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    MFSD13A major facilitator superfamily domain containing 13A [ Homo sapiens (human) ]

    Gene ID: 79847, updated on 2-Nov-2024

    Summary

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    Official Symbol
    MFSD13Aprovided by HGNC
    Official Full Name
    major facilitator superfamily domain containing 13Aprovided by HGNC
    Primary source
    HGNC:HGNC:26196
    See related
    Ensembl:ENSG00000138111 MIM:620255; AllianceGenome:HGNC:26196
    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
    TMEM180; C10orf77; bA18I14.8
    Summary
    Located in plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in brain (RPKM 9.0), lung (RPKM 6.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MFSD13A in Genome Data Viewer
    Location:
    10q24.32
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (102461395..102477045)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (103346383..103362022)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (104221152..104236802)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene C10orf95 antisense RNA 1 Neighboring gene microRNA 146b Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2760 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2761 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:104211267-104211949 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:104214138-104214726 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:104214727-104215314 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:104215315-104215904 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:104215905-104216492 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:104216493-104217081 Neighboring gene uncharacterized LOC124902493 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3937 Neighboring gene chromosome 10 open reading frame 95 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:104220868-104221551 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:104221552-104222234 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:104233222-104233665 Neighboring gene actin related protein 1A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:104260453-104260953 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3938 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2763 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2764 Neighboring gene Sharpr-MPRA regulatory region 236 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:104264916-104265416 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3939 Neighboring gene SUFU negative regulator of hedgehog signaling Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3940 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:104325435-104326134 Neighboring gene ribosomal protein L23a pseudogene 58

    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 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. Integrative Analyses Followed by Functional Characterization Reveal TMEM180 as a Schizophrenia Risk Gene. Wang JY, et al. Schizophr Bull, 2021 Aug 21. PMID 33768244, Free PMC Article
    2. Topological analysis of TMEM180, a newly identified membrane protein that is highly expressed in colorectal cancer cells. Anzai T, et al. Biochem Biophys Res Commun, 2019 Dec 10. PMID 31615651
    3. A functional variant in the boundary of a topological association domain is associated with pancreatic cancer risk. Mei S, et al. Mol Carcinog, 2019 Oct. PMID 31237042
    4. BRCA2 mediates centrosome cohesion via an interaction with cytoplasmic dynein. Malik S, et al. Cell Cycle, 2016 Aug 17. PMID 27433848, Free PMC Article
    5. Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. Eeles RA, et al. Nat Genet, 2013 Apr. PMID 23535732, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Integrative Analyses Followed by Functional Characterization Reveal TMEM180 as a Schizophrenia Risk Gene.
      Title: Integrative Analyses Followed by Functional Characterization Reveal TMEM180 as a Schizophrenia Risk Gene.
    2. Using a homology model of TMEM180, we experimentally determined that the protein has 12 transmembrane domains, and that its N-terminal and C-termini are exposed extracellularly. Moreover, we found that the putative cation-binding site of TMEM180 is conserved among orthologs, and that its position is similar to that of melibiose transporter MelB.
      Title: Topological analysis of TMEM180, a newly identified membrane protein that is highly expressed in colorectal cancer cells.
    3. The allele G of rs2001389 weakened the binding activity with CTCF, and it was related to the lower expression of a putative antioncogene MFSD13A whose knockdown promoted proliferation of PC cells. By integrating analysis on multiomics data, association studies and functional assays, we proposed that the common variant rs2001389 and the gene MFSD13A might be genetic modifiers of PC tumorigenesis.
      Title: A functional variant in the boundary of a topological association domain is associated with pancreatic cancer risk.
    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
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    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

    • FLJ22529

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    transmembrane protein 180

    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_024789.4 → NP_079065.2  transmembrane protein 180

      See identical proteins and their annotated locations for NP_079065.2

      Status: VALIDATED

      Source sequence(s)
      AL121928, BC057787, BG830198
      Consensus CDS
      CCDS7535.1
      UniProtKB/Swiss-Prot
      Q14CX5, Q6NWM8, Q6NWM9, Q6PEZ7, Q9H679
      Related
      ENSP00000238936.3, ENST00000238936.8
      Conserved Domains (1) summary
      cl26210
      Location:23 → 426
      MFS_2; MFS/sugar transport protein

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      102461395..102477045
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011540160.3 → XP_011538462.1  transmembrane protein 180 isoform X1

      See identical proteins and their annotated locations for XP_011538462.1

      UniProtKB/Swiss-Prot
      Q14CX5, Q6NWM8, Q6NWM9, Q6PEZ7, Q9H679
      Conserved Domains (1) summary
      cl26210
      Location:23 → 426
      MFS_2; MFS/sugar transport protein

    2. XM_006717973.4 → XP_006718036.1  transmembrane protein 180 isoform X1

      See identical proteins and their annotated locations for XP_006718036.1

      UniProtKB/Swiss-Prot
      Q14CX5, Q6NWM8, Q6NWM9, Q6PEZ7, Q9H679
      Conserved Domains (1) summary
      cl26210
      Location:23 → 426
      MFS_2; MFS/sugar transport protein

    3. XM_024448171.2 → XP_024303939.1  transmembrane protein 180 isoform X2

    4. XM_011540163.3 → XP_011538465.1  transmembrane protein 180 isoform X1

      See identical proteins and their annotated locations for XP_011538465.1

      UniProtKB/Swiss-Prot
      Q14CX5, Q6NWM8, Q6NWM9, Q6PEZ7, Q9H679
      Conserved Domains (1) summary
      cl26210
      Location:23 → 426
      MFS_2; MFS/sugar transport protein

    5. XM_047425757.1 → XP_047281713.1  transmembrane protein 180 isoform X2

    6. XM_017016654.2 → XP_016872143.1  transmembrane protein 180 isoform X1

      UniProtKB/Swiss-Prot
      Q14CX5, Q6NWM8, Q6NWM9, Q6PEZ7, Q9H679
      Conserved Domains (1) summary
      cl26210
      Location:23 → 426
      MFS_2; MFS/sugar transport protein

    7. XM_047425756.1 → XP_047281712.1  transmembrane protein 180 isoform X2

    8. XM_047425755.1 → XP_047281711.1  transmembrane protein 180 isoform X2

    9. XM_006717974.4 → XP_006718037.1  transmembrane protein 180 isoform X1

      See identical proteins and their annotated locations for XP_006718037.1

      UniProtKB/Swiss-Prot
      Q14CX5, Q6NWM8, Q6NWM9, Q6PEZ7, Q9H679
      Conserved Domains (1) summary
      cl26210
      Location:23 → 426
      MFS_2; MFS/sugar transport protein

    10. XM_011540167.3 → XP_011538469.1  transmembrane protein 180 isoform X2

      See identical proteins and their annotated locations for XP_011538469.1

    11. XM_017016661.2 → XP_016872150.1  transmembrane protein 180 isoform X3

      Conserved Domains (1) summary
      cl26210
      Location:23 → 276
      MFS_2; MFS/sugar transport protein

    12. XM_017016662.2 → XP_016872151.1  transmembrane protein 180 isoform X3

      Conserved Domains (1) summary
      cl26210
      Location:23 → 276
      MFS_2; MFS/sugar transport protein

    13. XM_047425759.1 → XP_047281715.1  transmembrane protein 180 isoform X3

    14. XM_024448172.2 → XP_024303940.1  transmembrane protein 180 isoform X3

      Conserved Domains (1) summary
      cl26210
      Location:23 → 276
      MFS_2; MFS/sugar transport protein

    15. XM_047425751.1 → XP_047281707.1  transmembrane protein 180 isoform X1

      UniProtKB/Swiss-Prot
      Q14CX5, Q6NWM8, Q6NWM9, Q6PEZ7, Q9H679

    16. XM_047425753.1 → XP_047281709.1  transmembrane protein 180 isoform X1

      UniProtKB/Swiss-Prot
      Q14CX5, Q6NWM8, Q6NWM9, Q6PEZ7, Q9H679

    17. XM_017016655.1 → XP_016872144.1  transmembrane protein 180 isoform X1

      UniProtKB/Swiss-Prot
      Q14CX5, Q6NWM8, Q6NWM9, Q6PEZ7, Q9H679
      Conserved Domains (1) summary
      cl26210
      Location:23 → 426
      MFS_2; MFS/sugar transport protein

    18. XM_047425752.1 → XP_047281708.1  transmembrane protein 180 isoform X1

      UniProtKB/Swiss-Prot
      Q14CX5, Q6NWM8, Q6NWM9, Q6PEZ7, Q9H679

    19. XM_047425758.1 → XP_047281714.1  transmembrane protein 180 isoform X2

    20. XM_047425754.1 → XP_047281710.1  transmembrane protein 180 isoform X1

      UniProtKB/Swiss-Prot
      Q14CX5, Q6NWM8, Q6NWM9, Q6PEZ7, Q9H679

    21. XM_047425760.1 → XP_047281716.1  transmembrane protein 180 isoform X4

      UniProtKB/TrEMBL
      B4DKJ1

    22. XM_047425761.1 → XP_047281717.1  transmembrane protein 180 isoform X4

      UniProtKB/TrEMBL
      B4DKJ1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      103346383..103362022
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366742.1 → XP_054222717.1  transmembrane protein 180 isoform X1

      UniProtKB/Swiss-Prot
      Q14CX5, Q6NWM8, Q6NWM9, Q6PEZ7, Q9H679

    2. XM_054366738.1 → XP_054222713.1  transmembrane protein 180 isoform X1

      UniProtKB/Swiss-Prot
      Q14CX5, Q6NWM8, Q6NWM9, Q6PEZ7, Q9H679

    3. XM_054366748.1 → XP_054222723.1  transmembrane protein 180 isoform X2

    4. XM_054366739.1 → XP_054222714.1  transmembrane protein 180 isoform X1

      UniProtKB/Swiss-Prot
      Q14CX5, Q6NWM8, Q6NWM9, Q6PEZ7, Q9H679

    5. XM_054366749.1 → XP_054222724.1  transmembrane protein 180 isoform X2

    6. XM_054366736.1 → XP_054222711.1  transmembrane protein 180 isoform X1

      UniProtKB/Swiss-Prot
      Q14CX5, Q6NWM8, Q6NWM9, Q6PEZ7, Q9H679

    7. XM_054366747.1 → XP_054222722.1  transmembrane protein 180 isoform X2

    8. XM_054366746.1 → XP_054222721.1  transmembrane protein 180 isoform X2

    9. XM_054366737.1 → XP_054222712.1  transmembrane protein 180 isoform X1

      UniProtKB/Swiss-Prot
      Q14CX5, Q6NWM8, Q6NWM9, Q6PEZ7, Q9H679

    10. XM_054366750.1 → XP_054222725.1  transmembrane protein 180 isoform X2

    11. XM_054366752.1 → XP_054222727.1  transmembrane protein 180 isoform X3

    12. XM_054366753.1 → XP_054222728.1  transmembrane protein 180 isoform X3

    13. XM_054366754.1 → XP_054222729.1  transmembrane protein 180 isoform X3

    14. XM_054366755.1 → XP_054222730.1  transmembrane protein 180 isoform X3

    15. XM_054366740.1 → XP_054222715.1  transmembrane protein 180 isoform X1

      UniProtKB/Swiss-Prot
      Q14CX5, Q6NWM8, Q6NWM9, Q6PEZ7, Q9H679

    16. XM_054366743.1 → XP_054222718.1  transmembrane protein 180 isoform X1

      UniProtKB/Swiss-Prot
      Q14CX5, Q6NWM8, Q6NWM9, Q6PEZ7, Q9H679

    17. XM_054366744.1 → XP_054222719.1  transmembrane protein 180 isoform X1

      UniProtKB/Swiss-Prot
      Q14CX5, Q6NWM8, Q6NWM9, Q6PEZ7, Q9H679

    18. XM_054366741.1 → XP_054222716.1  transmembrane protein 180 isoform X1

      UniProtKB/Swiss-Prot
      Q14CX5, Q6NWM8, Q6NWM9, Q6PEZ7, Q9H679

    19. XM_054366751.1 → XP_054222726.1  transmembrane protein 180 isoform X2

    20. XM_054366745.1 → XP_054222720.1  transmembrane protein 180 isoform X1

      UniProtKB/Swiss-Prot
      Q14CX5, Q6NWM8, Q6NWM9, Q6PEZ7, Q9H679

    21. XM_054366756.1 → XP_054222731.1  transmembrane protein 180 isoform X4

      UniProtKB/TrEMBL
      B4DKJ1

    22. XM_054366757.1 → XP_054222732.1  transmembrane protein 180 isoform X4

      UniProtKB/TrEMBL
      B4DKJ1
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14CX5.1 GenPept UniProtKB/Swiss-Prot:Q14CX5

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