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TMEM106C transmembrane protein 106C [ Homo sapiens (human) ]

Gene ID: 79022, updated on 18-Aug-2020

Summary

Official Symbol
TMEM106Cprovided by HGNC
Official Full Name
transmembrane protein 106Cprovided by HGNC
Primary source
HGNC:HGNC:28775
See related
Ensembl:ENSG00000134291
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
Expression
Ubiquitous expression in colon (RPKM 50.8), small intestine (RPKM 47.7) and 25 other tissues See more
Orthologs

Genomic context

See TMEM106C in Genome Data Viewer
Location:
12q13.11
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (47963596..47968878)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (48357330..48362661)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2354 Neighboring gene vitamin D receptor Neighboring gene uncharacterized LOC105369752 Neighboring gene collagen type II alpha 1 chain Neighboring gene uncharacterized LOC105369750

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC5576, MGC111210

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
biological_process ND
No biological Data available
more info
 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
transmembrane protein 106C
Names
endoplasmic reticulum membrane protein overexpressed in cancer

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_001143841.2NP_001137313.1  transmembrane protein 106C isoform b

    See identical proteins and their annotated locations for NP_001137313.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses an alternate in-frame splice junction at the 3' end of a coding exon and differs in the 5' UTR compared to variant 1. The resulting isoform (b) lacks a 19 aa internal segment compared to isoform a. Variants 3 and 4 both encode isoform b.
    Source sequence(s)
    BC000854, BQ227924, DA571733
    Consensus CDS
    CCDS44867.1
    UniProtKB/Swiss-Prot
    Q9BVX2
    Related
    ENSP00000256686.6, ENST00000256686.10
    Conserved Domains (1) summary
    pfam07092
    Location:19229
    DUF1356; Protein of unknown function (DUF1356)
  2. NM_001143842.2NP_001137314.1  transmembrane protein 106C isoform a

    See identical proteins and their annotated locations for NP_001137314.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Variants 1 and 2 both encode isoform a.
    Source sequence(s)
    BC000854, CN256547, CX763149, DA571733
    Consensus CDS
    CCDS8758.1
    UniProtKB/Swiss-Prot
    Q9BVX2
    Related
    ENSP00000400471.2, ENST00000429772.7
    Conserved Domains (1) summary
    pfam07092
    Location:19248
    DUF1356; Protein of unknown function (DUF1356)
  3. NM_001143843.2NP_001137315.1  transmembrane protein 106C isoform b

    See identical proteins and their annotated locations for NP_001137315.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice junction at the 3' end of a coding exon compared to variant 1. The resulting isoform (b) lacks a 19 aa internal segment compared to isoform a. Variants 3 and 4 both encode isoform b.
    Source sequence(s)
    BC000854, CX763149, DA571733
    Consensus CDS
    CCDS44867.1
    UniProtKB/Swiss-Prot
    Q9BVX2
    Related
    ENSP00000402705.2, ENST00000449758.6
    Conserved Domains (1) summary
    pfam07092
    Location:19229
    DUF1356; Protein of unknown function (DUF1356)
  4. NM_024056.4NP_076961.1  transmembrane protein 106C isoform a

    See identical proteins and their annotated locations for NP_076961.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode isoform a.
    Source sequence(s)
    AK313698, BC000854, DA571733
    Consensus CDS
    CCDS8758.1
    UniProtKB/Swiss-Prot
    Q9BVX2
    Related
    ENSP00000446657.1, ENST00000552561.5
    Conserved Domains (1) summary
    pfam07092
    Location:19248
    DUF1356; Protein of unknown function (DUF1356)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    47963596..47968878
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024449183.1XP_024304951.1  transmembrane protein 106C isoform X2

  2. XM_024449182.1XP_024304950.1  transmembrane protein 106C isoform X1

    Conserved Domains (1) summary
    pfam07092
    Location:19248
    DUF1356; Protein of unknown function (DUF1356)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001143844.1: Suppressed sequence

    Description
    NM_001143844.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
  2. NM_001143845.1: Suppressed sequence

    Description
    NM_001143845.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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