ANKRD40 (ankyrin repeat domain 40) - Rat Genome Database

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Gene: ANKRD40 (ankyrin repeat domain 40) Homo sapiens
Analyze
Symbol: ANKRD40
Name: ankyrin repeat domain 40
RGD ID: 1602991
HGNC Page HGNC:28233
Description: ASSOCIATED WITH trichodontoosseous syndrome; INTERACTS WITH all-trans-retinoic acid; arsenous acid; atrazine
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: ankyrin repeat domain-containing protein 40; DKFZp451K241; MGC15396
RGD Orthologs
Mouse
Rat
Chinchilla
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
GRCh381750,693,198 - 50,707,914 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1750,693,198 - 50,707,914 (-)EnsemblGRCh38hg38GRCh38
GRCh371748,770,559 - 48,785,275 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361746,127,682 - 46,140,262 (-)NCBINCBI36Build 36hg18NCBI36
Celera1745,231,886 - 45,246,618 (-)NCBICelera
Cytogenetic Map17q21.33NCBI
HuRef1744,137,961 - 44,152,694 (-)NCBIHuRef
CHM1_11748,834,537 - 48,849,263 (-)NCBICHM1_1
T2T-CHM13v2.01751,560,394 - 51,575,123 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (ISO)
all-trans-retinoic acid  (EXP)
amitrole  (ISO)
ammonium chloride  (ISO)
arsenous acid  (EXP)
atrazine  (EXP)
azathioprine  (ISO)
benzo[a]pyrene  (ISO)
benzo[e]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
cadmium sulfate  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
clofibrate  (ISO)
clotrimazole  (ISO)
cyclophosphamide  (ISO)
danazol  (ISO)
decabromodiphenyl ether  (ISO)
diarsenic trioxide  (EXP)
dioxygen  (ISO)
doxepin  (ISO)
doxorubicin  (EXP,ISO)
endosulfan  (ISO)
ethanol  (ISO)
flavonoids  (ISO)
fluphenazine  (ISO)
folic acid  (ISO)
furan  (ISO)
haloperidol  (ISO)
hydrogen peroxide  (EXP)
methapyrilene  (EXP)
methimazole  (ISO)
nimesulide  (ISO)
omeprazole  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
PCB138  (ISO)
perfluorohexanesulfonic acid  (EXP)
perfluorononanoic acid  (EXP)
perfluorooctanoic acid  (EXP)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
rifampicin  (ISO)
sodium arsenite  (EXP)
sulfadimethoxine  (ISO)
sulindac  (ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
trichloroethene  (ISO)
triphenyl phosphate  (EXP,ISO)
triptonide  (ISO)
valproic acid  (ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

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:12477932   PMID:14702039   PMID:15489334   PMID:17207965   PMID:19322201   PMID:19913121   PMID:20628086   PMID:21653829   PMID:21942715   PMID:22658674   PMID:22863883   PMID:23443559  
PMID:25416956   PMID:25437307   PMID:25910212   PMID:26186194   PMID:28514442   PMID:29395067   PMID:29467281   PMID:29987050   PMID:30021884   PMID:31515488   PMID:32296183   PMID:33080218  
PMID:33417871   PMID:33961781   PMID:35271311   PMID:35944360   PMID:37689310  


Genomics

Comparative Map Data
ANKRD40
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381750,693,198 - 50,707,914 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1750,693,198 - 50,707,914 (-)EnsemblGRCh38hg38GRCh38
GRCh371748,770,559 - 48,785,275 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361746,127,682 - 46,140,262 (-)NCBINCBI36Build 36hg18NCBI36
Celera1745,231,886 - 45,246,618 (-)NCBICelera
Cytogenetic Map17q21.33NCBI
HuRef1744,137,961 - 44,152,694 (-)NCBIHuRef
CHM1_11748,834,537 - 48,849,263 (-)NCBICHM1_1
T2T-CHM13v2.01751,560,394 - 51,575,123 (-)NCBIT2T-CHM13v2.0
Ankrd40
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391194,218,827 - 94,232,673 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1194,218,827 - 94,232,667 (+)EnsemblGRCm39 Ensembl
GRCm381194,328,001 - 94,341,847 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1194,328,001 - 94,341,841 (+)EnsemblGRCm38mm10GRCm38
MGSCv371194,189,315 - 94,203,161 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361194,144,239 - 94,156,013 (+)NCBIMGSCv36mm8
Celera11103,946,715 - 103,960,619 (+)NCBICelera
Cytogenetic Map11DNCBI
cM Map1158.9NCBI
Ankrd40
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81079,778,966 - 79,792,212 (+)NCBIGRCr8
mRatBN7.21079,282,075 - 79,295,322 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1079,282,075 - 79,295,320 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1083,887,128 - 83,900,518 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01083,385,249 - 83,398,639 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01078,899,551 - 78,912,940 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01082,032,656 - 82,045,937 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1082,032,656 - 82,045,935 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01081,865,469 - 81,878,116 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41082,977,241 - 82,985,181 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1078,070,881 - 78,084,128 (+)NCBICelera
Cytogenetic Map10q26NCBI
Ankrd40
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545111,078,834 - 11,085,303 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495545111,078,839 - 11,085,303 (+)NCBIChiLan1.0ChiLan1.0
ANKRD40
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21966,885,141 - 66,899,618 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11771,692,142 - 71,706,628 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01744,787,502 - 44,802,232 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11749,660,790 - 49,668,423 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1749,660,790 - 49,668,423 (-)Ensemblpanpan1.1panPan2
ANKRD40
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1926,597,596 - 26,610,458 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl926,599,762 - 26,605,484 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha925,990,159 - 26,002,924 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0927,391,890 - 27,404,661 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl927,391,901 - 27,404,651 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1926,159,313 - 26,171,868 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0926,418,069 - 26,430,849 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0926,548,375 - 26,561,146 (-)NCBIUU_Cfam_GSD_1.0
Ankrd40
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560226,036,673 - 26,052,409 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493649011,022,545 - 11,039,652 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493649011,022,644 - 11,038,461 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ANKRD40
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1226,978,215 - 26,995,714 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11226,978,213 - 26,995,760 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21227,118,390 - 27,136,049 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ANKRD40
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11642,629,764 - 42,644,823 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1642,629,773 - 42,642,046 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607713,345,885 - 13,360,940 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ankrd40
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247956,559,983 - 6,571,847 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ANKRD40
13 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3		 pathogenic
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2		 pathogenic
GRCh38/hg38 17q21.32-22(chr17:49137864-52147810)x1 copy number loss See cases [RCV000053432] Chr17:49137864..52147810 [GRCh38]
Chr17:47215226..50225170 [GRCh37]
Chr17:44570225..47580169 [NCBI36]
Chr17:17q21.32-22		 pathogenic
GRCh38/hg38 17q21.33-22(chr17:49974533-56807609)x1 copy number loss See cases [RCV000053433] Chr17:49974533..56807609 [GRCh38]
Chr17:48051897..54884970 [GRCh37]
Chr17:45406896..52239969 [NCBI36]
Chr17:17q21.33-22		 pathogenic
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1		 pathogenic
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q21.32-22(chr17:46481089-51396368)x1 copy number loss not provided [RCV000513510] Chr17:46481089..51396368 [GRCh37]
Chr17:17q21.32-22		 likely pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_052855.4(ANKRD40):c.461C>T (p.Ser154Leu) single nucleotide variant not specified [RCV004291024] Chr17:50699716 [GRCh38]
Chr17:48777077 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_052855.4(ANKRD40):c.868C>A (p.Gln290Lys) single nucleotide variant not specified [RCV004125356] Chr17:50697032 [GRCh38]
Chr17:48774393 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_052855.4(ANKRD40):c.895G>A (p.Glu299Lys) single nucleotide variant not specified [RCV004170080] Chr17:50697005 [GRCh38]
Chr17:48774366 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_052855.4(ANKRD40):c.724G>A (p.Ala242Thr) single nucleotide variant not specified [RCV004187646] Chr17:50699453 [GRCh38]
Chr17:48776814 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_052855.4(ANKRD40):c.773T>C (p.Met258Thr) single nucleotide variant not specified [RCV004145556] Chr17:50699404 [GRCh38]
Chr17:48776765 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_052855.4(ANKRD40):c.689C>T (p.Ser230Phe) single nucleotide variant not specified [RCV004180139] Chr17:50699488 [GRCh38]
Chr17:48776849 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_052855.4(ANKRD40):c.4A>T (p.Asn2Tyr) single nucleotide variant not specified [RCV004198309] Chr17:50707651 [GRCh38]
Chr17:48785012 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_052855.4(ANKRD40):c.530G>A (p.Arg177Gln) single nucleotide variant not specified [RCV004169944] Chr17:50699647 [GRCh38]
Chr17:48777008 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_052855.4(ANKRD40):c.710C>T (p.Thr237Met) single nucleotide variant not specified [RCV004069392] Chr17:50699467 [GRCh38]
Chr17:48776828 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_052855.4(ANKRD40):c.32A>T (p.Gln11Leu) single nucleotide variant not specified [RCV004248191] Chr17:50707623 [GRCh38]
Chr17:48784984 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_052855.4(ANKRD40):c.614C>T (p.Pro205Leu) single nucleotide variant not specified [RCV004260114] Chr17:50699563 [GRCh38]
Chr17:48776924 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_052855.4(ANKRD40):c.307G>A (p.Asp103Asn) single nucleotide variant not specified [RCV004271461] Chr17:50699870 [GRCh38]
Chr17:48777231 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_052855.4(ANKRD40):c.649C>T (p.Arg217Cys) single nucleotide variant not specified [RCV004260201] Chr17:50699528 [GRCh38]
Chr17:48776889 [GRCh37]
Chr17:17q21.33		 uncertain significance
Single allele deletion Tricho-dento-osseous syndrome [RCV003494599] Chr17:46740736..48853218 [GRCh37]
Chr17:17q21.32-21.33		 pathogenic
NM_052855.4(ANKRD40):c.1048G>A (p.Ala350Thr) single nucleotide variant not specified [RCV004419770] Chr17:50696056 [GRCh38]
Chr17:48773417 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_052855.4(ANKRD40):c.295G>T (p.Asp99Tyr) single nucleotide variant not specified [RCV004419778] Chr17:50699882 [GRCh38]
Chr17:48777243 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_052855.4(ANKRD40):c.601G>A (p.Glu201Lys) single nucleotide variant not specified [RCV004419803] Chr17:50699576 [GRCh38]
Chr17:48776937 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_052855.4(ANKRD40):c.527C>A (p.Pro176His) single nucleotide variant not specified [RCV004419794] Chr17:50699650 [GRCh38]
Chr17:48777011 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_052855.4(ANKRD40):c.704A>G (p.Asn235Ser) single nucleotide variant not specified [RCV004649823] Chr17:50699473 [GRCh38]
Chr17:48776834 [GRCh37]
Chr17:17q21.33		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1716
Count of miRNA genes:953
Interacting mature miRNAs:1115
Transcripts:ENST00000285243, ENST00000507114, ENST00000513072
Prediction methods:Miranda, Pita, 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.

Markers in Region
GDB:434012  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map2q31.2-q33.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map5q21UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map1p21.3-p13.1UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map10p11.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map4p16UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map14q31UniSTS


Sequence


Ensembl Acc Id: ENST00000285243   ⟹   ENSP00000285243
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,693,198 - 50,707,914 (-)Ensembl
Ensembl Acc Id: ENST00000507114
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,700,285 - 50,707,655 (-)Ensembl
Ensembl Acc Id: ENST00000513072   ⟹   ENSP00000468442
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,699,577 - 50,701,098 (-)Ensembl
RefSeq Acc Id: NM_052855   ⟹   NP_443087
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,693,198 - 50,707,914 (-)NCBI
GRCh371748,770,551 - 48,785,270 (-)RGD
Build 361746,127,682 - 46,140,262 (-)NCBI Archive
Celera1745,231,886 - 45,246,618 (-)RGD
HuRef1744,137,961 - 44,152,694 (-)RGD
CHM1_11748,834,537 - 48,849,263 (-)NCBI
T2T-CHM13v2.01751,560,394 - 51,575,123 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_443087 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH12978 (Get FASTA)   NCBI Sequence Viewer  
  ABW05020 (Get FASTA)   NCBI Sequence Viewer  
  BAG36721 (Get FASTA)   NCBI Sequence Viewer  
  CAH10502 (Get FASTA)   NCBI Sequence Viewer  
  EAW94589 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000285243
  ENSP00000285243.6
  ENSP00000468442.1
GenBank Protein Q6AI12 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_443087   ⟸   NM_052855
- UniProtKB: Q96E32 (UniProtKB/Swiss-Prot),   Q6AI12 (UniProtKB/Swiss-Prot),   A8IK34 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000285243   ⟸   ENST00000285243
Ensembl Acc Id: ENSP00000468442   ⟸   ENST00000513072

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6AI12-F1-model_v2 AlphaFold Q6AI12 1-368 view protein structure

Promoters
RGD ID:6793738
Promoter ID:HG_KWN:26597
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_052855
Position:
Human AssemblyChrPosition (strand)Source
Build 361746,139,771 - 46,141,217 (-)MPROMDB
RGD ID:7235673
Promoter ID:EPDNEW_H23582
Type:initiation region
Name:ANKRD40_1
Description:ankyrin repeat domain 40
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
GRCh381750,707,891 - 50,707,951EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28233 AgrOrtholog
COSMIC ANKRD40 COSMIC
Ensembl Genes ENSG00000154945 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000285243 ENTREZGENE
  ENST00000285243.7 UniProtKB/Swiss-Prot
  ENST00000513072.1 UniProtKB/TrEMBL
Gene3D-CATH 1.25.40.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000154945 GTEx
HGNC ID HGNC:28233 ENTREZGENE
Human Proteome Map ANKRD40 Human Proteome Map
InterPro ANKRD40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt-contain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:91369 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 91369 ENTREZGENE
PANTHER ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR24192 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ank_4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142672607 PharmGKB
PROSITE ANK_REP_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANK_REPEAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ANK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48403 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8IK34 ENTREZGENE, UniProtKB/TrEMBL
  ANR40_HUMAN UniProtKB/Swiss-Prot
  K7ERW4_HUMAN UniProtKB/TrEMBL
  Q6AI12 ENTREZGENE
  Q96E32 ENTREZGENE
UniProt Secondary Q96E32 UniProtKB/Swiss-Prot