AKAP3 (A-kinase anchoring protein 3) - Rat Genome Database
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Gene: AKAP3 (A-kinase anchoring protein 3) Homo sapiens
Analyze
Symbol: AKAP3
Name: A-kinase anchoring protein 3
RGD ID: 1348905
HGNC Page HGNC
Description: Predicted to be involved in acrosome reaction. Localizes to sperm midpiece and sperm principal piece.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: A kinase (PRKA) anchor protein 3; A-kinase anchor protein 110 kDa; A-kinase anchor protein 3; A-kinase anchor protein, 110kDa; AKAP 110; AKAP-3; AKAP110; cancer/testis antigen 82; CT82; epididymis luminal protein 159; Fibrous Sheath Protein of 95 kDa; fibrous sheath protein, 95kDa; fibrousheathin 1; fibrousheathin I; fibrousheathin-1; FSP95; HEL159; PRKA3; protein kinase A anchoring protein 3; protein kinase A binding protein AKAP 110; protein kinase A-anchoring protein 3; SOB1; sperm oocyte-binding protein 1
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 Ensembl124,615,508 - 4,649,051 (-)EnsemblGRCh38hg38GRCh38
GRCh38124,615,514 - 4,649,051 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37124,724,684 - 4,758,217 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36124,594,937 - 4,624,604 (-)NCBINCBI36hg18NCBI36
Build 34124,594,937 - 4,624,604NCBI
Celera126,346,705 - 6,376,375 (-)NCBI
Cytogenetic Map12p13.32NCBI
HuRef124,581,367 - 4,614,936 (-)NCBIHuRef
CHM1_1124,724,286 - 4,757,854 (-)NCBICHM1_1
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
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:9238861   PMID:10319321   PMID:10334916   PMID:10529264   PMID:11278869   PMID:11696326   PMID:11807172   PMID:12477932   PMID:12509440   PMID:12606363   PMID:14618620   PMID:15257753  
PMID:16005946   PMID:16344560   PMID:17683036   PMID:18421703   PMID:21240291   PMID:21630459   PMID:21873635   PMID:22941507   PMID:25820252   PMID:26186194   PMID:26458542   PMID:28514442  
PMID:30683861   PMID:30745215   PMID:31254143  


Genomics

Comparative Map Data
AKAP3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl124,615,508 - 4,649,051 (-)EnsemblGRCh38hg38GRCh38
GRCh38124,615,514 - 4,649,051 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37124,724,684 - 4,758,217 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36124,594,937 - 4,624,604 (-)NCBINCBI36hg18NCBI36
Build 34124,594,937 - 4,624,604NCBI
Celera126,346,705 - 6,376,375 (-)NCBI
Cytogenetic Map12p13.32NCBI
HuRef124,581,367 - 4,614,936 (-)NCBIHuRef
CHM1_1124,724,286 - 4,757,854 (-)NCBICHM1_1
Akap3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396126,830,061 - 126,851,271 (+)NCBIGRCm39mm39
GRCm39 Ensembl6126,830,061 - 126,851,271 (+)Ensembl
GRCm386126,853,098 - 126,874,308 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6126,853,098 - 126,874,308 (+)EnsemblGRCm38mm10GRCm38
MGSCv376126,803,116 - 126,824,326 (+)NCBIGRCm37mm9NCBIm37
MGSCv366126,818,792 - 126,839,927 (+)NCBImm8
Celera6128,530,738 - 128,551,961 (+)NCBICelera
Cytogenetic Map6F3NCBI
Akap3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.24159,688,049 - 159,714,067 (+)NCBI
Rnor_6.0 Ensembl4159,403,501 - 159,425,629 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.04159,399,686 - 159,425,512 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.04232,187,481 - 232,213,270 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44163,241,422 - 163,263,433 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.14163,486,357 - 163,508,368 (+)NCBI
Celera4148,408,052 - 148,430,063 (+)NCBICelera
Cytogenetic Map4q42NCBI
Akap3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554132,411,553 - 2,433,388 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554132,411,618 - 2,432,658 (-)NCBIChiLan1.0ChiLan1.0
AKAP3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1124,655,004 - 4,687,239 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl124,655,004 - 4,677,651 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0124,733,095 - 4,766,596 (-)NCBIMhudiblu_PPA_v0panPan3
AKAP3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl2740,218,035 - 40,250,954 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.12740,217,313 - 40,255,934 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Akap3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049366064,771,158 - 4,794,666 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AKAP3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl565,656,289 - 65,842,142 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1565,788,744 - 65,816,031 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2567,995,078 - 68,020,685 (+)NCBISscrofa10.2Sscrofa10.2susScr3
AKAP3
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1114,635,962 - 4,675,993 (-)NCBI
ChlSab1.1 Ensembl114,634,442 - 4,673,571 (-)Ensembl
Akap3
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248601,684,474 - 1,701,307 (-)NCBI

Position Markers
RH92971  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37124,724,732 - 4,724,894UniSTSGRCh37
Build 36124,594,993 - 4,595,155RGDNCBI36
Celera126,346,761 - 6,346,923RGD
Cytogenetic Map12p13.3UniSTS
HuRef124,581,425 - 4,581,587UniSTS
GeneMap99-GB4 RH Map1225.03UniSTS
AKAP3_9143  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37124,724,478 - 4,725,061UniSTSGRCh37
Build 36124,594,739 - 4,595,322RGDNCBI36
Celera126,346,507 - 6,347,090RGD
HuRef124,581,171 - 4,581,754UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1183
Count of miRNA genes:600
Interacting mature miRNAs:677
Transcripts:ENST00000228850, ENST00000536414, ENST00000540967, ENST00000541484, ENST00000544636, ENST00000545990
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 1 19 1 1 1 1 1 396 2
Low 1544 1300 1303 278 960 157 2509 1033 3229 314 791 1188 132 1 425 1631 2
Below cutoff 885 1618 405 329 932 292 1841 1161 499 101 270 415 42 777 1154 3 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001278309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011520908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011520909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011520910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC005832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF087003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF093408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI004486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB083340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU794681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ891360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U85715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000228850   ⟹   ENSP00000228850
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl124,615,518 - 4,649,051 (-)Ensembl
RefSeq Acc Id: ENST00000536414   ⟹   ENSP00000439382
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl124,628,612 - 4,645,157 (-)Ensembl
RefSeq Acc Id: ENST00000540967   ⟹   ENSP00000442376
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl124,628,417 - 4,645,200 (-)Ensembl
RefSeq Acc Id: ENST00000541484
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl124,641,899 - 4,649,047 (-)Ensembl
RefSeq Acc Id: ENST00000544636
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl124,641,986 - 4,649,008 (-)Ensembl
RefSeq Acc Id: ENST00000545990   ⟹   ENSP00000440994
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl124,615,508 - 4,649,047 (-)Ensembl
RefSeq Acc Id: NM_001278309   ⟹   NP_001265238
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38124,615,518 - 4,649,051 (-)NCBI
GRCh37124,723,837 - 4,758,213 (-)NCBI
HuRef124,581,367 - 4,614,936 (-)NCBI
CHM1_1124,724,286 - 4,757,854 (-)NCBI
Sequence:
RefSeq Acc Id: NM_006422   ⟹   NP_006413
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38124,615,518 - 4,649,051 (-)NCBI
GRCh37124,723,837 - 4,758,213 (-)NCBI
Build 36124,594,937 - 4,624,604 (-)NCBI Archive
HuRef124,581,367 - 4,614,936 (-)NCBI
CHM1_1124,724,286 - 4,757,854 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011520908   ⟹   XP_011519210
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38124,615,514 - 4,649,008 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011520909   ⟹   XP_011519211
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38124,615,514 - 4,645,157 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011520910   ⟹   XP_011519212
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38124,615,514 - 4,649,046 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024448797   ⟹   XP_024304565
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38124,615,514 - 4,649,025 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_006413   ⟸   NM_006422
- Sequence:
RefSeq Acc Id: NP_001265238   ⟸   NM_001278309
- Sequence:
RefSeq Acc Id: XP_011519210   ⟸   XM_011520908
- Peptide Label: isoform X1
- UniProtKB: O75969 (UniProtKB/Swiss-Prot),   V9HWD4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011519212   ⟸   XM_011520910
- Peptide Label: isoform X1
- UniProtKB: O75969 (UniProtKB/Swiss-Prot),   V9HWD4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011519211   ⟸   XM_011520909
- Peptide Label: isoform X1
- UniProtKB: O75969 (UniProtKB/Swiss-Prot),   V9HWD4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024304565   ⟸   XM_024448797
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000228850   ⟸   ENST00000228850
RefSeq Acc Id: ENSP00000440994   ⟸   ENST00000545990
RefSeq Acc Id: ENSP00000439382   ⟸   ENST00000536414
RefSeq Acc Id: ENSP00000442376   ⟸   ENST00000540967
Protein Domains
AKAP_110   RII_binding_1


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1 copy number loss See cases [RCV000052776] Chr12:121055..28415184 [GRCh38]
Chr12:282465..28568117 [GRCh37]
Chr12:100482..28459384 [NCBI36]
Chr12:12p13.33-11.22
pathogenic
GRCh38/hg38 12p13.33-13.32(chr12:2492728-4829842)x1 copy number loss See cases [RCV000052777] Chr12:2492728..4829842 [GRCh38]
Chr12:2601894..4939008 [GRCh37]
Chr12:2472155..4809269 [NCBI36]
Chr12:12p13.33-13.32
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3 copy number gain See cases [RCV000053660] Chr12:77187..34380176 [GRCh38]
Chr12:282465..34533111 [GRCh37]
Chr12:56614..34424378 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3 copy number gain See cases [RCV000053662] Chr12:80412..25470329 [GRCh38]
Chr12:282465..25623263 [GRCh37]
Chr12:59839..25514530 [NCBI36]
Chr12:12p13.33-12.1
pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:121055-7272606)x3 copy number gain See cases [RCV000053663] Chr12:121055..7272606 [GRCh38]
Chr12:282465..7425202 [GRCh37]
Chr12:100482..7316469 [NCBI36]
Chr12:12p13.33-13.31
pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:121255-8361746)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053664]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053664]|See cases [RCV000053664] Chr12:121255..8361746 [GRCh38]
Chr12:282465..8514342 [GRCh37]
Chr12:100682..8405609 [NCBI36]
Chr12:12p13.33-13.31
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4 copy number gain See cases [RCV000053666] Chr12:212976..33926913 [GRCh38]
Chr12:322142..34079848 [GRCh37]
Chr12:192403..33971115 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
NM_006422.3(AKAP3):c.881C>T (p.Ser294Phe) single nucleotide variant Malignant melanoma [RCV000070005] Chr12:4628021 [GRCh38]
Chr12:4737187 [GRCh37]
Chr12:4607448 [NCBI36]
Chr12:12p13.32
not provided
NM_001278309.1(AKAP3):c.1555G>A (p.Asp519Asn) single nucleotide variant Malignant melanoma [RCV000062506] Chr12:4627347 [GRCh38]
Chr12:4736513 [GRCh37]
Chr12:4606774 [NCBI36]
Chr12:12p13.32
not provided
GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3 copy number gain See cases [RCV000135350] Chr12:45740..6945196 [GRCh38]
Chr12:147099..7054359 [GRCh37]
Chr12:17360..6924620 [NCBI36]
Chr12:12p13.33-13.31
pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:199896-5807366)x1 copy number loss See cases [RCV000136848] Chr12:199896..5807366 [GRCh38]
Chr12:309062..5916532 [GRCh37]
Chr12:179323..5786793 [NCBI36]
Chr12:12p13.33-13.31
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3 copy number gain See cases [RCV000136611] Chr12:121255..34603274 [GRCh38]
Chr12:282465..34756209 [GRCh37]
Chr12:100682..34647476 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3 copy number gain See cases [RCV000137694] Chr12:2871741..14987348 [GRCh38]
Chr12:2980907..15140282 [GRCh37]
Chr12:2851168..15031549 [NCBI36]
Chr12:12p13.33-12.3
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3 copy number gain See cases [RCV000139052] Chr12:121271..34603261 [GRCh38]
Chr12:282465..34756196 [GRCh37]
Chr12:100698..34647463 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4 copy number gain See cases [RCV000139787] Chr12:54427..34608071 [GRCh38]
Chr12:282465..34761006 [GRCh37]
Chr12:33854..34652273 [NCBI36]
Chr12:12p13.33-11.1
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
GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3 copy number gain See cases [RCV000141905] Chr12:1258274..20657577 [GRCh38]
Chr12:1367440..20810511 [GRCh37]
Chr12:1237701..20701778 [NCBI36]
Chr12:12p13.33-12.2
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4 copy number gain See cases [RCV000142149] Chr12:64620..34682902 [GRCh38]
Chr12:173786..34835837 [GRCh37]
Chr12:44047..34727104 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:418421-6235914)x3 copy number gain See cases [RCV000143357] Chr12:418421..6235914 [GRCh38]
Chr12:527587..6345080 [GRCh37]
Chr12:397848..6215341 [NCBI36]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4 copy number gain See cases [RCV000240164] Chr12:148034..34178799 [GRCh37]
Chr12:12p13.33-11.1
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 12p13.33-11.1(chr12:89061-34178799)x3 copy number gain See cases [RCV000240487] Chr12:89061..34178799 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NC_000012.12:g.(1_3750000)_(5250000_9000000)del deletion Hyperphosphatemic familial tumoral calcinosis 1 [RCV000758697] Chr12:3750000..5250000 [GRCh38]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)x3 copy number gain See cases [RCV000449191] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11
pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)x3 copy number gain See cases [RCV000449287] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain See cases [RCV000447551] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-6378954)x1 copy number loss See cases [RCV000447106] Chr12:173786..6378954 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-5737510)x1 copy number loss See cases [RCV000446628] Chr12:173786..5737510 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.33-12.2(chr12:173786-20026080)x3 copy number gain See cases [RCV000446050] Chr12:173786..20026080 [GRCh37]
Chr12:12p13.33-12.2
pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-8257049)x3 copy number gain See cases [RCV000446749] Chr12:173786..8257049 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150) copy number gain See cases [RCV000446017] Chr12:189578..34756150 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.32(chr12:4520736-4727528)x3 copy number gain See cases [RCV000445833] Chr12:4520736..4727528 [GRCh37]
Chr12:12p13.32
uncertain significance
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 12p13.33-13.32(chr12:3256714-4980727)x1 copy number loss See cases [RCV000511740] Chr12:3256714..4980727 [GRCh37]
Chr12:12p13.33-13.32
likely pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3 copy number gain See cases [RCV000511580] Chr12:565369..34835837 [GRCh37]
Chr12:12p13.33-11.1
likely 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 12p13.32(chr12:4118255-4748658)x3 copy number gain See cases [RCV000510730] Chr12:4118255..4748658 [GRCh37]
Chr12:12p13.32
uncertain significance
GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3 copy number gain See cases [RCV000510853] Chr12:173786..11677456 [GRCh37]
Chr12:12p13.33-13.2
pathogenic
GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3 copy number gain See cases [RCV000510961] Chr12:173786..28219229 [GRCh37]
Chr12:12p13.33-11.22
pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-5952112)x1 copy number loss not provided [RCV000683474] Chr12:173786..5952112 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-6201932)x1 copy number loss not provided [RCV000683476] Chr12:173786..6201932 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3 copy number gain not provided [RCV000683478] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.32-13.31(chr12:4305058-6066141)x1 copy number loss not provided [RCV000683465] Chr12:4305058..6066141 [GRCh37]
Chr12:12p13.32-13.31
likely pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-6039841)x1 copy number loss not provided [RCV000683475] Chr12:173786..6039841 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:191242-8122785)x3 copy number gain not provided [RCV000683477] Chr12:191242..8122785 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain not provided [RCV000683479] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3 copy number gain not provided [RCV000683480] Chr12:173786..37869107 [GRCh37]
Chr12:12p13.33-q11
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
GRCh37/hg19 12p13.33-11.21(chr12:191619-31733044)x3 copy number gain not provided [RCV000750245] Chr12:191619..31733044 [GRCh37]
Chr12:12p13.33-11.21
pathogenic
NM_001278309.2(AKAP3):c.2472G>A (p.Val824=) single nucleotide variant not provided [RCV000893247] Chr12:4615829 [GRCh38]
Chr12:4724995 [GRCh37]
Chr12:12p13.32
benign
GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420) copy number gain not provided [RCV000767817] Chr12:189216..15001420 [GRCh37]
Chr12:12p13.33-12.3
pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292) copy number gain not provided [RCV000767818] Chr12:237588..8278292 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497) copy number gain not provided [RCV000767819] Chr12:189216..8185497 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
NM_001278309.2(AKAP3):c.168C>T (p.Phe56=) single nucleotide variant not provided [RCV000960276] Chr12:4628734 [GRCh38]
Chr12:4737900 [GRCh37]
Chr12:12p13.32
benign
GRCh37/hg19 12p13.33-13.31(chr12:173786-6346092)x1 copy number loss not provided [RCV000847821] Chr12:173786..6346092 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-8393815)x3 copy number gain not provided [RCV000846343] Chr12:173786..8393815 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.32(chr12:4748656-4856696)x3 copy number gain not provided [RCV000846458] Chr12:4748656..4856696 [GRCh37]
Chr12:12p13.32
uncertain significance
GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4 copy number gain not provided [RCV001006470] Chr12:274676..37869301 [GRCh37]
Chr12:12p13.33-q11
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3 copy number gain not provided [RCV000847209] Chr12:173786..34496628 [GRCh37]
Chr12:12p13.33-11.1
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:373 AgrOrtholog
COSMIC AKAP3 COSMIC
Ensembl Genes ENSG00000111254 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000228850 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000439382 UniProtKB/TrEMBL
  ENSP00000440994 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000442376 UniProtKB/TrEMBL
Ensembl Transcript ENST00000228850 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000536414 UniProtKB/TrEMBL
  ENST00000540967 UniProtKB/TrEMBL
  ENST00000545990 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000111254 GTEx
HGNC ID HGNC:373 ENTREZGENE
Human Proteome Map AKAP3 Human Proteome Map
InterPro AKAP_110 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AKAP_110_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RII_binding_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SPHK1-interactor_AKAP_110 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10566 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 10566 ENTREZGENE
OMIM 604689 OMIM
PANTHER PTHR10226 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam AKAP_110 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RII_binding_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24667 PharmGKB
SMART AKAP_110 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt AKAP3_HUMAN UniProtKB/Swiss-Prot
  F5H2S4_HUMAN UniProtKB/TrEMBL
  F5H7P4_HUMAN UniProtKB/TrEMBL
  O75969 ENTREZGENE
  V9HWD4 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary O75945 UniProtKB/Swiss-Prot
  Q86X01 UniProtKB/Swiss-Prot
  Q9UM61 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 AKAP3  A-kinase anchoring protein 3    A kinase (PRKA) anchor protein 3  Symbol and/or name change 5135510 APPROVED
2011-08-17 AKAP3  A kinase (PRKA) anchor protein 3  AKAP3  A kinase (PRKA) anchor protein 3  Symbol and/or name change 5135510 APPROVED