinc export across plasma membrane. Predicted to be located in early endosome membrane. Predicted to be active in plasma membrane and synaptic vesicle membrane. Implicated in hypomyelinating leukodystrophy 25. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in lung (RPKM 2.2), brain (RPKM 1.9) and 15 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q21.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (134455759..134719000, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (134895326..135159268, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (135213330..135476570, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy.
Title: Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy.
Functional Study of TMEM163 Gene Variants Associated with Hypomyelination Leukodystrophy.
Title: Functional Study of TMEM163 Gene Variants Associated with Hypomyelination Leukodystrophy.
Mutation analysis of TMEM family members for early-onset Parkinson's disease in Chinese population.
Title: Mutation analysis of TMEM family members for early-onset Parkinson's disease in Chinese population.
A zinc transporter, transmembrane protein 163, is critical for the biogenesis of platelet dense granules.
Title: A zinc transporter, transmembrane protein 163, is critical for the biogenesis of platelet dense granules.
Role of Tmem163 in zinc-regulated insulin storage of MIN6 cells: Functional exploration of an Indian type 2 diabetes GWAS associated gene.
Title: Role of Tmem163 in zinc-regulated insulin storage of MIN6 cells: Functional exploration of an Indian type 2 diabetes GWAS associated gene.
TMEM163 is a member of the CDF family of zinc efflux transporters.
Title: Transmembrane 163 (TMEM163) protein effluxes zinc.
rs7560738 associated with facial shape around eyes
Title: Genetics of the human face: Identification of large-effect single gene variants.
SNPs of TMEM-163 i.e. rs998451 and rs6723108 didnot show any significant association with T2D
Title: Replication of newly identified type 2 diabetes susceptible loci in Northwest Indian population.
TMEM163 is a putative zinc transporter, a novel interacting partner for TRPML1, essential for zinc homeostasis.
Title: Cellular zinc levels are modulated by TRPML1-TMEM163 interaction.
Data suggest that SNP within TMEM163 (rs998451) and SNP near TMEM163 (rs6723108) are associated with type 2 diabetes and insulin resistance in subjects in India (versus Indo-Europeans and Dravidians). [META-ANALYSIS; Genome-Wide Association Studies]
Title: Genome-wide association study for type 2 diabetes in Indians identifies a new susceptibility locus at 2q21.

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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

Associated conditions

Description	Tests
Leukodystrophy, hypomyelinating, 25 MedGen: C5830275 OMIM: 620243 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Genome-wide association study for type 2 diabetes in Indians identifies a new susceptibility locus at 2q21. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. 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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of transmembrane protein 163 (TMEM163) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-147109 (e-PCR)
- UniSTS:175616

SHGC-153868 (e-PCR)
- UniSTS:177966

SHGC-147228 (e-PCR)
- UniSTS:175688

D2S2773 (e-PCR)
- UniSTS:49237

SHGC-145649 (e-PCR)
- UniSTS:174705

ha2183 (e-PCR)
- UniSTS:515504

WI-13570 (e-PCR)
- UniSTS:56537

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables zinc ion binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in myelination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in zinc export across plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in zinc ion import into synaptic vesicle	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in early endosome membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in late endosome membrane	IEA Inferred from Electronic Annotation more info
located_in lysosomal membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
is_active_in synaptic vesicle membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in synaptic vesicle membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: transmembrane protein 163

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.