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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
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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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