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TMEM130 transmembrane protein 130 [ Homo sapiens (human) ]

Gene ID: 222865, updated on 27-Nov-2024

Summary

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Official Symbol
TMEM130provided by HGNC
Official Full Name
transmembrane protein 130provided by HGNC
Primary source
HGNC:HGNC:25429
See related
Ensembl:ENSG00000166448 AllianceGenome:HGNC:25429
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
Located in Golgi apparatus. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in brain (RPKM 64.7), testis (RPKM 27.5) and 2 other tissues See more
Orthologs
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Genomic context

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See TMEM130 in Genome Data Viewer
Location:
7q22.1
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (98846490..98870014, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (100079811..100103346, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (98444113..98467637, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375418 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:98359523-98360022 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:98383282-98383812 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:98383813-98384343 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18396 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26309 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18397 Neighboring gene RNA, U6 small nuclear 393, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:98423765-98424340 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26310 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:98445139-98446338 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:98448603-98449104 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:98450701-98451422 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:98466535-98467121 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:98467122-98467707 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18398 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18399 Neighboring gene small nucleolar RNA U13 Neighboring gene small Cajal body-specific RNA 28 Neighboring gene microRNA 3609 Neighboring gene transformation/transcription domain associated protein

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. The promoter aberrant methylation status of TMEM130 is associated with gastric cancer. Zhang Y, et al. Dig Liver Dis, 2022 Jun. PMID 34162508
  2. DNA methylation-mediated down-regulation of TMEM130 promotes cell migration in breast cancer. Liu H, et al. Acta Histochem, 2021 Dec. PMID 34763116
  3. Functional Domains and Evolutionary History of the PMEL and GPNMB Family Proteins. Chrystal PW, et al. Molecules, 2021 Jun 9. PMID 34207849, Free PMC Article
  4. Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. Simpson JC, et al. EMBO Rep, 2000 Sep. PMID 11256614, Free PMC Article
  5. Human chromosome 7: DNA sequence and biology. Scherer SW, et al. Science, 2003 May 2. PMID 12690205, Free PMC Article

See all (17) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The promoter aberrant methylation status of TMEM130 is associated with gastric cancer.
    Title: The promoter aberrant methylation status of TMEM130 is associated with gastric cancer.
  2. DNA methylation-mediated down-regulation of TMEM130 promotes cell migration in breast cancer.
    Title: DNA methylation-mediated down-regulation of TMEM130 promotes cell migration in breast cancer.
  3. Functional Domains and Evolutionary History of the PMEL and GPNMB Family Proteins.
    Title: Functional Domains and Evolutionary History of the PMEL and GPNMB Family Proteins.
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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Markers

Homology

Clone Names

  • FLJ42643, DKFZp761L1417

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
  
located_in Golgi membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
transmembrane protein 130

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)

  1. NM_001134450.2 → NP_001127922.1  transmembrane protein 130 isoform a precursor

    See identical proteins and their annotated locations for NP_001127922.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AC095044, AL834349, DA144530, DA154119
    Consensus CDS
    CCDS47650.1
    UniProtKB/Swiss-Prot
    A4D266, B7Z364, Q8IY46, Q8N0W9, Q8N3G9, Q8N3R2
    UniProtKB/TrEMBL
    B2R5Y5
    Related
    ENSP00000413163.2, ENST00000416379.6
    Conserved Domains (1) summary
    cd00146
    Location:144 → 210
    PKD; polycystic kidney disease I (PKD) domain; similar to other cell-surface modules, with an IG-like fold; domain probably functions as a ligand binding site in protein-protein or protein-carbohydrate interactions; a single instance of the repeat is ...

  2. NM_001134451.2 → NP_001127923.1  transmembrane protein 130 isoform c precursor

    See identical proteins and their annotated locations for NP_001127923.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site at the end of an exon and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (c) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AC095044, BC030793, BC037895, DA144530
    Consensus CDS
    CCDS47649.1
    UniProtKB/TrEMBL
    G3V0E7
    Related
    ENSP00000330262.4, ENST00000345589.4
    Conserved Domains (1) summary
    cd00146
    Location:42 → 108
    PKD; polycystic kidney disease I (PKD) domain; similar to other cell-surface modules, with an IG-like fold; domain probably functions as a ligand binding site in protein-protein or protein-carbohydrate interactions; a single instance of the repeat is ...

  3. NM_152913.3 → NP_690877.1  transmembrane protein 130 isoform b precursor

    See identical proteins and their annotated locations for NP_690877.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site at the end of an exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AC095044, AL834348, BC030793, DA144530
    Consensus CDS
    CCDS5658.1
    UniProtKB/TrEMBL
    B2R5Y5
    Related
    ENSP00000341256.4, ENST00000339375.9
    Conserved Domains (1) summary
    cd00146
    Location:144 → 210
    PKD; polycystic kidney disease I (PKD) domain; similar to other cell-surface modules, with an IG-like fold; domain probably functions as a ligand binding site in protein-protein or protein-carbohydrate interactions; a single instance of the repeat is ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    98846490..98870014 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    100079811..100103346 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N3G9.1 GenPept UniProtKB/Swiss-Prot:Q8N3G9

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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