TMEM106B transmembrane protein 106B [Homo sapiens (human)] - Gene

Summary

Official Symbol: TMEM106Bprovided by HGNC
Official Full Name: transmembrane protein 106Bprovided by HGNC
Primary source: HGNC:HGNC:22407
See related: Ensembl:ENSG00000106460 MIM:613413; AllianceGenome:HGNC:22407
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: HLD16
Summary: Enables ATPase binding activity. Involved in dendrite morphogenesis and lysosome localization. Located in endosome and lysosomal membrane. Implicated in hypomyelinating leukodystrophy. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in thyroid (RPKM 21.7), brain (RPKM 18.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7p21.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (12211294..12243367)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (12342181..12373955)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (12250920..12282993)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

TMEM106B core deposition associates with TDP-43 pathology and is increased in risk SNP carriers for frontotemporal dementia.
Title: TMEM106B core deposition associates with TDP-43 pathology and is increased in risk SNP carriers for frontotemporal dementia.
C-terminal TMEM106B fragments in human brain correlate with disease-associated TMEM106B haplotypes.
Title: C-terminal TMEM106B fragments in human brain correlate with disease-associated TMEM106B haplotypes.
The major TMEM106B dementia risk allele affects TMEM106B protein levels, fibril formation, and myelin lipid homeostasis in the ageing human hippocampus.
Title: The major TMEM106B dementia risk allele affects TMEM106B protein levels, fibril formation, and myelin lipid homeostasis in the ageing human hippocampus.
Superresolution live-cell imaging reveals that the localization of TMEM106B to filopodia in oligodendrocytes is compromised by the hypomyelination-related D252N mutation.
Title: Superresolution live-cell imaging reveals that the localization of TMEM106B to filopodia in oligodendrocytes is compromised by the hypomyelination-related D252N mutation.
TMEM106B Fibrils from FTLD Patients and Healthy Controls.
Title: TMEM106B Fibrils from FTLD Patients and Healthy Controls.
TMEM106B aggregation in neurodegenerative diseases: linking genetics to function.
Title: TMEM106B aggregation in neurodegenerative diseases: linking genetics to function.
TMEM106B is a receptor mediating ACE2-independent SARS-CoV-2 cell entry.
Title: TMEM106B is a receptor mediating ACE2-independent SARS-CoV-2 cell entry.
Accumulation of TMEM106B C-terminal fragments in neurodegenerative disease and aging.
Title: Accumulation of TMEM106B C-terminal fragments in neurodegenerative disease and aging.
Identification of TMEM106B amyloid fibrils provides an updated view of TMEM106B biology in health and disease.
Title: Identification of TMEM106B amyloid fibrils provides an updated view of TMEM106B biology in health and disease.
TMEM106B Acts as a Modifier of Cognitive and Motor Functions in Amyotrophic Lateral Sclerosis.
Title: TMEM106B Acts as a Modifier of Cognitive and Motor Functions in Amyotrophic Lateral Sclerosis.

Submit: New GeneRIF Correction See all GeneRIFs (67)

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, 16 MedGen: C4693779 OMIM: 617964 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genetic association with overall survival of taxane-treated lung cancer patients - A genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13). EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of Tourette's syndrome. 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

SHGC-31421 (e-PCR)
- UniSTS:61500

RH48003 (e-PCR)
- UniSTS:40800

RH93650 (e-PCR)
- UniSTS:88674

STS-N51331 (e-PCR)
- UniSTS:29040

GDB:1318094 (e-PCR)
- UniSTS:66477

SHGC-64764 (e-PCR)
- UniSTS:95412

SHGC-106068 (e-PCR)
- UniSTS:169653

RH45871 (e-PCR)
- UniSTS:186

RH77854 (e-PCR)
- UniSTS:87745

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATPase binding	IPI Inferred from Physical Interaction more info	PubMed
enables molecular_function	ND No biological Data available more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in dendrite morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in dendrite morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lysosomal lumen acidification	IEA Inferred from Electronic Annotation more info
involved_in lysosomal protein catabolic process	IEA Inferred from Electronic Annotation more info
involved_in lysosomal transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in lysosome localization	IBA Inferred from Biological aspect of Ancestor more info
involved_in lysosome localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lysosome organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in neuron cellular homeostasis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of dendrite development	IEA Inferred from Electronic Annotation more info
involved_in regulation of lysosome organization	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in endosome	IDA Inferred from Direct Assay more info
located_in late endosome membrane	IEA Inferred from Electronic Annotation more info
is_active_in lysosomal membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in lysosomal membrane	IDA Inferred from Direct Assay more info	PubMed
located_in lysosome	IDA Inferred from Direct Assay more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: transmembrane protein 106B

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)

NM_001134232.2 → NP_001127704.1 transmembrane protein 106B

See identical proteins and their annotated locations for NP_001127704.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.

Source sequence(s)

AC007321, BC033901, DA452299

Consensus CDS

CCDS5358.1

UniProtKB/Swiss-Prot

A4D108, Q53FL9, Q8N4L0, Q9NUM4

UniProtKB/TrEMBL

A0A994J4M3

Related

ENSP00000379902.3, ENST00000396668.8

Conserved Domains (1) summary

pfam07092
Location:32 → 258

DUF1356; Protein of unknown function (DUF1356)
NM_018374.4 → NP_060844.2 transmembrane protein 106B

See identical proteins and their annotated locations for NP_060844.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.

Source sequence(s)

AC007321, BC033901, DA452299

Consensus CDS

CCDS5358.1

UniProtKB/Swiss-Prot

A4D108, Q53FL9, Q8N4L0, Q9NUM4

UniProtKB/TrEMBL

A0A994J4M3

Related

ENSP00000379901.2, ENST00000396667.7

Conserved Domains (1) summary

pfam07092
Location:32 → 258

DUF1356; Protein of unknown function (DUF1356)