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Aliases for TMEM30B Gene

Aliases for TMEM30B Gene

  • Transmembrane Protein 30B 2 3 4 5
  • P4-ATPase Flippase Complex Beta Subunit TMEM30B 3 4
  • CDC50B 3 4
  • Cell Cycle Control Protein 50B 3

External Ids for TMEM30B Gene

Previous GeneCards Identifiers for TMEM30B Gene

  • GC14M059735
  • GC14M060814
  • GC14M061744
  • GC14M041907

Summaries for TMEM30B Gene

GeneCards Summary for TMEM30B Gene

TMEM30B (Transmembrane Protein 30B) is a Protein Coding gene. An important paralog of this gene is TMEM30A.

UniProtKB/Swiss-Prot for TMEM30B Gene

  • Accessory component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules. The beta subunit may assist in binding of the phospholipid substrate (Probable). Can mediate the export of alpha subunits ATP8A1, ATP8B1, ATP8B2 and ATP8B4 from the ER to the plasma membrane.

Additional gene information for TMEM30B Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM30B Gene

Genomics for TMEM30B Gene

Regulatory Elements for TMEM30B Gene

Enhancers for TMEM30B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14H061320 2 FANTOM5 Ensembl ENCODE dbSUPER 16.4 -55.6 -55573 33 HDGF PKNOX1 FOXA2 ARNT SIN3A YBX1 FEZF1 ZNF2 ZNF143 ZNF207 PRKCH TRMT5 TMEM30B SLC38A6 LOC105370527 ENSG00000247287 GC14M061347
GH14H060640 2.1 VISTA Ensembl ENCODE dbSUPER 10.7 +631.7 631657 19 PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 TRMT5 SLC38A6 PCNX4 C14orf39 LOC101927702 SIX4 TMEM30B MNAT1 SIX6 RNU6-398P
GH14H061376 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.1 -103.3 -103331 17 HDGF PKNOX1 FEZF1 YBX1 ZNF2 TCF12 ZNF121 ZNF207 FOS ATF7 PRKCH TMEM30B SALRNA1 LOC105370525 ENSG00000247287 GC14M061347
GH14H061456 1 ENCODE dbSUPER 10.7 -175.0 -174998 0 HDGF CTCF RB1 BACH1 EBF1 RAD21 ZBTB48 SMC3 ZNF143 RUNX3 TMEM30B GC14M061347 ENSG00000247287
GH14H060636 1 Ensembl ENCODE dbSUPER 10.1 +643.9 643872 2 ZNF202 SUZ12 EZH2 C14orf39 TRMT5 SIX1 SIX4 TMEM30B SALRNA1 RPS15AP4
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TMEM30B on UCSC Golden Path with GeneCards custom track

Promoters for TMEM30B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000069343 740 1401 GTF2F1 CTCF PKNOX1 ESRRA NFIB SIN3A ZBTB40 RAD21 ZBTB7B YY1

Genomic Location for TMEM30B Gene

Chromosome:
14
Start:
61,277,370 bp from pter
End:
61,281,840 bp from pter
Size:
4,471 bases
Orientation:
Minus strand

Genomic View for TMEM30B Gene

Genes around TMEM30B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM30B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM30B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM30B Gene

Proteins for TMEM30B Gene

  • Protein details for TMEM30B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3MIR4-CC50B_HUMAN
    Recommended name:
    Cell cycle control protein 50B
    Protein Accession:
    Q3MIR4
    Secondary Accessions:
    • B3KR84
    • Q14D00

    Protein attributes for TMEM30B Gene

    Size:
    351 amino acids
    Molecular mass:
    38941 Da
    Quaternary structure:
    • Component of a P4-ATPase flippase complex which consists of a catalytic alpha subunit and an accessory beta subunit (Probable). Interacts with alpha subunits ATP8A1, ATP8B1, ATP8B2 and ATP8B4.

neXtProt entry for TMEM30B Gene

Post-translational modifications for TMEM30B Gene

  • Glycosylation at Asn75, Asn213, and Asn286
  • Modification sites at PhosphoSitePlus

Other Protein References for TMEM30B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TMEM30B Gene

Domains & Families for TMEM30B Gene

Gene Families for TMEM30B Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for TMEM30B Gene

Suggested Antigen Peptide Sequences for TMEM30B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q3MIR4

UniProtKB/Swiss-Prot:

CC50B_HUMAN :
  • Belongs to the CDC50/LEM3 family.
Family:
  • Belongs to the CDC50/LEM3 family.
genes like me logo Genes that share domains with TMEM30B: view

Function for TMEM30B Gene

Molecular function for TMEM30B Gene

UniProtKB/Swiss-Prot Function:
Accessory component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules. The beta subunit may assist in binding of the phospholipid substrate (Probable). Can mediate the export of alpha subunits ATP8A1, ATP8B1, ATP8B2 and ATP8B4 from the ER to the plasma membrane.

Phenotypes From GWAS Catalog for TMEM30B Gene

Gene Ontology (GO) - Molecular Function for TMEM30B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21914794
GO:0015247 aminophospholipid transporter activity IDA 20510206
genes like me logo Genes that share ontologies with TMEM30B: view
genes like me logo Genes that share phenotypes with TMEM30B: view

Animal Models for TMEM30B Gene

MGI Knock Outs for TMEM30B:

Animal Model Products

CRISPR Products

miRNA for TMEM30B Gene

miRTarBase miRNAs that target TMEM30B

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TMEM30B
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TMEM30B Gene

Localization for TMEM30B Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM30B Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TMEM30B gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for TMEM30B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMEM30B: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TMEM30B Gene

Pathways & Interactions for TMEM30B Gene

SuperPathways for TMEM30B Gene

No Data Available

Interacting Proteins for TMEM30B Gene

Selected Interacting proteins: Q3MIR4-CC50B_HUMAN for TMEM30B Gene via IID

Gene Ontology (GO) - Biological Process for TMEM30B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006869 lipid transport IEA --
GO:0015917 aminophospholipid transport IDA 20510206
GO:0070863 positive regulation of protein exit from endoplasmic reticulum IDA 21914794
genes like me logo Genes that share ontologies with TMEM30B: view

No data available for Pathways by source and SIGNOR curated interactions for TMEM30B Gene

Drugs & Compounds for TMEM30B Gene

No Compound Related Data Available

Transcripts for TMEM30B Gene

mRNA/cDNA for TMEM30B Gene

Unigene Clusters for TMEM30B Gene

Transmembrane protein 30B:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TMEM30B
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM30B Gene

No ASD Table

Relevant External Links for TMEM30B Gene

GeneLoc Exon Structure for
TMEM30B
ECgene alternative splicing isoforms for
TMEM30B

Expression for TMEM30B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TMEM30B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TMEM30B Gene

This gene is overexpressed in Prostate (28.0), Rectum (20.4), and Pancreas (17.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TMEM30B Gene



Protein tissue co-expression partners for TMEM30B Gene

NURSA nuclear receptor signaling pathways regulating expression of TMEM30B Gene:

TMEM30B

SOURCE GeneReport for Unigene cluster for TMEM30B Gene:

Hs.146180

Evidence on tissue expression from TISSUES for TMEM30B Gene

  • Lung(4.3)
  • Heart(4.1)
genes like me logo Genes that share expression patterns with TMEM30B: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM30B Gene

Orthologs for TMEM30B Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TMEM30B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM30B 33
  • 99.43 (n)
cow
(Bos Taurus)
Mammalia TMEM30B 33 34
  • 93.83 (n)
mouse
(Mus musculus)
Mammalia Tmem30b 33 16 34
  • 91.03 (n)
rat
(Rattus norvegicus)
Mammalia Tmem30b 33
  • 90.74 (n)
dog
(Canis familiaris)
Mammalia TMEM30B 34
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TMEM30B 34
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 27 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia TMEM30B 34
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem30b 33
  • 55.45 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:91908 33
  • 56.75 (n)
TMEM30B 34
  • 56 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG9947 34
  • 45 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea chat-1 34
  • 41 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CDC50 34
  • 30 (a)
ManyToMany
-- 34
  • 28 (a)
ManyToMany
LEM3 34
  • 22 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 45 (a)
OneToMany
Species where no ortholog for TMEM30B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TMEM30B Gene

ENSEMBL:
Gene Tree for TMEM30B (if available)
TreeFam:
Gene Tree for TMEM30B (if available)

Paralogs for TMEM30B Gene

Paralogs for TMEM30B Gene

(1) SIMAP similar genes for TMEM30B Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for TMEM30B Gene

genes like me logo Genes that share paralogs with TMEM30B: view

Variants for TMEM30B Gene

Sequence variations from dbSNP and Humsavar for TMEM30B Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs1000015382 -- 61,279,929(+) AGCAG(-/CC)CCCCA upstream-variant-2KB, utr-variant-3-prime
rs1000209640 -- 61,280,367(+) GAACG(C/T)GGGCA upstream-variant-2KB, reference, missense
rs1002319814 -- 61,281,511(+) TCCTC(C/T)CCTAG intron-variant, utr-variant-5-prime
rs1003457619 -- 61,283,789(+) ATTGC(A/G)CCACT intron-variant, upstream-variant-2KB
rs1003597575 -- 61,277,187(+) ACACA(A/G)TGAGA downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for TMEM30B Gene

Variant ID Type Subtype PubMed ID
nsv564881 CNV gain 21841781

Variation tolerance for TMEM30B Gene

Gene Damage Index Score: 3.92; 59.45% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMEM30B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM30B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM30B Gene

Disorders for TMEM30B Gene

Relevant External Links for TMEM30B

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMEM30B

No disorders were found for TMEM30B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TMEM30B Gene

Publications for TMEM30B Gene

  1. Identification and characterization of CDC50A, CDC50B and CDC50C genes in silico. (PMID: 15375526) Katoh Y … Katoh M (Oncology reports 2004) 2 3 4 22 60
  2. ATP9B, a P4-ATPase (a putative aminophospholipid translocase), localizes to the trans-Golgi network in a CDC50 protein-independent manner. (PMID: 21914794) Takatsu H … Shin HW (The Journal of biological chemistry 2011) 3 4 60
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60

Products for TMEM30B Gene

Sources for TMEM30B Gene

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