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

Summary

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. 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]
Orthologs: mouse all
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Genomic context

Location:: 14q23.1

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (61277370..61281338, complement)
RS_2023_03	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (55483965..55487943, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (61744088..61748056, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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 EBI GWAS CatalogPubMed

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

G31464 (e-PCR)
- UniSTS:74252

NoName (e-PCR)
- UniSTS:485699

RH91843 (e-PCR)
- UniSTS:83892

Homology

Orthologs from Annotation Pipeline: 228 organisms have orthologs with human gene TMEM30B
Orthologs

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	PubMed
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	PubMed
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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	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.