herc2

Ensembl ID:
ENSDARG00000073841
ZFIN ID:
ZDB-GENE-070718-6
Human Orthologue:
HERC2
Human Description:
hect domain and RLD 2 [Source:HGNC Symbol;Acc:4868]
Mouse Orthologue:
Herc2
Mouse Description:
hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 2

Alleles

There are 15 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa40738 Nonsense Mutation detected in F1 DNA During 2016
sa15868 Nonsense Available for shipment Available now
sa13507 Nonsense Available for shipment Available now
sa30874 Nonsense Mutation detected in F1 DNA During 2016
sa13593 Nonsense Available for shipment Available now
sa13641 Nonsense Available for shipment Available now
sa40739 Essential Splice Site Mutation detected in F1 DNA During 2016
sa33904 Nonsense Mutation detected in F1 DNA During 2016
sa33905 Essential Splice Site Mutation detected in F1 DNA During 2016
sa33906 Nonsense Mutation detected in F1 DNA During 2016
sa38562 Essential Splice Site Mutation detected in F1 DNA During 2016
sa20751 Essential Splice Site Available for shipment Available now
sa10421 Essential Splice Site Available for shipment Available now
sa20752 Nonsense Mutation detected in F1 DNA During 2016
sa20753 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa40738
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000110770 Nonsense 273 4832 7 93
Genomic Location (Zv9):
Chromosome 6 (position 37720324)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 37794082
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TAGTGACATCCATGGAAGTGCCAGTGGAAAAGCACCCAGTAACATTCCCT[T/A]GCAGGATCAGCACTTGGCCCTTGCCATCCTGCTGGAGCTCGCAGTGCAAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa15868
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000110770 Nonsense 667 4832 14 93
Genomic Location (Zv9):
Chromosome 6 (position 37727770)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 37801528
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TGAAGGTGTGCTGTGGGAGCCAGTTCTCCGTAGCGCTCACTAAAGATGGA[C/T]ARGTTTACACCTGGGGCAAAGGAGACAATCAACGACTTGGACATGGCACT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa13507
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
ENSDART00000110770 Nonsense 1088 4832 21 93
Genomic Location (Zv9):
Chromosome 6 (position 37736814)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 37810174
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TCACTCAGARATTCWGGGAGTTGGCTCTCTCYTGAAGAAGTATATGGCTT[T/A]GCKTTGCACACACATCGGTGATATCCTTCCTGTGGCCACCAGCATTGCCC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa30874
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
T > G
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000110770 Nonsense 1166 4832 22 93
Genomic Location (Zv9):
Chromosome 6 (position 37737471)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 37810831
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TCCATTCCTCTGCTCGCTGCTCTTCTGGAGCACTTGGACCGTTTTAACTA[T/G]CTTGCACCTGGTACAGAAAGAGATGACAATGAGGATCTTGCCTGGCCTGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa13593
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000110770 Nonsense 1331 4832 26 93
ENSDART00000110770 Nonsense 1331 4832 26 93
Genomic Location (Zv9):
Chromosome 6 (position 37740398)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 37813758
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AATGCATGTNAAAAAAAAAGTCACTTGCTYCTATACCTYCCAGAATGGCTC[C/T]AGTCATCYATTTTCTTYGGTGGACTTCAGACCAGTCAGATCCACTATAAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa13641
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000110770 Nonsense 1331 4832 26 93
ENSDART00000110770 Nonsense 1331 4832 26 93
Genomic Location (Zv9):
Chromosome 6 (position 37740398)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 37813758
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AATGCATGTNAAAAAAAAAGTCACTTGCTYCTATACCTYCCAGAATGGCTC[C/T]AGTCATCYATTTTCTTYGGTGGACTTCAGACCAGTCAGATCCACTATAAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa40739
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
T > G
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000110770 Essential Splice Site 1399 4832 26 93
Genomic Location (Zv9):
Chromosome 6 (position 37740606)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 37813966
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CTTCCTGCAGGCCATCGCTGACAACACCACCCAGGATCACACTGTGAAGG[T/G]CACAGCATTTATTTGTCTCCTCATTTAATATTATGTATAATACAGATTTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa33904
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000110770 Nonsense 1463 4832 28 93
Genomic Location (Zv9):
Chromosome 6 (position 37741232)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 37814592
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TCGCCCTCTCCCTAGTTGATCAATGTGCCTTGGGTATGGACCAGGGGAAA[C/T]AGAGGTCCCTCCCGAAATCTGTGATTGATGTGTGTCGAATGGTGTATCAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa33905
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
G > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000110770 Essential Splice Site 1595 4832 30 93
Genomic Location (Zv9):
Chromosome 6 (position 37742438)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 37815798
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TAAGCCCCGCTCCTGTTGACAAGAAGCAAACAACTGTCAAATCTGCAAAG[G/T]TTTGCCACTTTCTATTTACGTTAATTTTTTAAGTCACTGTCCTTTTAGAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa33906
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000110770 Nonsense 2185 4832 41 93
Genomic Location (Zv9):
Chromosome 6 (position 37751571)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 37824931
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TGGTTAGTTCTCCTATGCTGTTTTTTCTGTCAGGCTTTGCTTGAAGACTA[T/A]CTCCCCAATGCGGAAGCAGCAGCGGTGGGCAGTCTGATGGCTGTTTTGGC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa38562
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000110770 Essential Splice Site 2303 4832 42 93
Genomic Location (Zv9):
Chromosome 6 (position 37752254)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 37825614
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AAGCTGGAGAAACAACGCATGAAGAAATCTCTTAGTAGAGGACTTACAGG[T/C]ACAGCACATGCACAGATCCATAGAAAAACACATATTTGTTCACTTGATCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa20751
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:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000110770 Essential Splice Site 2535 4832 46 93
Genomic Location (Zv9):
Chromosome 6 (position 37757566)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 37830926
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TGAAGAGGTGCTGGAAGAGCTTGAGGAGCCTGAGCCTGCCTTTCCTGTGG[T/A]ACATACAAATACACTGATCACACAATCCAGATGTGAGGTGCTGATTCACT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa10421
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000110770 Essential Splice Site 2625 4832 48 93
Genomic Location (Zv9):
Chromosome 6 (position 37758769)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 37832129
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CAGAAAGGAGGAACYTACTGGGTCCGTTACATCCACACTGAGCTGCTGGG[T/C]AATACTCTTTMTGTTCTCTTAMACATTTTTATAGGTATTTGTTAATTGAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa20752
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000110770 Nonsense 3466 4832 66 93
Genomic Location (Zv9):
Chromosome 6 (position 37771813)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 37845173
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CCTCAGAGAGTGAGGAGAGGGTCAGTCCGCACCCCTGGATGGACAGCAAA[C/T]GAGGAGAGGTGAGGAGTTCTGCCAATTCTTGACTGTGTGTGTGTATGTAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa20753
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
ENSDART00000110770 Nonsense 4262 4832 82 93
Genomic Location (Zv9):
Chromosome 6 (position 37784148)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 37857508
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GGCAAAAAGGTCATCGCAATAGCAACTGGTTCCCTTCACTGCGTTTGCTG[C/A]ACGGAGGACGGTAGGTCATTAGTATGTTTGAATTATGCTGGCCTTTGTCA
Associated Phenotype:
Not determined

GWAS

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

  • Black vs. red hair color: A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. (View Study)
  • Eye color: Genome-wide association studies of quantitatively measured skin, hair, and eye pigmentation in four European populations. (View Study)
  • Eye color traits: Digital quantification of human eye color highlights genetic association of three new loci. (View Study)
  • Iris color: Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. (View Study)
  • Vitiligo: Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo. (View Study)

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

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