U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 161291, updated on 27-Nov-2024

Summary

Go to the top of the page Help
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
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Bibliography

Go to the top of the pageHelp

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

Go to the top of the page Help

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

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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

Go to the top of the page Help
Preferred Names
cell cycle control protein 50B
Names
P4-ATPase flippase complex beta subunit TMEM30B

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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
Molecular Biology Databases
Research Materials
Tools