TMEM86B transmembrane protein 86B [Homo sapiens (human)] - Gene

Summary

Official Symbol: TMEM86Bprovided by HGNC
Official Full Name: transmembrane protein 86Bprovided by HGNC
Primary source: HGNC:HGNC:28448
See related: Ensembl:ENSG00000180089 MIM:617806; AllianceGenome:HGNC:28448
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: Enables D-lysine 5,6-aminomutase activity; alkenylglycerophosphocholine hydrolase activity; and identical protein binding activity. Involved in ether lipid metabolic process. Located in cytoplasm and membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in gall bladder (RPKM 7.8), duodenum (RPKM 5.4) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.42

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (55226638..55228763, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (58320598..58322723, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (55738006..55740131, complement)

Chromosome 19 - NC_000019.10 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: HPA RNA-seq normal tissues 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?

Transient transfection of human embryonic kidney (HEK) 293T cells showed that TMEM86b cDNA yielded lysoplasmalogenase activity, and Western blot analyses confirmed the synthesis of TMEM86b protein
Title: Purification, identification, and cloning of lysoplasmalogenase, the enzyme that catalyzes hydrolysis of the vinyl ether bond of lysoplasmalogen.

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

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables D-lysine 5,6-aminomutase activity	IBA Inferred from Biological aspect of Ancestor more info
enables D-lysine 5,6-aminomutase activity	IDA Inferred from Direct Assay more info	PubMed
enables alkenylglycerophosphocholine hydrolase activity	IBA Inferred from Biological aspect of Ancestor more info
enables alkenylglycerophosphocholine hydrolase activity	IDA Inferred from Direct Assay more info	PubMed
enables ether hydrolase activity	TAS Traceable Author Statement more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in ether lipid metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in ether lipid metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in phosphatidylcholine acyl-chain remodeling	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: lysoplasmalogenase TMEM86B

Names: alkenylglycerophosphocholine hydrolase; alkenylglycerophosphoethanolamine hydrolase; lysoplasmalogenase

NP_001358942.1

EC 3.3.2.2

NP_776165.3

EC 3.3.2.2

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.