DHH (desert hedgehog signaling molecule) - Rat Genome Database

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Gene: DHH (desert hedgehog signaling molecule) Homo sapiens
Analyze
Symbol: DHH
Name: desert hedgehog signaling molecule
RGD ID: 1345874
HGNC Page HGNC:2865
Description: Enables calcium ion binding activity; patched binding activity; and zinc ion binding activity. Involved in positive regulation of smoothened signaling pathway. Located in plasma membrane. Implicated in 46,XY sex reversal and 46,XY sex reversal 7.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: desert hedgehog; desert hedgehog homolog; desert hedgehog protein; GDMN; GDXYM; HHG-3; MGC35145; mutant desert hedgehog; SRXY7
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381249,086,656 - 49,094,801 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1249,086,656 - 49,094,801 (-)EnsemblGRCh38hg38GRCh38
GRCh371249,480,439 - 49,488,584 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361247,769,471 - 47,774,869 (-)NCBINCBI36Build 36hg18NCBI36
Build 341247,769,474 - 47,774,869NCBI
Celera1248,277,990 - 48,283,388 (-)NCBICelera
Cytogenetic Map12q13.12NCBI
HuRef1246,514,270 - 46,519,672 (-)NCBIHuRef
CHM1_11249,448,515 - 49,453,913 (-)NCBICHM1_1
T2T-CHM13v2.01249,048,829 - 49,056,982 (-)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

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Interactions between Hedgehog proteins and their binding partners come into view. Beachy PA, etal., Genes Dev. 2010 Sep 15;24(18):2001-12.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Frequent deregulations in the hedgehog signaling network and cross-talks with the epidermal growth factor receptor pathway involved in cancer progression and targeted therapies. Mimeault M and Batra SK, Pharmacol Rev. 2010 Sep;62(3):497-524.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
6. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
10. A novel mutation of desert hedgehog in a patient with 46,XY partial gonadal dysgenesis accompanied by minifascicular neuropathy. Umehara F, etal., Am J Hum Genet. 2000 Nov;67(5):1302-5. Epub 2000 Oct 2.
Additional References at PubMed
PMID:10640830   PMID:10773676   PMID:11472839   PMID:11990454   PMID:12477932   PMID:15356051   PMID:15489334   PMID:15839736   PMID:16390857   PMID:18788453   PMID:19074837   PMID:19561611  
PMID:20081366   PMID:20301714   PMID:20519495   PMID:21193222   PMID:21816240   PMID:21873635   PMID:22123293   PMID:22504420   PMID:22514309   PMID:23786321   PMID:24127550   PMID:24342078  
PMID:25517604   PMID:25927242   PMID:28514442   PMID:28708305   PMID:30298535   PMID:30355159   PMID:31018998   PMID:31240586   PMID:32504121   PMID:33063110   PMID:33712994   PMID:33864885  
PMID:33961781   PMID:37864517  


Genomics

Comparative Map Data
DHH
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381249,086,656 - 49,094,801 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1249,086,656 - 49,094,801 (-)EnsemblGRCh38hg38GRCh38
GRCh371249,480,439 - 49,488,584 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361247,769,471 - 47,774,869 (-)NCBINCBI36Build 36hg18NCBI36
Build 341247,769,474 - 47,774,869NCBI
Celera1248,277,990 - 48,283,388 (-)NCBICelera
Cytogenetic Map12q13.12NCBI
HuRef1246,514,270 - 46,519,672 (-)NCBIHuRef
CHM1_11249,448,515 - 49,453,913 (-)NCBICHM1_1
T2T-CHM13v2.01249,048,829 - 49,056,982 (-)NCBIT2T-CHM13v2.0
Dhh
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391598,779,496 - 98,796,443 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1598,789,033 - 98,796,421 (-)EnsemblGRCm39 Ensembl
GRCm381598,881,615 - 98,898,562 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1598,891,152 - 98,898,540 (-)EnsemblGRCm38mm10GRCm38
MGSCv371598,723,458 - 98,728,971 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361598,721,065 - 98,726,574 (-)NCBIMGSCv36mm8
Celera15101,042,606 - 101,048,119 (-)NCBICelera
Cytogenetic Map15F1NCBI
cM Map1555.05NCBI
Dhh
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87131,929,857 - 131,935,352 (-)NCBIGRCr8
mRatBN7.27130,050,910 - 130,056,406 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7130,050,910 - 130,056,406 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7131,856,301 - 131,861,803 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07134,081,862 - 134,087,365 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07133,994,372 - 133,999,875 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07140,575,288 - 140,580,783 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7140,575,288 - 140,580,783 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X115,082,778 - 115,088,273 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47137,666,984 - 137,672,479 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17137,745,431 - 137,748,567 (-)NCBI
Celera7126,535,827 - 126,541,767 (-)NCBICelera
Cytogenetic Map7q36NCBI
DHH
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21045,090,380 - 45,103,870 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11245,087,141 - 45,100,567 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01239,656,046 - 39,661,439 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11240,535,740 - 40,541,123 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1240,535,740 - 40,541,123 (+)Ensemblpanpan1.1panPan2
DHH
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1275,490,122 - 5,497,144 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl275,490,441 - 5,494,636 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2740,762,495 - 40,767,370 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0275,541,256 - 5,548,205 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl275,541,556 - 5,545,696 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1275,505,500 - 5,512,442 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0275,495,207 - 5,502,154 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02741,155,104 - 41,159,982 (-)NCBIUU_Cfam_GSD_1.0
Dhh
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494566,274,789 - 66,283,532 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365126,885,607 - 6,889,992 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365126,885,607 - 6,889,955 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DHH
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl515,114,527 - 15,119,577 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1515,114,524 - 15,119,610 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2515,473,443 - 15,478,529 (-)NCBISscrofa10.2Sscrofa10.2susScr3
DHH
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11145,330,593 - 45,336,958 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666037200,804,838 - 200,811,230 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dhh
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248163,095,849 - 3,104,228 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248163,096,137 - 3,100,882 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DHH
89 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_021044.4(DHH):c.80G>A (p.Arg27Gln) single nucleotide variant 46,XY sex reversal 7 [RCV000548622] Chr12:49094433 [GRCh38]
Chr12:49488216 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_021044.4(DHH):c.1086del (p.Leu363fs) deletion 46,XY sex reversal 7 [RCV000005315] Chr12:49089964 [GRCh38]
Chr12:49483747 [GRCh37]
Chr12:12q13.12		 pathogenic
NM_021044.4(DHH):c.860C>A (p.Ala287Glu) single nucleotide variant 46,XY sex reversal 7 [RCV000524661] Chr12:49090190 [GRCh38]
Chr12:49483973 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_021044.4(DHH):c.2T>C (p.Met1Thr) single nucleotide variant 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome [RCV000005313] Chr12:49094511 [GRCh38]
Chr12:49488294 [GRCh37]
Chr12:12q13.12		 pathogenic
NM_021044.4(DHH):c.485T>C (p.Leu162Pro) single nucleotide variant 46,XY sex reversal 7 [RCV000005314] Chr12:49091208 [GRCh38]
Chr12:49484991 [GRCh37]
Chr12:12q13.12		 pathogenic
NM_021044.4(DHH):c.1027T>C (p.Cys343Arg) single nucleotide variant 46,XY sex reversal 7 [RCV000256189] Chr12:49090023 [GRCh38]
Chr12:49483806 [GRCh37]
Chr12:12q13.12		 pathogenic|likely pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3 copy number gain See cases [RCV000207454] Chr12:31886971..50360461 [GRCh37]
Chr12:12p11.21-q13.12		 pathogenic
NM_021044.4(DHH):c.*401G>T single nucleotide variant 46,XY sex reversal 7 [RCV000284358]|not provided [RCV004693113] Chr12:49089458 [GRCh38]
Chr12:49483241 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_021044.4(DHH):c.-254G>A single nucleotide variant 46,XY sex reversal 7 [RCV000273626] Chr12:49094766 [GRCh38]
Chr12:49488549 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_021044.4(DHH):c.*87G>T single nucleotide variant 46,XY sex reversal 7 [RCV000336065]|not provided [RCV001653517] Chr12:49089772 [GRCh38]
Chr12:49483555 [GRCh37]
Chr12:12q13.12		 benign|likely benign
NM_021044.4(DHH):c.367C>T (p.Leu123=) single nucleotide variant 46,XY sex reversal 7 [RCV000277072] Chr12:49091326 [GRCh38]
Chr12:49485109 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_021044.4(DHH):c.*110G>C single nucleotide variant 46,XY sex reversal 7 [RCV000278609] Chr12:49089749 [GRCh38]
Chr12:49483532 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_021044.4(DHH):c.*219G>A single nucleotide variant 46,XY sex reversal 7 [RCV000341807]|not provided [RCV001565063] Chr12:49089640 [GRCh38]
Chr12:49483423 [GRCh37]
Chr12:12q13.12		 likely benign|uncertain significance
NM_021044.4(DHH):c.1134T>A (p.Thr378=) single nucleotide variant 46,XY sex reversal 7 [RCV000878604] Chr12:49089916 [GRCh38]
Chr12:49483699 [GRCh37]
Chr12:12q13.12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_021044.4(DHH):c.-18C>T single nucleotide variant 46,XY sex reversal 7 [RCV000368188] Chr12:49094530 [GRCh38]
Chr12:49488313 [GRCh37]
Chr12:12q13.12		 benign|likely benign
NM_021044.4(DHH):c.-256C>G single nucleotide variant 46,XY sex reversal 7 [RCV000373796] Chr12:49094768 [GRCh38]
Chr12:49488551 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_021044.4(DHH):c.587C>A (p.Ala196Glu) single nucleotide variant 46,XY sex reversal 7 [RCV000401936] Chr12:49090463 [GRCh38]
Chr12:49484246 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_021044.4(DHH):c.234G>A (p.Val78=) single nucleotide variant 46,XY sex reversal 7 [RCV000313384]|not provided [RCV003391104]|not specified [RCV001820912] Chr12:49094279 [GRCh38]
Chr12:49488062 [GRCh37]
Chr12:12q13.12		 likely benign|uncertain significance
NM_021044.4(DHH):c.543C>T (p.His181=) single nucleotide variant 46,XY sex reversal 7 [RCV001512135]|not provided [RCV001718630]|not specified [RCV001795929] Chr12:49091150 [GRCh38]
Chr12:49484933 [GRCh37]
Chr12:12q13.12		 benign|uncertain significance
NM_021044.4(DHH):c.-255T>C single nucleotide variant 46,XY sex reversal 7 [RCV000319094]|not provided [RCV001672472] Chr12:49094767 [GRCh38]
Chr12:49488550 [GRCh37]
Chr12:12q13.12		 benign|likely benign
NM_021044.4(DHH):c.*159G>T single nucleotide variant 46,XY sex reversal 7 [RCV000401111] Chr12:49089700 [GRCh38]
Chr12:49483483 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_021044.4(DHH):c.726C>T (p.Phe242=) single nucleotide variant 46,XY sex reversal 7 [RCV000365991] Chr12:49090324 [GRCh38]
Chr12:49484107 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_021044.4(DHH):c.576G>C (p.Leu192=) single nucleotide variant 46,XY DSD/46,XY CGD [RCV000307725] Chr12:49090474 [GRCh38]
Chr12:49484257 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_021044.4(DHH):c.926G>T (p.Arg309Leu) single nucleotide variant 46,XY sex reversal 7 [RCV000301984]|not provided [RCV001508336] Chr12:49090124 [GRCh38]
Chr12:49483907 [GRCh37]
Chr12:12q13.12		 uncertain significance
GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)x3 copy number gain See cases [RCV000448835] Chr12:37857750..49791459 [GRCh37]
Chr12:12q11-13.12		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NC_000012.11:g.26370251_54361538inv inversion not specified [RCV000714265] Chr12:26370251..54361538 [GRCh37]
Chr12:12p12.1-q13.13		 uncertain significance
GRCh37/hg19 12q13.12(chr12:49191810-49630201)x3 copy number gain not provided [RCV000683434] Chr12:49191810..49630201 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_021044.4(DHH):c.371G>A (p.Arg124Gln) single nucleotide variant 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome [RCV000678493] Chr12:49091322 [GRCh38]
Chr12:49485105 [GRCh37]
Chr12:12q13.12		 pathogenic
NM_021044.4(DHH):c.528C>A (p.Tyr176Ter) single nucleotide variant 46,XY sex reversal 7 [RCV000714234] Chr12:49091165 [GRCh38]
Chr12:49484948 [GRCh37]
Chr12:12q13.12		 pathogenic
NM_021044.4(DHH):c.1011del (p.Asn337fs) deletion 46,XY sex reversal 7 [RCV000714235] Chr12:49090039 [GRCh38]
Chr12:49483822 [GRCh37]
Chr12:12q13.12		 pathogenic
NM_021044.4(DHH):c.634G>A (p.Glu212Lys) single nucleotide variant 46,XY sex reversal 7 [RCV000714237] Chr12:49090416 [GRCh38]
Chr12:49484199 [GRCh37]
Chr12:12q13.12		 likely pathogenic
NM_021044.4(DHH):c.528C>G (p.Tyr176Ter) single nucleotide variant 46,XY sex reversal 7 [RCV000714236] Chr12:49091165 [GRCh38]
Chr12:49484948 [GRCh37]
Chr12:12q13.12		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NM_021044.4(DHH):c.566-227C>A single nucleotide variant not provided [RCV001707428] Chr12:49090711 [GRCh38]
Chr12:49484494 [GRCh37]
Chr12:12q13.12		 benign
NM_021044.4(DHH):c.566-187C>G single nucleotide variant not provided [RCV001565906] Chr12:49090671 [GRCh38]
Chr12:49484454 [GRCh37]
Chr12:12q13.12		 likely benign
NM_021044.4(DHH):c.119T>C (p.Leu40Pro) single nucleotide variant 46,XY sex reversal 7 [RCV003314402] Chr12:49094394 [GRCh38]
Chr12:49488177 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_021044.4(DHH):c.*427C>T single nucleotide variant 46,XY sex reversal 7 [RCV001114588] Chr12:49089432 [GRCh38]
Chr12:49483215 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_021044.4(DHH):c.-53G>A single nucleotide variant 46,XY sex reversal 7 [RCV001113329] Chr12:49094565 [GRCh38]
Chr12:49488348 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_021044.4(DHH):c.980C>A (p.Pro327Gln) single nucleotide variant 46,XY sex reversal 7 [RCV001202308] Chr12:49090070 [GRCh38]
Chr12:49483853 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_021044.4(DHH):c.656T>G (p.Leu219Arg) single nucleotide variant 46,XY sex reversal 7 [RCV001111320] Chr12:49090394 [GRCh38]
Chr12:49484177 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_021044.4(DHH):c.536G>A (p.Arg179His) single nucleotide variant 46,XY sex reversal 7 [RCV001111323] Chr12:49091157 [GRCh38]
Chr12:49484940 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_021044.4(DHH):c.566-224_566-223insATAA insertion not provided [RCV001598141] Chr12:49090707..49090708 [GRCh38]
Chr12:49484490..49484491 [GRCh37]
Chr12:12q13.12		 benign
NM_021044.4(DHH):c.566-231_566-228dup duplication not provided [RCV001616772] Chr12:49090711..49090712 [GRCh38]
Chr12:49484494..49484495 [GRCh37]
Chr12:12q13.12		 benign
NM_021044.4(DHH):c.192G>A (p.Glu64=) single nucleotide variant 46,XY sex reversal 7 [RCV000955095]|not provided [RCV004707503] Chr12:49094321 [GRCh38]
Chr12:49488104 [GRCh37]
Chr12:12q13.12		 benign
NM_021044.4(DHH):c.188C>G (p.Ala63Gly) single nucleotide variant 46,XY sex reversal 7 [RCV002546028]|DHH-related disorder [RCV003943036]|not provided [RCV004709003] Chr12:49094325 [GRCh38]
Chr12:49488108 [GRCh37]
Chr12:12q13.12		 benign|likely benign
NM_021044.4(DHH):c.228C>T (p.Asp76=) single nucleotide variant 46,XY sex reversal 7 [RCV000951671] Chr12:49094285 [GRCh38]
Chr12:49488068 [GRCh37]
Chr12:12q13.12		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_021044.4(DHH):c.132C>G (p.Leu44=) single nucleotide variant not provided [RCV000977757] Chr12:49094381 [GRCh38]
Chr12:49488164 [GRCh37]
Chr12:12q13.12		 likely benign
NM_021044.4(DHH):c.304-7C>T single nucleotide variant not provided [RCV000910710] Chr12:49091396 [GRCh38]
Chr12:49485179 [GRCh37]
Chr12:12q13.12		 likely benign
NM_021044.4(DHH):c.217C>G (p.Arg73Gly) single nucleotide variant 46,XY sex reversal 7 [RCV001113327] Chr12:49094296 [GRCh38]
Chr12:49488079 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_021044.4(DHH):c.566-227CATA[12] microsatellite not provided [RCV001657220] Chr12:49090667..49090668 [GRCh38]
Chr12:49484450..49484451 [GRCh37]
Chr12:12q13.12		 benign
NM_021044.4(DHH):c.913G>A (p.Gly305Arg) single nucleotide variant Disorder of sexual differentiation [RCV001568330] Chr12:49090137 [GRCh38]
Chr12:49483920 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_021044.4(DHH):c.566-227CATA[9] microsatellite not provided [RCV001550589] Chr12:49090668..49090675 [GRCh38]
Chr12:49484451..49484458 [GRCh37]
Chr12:12q13.12		 likely benign
NM_021044.4(DHH):c.566-227CATA[10] microsatellite not provided [RCV001675094] Chr12:49090668..49090671 [GRCh38]
Chr12:49484451..49484454 [GRCh37]
Chr12:12q13.12		 benign
NM_021044.4(DHH):c.304-201G>C single nucleotide variant not provided [RCV001639166] Chr12:49091590 [GRCh38]
Chr12:49485373 [GRCh37]
Chr12:12q13.12		 benign
NM_021044.4(DHH):c.630C>A (p.Ser210Arg) single nucleotide variant 46,XY sex reversal 7 [RCV001111321] Chr12:49090420 [GRCh38]
Chr12:49484203 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_021044.4(DHH):c.565+13G>A single nucleotide variant 46,XY sex reversal 7 [RCV001111322] Chr12:49091115 [GRCh38]
Chr12:49484898 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_021044.4(DHH):c.*154G>T single nucleotide variant 46,XY sex reversal 7 [RCV001108963] Chr12:49089705 [GRCh38]
Chr12:49483488 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_021044.4(DHH):c.135C>T (p.Tyr45=) single nucleotide variant 46,XY sex reversal 7 [RCV001113328] Chr12:49094378 [GRCh38]
Chr12:49488161 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_021044.4(DHH):c.953G>C (p.Arg318Pro) single nucleotide variant 46,XY sex reversal 7 [RCV001108965] Chr12:49090097 [GRCh38]
Chr12:49483880 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_021044.4(DHH):c.303+66C>T single nucleotide variant not provided [RCV001694305] Chr12:49094144 [GRCh38]
Chr12:49487927 [GRCh37]
Chr12:12q13.12		 benign
NM_021044.4(DHH):c.566-227CATA[13] microsatellite not provided [RCV001585609] Chr12:49090667..49090668 [GRCh38]
Chr12:49484450..49484451 [GRCh37]
Chr12:12q13.12		 likely benign
NM_021044.4(DHH):c.305G>A (p.Arg102His) single nucleotide variant 46,XY sex reversal 7 [RCV001113325]|Inborn genetic diseases [RCV002558129] Chr12:49091388 [GRCh38]
Chr12:49485171 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_021044.4(DHH):c.822T>G (p.Phe274Leu) single nucleotide variant 46,XY sex reversal 7 [RCV001219335] Chr12:49090228 [GRCh38]
Chr12:49484011 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_021044.4(DHH):c.*65G>T single nucleotide variant 46,XY sex reversal 7 [RCV001108964] Chr12:49089794 [GRCh38]
Chr12:49483577 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_021044.4(DHH):c.554C>A (p.Ser185Ter) single nucleotide variant 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome [RCV001260585] Chr12:49091139 [GRCh38]
Chr12:49484922 [GRCh37]
Chr12:12q13.12		 pathogenic
GRCh37/hg19 12q13.11-13.12(chr12:49024019-50299974)x3 copy number gain not provided [RCV001259140] Chr12:49024019..50299974 [GRCh37]
Chr12:12q13.11-13.12		 uncertain significance
NM_021044.4(DHH):c.304-572_492dup duplication 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome [RCV001260583] Chr12:49091200..49091201 [GRCh38]
Chr12:49484983..49484984 [GRCh37]
Chr12:12q13.12		 pathogenic
NM_021044.4(DHH):c.519G>T (p.Trp173Cys) single nucleotide variant 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome [RCV001260584] Chr12:49091174 [GRCh38]
Chr12:49484957 [GRCh37]
Chr12:12q13.12		 pathogenic
NM_021044.4(DHH):c.78_82dup (p.Gly28fs) microsatellite 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy [RCV001329205] Chr12:49094430..49094431 [GRCh38]
Chr12:49488213..49488214 [GRCh37]
Chr12:12q13.12		 pathogenic
GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3 copy number gain See cases [RCV001353185] Chr12:37873948..49578619 [GRCh37]
Chr12:12q11-13.12		 likely pathogenic
NM_021044.4(DHH):c.832G>C (p.Gly278Arg) single nucleotide variant not provided [RCV001507798] Chr12:49090218 [GRCh38]
Chr12:49484001 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_021044.4(DHH):c.1130C>A (p.Pro377Gln) single nucleotide variant not provided [RCV001508335] Chr12:49089920 [GRCh38]
Chr12:49483703 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_021044.4(DHH):c.303+143A>G single nucleotide variant not provided [RCV001732753] Chr12:49094067 [GRCh38]
Chr12:49487850 [GRCh37]
Chr12:12q13.12		 likely benign
NM_021044.4(DHH):c.303+142A>G single nucleotide variant not provided [RCV001733320] Chr12:49094068 [GRCh38]
Chr12:49487851 [GRCh37]
Chr12:12q13.12		 likely benign
NM_021044.4(DHH):c.565+29G>A single nucleotide variant not provided [RCV001733465] Chr12:49091099 [GRCh38]
Chr12:49484882 [GRCh37]
Chr12:12q13.12		 likely benign
NM_021044.4(DHH):c.160G>C (p.Glu54Gln) single nucleotide variant not specified [RCV001822465] Chr12:49094353 [GRCh38]
Chr12:49488136 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_021044.4(DHH):c.605G>A (p.Gly202Glu) single nucleotide variant 46,XY sex reversal 7 [RCV001965477] Chr12:49090445 [GRCh38]
Chr12:49484228 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_021044.4(DHH):c.286G>T (p.Asp96Tyr) single nucleotide variant 46,XY sex reversal 7 [RCV001911993] Chr12:49094227 [GRCh38]
Chr12:49488010 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_021044.4(DHH):c.324C>A (p.Asn108Lys) single nucleotide variant 46,XY sex reversal 7 [RCV001986064] Chr12:49091369 [GRCh38]
Chr12:49485152 [GRCh37]
Chr12:12q13.12		 uncertain significance
GRCh37/hg19 12q11-13.12(chr12:37857750-49791459) copy number gain not specified [RCV002052988] Chr12:37857750..49791459 [GRCh37]
Chr12:12q11-13.12		 pathogenic
NM_021044.4(DHH):c.799C>G (p.Leu267Val) single nucleotide variant 46,XY sex reversal 7 [RCV001890221] Chr12:49090251 [GRCh38]
Chr12:49484034 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_021044.4(DHH):c.174C>A (p.Gly58=) single nucleotide variant 46,XY sex reversal 7 [RCV002164777]|DHH-related disorder [RCV003958504] Chr12:49094339 [GRCh38]
Chr12:49488122 [GRCh37]
Chr12:12q13.12		 likely benign
NM_021044.4(DHH):c.303+10G>A single nucleotide variant 46,XY sex reversal 7 [RCV002198413] Chr12:49094200 [GRCh38]
Chr12:49487983 [GRCh37]
Chr12:12q13.12		 likely benign
NM_021044.4(DHH):c.1004T>C (p.Leu335Pro) single nucleotide variant 46,XY sex reversal 7 [RCV002249862] Chr12:49090046 [GRCh38]
Chr12:49483829 [GRCh37]
Chr12:12q13.12		 pathogenic
NM_021044.4(DHH):c.303+133del deletion not provided [RCV002286191] Chr12:49094077 [GRCh38]
Chr12:49487860 [GRCh37]
Chr12:12q13.12		 likely benign
NM_021044.4(DHH):c.434G>C (p.Arg145Pro) single nucleotide variant 46,XY sex reversal 7 [RCV002471350] Chr12:49091259 [GRCh38]
Chr12:49485042 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_021044.4(DHH):c.535C>T (p.Arg179Cys) single nucleotide variant Inborn genetic diseases [RCV002687163] Chr12:49091158 [GRCh38]
Chr12:49484941 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_021044.4(DHH):c.121G>T (p.Val41Leu) single nucleotide variant 46,XY sex reversal 7 [RCV002614964] Chr12:49094392 [GRCh38]
Chr12:49488175 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_021044.4(DHH):c.151G>A (p.Gly51Ser) single nucleotide variant 46,XY sex reversal 7 [RCV002882173] Chr12:49094362 [GRCh38]
Chr12:49488145 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_021044.4(DHH):c.1182A>G (p.Leu394=) single nucleotide variant 46,XY sex reversal 7 [RCV002593174] Chr12:49089868 [GRCh38]
Chr12:49483651 [GRCh37]
Chr12:12q13.12		 likely benign
NM_021044.4(DHH):c.681G>T (p.Ala227=) single nucleotide variant 46,XY sex reversal 7 [RCV002927578] Chr12:49090369 [GRCh38]
Chr12:49484152 [GRCh37]
Chr12:12q13.12		 likely benign
NM_021044.4(DHH):c.303+17C>T single nucleotide variant 46,XY sex reversal 7 [RCV002927513] Chr12:49094193 [GRCh38]
Chr12:49487976 [GRCh37]
Chr12:12q13.12		 likely benign
NM_021044.4(DHH):c.304-17C>T single nucleotide variant 46,XY sex reversal 7 [RCV002954190] Chr12:49091406 [GRCh38]
Chr12:49485189 [GRCh37]
Chr12:12q13.12		 likely benign
NM_021044.4(DHH):c.566-8C>G single nucleotide variant 46,XY sex reversal 7 [RCV002624220] Chr12:49090492 [GRCh38]
Chr12:49484275 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_021044.4(DHH):c.935G>A (p.Arg312His) single nucleotide variant Inborn genetic diseases [RCV002832615] Chr12:49090115 [GRCh38]
Chr12:49483898 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_021044.4(DHH):c.134A>G (p.Tyr45Cys) single nucleotide variant Inborn genetic diseases [RCV002746951] Chr12:49094379 [GRCh38]
Chr12:49488162 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_021044.4(DHH):c.340G>A (p.Val114Met) single nucleotide variant Inborn genetic diseases [RCV003199459] Chr12:49091353 [GRCh38]
Chr12:49485136 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_021044.4(DHH):c.317G>A (p.Arg106Gln) single nucleotide variant Inborn genetic diseases [RCV003185300] Chr12:49091376 [GRCh38]
Chr12:49485159 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_021044.4(DHH):c.1129C>A (p.Pro377Thr) single nucleotide variant Inborn genetic diseases [RCV003374671] Chr12:49089921 [GRCh38]
Chr12:49483704 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_021044.4(DHH):c.825dup (p.Ala276fs) duplication not provided [RCV003489351] Chr12:49090224..49090225 [GRCh38]
Chr12:49484007..49484008 [GRCh37]
Chr12:12q13.12		 likely pathogenic
NM_021044.4(DHH):c.936_944dup (p.Arg318_Glu319insValAlaArg) duplication not provided [RCV003482064] Chr12:49090105..49090106 [GRCh38]
Chr12:49483888..49483889 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_021044.4(DHH):c.247C>T (p.Pro83Ser) single nucleotide variant not provided [RCV003482065] Chr12:49094266 [GRCh38]
Chr12:49488049 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_021044.4(DHH):c.227A>G (p.Asp76Gly) single nucleotide variant not provided [RCV003482066] Chr12:49094286 [GRCh38]
Chr12:49488069 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_021044.4(DHH):c.25C>G (p.Pro9Ala) single nucleotide variant 46,XY sex reversal 7 [RCV003524912] Chr12:49094488 [GRCh38]
Chr12:49488271 [GRCh37]
Chr12:12q13.12		 benign
NM_021044.4(DHH):c.804G>A (p.Thr268=) single nucleotide variant 46,XY sex reversal 7 [RCV003525120] Chr12:49090246 [GRCh38]
Chr12:49484029 [GRCh37]
Chr12:12q13.12		 likely benign
NM_021044.4(DHH):c.324C>T (p.Asn108=) single nucleotide variant 46,XY sex reversal 7 [RCV003522370] Chr12:49091369 [GRCh38]
Chr12:49485152 [GRCh37]
Chr12:12q13.12		 likely benign
NM_021044.4(DHH):c.303+16C>G single nucleotide variant 46,XY sex reversal 7 [RCV003861839] Chr12:49094194 [GRCh38]
Chr12:49487977 [GRCh37]
Chr12:12q13.12		 benign
NM_021044.4(DHH):c.602C>A (p.Pro201Gln) single nucleotide variant 46,XY sex reversal 7 [RCV003820849] Chr12:49090448 [GRCh38]
Chr12:49484231 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_021044.4(DHH):c.304-15T>C single nucleotide variant 46,XY sex reversal 7 [RCV003637966] Chr12:49091404 [GRCh38]
Chr12:49485187 [GRCh37]
Chr12:12q13.12		 likely benign
NM_021044.4(DHH):c.1104G>C (p.Ala368=) single nucleotide variant DHH-related disorder [RCV003941789] Chr12:49089946 [GRCh38]
Chr12:49483729 [GRCh37]
Chr12:12q13.12		 likely benign
NM_021044.4(DHH):c.43C>T (p.Leu15Phe) single nucleotide variant Inborn genetic diseases [RCV004371378] Chr12:49094470 [GRCh38]
Chr12:49488253 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_021044.4(DHH):c.393G>C (p.Glu131Asp) single nucleotide variant Inborn genetic diseases [RCV004371377] Chr12:49091300 [GRCh38]
Chr12:49485083 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_021044.4(DHH):c.213C>T (p.Ser71=) single nucleotide variant DHH-related disorder [RCV003961639] Chr12:49094300 [GRCh38]
Chr12:49488083 [GRCh37]
Chr12:12q13.12		 likely benign
NM_021044.4(DHH):c.273_275dup (p.Glu91_Asn92insLys) duplication DHH-related disorder [RCV003894237] Chr12:49094237..49094238 [GRCh38]
Chr12:49488020..49488021 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_021044.4(DHH):c.566-2A>G single nucleotide variant DHH-related disorder [RCV003893731] Chr12:49090486 [GRCh38]
Chr12:49484269 [GRCh37]
Chr12:12q13.12		 likely pathogenic
NM_021044.4(DHH):c.101G>A (p.Arg34His) single nucleotide variant Inborn genetic diseases [RCV004371376] Chr12:49094412 [GRCh38]
Chr12:49488195 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_021044.4(DHH):c.821T>A (p.Phe274Tyr) single nucleotide variant Inborn genetic diseases [RCV004614101] Chr12:49090229 [GRCh38]
Chr12:49484012 [GRCh37]
Chr12:12q13.12		 uncertain significance
NC_000012.11:g.(?_49298120)_(49488295_?)dup duplication Kabuki syndrome [RCV004578405] Chr12:49298120..49488295 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_021044.4(DHH):c.304C>T (p.Arg102Cys) single nucleotide variant Inborn genetic diseases [RCV004614099] Chr12:49091389 [GRCh38]
Chr12:49485172 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_021044.4(DHH):c.106G>T (p.Ala36Ser) single nucleotide variant Inborn genetic diseases [RCV004614102] Chr12:49094407 [GRCh38]
Chr12:49488190 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_021044.4(DHH):c.509G>T (p.Gly170Val) single nucleotide variant Inborn genetic diseases [RCV004614100] Chr12:49091184 [GRCh38]
Chr12:49484967 [GRCh37]
Chr12:12q13.12		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:318
Count of miRNA genes:261
Interacting mature miRNAs:290
Transcripts:ENST00000266991
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407325812GWAS974788_Hdiet measurement QTL GWAS974788 (human)3e-11diet measurementfood intake measurement (CMO:0000772)124908716549087166Human
407226208GWAS875184_Hbody mass index QTL GWAS875184 (human)0.000001body mass indexbody mass index (BMI) (CMO:0000105)124909159049091591Human
407131437GWAS780413_Hbody mass index QTL GWAS780413 (human)0.000002body mass indexbody mass index (BMI) (CMO:0000105)124909159049091591Human

Markers in Region
Dhh  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371249,483,676 - 49,483,791UniSTSGRCh37
Build 361247,769,943 - 47,770,058RGDNCBI36
Celera1248,278,462 - 48,278,577RGD
HuRef1246,514,742 - 46,514,857UniSTS
RH47641  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371249,483,739 - 49,483,828UniSTSGRCh37
Build 361247,770,006 - 47,770,095RGDNCBI36
Celera1248,278,525 - 48,278,614RGD
Cytogenetic Map12q13.1UniSTS
HuRef1246,514,805 - 46,514,894UniSTS
GeneMap99-GB4 RH Map12218.85UniSTS


Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_021044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054372156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054372157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB010994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB018401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB048729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC011603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW182088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS126483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS464813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ607677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ607678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U59748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000649637   ⟹   ENSP00000497483
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1249,086,656 - 49,094,801 (-)Ensembl
RefSeq Acc Id: NM_021044   ⟹   NP_066382
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381249,086,656 - 49,094,801 (-)NCBI
GRCh371249,483,204 - 49,488,602 (-)ENTREZGENE
Build 361247,769,471 - 47,774,869 (-)NCBI Archive
HuRef1246,514,270 - 46,519,672 (-)ENTREZGENE
CHM1_11249,445,750 - 49,453,913 (-)NCBI
T2T-CHM13v2.01249,048,829 - 49,056,982 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017019380   ⟹   XP_016874869
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381249,086,656 - 49,092,916 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017019381   ⟹   XP_016874870
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381249,086,656 - 49,092,094 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054372156   ⟹   XP_054228131
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01249,048,829 - 49,055,097 (-)NCBI
RefSeq Acc Id: XM_054372157   ⟹   XP_054228132
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01249,048,829 - 49,054,275 (-)NCBI
RefSeq Acc Id: NP_066382   ⟸   NM_021044
- Peptide Label: preproprotein
- UniProtKB: Q15794 (UniProtKB/Swiss-Prot),   O43323 (UniProtKB/Swiss-Prot),   B2R8G3 (UniProtKB/TrEMBL),   F6KSZ4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016874869   ⟸   XM_017019380
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016874870   ⟸   XM_017019381
- Peptide Label: isoform X2
- Sequence:
Ensembl Acc Id: ENSP00000497483   ⟸   ENST00000649637
RefSeq Acc Id: XP_054228131   ⟸   XM_054372156
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054228132   ⟸   XM_054372157
- Peptide Label: isoform X2
Protein Domains
Hint

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O43323-F1-model_v2 AlphaFold O43323 1-396 view protein structure

Promoters
RGD ID:6789857
Promoter ID:HG_KWN:15542
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:NM_021044
Position:
Human AssemblyChrPosition (strand)Source
Build 361247,774,736 - 47,775,637 (-)MPROMDB
RGD ID:7223799
Promoter ID:EPDNEW_H17646
Type:initiation region
Name:DHH_1
Description:desert hedgehog
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381249,094,801 - 49,094,861EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2865 AgrOrtholog
COSMIC DHH COSMIC
Ensembl Genes ENSG00000139549 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000649637 ENTREZGENE
  ENST00000649637.2 UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.1380.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hedgehog/Intein (Hint) domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000139549 GTEx
HGNC ID HGNC:2865 ENTREZGENE
Human Proteome Map DHH Human Proteome Map
InterPro Hedgehog UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hedgehog_Hint UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hedgehog_sig/DD-Pept_Zn-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hedgehog_Signaling UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hedgehog_signalling_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hint_dom_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hint_dom_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hint_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:50846 UniProtKB/Swiss-Prot
NCBI Gene 50846 ENTREZGENE
OMIM 605423 OMIM
PANTHER DESERT HEDGEHOG PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HEDGEHOG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam HH_signal UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hint UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27326 PharmGKB
PIRSF Peptidase_C46 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS SONICHHOG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART HintC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HintN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF51294 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF55166 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2R8G3 ENTREZGENE, UniProtKB/TrEMBL
  DHH_HUMAN UniProtKB/Swiss-Prot
  F6KSZ4 ENTREZGENE, UniProtKB/TrEMBL
  F6KSZ5_HUMAN UniProtKB/TrEMBL
  O43323 ENTREZGENE
  Q15794 ENTREZGENE
UniProt Secondary Q15794 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-11-29 DHH  desert hedgehog signaling molecule  DHH  desert hedgehog  Symbol and/or name change 5135510 APPROVED
2011-07-27 DHH  desert hedgehog  DHH  desert hedgehog homolog (Drosophila)  Symbol and/or name change 5135510 APPROVED