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SLC66A2 solute carrier family 66 member 2 [ Homo sapiens (human) ]

Gene ID: 80148, updated on 21-Dec-2019

Summary

Official Symbol
SLC66A2provided by HGNC
Official Full Name
solute carrier family 66 member 2provided by HGNC
Primary source
HGNC:HGNC:26188
See related
Ensembl:ENSG00000122490
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
PQLC1
Expression
Ubiquitous expression in fat (RPKM 15.1), testis (RPKM 10.4) and 25 other tissues See more
Orthologs

Genomic context

See SLC66A2 in Genome Data Viewer
Location:
18q23
Exon count:
14
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (79902420..79951665, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (77662420..77711664, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC284241 Neighboring gene uncharacterized LOC105376875 Neighboring gene CTD phosphatase subunit 1 Neighboring gene potassium voltage-gated channel modifier subfamily G member 2 Neighboring gene heat shock factor binding protein 1 like 1 Neighboring gene thioredoxin like 4A Neighboring gene ribosome binding factor A

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22378

Gene Ontology Provided by GOA

Process Evidence Code Pubs
phospholipid translocation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
retrograde transport, endosome to Golgi IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytosol IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
solute carrier family 66 member 2
Names
PQ loop repeat containing 1
PQ-loop repeat-containing protein 1

NCBI Reference Sequences (RefSeq)

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_001146343.2NP_001139815.1  solute carrier family 66 member 2 isoform 2

    See identical proteins and their annotated locations for NP_001139815.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks two exons in the coding region, which results in a frameshift and an early stop codon compared to variant 1. The encoded isoform (2) is shorter compared to isoform 1.
    Source sequence(s)
    AC114341, AK026031, AK301881
    Consensus CDS
    CCDS54192.1
    UniProtKB/Swiss-Prot
    Q8N2U9
    Related
    ENSP00000465546.1, ENST00000590381.5
    Conserved Domains (1) summary
    pfam04193
    Location:1876
    PQ-loop; PQ loop repeat
  2. NM_001146345.2NP_001139817.1  solute carrier family 66 member 2 isoform 3

    See identical proteins and their annotated locations for NP_001139817.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (3) is shorter compared to isoform 1.
    Source sequence(s)
    AC114341, AK026031, DB475520
    Consensus CDS
    CCDS54193.1
    UniProtKB/Swiss-Prot
    Q8N2U9
    Related
    ENSP00000350188.3, ENST00000357575.8
    Conserved Domains (1) summary
    pfam04193
    Location:154211
    PQ-loop; PQ loop repeat
  3. NM_025078.5NP_079354.2  solute carrier family 66 member 2 isoform 1

    See identical proteins and their annotated locations for NP_079354.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC114341, AK026031, BC030140, DB475520
    Consensus CDS
    CCDS12020.1
    UniProtKB/Swiss-Prot
    Q8N2U9
    Related
    ENSP00000380880.2, ENST00000397778.7
    Conserved Domains (1) summary
    pfam04193
    Location:172229
    PQ-loop; PQ loop repeat

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

    Range
    79902420..79951665 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005266770.2XP_005266827.1  solute carrier family 66 member 2 isoform X10

    Related
    ENSP00000468427.1, ENST00000593030.6
    Conserved Domains (1) summary
    pfam04193
    Location:1876
    PQ-loop; PQ loop repeat
  2. XM_017026004.1XP_016881493.1  solute carrier family 66 member 2 isoform X8

  3. XM_017025998.1XP_016881487.1  solute carrier family 66 member 2 isoform X2

    Conserved Domains (1) summary
    pfam04193
    Location:179236
    PQ-loop; PQ loop repeat
  4. XM_017026003.1XP_016881492.1  solute carrier family 66 member 2 isoform X7

  5. XM_017025997.1XP_016881486.1  solute carrier family 66 member 2 isoform X1

    Conserved Domains (1) summary
    pfam04193
    Location:197254
    PQ-loop; PQ loop repeat
  6. XM_024451267.1XP_024307035.1  solute carrier family 66 member 2 isoform X6

    Conserved Domains (1) summary
    pfam04193
    Location:89146
    PQ-loop; PQ loop repeat
  7. XM_011526188.1XP_011524490.1  solute carrier family 66 member 2 isoform X9

    See identical proteins and their annotated locations for XP_011524490.1

    Conserved Domains (1) summary
    pfam04193
    Location:54111
    PQ-loop; PQ loop repeat
  8. XM_017026001.2XP_016881490.1  solute carrier family 66 member 2 isoform X4

  9. XM_017026005.1XP_016881494.1  solute carrier family 66 member 2 isoform X9

    Conserved Domains (1) summary
    pfam04193
    Location:54111
    PQ-loop; PQ loop repeat
  10. XM_017026000.1XP_016881489.1  solute carrier family 66 member 2 isoform X3

  11. XM_017026002.2XP_016881491.1  solute carrier family 66 member 2 isoform X5

RNA

  1. XR_001753282.1 RNA Sequence

  2. XR_002958186.1 RNA Sequence

  3. XR_002958185.1 RNA Sequence

  4. XR_001753279.1 RNA Sequence

  5. XR_001753281.1 RNA Sequence

  6. XR_001753280.1 RNA Sequence

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