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    TMEM30B transmembrane protein 30B [ Homo sapiens (human) ]

    Gene ID: 161291, updated on 2-Nov-2024

    Summary

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    Official Symbol
    TMEM30Bprovided by HGNC
    Official Full Name
    transmembrane protein 30Bprovided by HGNC
    Primary source
    HGNC:HGNC:27254
    See related
    Ensembl:ENSG00000182107 MIM:611029; AllianceGenome:HGNC:27254
    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
    CDC50B
    Summary
    Enables aminophospholipid flippase activity. Involved in aminophospholipid transport and positive regulation of protein exit from endoplasmic reticulum. Part of phospholipid-translocating ATPase complex and plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Orthologs
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    Genomic context

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    See TMEM30B in Genome Data Viewer
    Location:
    14q23.1
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (61277370..61281338, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (55483965..55487943, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (61744088..61748056, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 5996 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8484 Neighboring gene RNA, U6 small nuclear 398, pseudogene Neighboring gene solute carrier family 38 member 6 Neighboring gene tRNA methyltransferase 5 Neighboring gene uncharacterized LOC101927756 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:61555743-61556244 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8485 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:61567888-61568804 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:61570068-61571267 Neighboring gene Sharpr-MPRA regulatory region 14232 Neighboring gene NANOG hESC enhancer GRCh37_chr14:61641010-61641511 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:61644371-61644872 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr14:61644987-61646186 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8486 Neighboring gene protein kinase C eta Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:61721487-61722686 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:61736629-61737128 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:61746518-61747481 Neighboring gene PRKCH antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 13098 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:61789186-61789729 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:61788641-61789185 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5817 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5818 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8487 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5819 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:61822129-61823328 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8488 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8489 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8490 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8491 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5820 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8492 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_34674 Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_34693 and experimental_34700 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_34691 Neighboring gene Sharpr-MPRA regulatory region 10871 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:61932802-61933718 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8493 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8494 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8495 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_34726 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_34735 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:61972906-61973478 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_34774 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8496 Neighboring gene uncharacterized LOC105370525 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:62004017-62005216

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Differential expression profiling analyses identifies downregulation of 1p, 6q, and 14q genes and overexpression of 6p histone cluster 1 genes as markers of recurrence in meningiomas. Pérez-Magán E, et al. Neuro Oncol, 2010 Dec. PMID 20685720, Free PMC Article
    2. Identification and characterization of CDC50A, CDC50B and CDC50C genes in silico. Katoh Y, et al. Oncol Rep, 2004 Oct. PMID 15375526
    3. CDC50 proteins are critical components of the human class-1 P4-ATPase transport machinery. Bryde S, et al. J Biol Chem, 2010 Dec 24. PMID 20961850, Free PMC Article
    4. CDC50A plays a key role in the uptake of the anticancer drug perifosine in human carcinoma cells. Muñoz-Martínez F, et al. Biochem Pharmacol, 2010 Sep 15. PMID 20510206
    5. Heteromeric interactions required for abundance and subcellular localization of human CDC50 proteins and class 1 P4-ATPases. van der Velden LM, et al. J Biol Chem, 2010 Dec 17. PMID 20947505, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Downregulation of TMEM30B is associated with recurrence in meningiomas.
      Title: Differential expression profiling analyses identifies downregulation of 1p, 6q, and 14q genes and overexpression of 6p histone cluster 1 genes as markers of recurrence in meningiomas.
    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

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC126775

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables aminophospholipid flippase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in aminophospholipid translocation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in aminophospholipid transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in phospholipid translocation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of protein exit from endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of phospholipid-translocating ATPase complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    cell cycle control protein 50B
    Names
    P4-ATPase flippase complex beta subunit TMEM30B

    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_001017970.3 → NP_001017970.1  cell cycle control protein 50B

      See identical proteins and their annotated locations for NP_001017970.1

      Status: VALIDATED

      Source sequence(s)
      AL359220, BC113559, DA431345, DA666826, DB220251, DB237714
      Consensus CDS
      CCDS32093.1
      UniProtKB/Swiss-Prot
      B3KR84, Q14D00, Q3MIR4
      Related
      ENSP00000450842.1, ENST00000555868.2
      Conserved Domains (1) summary
      pfam03381
      Location:55 → 340
      CDC50; LEM3 (ligand-effect modulator 3) family / CDC50 family

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      61277370..61281338 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      55483965..55487943 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3MIR4.1 GenPept UniProtKB/Swiss-Prot:Q3MIR4

    Gene LinkOut

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

    Chemical Information
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