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

Gene ID: 84804, updated on 3-Apr-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
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Genomic context

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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
    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

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