ANKRD13A (ankyrin repeat domain 13A) - Rat Genome Database

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Gene: ANKRD13A (ankyrin repeat domain 13A) Homo sapiens
Analyze
Symbol: ANKRD13A
Name: ankyrin repeat domain 13A
RGD ID: 1318431
HGNC Page HGNC
Description: Exhibits ubiquitin-dependent protein binding activity. Involved in negative regulation of protein localization to endosome and negative regulation of receptor internalization. Localizes to late endosome; perinuclear region of cytoplasm; and plasma membrane; INTERACTS WITH 2-hydroxypropanoic acid; 3-isobutyl-1-methyl-7H-xanthine; 4,4'-sulfonyldiphenol.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: ANKRD13; ankyrin repeat domain 13; ankyrin repeat domain-containing protein 13A; NY-REN-25; NY-REN-25 antigen
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 Ensembl12109,999,186 - 110,039,763 (+)EnsemblGRCh38hg38GRCh38
GRCh3812109,999,169 - 110,039,763 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3712110,437,235 - 110,477,568 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3612108,921,618 - 108,961,620 (+)NCBINCBI36hg18NCBI36
Build 3412108,899,954 - 108,939,953NCBI
Celera12110,061,469 - 110,101,471 (+)NCBI
Cytogenetic Map12q24.11NCBI
HuRef12107,452,978 - 107,493,242 (+)NCBIHuRef
CHM1_112110,405,030 - 110,445,032 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10508479   PMID:12477932   PMID:14702039   PMID:15231748   PMID:15489334   PMID:16196087   PMID:19322201   PMID:20804422   PMID:21873635   PMID:21903422   PMID:22190034   PMID:22298428  
PMID:23319000   PMID:23620728   PMID:23940030   PMID:23956138   PMID:25416956   PMID:25921289   PMID:26038114   PMID:26186194   PMID:26344197   PMID:26618866   PMID:26673895   PMID:26797118  
PMID:27173435   PMID:27578003   PMID:28190767   PMID:28514442   PMID:28675297   PMID:29513927   PMID:29987050   PMID:30833792   PMID:31073040   PMID:31699778   PMID:31985874   PMID:32296183  


Genomics

Comparative Map Data
ANKRD13A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl12109,999,186 - 110,039,763 (+)EnsemblGRCh38hg38GRCh38
GRCh3812109,999,169 - 110,039,763 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3712110,437,235 - 110,477,568 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3612108,921,618 - 108,961,620 (+)NCBINCBI36hg18NCBI36
Build 3412108,899,954 - 108,939,953NCBI
Celera12110,061,469 - 110,101,471 (+)NCBI
Cytogenetic Map12q24.11NCBI
HuRef12107,452,978 - 107,493,242 (+)NCBIHuRef
CHM1_112110,405,030 - 110,445,032 (+)NCBICHM1_1
Ankrd13a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395114,913,009 - 114,943,882 (+)NCBIGRCm39mm39
GRCm39 Ensembl5114,912,738 - 114,944,261 (+)Ensembl
GRCm385114,774,948 - 114,805,821 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5114,774,677 - 114,806,200 (+)EnsemblGRCm38mm10GRCm38
MGSCv375115,225,149 - 115,255,830 (+)NCBIGRCm37mm9NCBIm37
MGSCv365115,036,139 - 115,066,820 (+)NCBImm8
Celera5111,873,346 - 111,903,995 (+)NCBICelera
Cytogenetic Map5FNCBI
Ankrd13a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21241,798,196 - 41,828,327 (-)NCBI
Rnor_6.0 Ensembl1247,558,590 - 47,588,335 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01247,558,587 - 47,588,486 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01249,352,113 - 49,382,397 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41243,086,125 - 43,115,877 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11242,949,513 - 42,979,265 (-)NCBI
Celera1243,413,708 - 43,443,457 (-)NCBICelera
Cytogenetic Map12q16NCBI
Ankrd13a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554558,576,406 - 8,610,995 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554558,576,406 - 8,610,878 (-)NCBIChiLan1.0ChiLan1.0
ANKRD13A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.112110,970,433 - 111,009,773 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl12110,979,786 - 111,007,899 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v012107,575,427 - 107,615,706 (+)NCBIMhudiblu_PPA_v0panPan3
ANKRD13A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12617,135,500 - 17,168,003 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2617,137,297 - 17,167,932 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2618,634,213 - 18,666,708 (+)NCBI
ROS_Cfam_1.02617,479,956 - 17,512,486 (-)NCBI
UMICH_Zoey_3.12618,843,776 - 18,876,267 (+)NCBI
UNSW_CanFamBas_1.02617,469,736 - 17,502,237 (-)NCBI
UU_Cfam_GSD_1.02617,487,197 - 17,519,707 (-)NCBI
Ankrd13a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118143,858,198 - 143,894,383 (-)NCBI
SpeTri2.0NW_0049367691,581,517 - 1,617,696 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ANKRD13A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1440,954,345 - 40,990,422 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11440,954,345 - 40,995,882 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21443,479,735 - 43,506,000 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ANKRD13A
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.111105,238,471 - 105,280,712 (+)NCBI
Ankrd13a
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474710,479,421 - 10,515,492 (-)NCBI

Position Markers
SHGC-53833  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712110,465,489 - 110,465,713UniSTSGRCh37
Build 3612108,949,872 - 108,950,096RGDNCBI36
Celera12110,089,723 - 110,089,947RGD
Cytogenetic Map12q24.11UniSTS
HuRef12107,481,494 - 107,481,718UniSTS
TNG Radiation Hybrid Map1254117.0UniSTS
SGC30598  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712110,476,476 - 110,476,602UniSTSGRCh37
Build 3612108,960,859 - 108,960,985RGDNCBI36
Celera12110,100,710 - 110,100,836RGD
Cytogenetic Map12q24.11UniSTS
HuRef12107,492,481 - 107,492,607UniSTS
TNG Radiation Hybrid Map1254132.0UniSTS
GeneMap99-GB4 RH Map12427.38UniSTS
Whitehead-RH Map12526.4UniSTS
NCBI RH Map12710.3UniSTS
WI-20847  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712110,476,980 - 110,477,229UniSTSGRCh37
Build 3612108,961,363 - 108,961,612RGDNCBI36
Celera12110,101,214 - 110,101,463RGD
Cytogenetic Map12q24.11UniSTS
HuRef12107,492,985 - 107,493,234UniSTS
GeneMap99-GB4 RH Map12426.86UniSTS
Whitehead-RH Map12526.4UniSTS
NCBI RH Map12710.1UniSTS
RH44722  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712110,461,140 - 110,461,283UniSTSGRCh37
Build 3612108,945,523 - 108,945,666RGDNCBI36
Celera12110,085,374 - 110,085,517RGD
Cytogenetic Map12q24.11UniSTS
HuRef12107,476,883 - 107,477,026UniSTS
GeneMap99-GB4 RH Map12427.06UniSTS
NCBI RH Map12704.8UniSTS
SGC33766  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712110,461,223 - 110,461,373UniSTSGRCh37
Build 3612108,945,606 - 108,945,756RGDNCBI36
Celera12110,085,457 - 110,085,607RGD
Cytogenetic Map12q24.11UniSTS
HuRef12107,476,966 - 107,477,116UniSTS
GeneMap99-GB4 RH Map12426.86UniSTS
Whitehead-RH Map12526.4UniSTS
NCBI RH Map12710.4UniSTS
D5S2354  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q21UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map12q24.11UniSTS
RH36905  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map18p11.3-p11.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map3q27-q28UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map3q26.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map3q12.2-q12.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q12-q13.1UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map9q31.1UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map10q21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map10q24.1UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map10q25-q26UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map16q22.1UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2757
Count of miRNA genes:1150
Interacting mature miRNAs:1438
Transcripts:ENST00000261739, ENST00000546476, ENST00000547419, ENST00000547639, ENST00000549826, ENST00000550404, ENST00000551491, ENST00000553025, ENST00000553246, ENST00000553251
Prediction methods:Microtar, 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.


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 2373 2227 1403 354 1907 195 3517 1027 2408 383 1428 1600 170 1126 2010 5 2
Low 66 764 323 270 44 270 840 1170 1326 36 32 13 5 1 78 778 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_033121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005253980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005253981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005253982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005253984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011538937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011538938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_944812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC007546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC084876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF064604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF155103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY364251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC057817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000261739   ⟹   ENSP00000261739
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12109,999,430 - 110,039,763 (+)Ensembl
RefSeq Acc Id: ENST00000546476
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12110,023,619 - 110,029,604 (+)Ensembl
RefSeq Acc Id: ENST00000547419   ⟹   ENSP00000474745
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12110,028,558 - 110,037,673 (+)Ensembl
RefSeq Acc Id: ENST00000547639   ⟹   ENSP00000449781
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12110,018,384 - 110,030,756 (+)Ensembl
RefSeq Acc Id: ENST00000549826
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12110,028,947 - 110,036,329 (+)Ensembl
RefSeq Acc Id: ENST00000550404
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12109,999,430 - 110,022,464 (+)Ensembl
RefSeq Acc Id: ENST00000551491   ⟹   ENSP00000447110
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12110,029,551 - 110,037,652 (+)Ensembl
RefSeq Acc Id: ENST00000553025   ⟹   ENSP00000474172
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12109,999,186 - 110,030,700 (+)Ensembl
RefSeq Acc Id: ENST00000553246
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12110,036,215 - 110,038,006 (+)Ensembl
RefSeq Acc Id: ENST00000553251
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl12110,027,899 - 110,039,428 (+)Ensembl
RefSeq Acc Id: NM_033121   ⟹   NP_149112
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812109,999,430 - 110,039,763 (+)NCBI
GRCh3712110,436,974 - 110,477,237 (+)NCBI
Build 3612108,921,618 - 108,961,620 (+)NCBI Archive
Celera12110,061,469 - 110,101,471 (+)RGD
HuRef12107,452,978 - 107,493,242 (+)RGD
CHM1_112110,405,030 - 110,445,032 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005253980   ⟹   XP_005254037
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812109,999,430 - 110,039,432 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005253981   ⟹   XP_005254038
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812109,999,430 - 110,039,432 (+)NCBI
GRCh3712110,436,974 - 110,477,237 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005253982   ⟹   XP_005254039
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812109,999,430 - 110,039,432 (+)NCBI
GRCh3712110,436,974 - 110,477,237 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005253984   ⟹   XP_005254041
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812109,999,169 - 110,039,432 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011538937   ⟹   XP_011537239
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812109,999,390 - 110,039,432 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011538938   ⟹   XP_011537240
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812109,999,430 - 110,039,432 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017020157   ⟹   XP_016875646
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812109,999,430 - 110,039,432 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017020158   ⟹   XP_016875647
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812109,999,430 - 110,039,432 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017020162   ⟹   XP_016875651
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812109,999,430 - 110,039,432 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017020163   ⟹   XP_016875652
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812109,999,390 - 110,039,432 (+)NCBI
Sequence:
RefSeq Acc Id: XR_944812
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812109,999,430 - 110,033,856 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_149112   ⟸   NM_033121
- UniProtKB: Q8IZ07 (UniProtKB/Swiss-Prot),   Q3ZTS7 (UniProtKB/TrEMBL),   Q9Y5A3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005254041   ⟸   XM_005253984
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_005254037   ⟸   XM_005253980
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_005254038   ⟸   XM_005253981
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_005254039   ⟸   XM_005253982
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011537240   ⟸   XM_011538938
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_011537239   ⟸   XM_011538937
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016875652   ⟸   XM_017020163
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_016875646   ⟸   XM_017020157
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016875651   ⟸   XM_017020162
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_016875647   ⟸   XM_017020158
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: ENSP00000474745   ⟸   ENST00000547419
RefSeq Acc Id: ENSP00000449781   ⟸   ENST00000547639
RefSeq Acc Id: ENSP00000261739   ⟸   ENST00000261739
RefSeq Acc Id: ENSP00000447110   ⟸   ENST00000551491
RefSeq Acc Id: ENSP00000474172   ⟸   ENST00000553025
Protein Domains
ANK_REP_REGION   UIM

Promoters
RGD ID:6789664
Promoter ID:HG_KWN:16629
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000261738,   NM_033121,   UC009ZVL.1,   UC009ZVM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3612108,921,146 - 108,921,712 (+)MPROMDB
RGD ID:6814510
Promoter ID:HG_XEF:2077
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:NM_001094574,   NM_001126387
Position:
Human AssemblyChrPosition (strand)Source
Build 3612108,933,386 - 108,933,886 (+)MPROMDB
RGD ID:7225371
Promoter ID:EPDNEW_H18432
Type:initiation region
Name:ANKRD13A_2
Description:ankyrin repeat domain 13A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18433  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812109,999,202 - 109,999,262EPDNEW
RGD ID:7225377
Promoter ID:EPDNEW_H18433
Type:initiation region
Name:ANKRD13A_1
Description:ankyrin repeat domain 13A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18432  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812109,999,430 - 109,999,490EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1 copy number loss See cases [RCV000050807] Chr12:105234677..112194686 [GRCh38]
Chr12:105628455..112632490 [GRCh37]
Chr12:104152585..111116873 [NCBI36]
Chr12:12q23.3-24.13
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 12q23.2-24.11(chr12:103044333-111639805)x1 copy number loss See cases [RCV000445832] Chr12:103044333..111639805 [GRCh37]
Chr12:12q23.2-24.11
likely 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
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
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 12q24.11(chr12:110469128-110620661)x1 copy number loss not provided [RCV000847786] Chr12:110469128..110620661 [GRCh37]
Chr12:12q24.11
uncertain significance
GRCh37/hg19 12q23.3-24.12(chr12:106498814-112252906)x1 copy number loss not provided [RCV001259630] Chr12:106498814..112252906 [GRCh37]
Chr12:12q23.3-24.12
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21268 AgrOrtholog
COSMIC ANKRD13A COSMIC
Ensembl Genes ENSG00000076513 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000261739 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000447110 UniProtKB/TrEMBL
  ENSP00000449781 UniProtKB/TrEMBL
  ENSP00000474172 UniProtKB/TrEMBL
  ENSP00000474745 UniProtKB/TrEMBL
Ensembl Transcript ENST00000261739 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000547419 UniProtKB/TrEMBL
  ENST00000547639 UniProtKB/TrEMBL
  ENST00000551491 UniProtKB/TrEMBL
  ENST00000553025 UniProtKB/TrEMBL
Gene3D-CATH 1.25.40.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000076513 GTEx
HGNC ID HGNC:21268 ENTREZGENE
Human Proteome Map ANKRD13A Human Proteome Map
InterPro ANKRD13 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt-contain_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt-contain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UIM_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:88455 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 88455 ENTREZGENE
OMIM 615123 OMIM
PANTHER PTHR12447 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam GPCR_chapero_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134884324 PharmGKB
PROSITE ANK_REP_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANK_REPEAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UIM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ANK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UIM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48403 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt AN13A_HUMAN UniProtKB/Swiss-Prot
  F8W150_HUMAN UniProtKB/TrEMBL
  H0YIN8_HUMAN UniProtKB/TrEMBL
  Q3ZTS7 ENTREZGENE, UniProtKB/TrEMBL
  Q8IZ07 ENTREZGENE
  Q9Y5A3 ENTREZGENE, UniProtKB/TrEMBL
  S4R3D2_HUMAN UniProtKB/TrEMBL
  S4R3U2_HUMAN UniProtKB/TrEMBL
UniProt Secondary O60736 UniProtKB/Swiss-Prot