U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

SLC66A3 solute carrier family 66 member 3 [ Homo sapiens (human) ]

Gene ID: 130814, updated on 7-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
SLC66A3provided by HGNC
Official Full Name
solute carrier family 66 member 3provided by HGNC
Primary source
HGNC:HGNC:28503
See related
Ensembl:ENSG00000162976 AllianceGenome:HGNC:28503
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
PQLC3; C2orf22
Summary
Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in spleen (RPKM 9.0), gall bladder (RPKM 7.5) and 25 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
2p25.1
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (11155467..11178856)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (11187869..11211256)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (11295593..11318982)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15315 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15316 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15317 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:11245073-11245572 Neighboring gene Putative uncharacterized protein FLJ33534 Neighboring gene ribosomal protein L6 pseudogene 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:11269908-11270408 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:11270409-11270909 Neighboring gene chromosome 2 open reading frame 50 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:11292424-11292924 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11170 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11171 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:11298670-11298918 Neighboring gene Rho associated coiled-coil containing protein kinase 2 Neighboring gene Sharpr-MPRA regulatory region 13580 Neighboring gene RNA, U6 small nuclear 1081, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:11397407-11397926 Neighboring gene AIDA pseudogene 1

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Generation and analysis of 280,000 human expressed sequence tags. Hillier LD, et al. Genome Res, 1996 Sep. PMID 8889549
  2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Hillier LW, et al. Nature, 2005 Apr 7. PMID 15815621
  3. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article
  4. Quantitative mapping of RNA-mediated nuclear estrogen receptor β interactome in human breast cancer cells. Giurato G, et al. Sci Data, 2018 Mar 6. PMID 29509190, Free PMC Article
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

See all (7) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • MGC33602

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

Go to the top of the page Help
Preferred Names
solute carrier family 66 member 3
Names
PQ loop repeat containing 3
PQ-loop repeat-containing protein 3

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_001282710.2 → NP_001269639.1  solute carrier family 66 member 3 isoform b

    See identical proteins and their annotated locations for NP_001269639.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
    Source sequence(s)
    AK001091, AK301439, BQ574369, DB460796
    Consensus CDS
    CCDS62856.1
    UniProtKB/TrEMBL
    C9J4B6
    Related
    ENSP00000406148.2, ENST00000441908.6

  2. NM_001282711.2 → NP_001269640.1  solute carrier family 66 member 3 isoform c precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate exon that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (c) has a distinct C-terminus and is shorter than isoform a.
    Source sequence(s)
    AK001091, AK301439, BQ574369, CX751769, DC392668
    Consensus CDS
    CCDS62857.1
    UniProtKB/TrEMBL
    B5MC27
    Related
    ENSP00000384129.1, ENST00000402361.5

  3. NM_001282712.2 → NP_001269641.1  solute carrier family 66 member 3 isoform d precursor

    See identical proteins and their annotated locations for NP_001269641.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks three exons in the 3' coding region and uses an alternate splice site in the central region, compared to variant 1. The encoded isoform (d) has a distinct C-terminus and is shorter than isoform a.
    Source sequence(s)
    AC018463, AK001091, BQ277359, BQ574369, DC392668
    UniProtKB/Swiss-Prot
    Q8N755

  4. NM_152391.5 → NP_689604.1  solute carrier family 66 member 3 isoform a precursor

    See identical proteins and their annotated locations for NP_689604.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AK001091, BQ574369
    Consensus CDS
    CCDS1679.1
    UniProtKB/Swiss-Prot
    B2R8K1, B4DWA4, Q8N755
    Related
    ENSP00000295083.3, ENST00000295083.8

RNA

  1. NR_104231.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) contains an additional exon in the 3' region, compared to variant 1. This variant is represented as non-coding because use of the expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK001091, BI601351, BQ574369

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
    11155467..11178856
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011510315.3 → XP_011508617.1  solute carrier family 66 member 3 isoform X2

  2. XM_047443425.1 → XP_047299381.1  solute carrier family 66 member 3 isoform X1

    UniProtKB/TrEMBL
    G5E9P4
    Related
    ENSP00000406587.1, ENST00000445921.5

  3. XM_047443426.1 → XP_047299382.1  solute carrier family 66 member 3 isoform X3

    Related
    ENST00000476787.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    11187869..11211256
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054340592.1 → XP_054196567.1  solute carrier family 66 member 3 isoform X2

  2. XM_054340591.1 → XP_054196566.1  solute carrier family 66 member 3 isoform X1

    UniProtKB/TrEMBL
    G5E9P4

  3. XM_054340593.1 → XP_054196568.1  solute carrier family 66 member 3 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N755.1 GenPept UniProtKB/Swiss-Prot:Q8N755

Gene LinkOut

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

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous