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TMEM30CP transmembrane protein 30C, pseudogene [ Homo sapiens (human) ]

Gene ID: 644444, updated on 16-Jan-2024

Summary

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Official Symbol
TMEM30CPprovided by HGNC
Official Full Name
transmembrane protein 30C, pseudogeneprovided by HGNC
Primary source
HGNC:HGNC:30443
See related
Ensembl:ENSG00000293379 MIM:611030; AllianceGenome:HGNC:30443
Gene type
pseudo
RefSeq status
PROVISIONAL
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CDC50C; TMEM30C
Summary
Predicted to be involved in phospholipid translocation. Predicted to be integral component of membrane. Predicted to be active in Golgi apparatus; endoplasmic reticulum; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Low expression observed in reference dataset See more
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Genomic context

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Location:
3q12.1
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (100185824..100194186)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (102891160..102899523)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (99904668..99913030)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene cms1 ribosomal small subunit homolog Neighboring gene filamin A interacting protein 1 like Neighboring gene uncharacterized LOC124909400 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20150 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14567 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14568 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:99792322-99792856 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:99792857-99793391 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:99809017-99809517 Neighboring gene uncharacterized LOC105374009 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20151 Neighboring gene Sharpr-MPRA regulatory region 11159 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14569 Neighboring gene dual specificity phosphatase 12 pseudogene 1 Neighboring gene vesicle transport through interaction with t-SNAREs 1B pseudogene 1

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. Aberrant termination of reproduction-related TMEM30C transcripts in the hominoids. Osada N, et al. Gene, 2007 May 1. PMID 17258408
  2. Identification and characterization of CDC50A, CDC50B and CDC50C genes in silico. Katoh Y, et al. Oncol Rep, 2004 Oct. PMID 15375526
  3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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.

RNA

  1. NR_028357.1 RNA Sequence

    Status: PROVISIONAL

    Description
    Transcript Variant: This variant (1) represents the longer, three-exon transcript.
    Source sequence(s)
    AB249666, AC129803
    Related
    ENST00000489487.1

  2. NR_028358.1 RNA Sequence

    Status: PROVISIONAL

    Description
    Transcript Variant: This variant (2) represents the shorter, two-exon transcript.
    Source sequence(s)
    AB250297
    Related
    ENST00000476804.2

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    100185824..100194186
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    102891160..102899523
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A0ZSE6.2 GenPept UniProtKB/Swiss-Prot:A0ZSE6

Gene LinkOut

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