OTP (orthopedia homeobox) - Rat Genome Database

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Gene: OTP (orthopedia homeobox) Homo sapiens
Analyze
Symbol: OTP
Name: orthopedia homeobox
RGD ID: 1345021
HGNC Page HGNC:8518
Description: Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II. Located in fibrillar center and nuclear body.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: homeobox protein orthopedia; MGC3161; orthopedia homolog; orthopedia homolog (drosophila)
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
GRCh38577,628,712 - 77,638,713 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl577,628,712 - 77,638,713 (-)EnsemblGRCh38hg38GRCh38
GRCh37576,924,537 - 76,934,538 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36576,960,293 - 76,970,278 (-)NCBINCBI36Build 36hg18NCBI36
Build 34576,960,293 - 76,970,278NCBI
Celera572,812,592 - 72,829,177 (-)NCBICelera
Cytogenetic Map5q14.1NCBI
HuRef572,131,689 - 72,141,606 (-)NCBIHuRef
CHM1_1576,358,684 - 76,368,685 (-)NCBICHM1_1
T2T-CHM13v2.0578,111,295 - 78,121,295 (-)NCBIT2T-CHM13v2.0
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

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10458915   PMID:12477932   PMID:19274049   PMID:21873635   PMID:22366991   PMID:23444222   PMID:26927888   PMID:29107289   PMID:29316326   PMID:30284410   PMID:32296183   PMID:33961781  
PMID:35559673  


Genomics

Comparative Map Data
OTP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38577,628,712 - 77,638,713 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl577,628,712 - 77,638,713 (-)EnsemblGRCh38hg38GRCh38
GRCh37576,924,537 - 76,934,538 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36576,960,293 - 76,970,278 (-)NCBINCBI36Build 36hg18NCBI36
Build 34576,960,293 - 76,970,278NCBI
Celera572,812,592 - 72,829,177 (-)NCBICelera
Cytogenetic Map5q14.1NCBI
HuRef572,131,689 - 72,141,606 (-)NCBIHuRef
CHM1_1576,358,684 - 76,368,685 (-)NCBICHM1_1
T2T-CHM13v2.0578,111,295 - 78,121,295 (-)NCBIT2T-CHM13v2.0
Otp
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391395,012,144 - 95,021,633 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1395,012,110 - 95,021,638 (+)EnsemblGRCm39 Ensembl
GRCm381394,875,636 - 94,885,125 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1394,875,602 - 94,885,130 (+)EnsemblGRCm38mm10GRCm38
MGSCv371395,645,582 - 95,653,636 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361395,976,326 - 95,984,380 (+)NCBIMGSCv36mm8
Celera1398,492,992 - 98,501,046 (+)NCBICelera
Cytogenetic Map13C3NCBI
cM Map1349.22NCBI
Otp
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8227,842,892 - 27,851,093 (+)NCBIGRCr8
mRatBN7.2226,108,158 - 26,116,359 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl226,108,163 - 26,116,359 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx233,137,187 - 33,145,388 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0231,237,421 - 31,245,622 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0226,062,387 - 26,070,588 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0224,546,393 - 24,554,953 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl224,546,536 - 24,554,683 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0243,712,386 - 43,722,342 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4225,176,599 - 25,184,585 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1225,098,409 - 25,098,690 (+)NCBI
Celera222,179,022 - 22,187,133 (+)NCBICelera
Cytogenetic Map2q12NCBI
Otp
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542523,350,449 - 23,358,189 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542523,350,449 - 23,358,189 (+)NCBIChiLan1.0ChiLan1.0
OTP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2437,663,671 - 37,674,402 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1535,817,298 - 35,828,029 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0537,667,070 - 37,677,802 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1538,196,327 - 38,206,313 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl538,196,327 - 38,206,313 (+)Ensemblpanpan1.1panPan2
OTP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1329,063,359 - 29,071,533 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl329,064,681 - 29,071,509 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha330,303,340 - 30,311,360 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0328,984,638 - 28,992,657 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl328,984,577 - 28,992,657 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1328,921,217 - 28,929,236 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0328,899,793 - 28,907,811 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0329,230,596 - 29,238,610 (+)NCBIUU_Cfam_GSD_1.0
Otp
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213185,222,332 - 185,232,174 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365495,626,799 - 5,636,556 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365495,626,799 - 5,636,556 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
OTP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl286,528,348 - 86,537,527 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1286,529,293 - 86,566,414 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2288,136,843 - 88,145,104 (-)NCBISscrofa10.2Sscrofa10.2susScr3
OTP
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1471,861,857 - 71,877,994 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl471,863,413 - 71,871,769 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604920,700,702 - 20,709,787 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Otp
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248692,089,873 - 2,098,064 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248692,089,886 - 2,098,061 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in OTP
17 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3 copy number gain See cases [RCV000051839] Chr5:74163186..110809453 [GRCh38]
Chr5:73459011..110145153 [GRCh37]
Chr5:73494767..110173052 [NCBI36]
Chr5:5q13.3-22.1		 pathogenic
GRCh38/hg38 5q13.3-14.1(chr5:77018109-78190068)x1 copy number loss See cases [RCV000053473] Chr5:77018109..78190068 [GRCh38]
Chr5:76313934..77485892 [GRCh37]
Chr5:76349690..77521648 [NCBI36]
Chr5:5q13.3-14.1		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32		 uncertain significance
GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3 copy number gain not provided [RCV001005683] Chr5:72790061..97478870 [GRCh37]
Chr5:5q13.2-15		 pathogenic
NC_000005.9:g.(?_76115008)_(78281071_?)del deletion Hermansky-Pudlak syndrome 2 [RCV003113301] Chr5:76115008..78281071 [GRCh37]
Chr5:5q13.3-14.1		 pathogenic
NM_032109.3(OTP):c.287G>A (p.Gly96Asp) single nucleotide variant Inborn genetic diseases [RCV003264602] Chr5:77636981 [GRCh38]
Chr5:76932806 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_032109.3(OTP):c.635C>T (p.Ala212Val) single nucleotide variant Inborn genetic diseases [RCV002841355] Chr5:77630607 [GRCh38]
Chr5:76926432 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_032109.3(OTP):c.97G>T (p.Val33Leu) single nucleotide variant Inborn genetic diseases [RCV002997503] Chr5:77637171 [GRCh38]
Chr5:76932996 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_032109.3(OTP):c.594C>A (p.Ser198Arg) single nucleotide variant Inborn genetic diseases [RCV002946890] Chr5:77630648 [GRCh38]
Chr5:76926473 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_032109.3(OTP):c.256C>T (p.Pro86Ser) single nucleotide variant Inborn genetic diseases [RCV002686947] Chr5:77637012 [GRCh38]
Chr5:76932837 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_032109.3(OTP):c.649G>A (p.Val217Met) single nucleotide variant Inborn genetic diseases [RCV002845620] Chr5:77630593 [GRCh38]
Chr5:76926418 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_032109.3(OTP):c.857A>G (p.Asn286Ser) single nucleotide variant Inborn genetic diseases [RCV002768572] Chr5:77630385 [GRCh38]
Chr5:76926210 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_032109.3(OTP):c.221C>A (p.Ala74Glu) single nucleotide variant Inborn genetic diseases [RCV002930224] Chr5:77637047 [GRCh38]
Chr5:76932872 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_032109.3(OTP):c.696G>A (p.Met232Ile) single nucleotide variant Inborn genetic diseases [RCV002748540] Chr5:77630546 [GRCh38]
Chr5:76926371 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_032109.3(OTP):c.52G>T (p.Ala18Ser) single nucleotide variant Inborn genetic diseases [RCV002702628] Chr5:77637216 [GRCh38]
Chr5:76933041 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_032109.3(OTP):c.237C>G (p.Asp79Glu) single nucleotide variant Inborn genetic diseases [RCV002877829] Chr5:77637031 [GRCh38]
Chr5:76932856 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_032109.3(OTP):c.293A>T (p.Gln98Leu) single nucleotide variant Inborn genetic diseases [RCV002896236] Chr5:77636975 [GRCh38]
Chr5:76932800 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_032109.3(OTP):c.137C>A (p.Ala46Glu) single nucleotide variant Inborn genetic diseases [RCV002718782] Chr5:77637131 [GRCh38]
Chr5:76932956 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_032109.3(OTP):c.104G>T (p.Gly35Val) single nucleotide variant Inborn genetic diseases [RCV003174131] Chr5:77637164 [GRCh38]
Chr5:76932989 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_032109.3(OTP):c.765C>A (p.Ser255Arg) single nucleotide variant Inborn genetic diseases [RCV003173866] Chr5:77630477 [GRCh38]
Chr5:76926302 [GRCh37]
Chr5:5q14.1		 uncertain significance
NM_032109.3(OTP):c.253G>C (p.Gly85Arg) single nucleotide variant Inborn genetic diseases [RCV003217724] Chr5:77637015 [GRCh38]
Chr5:76932840 [GRCh37]
Chr5:5q14.1		 uncertain significance
GRCh37/hg19 5q13.3-14.1(chr5:76635144-77156308)x1 copy number loss not provided [RCV003485467] Chr5:76635144..77156308 [GRCh37]
Chr5:5q13.3-14.1		 uncertain significance
NM_032109.3(OTP):c.284C>T (p.Ala95Val) single nucleotide variant not provided [RCV003436438] Chr5:77636984 [GRCh38]
Chr5:76932809 [GRCh37]
Chr5:5q14.1		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1163
Count of miRNA genes:691
Interacting mature miRNAs:806
Transcripts:ENST00000306422, ENST00000515716
Prediction methods:Miranda, Rnahybrid, Targetscan
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.

Markers in Region
RH98803  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37576,924,796 - 76,924,921UniSTSGRCh37
Build 36576,960,552 - 76,960,677RGDNCBI36
Cytogenetic Map5q13.3UniSTS
HuRef572,131,948 - 72,132,073UniSTS
GeneMap99-GB4 RH Map5368.59UniSTS
RH102344  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37576,931,949 - 76,932,092UniSTSGRCh37
Build 36576,967,705 - 76,967,848RGDNCBI36
Celera572,826,604 - 72,826,747RGD
Cytogenetic Map5q13.3UniSTS
HuRef572,139,033 - 72,139,176UniSTS
GeneMap99-GB4 RH Map5368.49UniSTS


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 adipose tissue appendage
High
Medium 8 100 3
Low 2 7 1 310 1 4 1 151 2 281 32 2
Below cutoff 869 1049 582 134 532 81 1616 700 1961 65 474 611 58 424 1134

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000306422   ⟹   ENSP00000302814
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl577,628,712 - 77,638,713 (-)Ensembl
RefSeq Acc Id: ENST00000515716
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl577,635,931 - 77,636,993 (-)Ensembl
RefSeq Acc Id: NM_032109   ⟹   NP_115485
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38577,628,712 - 77,638,713 (-)NCBI
GRCh37576,924,537 - 76,934,522 (-)RGD
Build 36576,960,293 - 76,970,278 (-)NCBI Archive
Celera572,812,592 - 72,829,177 (-)RGD
HuRef572,131,689 - 72,141,606 (-)RGD
CHM1_1576,358,684 - 76,368,685 (-)NCBI
T2T-CHM13v2.0578,111,295 - 78,121,295 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_115485 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH01800 (Get FASTA)   NCBI Sequence Viewer  
  EAW95809 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000302814
  ENSP00000302814.3
GenBank Protein Q5XKR4 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_115485   ⟸   NM_032109
- UniProtKB: Q5XKR4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000302814   ⟸   ENST00000306422

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q5XKR4-F1-model_v2 AlphaFold Q5XKR4 1-325 view protein structure

Promoters
RGD ID:6812788
Promoter ID:HG_ACW:64074
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:OTP.BAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 36576,962,231 - 76,962,802 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8518 AgrOrtholog
COSMIC OTP COSMIC
Ensembl Genes ENSG00000171540 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000306422 ENTREZGENE
  ENST00000306422.5 UniProtKB/Swiss-Prot
Gene3D-CATH Homeodomain-like UniProtKB/Swiss-Prot
GTEx ENSG00000171540 GTEx
HGNC ID HGNC:8518 ENTREZGENE
Human Proteome Map OTP Human Proteome Map
InterPro Homeobox-like_sf UniProtKB/Swiss-Prot
  Homeobox_CS UniProtKB/Swiss-Prot
  Homeobox_dom UniProtKB/Swiss-Prot
  HTH_motif UniProtKB/Swiss-Prot
  OAR_dom UniProtKB/Swiss-Prot
KEGG Report hsa:23440 UniProtKB/Swiss-Prot
NCBI Gene 23440 ENTREZGENE
OMIM 604529 OMIM
PANTHER HOMEOBOX PROTEIN ORTHOPEDIA UniProtKB/Swiss-Prot
  HOMEOBOX PROTEIN ORTHOPEDIA UniProtKB/Swiss-Prot
Pfam Homeodomain UniProtKB/Swiss-Prot
  OAR UniProtKB/Swiss-Prot
PharmGKB PA32844 PharmGKB
PRINTS HTHREPRESSR UniProtKB/Swiss-Prot
PROSITE HOMEOBOX_1 UniProtKB/Swiss-Prot
  HOMEOBOX_2 UniProtKB/Swiss-Prot
  OAR UniProtKB/Swiss-Prot
SMART HOX UniProtKB/Swiss-Prot
Superfamily-SCOP SSF46689 UniProtKB/Swiss-Prot
UniProt OTP_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE