HAAO (3-hydroxyanthranilate 3,4-dioxygenase) - Rat Genome Database
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Gene: HAAO (3-hydroxyanthranilate 3,4-dioxygenase) Homo sapiens
Analyze
Symbol: HAAO
Name: 3-hydroxyanthranilate 3,4-dioxygenase
RGD ID: 731775
HGNC Page HGNC
Description: Exhibits 3-hydroxyanthranilate 3,4-dioxygenase activity and ferrous iron binding activity. Involved in several processes, including pyridine-containing compound biosynthetic process; response to cadmium ion; and response to zinc ion. Localizes to cytosol. Biomarker of schizophrenia.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 3-HAO; 3-hydroxyanthranilate oxygenase; 3-hydroxyanthranilic acid dioxygenase; h3HAO; HAD; HAO; VCRL1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl242,767,089 - 42,792,593 (-)EnsemblGRCh38hg38GRCh38
GRCh38242,767,087 - 42,801,002 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37242,994,229 - 43,019,753 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36242,847,734 - 42,873,219 (-)NCBINCBI36hg18NCBI36
Build 34242,905,880 - 42,931,366NCBI
Celera242,833,485 - 42,858,995 (-)NCBI
Cytogenetic Map2p21NCBI
HuRef242,728,505 - 42,754,300 (-)NCBIHuRef
CHM1_1242,923,585 - 42,949,123 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:2967497   PMID:7514594   PMID:8889548   PMID:9291104   PMID:12007609   PMID:12477932   PMID:14704851   PMID:15489334   PMID:15815621   PMID:16189514   PMID:17213182   PMID:19240061  
PMID:19724865   PMID:20211485   PMID:20468071   PMID:21044950   PMID:21873635   PMID:21900206   PMID:23376485   PMID:23824909   PMID:25108383   PMID:25416956   PMID:28375145   PMID:28792876  
PMID:30063927   PMID:31515488   PMID:32296183  


Genomics

Comparative Map Data
HAAO
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl242,767,089 - 42,792,593 (-)EnsemblGRCh38hg38GRCh38
GRCh38242,767,087 - 42,801,002 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37242,994,229 - 43,019,753 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36242,847,734 - 42,873,219 (-)NCBINCBI36hg18NCBI36
Build 34242,905,880 - 42,931,366NCBI
Celera242,833,485 - 42,858,995 (-)NCBI
Cytogenetic Map2p21NCBI
HuRef242,728,505 - 42,754,300 (-)NCBIHuRef
CHM1_1242,923,585 - 42,949,123 (-)NCBICHM1_1
Haao
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391784,138,777 - 84,157,589 (-)NCBIGRCm39mm39
GRCm381783,831,348 - 83,848,981 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1783,831,156 - 83,847,963 (-)EnsemblGRCm38mm10GRCm38
MGSCv371784,230,694 - 84,246,130 (-)NCBIGRCm37mm9NCBIm37
MGSCv361783,739,421 - 83,756,289 (-)NCBImm8
Celera1788,186,650 - 88,204,249 (-)NCBICelera
Cytogenetic Map17E4NCBI
Haao
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.067,045,145 - 7,059,227 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl67,045,152 - 7,058,314 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.066,994,168 - 7,008,145 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.467,197,352 - 7,210,456 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.167,197,351 - 7,210,456 (-)NCBI
Celera610,553,178 - 10,565,875 (+)NCBICelera
Cytogenetic Map6q12NCBI
Haao
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544110,110,380 - 10,129,015 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544110,114,863 - 10,128,948 (-)NCBIChiLan1.0ChiLan1.0
HAAO
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12A43,704,468 - 43,729,886 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A43,704,468 - 43,729,887 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02A42,857,216 - 42,882,738 (-)NCBIMhudiblu_PPA_v0panPan3
HAAO
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl1045,368,178 - 45,379,160 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.11045,368,157 - 45,379,521 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Haao
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365088,971,516 - 8,987,235 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HAAO
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl397,580,851 - 97,595,021 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1397,580,756 - 97,595,033 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
HAAO
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11464,460,553 - 64,485,731 (+)NCBI
ChlSab1.1 Ensembl1464,460,703 - 64,485,378 (+)Ensembl
Haao
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473824,409,531 - 24,421,384 (-)NCBI

Position Markers
D2S2259  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37242,996,641 - 42,996,883UniSTSGRCh37
Build 36242,850,145 - 42,850,387RGDNCBI36
Celera242,835,897 - 42,836,125RGD
Cytogenetic Map2p21UniSTS
HuRef242,730,917 - 42,731,145UniSTS
Marshfield Genetic Map264.29RGD
Marshfield Genetic Map264.29UniSTS
Genethon Genetic Map267.4UniSTS
deCODE Assembly Map267.06UniSTS
Whitehead-YAC Contig Map2 UniSTS
D17S1192  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371740,421,284 - 40,421,472UniSTSGRCh37
Build 361737,674,810 - 37,674,998RGDNCBI36
Celera242,854,346 - 42,855,778UniSTS
Celera1737,076,168 - 37,076,356RGD
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2UniSTS
HuRef1736,186,318 - 36,186,506UniSTS
HuRef242,749,655 - 42,751,087UniSTS
HAAO_9354  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37242,994,061 - 42,994,621UniSTSGRCh37
Build 36242,847,565 - 42,848,125RGDNCBI36
Celera242,833,317 - 42,833,877RGD
HuRef242,728,337 - 42,728,897UniSTS
D2S2613  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37242,994,249 - 42,994,500UniSTSGRCh37
Build 36242,847,753 - 42,848,004RGDNCBI36
Celera242,833,505 - 42,833,756RGD
Cytogenetic Map2p21UniSTS
HuRef242,728,525 - 42,728,776UniSTS
GeneMap99-GB4 RH Map2132.98UniSTS
Whitehead-RH Map2196.0UniSTS
Whitehead-YAC Contig Map2 UniSTS
NCBI RH Map2307.9UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2342
Count of miRNA genes:846
Interacting mature miRNAs:1006
Transcripts:ENST00000294973, ENST00000402268, ENST00000402698, ENST00000404451, ENST00000406007, ENST00000406924, ENST00000431905
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1122 1428 1039 448 736 439 1893 442 663 284 770 746 11 1 629 1346 2
Low 1258 1545 671 169 1083 15 2338 1661 2944 94 613 700 159 575 1394 2 2
Below cutoff 25 12 5 4 65 8 77 70 66 20 39 79 3 48

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_012205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005264230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC098824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI602406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB850657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DT215851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z29481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000294973   ⟹   ENSP00000294973
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl242,767,089 - 42,792,583 (-)Ensembl
RefSeq Acc Id: ENST00000402268
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl242,782,787 - 42,792,567 (-)Ensembl
RefSeq Acc Id: ENST00000402698
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl242,767,120 - 42,792,574 (-)Ensembl
RefSeq Acc Id: ENST00000404451
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl242,767,667 - 42,792,531 (-)Ensembl
RefSeq Acc Id: ENST00000406007
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl242,767,089 - 42,769,893 (-)Ensembl
RefSeq Acc Id: ENST00000406924
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl242,769,887 - 42,792,593 (-)Ensembl
RefSeq Acc Id: ENST00000431905   ⟹   ENSP00000412601
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl242,769,711 - 42,792,572 (-)Ensembl
RefSeq Acc Id: NM_012205   ⟹   NP_036337
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38242,767,089 - 42,792,583 (-)NCBI
GRCh37242,994,229 - 43,019,753 (-)NCBI
Build 36242,847,734 - 42,873,219 (-)NCBI Archive
Celera242,833,485 - 42,858,995 (-)RGD
HuRef242,728,505 - 42,754,300 (-)RGD
CHM1_1242,923,585 - 42,949,123 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005264230   ⟹   XP_005264287
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38242,767,089 - 42,801,002 (-)NCBI
GRCh37242,994,229 - 43,019,753 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011532729   ⟹   XP_011531031
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38242,767,089 - 42,801,002 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011532730   ⟹   XP_011531032
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38242,767,089 - 42,801,002 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011532731   ⟹   XP_011531033
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38242,767,089 - 42,801,002 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017003717   ⟹   XP_016859206
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38242,767,087 - 42,792,546 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024452774   ⟹   XP_024308542
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38242,767,087 - 42,801,002 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024452775   ⟹   XP_024308543
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38242,767,087 - 42,792,546 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_036337   ⟸   NM_012205
- UniProtKB: P46952 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005264287   ⟸   XM_005264230
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011531033   ⟸   XM_011532731
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011531031   ⟸   XM_011532729
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011531032   ⟸   XM_011532730
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016859206   ⟸   XM_017003717
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_024308542   ⟸   XM_024452774
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024308543   ⟸   XM_024452775
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000294973   ⟸   ENST00000294973
RefSeq Acc Id: ENSP00000412601   ⟸   ENST00000431905

Promoters
RGD ID:6860182
Promoter ID:EPDNEW_H3256
Type:initiation region
Name:HAAO_1
Description:3-hydroxyanthranilate 3,4-dioxygenase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3257  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38242,792,583 - 42,792,643EPDNEW
RGD ID:6860184
Promoter ID:EPDNEW_H3257
Type:initiation region
Name:HAAO_2
Description:3-hydroxyanthranilate 3,4-dioxygenase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3256  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38242,792,731 - 42,792,791EPDNEW
RGD ID:6797550
Promoter ID:HG_KWN:32413
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000325954
Position:
Human AssemblyChrPosition (strand)Source
Build 36242,850,884 - 42,851,384 (-)MPROMDB
RGD ID:6797552
Promoter ID:HG_KWN:32414
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:ENST00000402268,   ENST00000402698,   ENST00000404451,   ENST00000405814,   ENST00000406007,   ENST00000406924,   NM_012205,   OTTHUMT00000325951,   OTTHUMT00000325953
Position:
Human AssemblyChrPosition (strand)Source
Build 36242,873,056 - 42,874,097 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 copy number gain See cases [RCV000052933] Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1
pathogenic
GRCh38/hg38 2p22.3-21(chr2:32849247-45016061)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052942]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052942]|See cases [RCV000052942] Chr2:32849247..45016061 [GRCh38]
Chr2:33074314..45243200 [GRCh37]
Chr2:32927818..45096704 [NCBI36]
Chr2:2p22.3-21
pathogenic
GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3 copy number gain See cases [RCV000052943] Chr2:40738282..57863821 [GRCh38]
Chr2:40965422..58090956 [GRCh37]
Chr2:40818926..57944460 [NCBI36]
Chr2:2p22.1-16.1
pathogenic
GRCh38/hg38 2p21(chr2:41999414-42915744)x3 copy number gain See cases [RCV000052944] Chr2:41999414..42915744 [GRCh38]
Chr2:42226554..43142884 [GRCh37]
Chr2:42080058..42996388 [NCBI36]
Chr2:2p21
pathogenic
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2
benign
GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3 copy number gain See cases [RCV000143682] Chr2:236816..45983232 [GRCh38]
Chr2:236816..46210371 [GRCh37]
Chr2:226816..46063875 [NCBI36]
Chr2:2p25.3-21
pathogenic
GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3 copy number gain See cases [RCV000454271] Chr2:27861707..60790985 [GRCh37]
Chr2:2p23.3-16.1
pathogenic
GRCh37/hg19 2p23.2-21(chr2:28069882-43543420)x3 copy number gain See cases [RCV000447397] Chr2:28069882..43543420 [GRCh37]
Chr2:2p23.2-21
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_012205.3(HAAO):c.483dup (p.Asp162Ter) AND VERTEBRAL, CARDIAC, RENAL, duplication Congenital NAD deficiency disorder [RCV000496188]|VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 [RCV000505810] Chr2:42770144 [GRCh38]
Chr2:42997283..42997284 [GRCh37]
Chr2:2p21
pathogenic
NM_012205.3(HAAO):c.558G>A (p.Trp186Ter) AND VERTEBRAL, CARDIAC, RENAL, single nucleotide variant Congenital NAD deficiency disorder [RCV000496104]|VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 [RCV000505813] Chr2:42769785 [GRCh38]
Chr2:42996925 [GRCh37]
Chr2:2p21
pathogenic
NC_000002.11:g.38121110_47669522inv inversion Lynch syndrome [RCV000494356] Chr2:38121110..47669522 [GRCh37]
Chr2:2p22.2-21
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
Single allele inversion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3
likely pathogenic
GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3 copy number gain not provided [RCV000682169] Chr2:34792916..56676541 [GRCh37]
Chr2:2p22.3-16.1
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p24.1-16.3(chr2:22665048-52850368)x3 copy number gain not provided [RCV000752875] Chr2:22665048..52850368 [GRCh37]
Chr2:2p24.1-16.3
pathogenic
GRCh37/hg19 2p21(chr2:42764825-43020914)x1 copy number loss not provided [RCV000752924] Chr2:42764825..43020914 [GRCh37]
Chr2:2p21
likely benign
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_012205.3(HAAO):c.243+1G>A AND VERTEBRAL, CARDIAC, RENAL, single nucleotide variant VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 [RCV000991362] Chr2:42783783 [GRCh38]
Chr2:43010923 [GRCh37]
Chr2:2p21
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4796 AgrOrtholog
COSMIC HAAO COSMIC
Ensembl Genes ENSG00000162882 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000294973 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000412601 UniProtKB/TrEMBL
Ensembl Transcript ENST00000294973 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000431905 UniProtKB/TrEMBL
Gene3D-CATH 2.60.120.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000162882 GTEx
HGNC ID HGNC:4796 ENTREZGENE
Human Proteome Map HAAO Human Proteome Map
InterPro 3hydroanth_dOase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3hydroanth_dOase_met UniProtKB/Swiss-Prot
  RmlC-like_jellyroll UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RmlC_Cupin_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23498 UniProtKB/Swiss-Prot
NCBI Gene 23498 ENTREZGENE
OMIM 604521 OMIM
  617660 OMIM
PANTHER PTHR15497 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam 3-HAO UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29171 PharmGKB
PIRSF 3hydroanth_dOase_animal UniProtKB/Swiss-Prot
Superfamily-SCOP SSF51182 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs anthran_nbaC UniProtKB/Swiss-Prot
UniGene Hs.368805 ENTREZGENE
UniProt 3HAO_HUMAN UniProtKB/Swiss-Prot
  C9IY88_HUMAN UniProtKB/TrEMBL
  P46952 ENTREZGENE
UniProt Secondary A6NE56 UniProtKB/Swiss-Prot
  B4DIN2 UniProtKB/Swiss-Prot
  Q53QZ7 UniProtKB/Swiss-Prot
  Q8N6N9 UniProtKB/Swiss-Prot