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

Gene ID: 54664, updated on 18-Jun-2019

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
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
Expression
Ubiquitous expression in thyroid (RPKM 21.7), brain (RPKM 18.1) and 25 other tissues See more
Orthologs

Genomic context

See TMEM106B in Genome Data Viewer
Location:
7p21.3
Exon count:
9
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (12211294..12243367)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (12250848..12276890)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene thrombospondin type 1 domain containing 7A Neighboring gene uncharacterized LOC105375151 Neighboring gene thyroid hormone receptor associated protein 3 pseudogene Neighboring gene uncharacterized LOC105375154 Neighboring gene von Willebrand factor D and EGF domains

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
LEUKODYSTROPHY, HYPOMYELINATING, 16
MedGen: C4693779 OMIM: 617964 GeneReviews: Not available
Compare labs

NHGRI 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.
NHGRI GWA Catalog
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
NHGRI GWA Catalog
Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).
NHGRI GWA Catalog
Genome-wide association study of Tourette's syndrome.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ11273, MGC33727

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
dendrite morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dendrite morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
lysosomal transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysosome localization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysosome localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
lysosome organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of dendrite development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endosome IDA
Inferred from Direct Assay
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
late endosome membrane IEA
Inferred from Electronic Annotation
more info
 
lysosomal membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysosomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
lysosome IDA
Inferred from Direct Assay
more info
 

NCBI Reference Sequences (RefSeq)

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)

  1. NM_001134232.2NP_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
    Q9NUM4
    UniProtKB/TrEMBL
    A0A024R9Z1
    Related
    ENSP00000379902.3, ENST00000396668.8
    Conserved Domains (1) summary
    pfam07092
    Location:27258
    DUF1356; Protein of unknown function (DUF1356)
  2. NM_018374.4NP_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
    Q9NUM4
    UniProtKB/TrEMBL
    A0A024R9Z1
    Related
    ENSP00000379901.2, ENST00000396667.7
    Conserved Domains (1) summary
    pfam07092
    Location:27258
    DUF1356; Protein of unknown function (DUF1356)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    12211294..12243367
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005249789.1XP_005249846.1  transmembrane protein 106B isoform X1

    See identical proteins and their annotated locations for XP_005249846.1

    UniProtKB/Swiss-Prot
    Q9NUM4
    UniProtKB/TrEMBL
    A0A024R9Z1
    Conserved Domains (1) summary
    pfam07092
    Location:27258
    DUF1356; Protein of unknown function (DUF1356)
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