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    MFSD9 major facilitator superfamily domain containing 9 [ Homo sapiens (human) ]

    Gene ID: 84804, updated on 17-Jun-2024

    Summary

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    Official Symbol
    MFSD9provided by HGNC
    Official Full Name
    major facilitator superfamily domain containing 9provided by HGNC
    Primary source
    HGNC:HGNC:28158
    See related
    Ensembl:ENSG00000135953 MIM:620301; AllianceGenome:HGNC:28158
    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
    Summary
    Predicted to enable transmembrane transporter activity. Predicted to be involved in transmembrane transport. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in duodenum (RPKM 4.6), colon (RPKM 4.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MFSD9 in Genome Data Viewer
    Location:
    2q12.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (102714630..102736888, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (103173312..103195568, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (103331089..103353347, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene solute carrier family 9 member A4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11832 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:103257402-103257630 Neighboring gene solute carrier family 9 member A2 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:103280688-103281887 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11833 Neighboring gene uncharacterized LOC124905954 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:103324753-103325253 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11834 Neighboring gene transmembrane protein 182 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16308 Neighboring gene long intergenic non-protein coding RNA 1796

    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
    • 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. Structural prediction of two novel human atypical SLC transporters, MFSD4A and MFSD9, and their neuroanatomical distribution in mice. Perland E, et al. PLoS One, 2017. PMID 29049335, Free PMC Article
    2. Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13). Hart AB, et al. PLoS One, 2012. PMID 22952603, Free PMC Article
    3. Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans. Del-Aguila JL, et al. Pharmacogenomics J, 2014 Feb. PMID 23400010, Free PMC Article
    4. Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. Otsuki T, et al. DNA Res, 2005. PMID 16303743
    5. Large-scale concatenation cDNA sequencing. Yu W, et al. Genome Res, 1997 Apr. PMID 9110174, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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
    Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
    EBI GWAS Catalog
    Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).
    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

    • MGC11332

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables transmembrane transporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    major facilitator superfamily domain-containing protein 9

    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_001322080.2 → NP_001309009.1  major facilitator superfamily domain-containing protein 9 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC007239, AK296768, BC009310, U79290
      UniProtKB/TrEMBL
      A8K3H4, B4DKY6
      Conserved Domains (2) summary
      cd06174
      Location:1 → 395
      MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
      pfam07690
      Location:1 → 366
      MFS_1; Major Facilitator Superfamily

    2. NM_001322081.2 → NP_001309010.1  major facilitator superfamily domain-containing protein 9 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC007239, AC007251, AK296768, BC006242, BC009310, U79290
      UniProtKB/TrEMBL
      A8K3H4, B4DKY6
      Conserved Domains (2) summary
      cd06174
      Location:1 → 395
      MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
      pfam07690
      Location:1 → 366
      MFS_1; Major Facilitator Superfamily

    3. NM_032718.5 → NP_116107.3  major facilitator superfamily domain-containing protein 9 isoform 1

      See identical proteins and their annotated locations for NP_116107.3

      Status: VALIDATED

      Source sequence(s)
      AC007239, AK296768, BC006242, BC009310, U79290
      Consensus CDS
      CCDS2063.1
      UniProtKB/Swiss-Prot
      Q4ZG89, Q53TU0, Q8NBP5, Q96GQ4, Q9BRI8
      UniProtKB/TrEMBL
      A8K3H4
      Related
      ENSP00000258436.5, ENST00000258436.10
      Conserved Domains (1) summary
      pfam07690
      Location:49 → 427
      MFS_1; Major Facilitator Superfamily

    RNA

    1. NR_136173.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC007239, AK296768, AK307178, U79290

    2. NR_136174.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC007239, AK296768, AK307178, BC009310

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      102714630..102736888 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011512005.3 → XP_011510307.1  major facilitator superfamily domain-containing protein 9 isoform X1

      See identical proteins and their annotated locations for XP_011510307.1

      UniProtKB/TrEMBL
      A8K3H4, B4DKY6
      Conserved Domains (2) summary
      cd06174
      Location:1 → 395
      MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
      pfam07690
      Location:1 → 366
      MFS_1; Major Facilitator Superfamily

    2. XM_047446045.1 → XP_047302001.1  major facilitator superfamily domain-containing protein 9 isoform X2

    3. XM_011512007.3 → XP_011510309.1  major facilitator superfamily domain-containing protein 9 isoform X3

      Conserved Domains (2) summary
      cd06174
      Location:13 → 315
      MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
      pfam07690
      Location:13 → 286
      MFS_1; Major Facilitator Superfamily

    RNA

    1. XR_923047.3 RNA Sequence

    2. XR_007083050.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      103173312..103195568 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054344228.1 → XP_054200203.1  major facilitator superfamily domain-containing protein 9 isoform X1

      UniProtKB/TrEMBL
      A8K3H4, B4DKY6

    2. XM_054344229.1 → XP_054200204.1  major facilitator superfamily domain-containing protein 9 isoform X2

    3. XM_054344230.1 → XP_054200205.1  major facilitator superfamily domain-containing protein 9 isoform X3

    RNA

    1. XR_008486561.1 RNA Sequence

    2. XR_008486562.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NBP5.2 GenPept UniProtKB/Swiss-Prot:Q8NBP5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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