NP_001107902.1

Ensembl ID:
ENSDARG00000063288
Description:
solute carrier family 2 (facilitated glucose transporter), member 11b [Source:RefSeq peptide;Acc:NP
Human Orthologues:
AP000350.10, SLC2A11, SLC2A5, SLC2A7, SLC2A9
Human Descriptions:
solute carrier family 2 (facilitated glucose transporter), member 11 [Source:HGNC Symbol;Acc:14239]
solute carrier family 2 (facilitated glucose transporter), member 7 [Source:HGNC Symbol;Acc:13445]
solute carrier family 2 (facilitated glucose transporter), member 9 [Source:HGNC Symbol;Acc:13446]
solute carrier family 2 (facilitated glucose/fructose transporter), member 5 [Source:HGNC Symbol;Acc
Mouse Orthologues:
Slc2a5, Slc2a7, Slc2a9
Mouse Descriptions:
solute carrier family 2 (facilitated glucose transporter), member 5 Gene [Source:MGI Symbol;Acc:MGI:
solute carrier family 2 (facilitated glucose transporter), member 7 Gene [Source:MGI Symbol;Acc:MGI:
solute carrier family 2 (facilitated glucose transporter), member 9 Gene [Source:MGI Symbol;Acc:MGI:

Alleles

There are 3 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa1577 Nonsense Available for shipment Available now
sa13882 Nonsense Available for shipment Available now
sa13746 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa1577
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000092333 Nonsense 66 504 3 12
ENSDART00000132262 None None 314 None 7

The following transcripts of ENSDARG00000063288 do not overlap with this mutation:

The following genes are also affected by this mutation:

Genomic Location:
Chromosome 5 (position 10927739)
KASP Assay ID:
554-1520.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TTCTCTCAGGCTGTGCAGAACTTTATTAATCAGACCTGGACGGAGCGCTA[C/A]AGCACTGAAATCTCCAGTGATATGTTAACCCTCCTCTGGTCCATCATCGT
Associated Phenotype:

This allele has been associated with this phenotype by genetic linkage analysis and may not be causal. See FAQs for more info.

Control; 5 dpf

Control; 5 dpf

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Mutant; 5 dpf

Mutant; 5 dpf

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Control; 5 dpf

Control; 5 dpf

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Mutant; 5 dpf

Mutant; 5 dpf

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Control on top; Mutant below; 5 dpf

Control on top; Mutant below; 5 dpf

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Control on top; Mutant below; 5 dpf

Control on top; Mutant below; 5 dpf

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Control on top; Mutant below; 5 dpf

Control on top; Mutant below; 5 dpf

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Stage Entity Quality Tag
Larval:Day 5
ZFS:0000037
iridophore
ZFA:0009199
quality
PATO:0000001
normal
PATO:0000461
Larval:Day 5
ZFS:0000037
melanocyte
ZFA:0009091
quality
PATO:0000001
normal
PATO:0000461
Larval:Day 5
ZFS:0000037
xanthophore
ZFA:0009198
absent
PATO:0000462
abnormal
PATO:0000460
Transcriptome Profiling Preview:
View complete transcriptome profile
Region 3' end position 3' end strand Adjusted p-value Log2 fold change (mutant/sibling) Closest Ensembl gene 3' end Gene name e74 Ensembl Gene ID
5:10953101-10953779 10953779 1 3.69 × 10-37 -4.0 -6 slc2a11b ENSDARG00000063288
21:14306023-14306400 14306023 -1 4.55 × 10-32 3.1 4 cyb561a3b ENSDARG00000028257
5:10963601-10963944 10963944 1 5.72 × 10-18 -4.5 1 zgc:66350 ENSDARG00000095464
12:26618001-26618916 26618916 1 2.17 × 10-15 -1.8 0 gch2 ENSDARG00000013340
11:31618101-31618426 31618426 1 2.83 × 10-08 -1.0 6 slc22a7a ENSDARG00000056028

Mutation Details

Allele Name:
sa13882
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000092333 Nonsense 128 504 4 12
ENSDART00000132262 None None 314 None 7

The following transcripts of ENSDARG00000063288 do not overlap with this mutation:

The following genes are also affected by this mutation:

Genomic Location:
Chromosome 5 (position 10928172)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TTCAACAAMACCTTTGCTCTGTTGGCTGCTTTGTTCATGGGTTTRAGTTA[T/A]CCTGCAAGCACTTTTGAGCTTTTAGTCATTGGAYGCTTCMTGACAGGAGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa13746
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000092333 Nonsense 227 504 6 12
ENSDART00000132262 Nonsense 37 314 1 7

The following transcripts of ENSDARG00000063288 do not overlap with this mutation:

Genomic Location:
Chromosome 5 (position 10935154)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GCCGTCCTGCAGCTTCTGACKCTGCCCTGGTTCCCGGAGAGYCCTCGATA[C/A]CTGCTCATCGACCGAGGGGACGACATCGCCTGCCAGAAGGGTACAAACAC
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

  • Alzheimer's disease: Genome-wide association study of Alzheimer's disease with psychotic symptoms. (View Study)
  • Biochemical measures: Genome-wide association study of biochemical traits in Korcula Island, Croatia. (View Study)
  • Metabolic traits: Human metabolic individuality in biomedical and pharmaceutical research. (View Study)
  • Renal function-related traits (urea): Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. (View Study)
  • Urate levels: Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study. (View Study)
  • Urate levels: Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. (View Study)
  • Urate levels: Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia. (View Study)
  • Urate levels: Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors. (View Study)
  • Urate levels: SLC2A9 influences uric acid concentrations with pronounced sex-specific effects. (View Study)
  • Urate levels: SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout. (View Study)
  • Uric acid levels: A genome wide association study of plasma uric acid levels in obese cases and never-overweight controls. (View Study)
  • Uric acid levels: A genome-wide association study of serum uric acid in African Americans. (View Study)
  • Uric acid levels: Genome-wide association of serum uric acid concentration: replication of sequence variants in an island population of the Adriatic coast of Croatia. (View Study)
  • Uric acid levels: Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations. (View Study)

(GWAS data comes from http://www.genome.gov/gwastudies/.)

Register

If you would like to be informed when the status of this gene changes (for example, a new allele is generated or an allele is made available for distribution) then please enter your details below:

* quick link - http://q.sanger.ac.uk/fpyhndk7