TMEM167A transmembrane protein 167A [Homo sapiens (human)] - Gene

Summary

Official Symbol: TMEM167Aprovided by HGNC
Official Full Name: transmembrane protein 167Aprovided by HGNC
Primary source: HGNC:HGNC:28330
See related: Ensembl:ENSG00000174695 MIM:620000; AllianceGenome:HGNC:28330
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: kish; TMEM167
Summary: Involved in constitutive secretory pathway. Located in Golgi apparatus. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in adrenal (RPKM 30.5), brain (RPKM 22.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q14.2

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (83052846..83077394, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (83538672..83566523, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (82348665..82373213, complement)

Chromosome 5 - NC_000005.10 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

DISCUSSION The results presented here show that kish/TMEM167A, a protein associated with vesicle transport and secretion,also is necessary for glioma growth, both in human cell xenografts and Drosophila models.
Title: Oncogenic dependence of glioma cells on kish/TMEM167A regulation of vesicular trafficking.

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis identifies loci affecting levels of the potential osteoarthritis biomarkers sCOMP and uCTX-II with genome wide significance. 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

SGC38225 (e-PCR)
- UniSTS:6401

A007J27 (e-PCR)
- UniSTS:8240

RH69439 (e-PCR)
- UniSTS:92037

WI-11874 (e-PCR)
- UniSTS:80819

G20377 (e-PCR)
- UniSTS:46333

A005O23 (e-PCR)
- UniSTS:46334

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in constitutive secretory pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in intracellular transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein secretion	IBA Inferred from Biological aspect of Ancestor more info

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

General protein information

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Preferred Names: protein kish-A

Names: transmembrane protein 167

NP_777569.1

EC 3.6.5.4

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.