INKA2 (inka box actin regulator 2) - Rat Genome Database

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Gene: INKA2 (inka box actin regulator 2) Homo sapiens
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Symbol: INKA2
Name: inka box actin regulator 2
RGD ID: 1603392
HGNC Page HGNC:28045
Description: Enables protein kinase binding activity. Located in nucleolus and nucleoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C1orf183; FAM212B; family with sequence similarity 212 member B; family with sequence similarity 212, member B; FLJ31105; HInca-r; hypothetical protein LOC55924; inca-r; induced in neural crest by AP2-alpha protein-related homolog; PAK4-inhibitor INKA2; uncharacterized protein C1orf183
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
GRCh381111,722,064 - 111,755,797 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1111,680,630 - 111,755,824 (-)EnsemblGRCh38hg38GRCh38
GRCh371112,264,686 - 112,298,419 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361112,069,893 - 112,099,942 (-)NCBINCBI36Build 36hg18NCBI36
Celera1110,511,297 - 110,545,039 (-)NCBICelera
Cytogenetic Map1p13.2NCBI
HuRef1110,136,065 - 110,169,809 (-)NCBIHuRef
CHM1_11112,379,672 - 112,413,403 (-)NCBICHM1_1
T2T-CHM13v2.01111,736,962 - 111,770,699 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:16344560   PMID:17207965   PMID:19047128   PMID:19851984   PMID:21832049   PMID:21873635   PMID:22087225   PMID:22658674   PMID:26186194   PMID:26292052  
PMID:26607847   PMID:27503909   PMID:28514442   PMID:28611215   PMID:31081062   PMID:32393512   PMID:33188281   PMID:33961781   PMID:34048709  


Genomics

Comparative Map Data
INKA2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381111,722,064 - 111,755,797 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1111,680,630 - 111,755,824 (-)EnsemblGRCh38hg38GRCh38
GRCh371112,264,686 - 112,298,419 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361112,069,893 - 112,099,942 (-)NCBINCBI36Build 36hg18NCBI36
Celera1110,511,297 - 110,545,039 (-)NCBICelera
Cytogenetic Map1p13.2NCBI
HuRef1110,136,065 - 110,169,809 (-)NCBIHuRef
CHM1_11112,379,672 - 112,413,403 (-)NCBICHM1_1
T2T-CHM13v2.01111,736,962 - 111,770,699 (-)NCBIT2T-CHM13v2.0
Inka2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393105,611,915 - 105,628,158 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl3105,611,915 - 105,628,158 (+)EnsemblGRCm39 Ensembl
GRCm383105,704,599 - 105,720,842 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3105,704,599 - 105,720,842 (+)EnsemblGRCm38mm10GRCm38
MGSCv373105,507,517 - 105,523,760 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv363105,832,733 - 105,847,777 (+)NCBIMGSCv36mm8
Celera3107,893,483 - 107,909,796 (+)NCBICelera
Cytogenetic Map3F2.2NCBI
cM Map346.44NCBI
Inka2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82195,873,617 - 195,888,983 (+)NCBIGRCr8
mRatBN7.22193,185,275 - 193,200,643 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2193,185,275 - 193,200,642 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2200,779,694 - 200,795,072 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02198,672,057 - 198,687,421 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02193,489,015 - 193,504,373 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02208,170,652 - 208,187,088 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2208,170,652 - 208,185,965 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02227,591,605 - 227,606,919 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42200,956,495 - 200,972,339 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12200,919,399 - 200,932,795 (+)NCBI
Celera2185,647,409 - 185,662,872 (+)NCBICelera
Cytogenetic Map2q34NCBI
Inka2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543515,179,558 - 15,195,277 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495543515,179,883 - 15,195,457 (-)NCBIChiLan1.0ChiLan1.0
INKA2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21115,286,637 - 115,303,534 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11114,434,823 - 114,450,884 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01114,389,334 - 114,402,277 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11125,946,399 - 125,963,744 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1125,929,817 - 125,963,744 (+)Ensemblpanpan1.1panPan2
INKA2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Dog10K_Boxer_Tasha1763,216,242 - 63,230,988 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01764,875,866 - 64,890,579 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1764,875,905 - 64,890,454 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11763,608,663 - 63,623,394 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01763,667,112 - 63,680,261 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01764,465,553 - 64,480,305 (+)NCBIUU_Cfam_GSD_1.0
Inka2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505817,077,166 - 17,107,680 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936690369,946 - 386,130 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936690370,051 - 386,094 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
INKA2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4108,650,661 - 108,667,143 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14108,650,666 - 108,663,756 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24118,798,403 - 118,810,889 (+)NCBISscrofa10.2Sscrofa10.2susScr3
INKA2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12021,869,304 - 21,887,246 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2021,869,925 - 21,882,403 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603836,592,395 - 36,609,778 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Inka2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247727,434,440 - 7,450,133 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247727,434,816 - 7,451,040 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in INKA2
36 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3 copy number gain See cases [RCV000051827] Chr1:109756630..118650204 [GRCh38]
Chr1:110299252..119192827 [GRCh37]
Chr1:110100775..118994350 [NCBI36]
Chr1:1p13.3-12		 pathogenic
NM_019099.4(FAM212B):c.454C>T (p.Arg152Ter) single nucleotide variant Malignant melanoma [RCV000064019] Chr1:111727408 [GRCh38]
Chr1:112270030 [GRCh37]
Chr1:112071553 [NCBI36]
Chr1:1p13.2		 not provided
GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3 copy number gain See cases [RCV000142953] Chr1:104325484..119977655 [GRCh38]
Chr1:104868106..120471049 [GRCh37]
Chr1:104669629..120321801 [NCBI36]
Chr1:1p21.1-12		 pathogenic
GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1 copy number loss See cases [RCV000142760] Chr1:105468292..112190626 [GRCh38]
Chr1:106010914..112733248 [GRCh37]
Chr1:105812437..112534771 [NCBI36]
Chr1:1p21.1-13.2		 pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12		 likely benign
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_019099.5(INKA2):c.604C>T (p.Arg202Cys) single nucleotide variant not specified [RCV004330949] Chr1:111727258 [GRCh38]
Chr1:112269880 [GRCh37]
Chr1:1p13.2		 uncertain significance
GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3 copy number gain See cases [RCV000512354] Chr1:93837992..121343783 [GRCh37]
Chr1:1p22.1-11.2		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p13.3-13.2(chr1:110994179-112360446)x1 copy number loss not provided [RCV000849607] Chr1:110994179..112360446 [GRCh37]
Chr1:1p13.3-13.2		 pathogenic
NM_019099.5(INKA2):c.563G>A (p.Arg188His) single nucleotide variant not specified [RCV004291768] Chr1:111727299 [GRCh38]
Chr1:112269921 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_019099.5(INKA2):c.133C>T (p.Leu45Phe) single nucleotide variant not specified [RCV004314763] Chr1:111727729 [GRCh38]
Chr1:112270351 [GRCh37]
Chr1:1p13.2		 uncertain significance
GRCh37/hg19 1p21.2-12(chr1:102021465-119737478) copy number loss Seizure [RCV001352640] Chr1:102021465..119737478 [GRCh37]
Chr1:1p21.2-12		 pathogenic
GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783) copy number gain not specified [RCV002053602] Chr1:111647582..121343783 [GRCh37]
Chr1:1p13.3-11.2		 pathogenic
GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931) copy number loss not specified [RCV002053503] Chr1:95046805..114714931 [GRCh37]
Chr1:1p21.3-13.2		 pathogenic
NC_000001.10:g.(?_111145905)_(114454813_?)del deletion not provided [RCV003113195] Chr1:111145905..114454813 [GRCh37]
Chr1:1p13.3-13.2		 pathogenic
NM_019099.5(INKA2):c.256G>A (p.Ala86Thr) single nucleotide variant not specified [RCV004259852] Chr1:111727606 [GRCh38]
Chr1:112270228 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_019099.5(INKA2):c.751C>T (p.Arg251Trp) single nucleotide variant not specified [RCV004324805] Chr1:111727111 [GRCh38]
Chr1:112269733 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_019099.5(INKA2):c.442C>T (p.Arg148Trp) single nucleotide variant not specified [RCV004351626] Chr1:111727420 [GRCh38]
Chr1:112270042 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_019099.5(INKA2):c.630C>G (p.Ile210Met) single nucleotide variant not specified [RCV004360597] Chr1:111727232 [GRCh38]
Chr1:112269854 [GRCh37]
Chr1:1p13.2		 uncertain significance
GRCh37/hg19 1p13.3-13.2(chr1:109483388-112293512)x1 copy number loss not provided [RCV003483272] Chr1:109483388..112293512 [GRCh37]
Chr1:1p13.3-13.2		 pathogenic
GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1 copy number loss not provided [RCV003483294] Chr1:110066946..116672408 [GRCh37]
Chr1:1p13.3-13.1		 pathogenic
NM_019099.5(INKA2):c.796G>A (p.Gly266Arg) single nucleotide variant not specified [RCV004398073] Chr1:111727066 [GRCh38]
Chr1:112269688 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_019099.5(INKA2):c.656G>A (p.Arg219Gln) single nucleotide variant not specified [RCV004398068] Chr1:111727206 [GRCh38]
Chr1:112269828 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_019099.5(INKA2):c.5C>T (p.Thr2Met) single nucleotide variant not specified [RCV004398066] Chr1:111739238 [GRCh38]
Chr1:112281860 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_019099.5(INKA2):c.182G>T (p.Gly61Val) single nucleotide variant not specified [RCV004398053] Chr1:111727680 [GRCh38]
Chr1:112270302 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_019099.5(INKA2):c.848A>G (p.Glu283Gly) single nucleotide variant not specified [RCV004398077] Chr1:111727014 [GRCh38]
Chr1:112269636 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_019099.5(INKA2):c.46A>G (p.Lys16Glu) single nucleotide variant not specified [RCV004398063] Chr1:111739197 [GRCh38]
Chr1:112281819 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_019099.5(INKA2):c.202G>A (p.Glu68Lys) single nucleotide variant not specified [RCV004398054] Chr1:111727660 [GRCh38]
Chr1:112270282 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_019099.5(INKA2):c.692G>T (p.Gly231Val) single nucleotide variant not specified [RCV004398069] Chr1:111727170 [GRCh38]
Chr1:112269792 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_019099.5(INKA2):c.593A>G (p.Gln198Arg) single nucleotide variant not specified [RCV004398065] Chr1:111727269 [GRCh38]
Chr1:112269891 [GRCh37]
Chr1:1p13.2		 likely benign
NM_019099.5(INKA2):c.404G>A (p.Arg135Gln) single nucleotide variant not specified [RCV004398061] Chr1:111727458 [GRCh38]
Chr1:112270080 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_019099.5(INKA2):c.302G>A (p.Ser101Asn) single nucleotide variant not specified [RCV004398056] Chr1:111727560 [GRCh38]
Chr1:112270182 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_019099.5(INKA2):c.787C>T (p.Pro263Ser) single nucleotide variant not specified [RCV004398072] Chr1:111727075 [GRCh38]
Chr1:112269697 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_019099.5(INKA2):c.718T>A (p.Ser240Thr) single nucleotide variant not specified [RCV004398071] Chr1:111727144 [GRCh38]
Chr1:112269766 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_019099.5(INKA2):c.697G>T (p.Val233Leu) single nucleotide variant not specified [RCV004398070] Chr1:111727165 [GRCh38]
Chr1:112269787 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_019099.5(INKA2):c.449G>A (p.Arg150Gln) single nucleotide variant not specified [RCV004398062] Chr1:111727413 [GRCh38]
Chr1:112270035 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_019099.5(INKA2):c.223G>A (p.Glu75Lys) single nucleotide variant not specified [RCV004398055] Chr1:111727639 [GRCh38]
Chr1:112270261 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_019099.5(INKA2):c.826A>C (p.Thr276Pro) single nucleotide variant not specified [RCV004398074] Chr1:111727036 [GRCh38]
Chr1:112269658 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_019099.5(INKA2):c.836C>T (p.Pro279Leu) single nucleotide variant not specified [RCV004398076] Chr1:111727026 [GRCh38]
Chr1:112269648 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_019099.5(INKA2):c.605G>A (p.Arg202His) single nucleotide variant not specified [RCV004398067] Chr1:111727257 [GRCh38]
Chr1:112269879 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_019099.5(INKA2):c.54G>C (p.Glu18Asp) single nucleotide variant not specified [RCV004398064] Chr1:111739189 [GRCh38]
Chr1:112281811 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_019099.5(INKA2):c.380G>A (p.Ser127Asn) single nucleotide variant not specified [RCV004398060] Chr1:111727482 [GRCh38]
Chr1:112270104 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_019099.5(INKA2):c.365C>G (p.Thr122Arg) single nucleotide variant not specified [RCV004398058] Chr1:111727497 [GRCh38]
Chr1:112270119 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_019099.5(INKA2):c.364A>G (p.Thr122Ala) single nucleotide variant not specified [RCV004398057] Chr1:111727498 [GRCh38]
Chr1:112270120 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_019099.5(INKA2):c.851A>G (p.His284Arg) single nucleotide variant not specified [RCV004630684] Chr1:111727011 [GRCh38]
Chr1:112269633 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_019099.5(INKA2):c.209C>T (p.Pro70Leu) single nucleotide variant not specified [RCV004630685] Chr1:111727653 [GRCh38]
Chr1:112270275 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_019099.5(INKA2):c.704C>T (p.Pro235Leu) single nucleotide variant not specified [RCV004630687] Chr1:111727158 [GRCh38]
Chr1:112269780 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_019099.5(INKA2):c.437T>A (p.Met146Lys) single nucleotide variant not specified [RCV004630683] Chr1:111727425 [GRCh38]
Chr1:112270047 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_019099.5(INKA2):c.755G>A (p.Ser252Asn) single nucleotide variant not specified [RCV004630678] Chr1:111727107 [GRCh38]
Chr1:112269729 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_019099.5(INKA2):c.266C>T (p.Thr89Ile) single nucleotide variant not specified [RCV004630679] Chr1:111727596 [GRCh38]
Chr1:112270218 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_019099.5(INKA2):c.47A>G (p.Lys16Arg) single nucleotide variant not specified [RCV004630680] Chr1:111739196 [GRCh38]
Chr1:112281818 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_019099.5(INKA2):c.827C>T (p.Thr276Ile) single nucleotide variant not specified [RCV004630681] Chr1:111727035 [GRCh38]
Chr1:112269657 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_019099.5(INKA2):c.646C>G (p.Arg216Gly) single nucleotide variant not specified [RCV004630682] Chr1:111727216 [GRCh38]
Chr1:112269838 [GRCh37]
Chr1:1p13.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4335
Count of miRNA genes:1242
Interacting mature miRNAs:1620
Transcripts:ENST00000357260, ENST00000412270, ENST00000444059, ENST00000527570, ENST00000527621, ENST00000527660, ENST00000534365
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406973027GWAS622003_Hbody mass index QTL GWAS622003 (human)1e-17body mass indexbody mass index (BMI) (CMO:0000105)1111730863111730864Human
406908643GWAS557619_Hbody mass index QTL GWAS557619 (human)4e-08body mass indexbody mass index (BMI) (CMO:0000105)1111730863111730864Human
1300021BP45_HBlood pressure QTL 45 (human)1.770.00218Blood pressuresystolic1103389009129389009Human
406906406GWAS555382_Hmigraine disorder, type 2 diabetes mellitus QTL GWAS555382 (human)4e-08migraine disorder, type 2 diabetes mellitus1111747361111747362Human
407306958GWAS955934_Htype 2 diabetes mellitus QTL GWAS955934 (human)9e-09type 2 diabetes mellitus1111749681111749682Human
407077006GWAS725982_Hwaist-hip ratio QTL GWAS725982 (human)6e-11waist-hip ratiowaist to hip ratio (WHR) (CMO:0000020)1111730404111730405Human
407073613GWAS722589_Hbody mass index QTL GWAS722589 (human)2e-17body mass indexbody mass index (BMI) (CMO:0000105)1111730863111730864Human
407074285GWAS723261_Hwaist-hip ratio QTL GWAS723261 (human)2e-13waist-hip ratiowaist to hip ratio (WHR) (CMO:0000020)1111731540111731541Human
406906832GWAS555808_HHeadache, type 2 diabetes mellitus QTL GWAS555808 (human)4e-08Headache, type 2 diabetes mellitus1111749681111749682Human
407285783GWAS934759_Hphysical activity measurement QTL GWAS934759 (human)3e-11physical activity measurementvoluntary body movement measurement (CMO:0000954)1111738368111738369Human
407209366GWAS858342_Hbody mass index QTL GWAS858342 (human)2e-09body mass indexbody mass index (BMI) (CMO:0000105)1111740251111740252Human
407010902GWAS659878_Hbody mass index QTL GWAS659878 (human)3e-08body mass indexbody mass index (BMI) (CMO:0000105)1111730404111730405Human
407211165GWAS860141_Hblood protein measurement QTL GWAS860141 (human)1e-08blood protein measurementblood protein measurement (CMO:0000028)1111724878111724879Human
407385169GWAS1034145_Htype 2 diabetes mellitus QTL GWAS1034145 (human)8e-09type 2 diabetes mellitus1111747361111747362Human
407039448GWAS688424_Hbody mass index QTL GWAS688424 (human)0.000005body mass indexbody mass index (BMI) (CMO:0000105)1111730863111730864Human
407071352GWAS720328_Hlongevity QTL GWAS720328 (human)0.0000004longevity1111734975111734976Human
406999772GWAS648748_HPostural instability QTL GWAS648748 (human)0.0000003Postural instability1111731540111731541Human
407367544GWAS1016520_Hmultisite chronic pain QTL GWAS1016520 (human)4e-10multisite chronic pain1111741033111741034Human

Markers in Region
D1S2837  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371112,275,139 - 112,275,384UniSTSGRCh37
Build 361112,076,662 - 112,076,907RGDNCBI36
Celera1110,521,763 - 110,522,008RGD
Cytogenetic Map1p13.2UniSTS
HuRef1110,146,531 - 110,146,776UniSTS
Marshfield Genetic Map1146.53UniSTS
Marshfield Genetic Map1146.53RGD
Genethon Genetic Map1151.1UniSTS
deCODE Assembly Map1133.05UniSTS
SHGC-75322  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371112,266,539 - 112,266,705UniSTSGRCh37
Build 361112,068,062 - 112,068,228RGDNCBI36
Celera1110,513,151 - 110,513,317RGD
Cytogenetic Map1p13.2UniSTS
HuRef1110,137,918 - 110,138,084UniSTS
TNG Radiation Hybrid Map161098.0UniSTS
GeneMap99-GB4 RH Map1356.42UniSTS
NCBI RH Map1820.2UniSTS
RH103153  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371112,290,154 - 112,290,310UniSTSGRCh37
Build 361112,091,677 - 112,091,833RGDNCBI36
Celera1110,536,753 - 110,536,909RGD
Cytogenetic Map1p13.2UniSTS
HuRef1110,161,525 - 110,161,681UniSTS
GeneMap99-GB4 RH Map1356.47UniSTS
G60323  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371112,275,136 - 112,275,414UniSTSGRCh37
Build 361112,076,659 - 112,076,937RGDNCBI36
Celera1110,521,760 - 110,522,038RGD
Cytogenetic Map1p13.2UniSTS
HuRef1110,146,528 - 110,146,806UniSTS
TNG Radiation Hybrid Map556931.0UniSTS
TNG Radiation Hybrid Map161109.0UniSTS
WI-18529  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371112,264,706 - 112,264,832UniSTSGRCh37
Build 361112,066,229 - 112,066,355RGDNCBI36
Celera1110,511,317 - 110,511,443RGD
Cytogenetic Map1p13.2UniSTS
HuRef1110,136,085 - 110,136,211UniSTS
Whitehead-RH Map1389.4UniSTS
A005Z45  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371112,264,748 - 112,264,948UniSTSGRCh37
Build 361112,066,271 - 112,066,471RGDNCBI36
Celera1110,511,359 - 110,511,559RGD
Cytogenetic Map1p13.2UniSTS
HuRef1110,136,127 - 110,136,327UniSTS
GeneMap99-GB4 RH Map1355.37UniSTS
SHGC-75290  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371112,269,127 - 112,269,226UniSTSGRCh37
Build 361112,070,650 - 112,070,749RGDNCBI36
Celera1110,515,739 - 110,515,838RGD
Cytogenetic Map1p13.2UniSTS
HuRef1110,140,506 - 110,140,605UniSTS
TNG Radiation Hybrid Map161109.0UniSTS
GeneMap99-GB4 RH Map1340.11UniSTS
RH78081  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371112,264,850 - 112,265,010UniSTSGRCh37
Build 361112,066,373 - 112,066,533RGDNCBI36
Celera1110,511,461 - 110,511,621RGD
Cytogenetic Map1p13.2UniSTS
HuRef1110,136,229 - 110,136,389UniSTS
GeneMap99-GB4 RH Map1356.47UniSTS
SHGC-75320  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371112,265,475 - 112,265,597UniSTSGRCh37
Build 361112,066,998 - 112,067,120RGDNCBI36
Celera1110,512,086 - 110,512,208RGD
Cytogenetic Map1p13.2UniSTS
HuRef1110,136,854 - 110,136,976UniSTS
TNG Radiation Hybrid Map161098.0UniSTS
GeneMap99-GB4 RH Map1356.16UniSTS
SHGC-75331  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371112,290,133 - 112,290,374UniSTSGRCh37
Build 361112,091,656 - 112,091,897RGDNCBI36
Celera1110,536,732 - 110,536,973RGD
Cytogenetic Map1p13.2UniSTS
HuRef1110,161,504 - 110,161,745UniSTS
TNG Radiation Hybrid Map161082.0UniSTS
GeneMap99-GB4 RH Map1363.06UniSTS
G20328  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371112,265,557 - 112,265,695UniSTSGRCh37
Build 361112,067,080 - 112,067,218RGDNCBI36
Celera1110,512,168 - 110,512,306RGD
Cytogenetic Map1p13.2UniSTS
HuRef1110,136,936 - 110,137,074UniSTS
A005M10  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371112,265,557 - 112,265,695UniSTSGRCh37
Build 361112,067,080 - 112,067,218RGDNCBI36
Celera1110,512,168 - 110,512,306RGD
Cytogenetic Map1p13.2UniSTS
HuRef1110,136,936 - 110,137,074UniSTS
GeneMap99-GB4 RH Map1356.16UniSTS
L29973  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371112,274,916 - 112,275,371UniSTSGRCh37
Build 361112,076,439 - 112,076,894RGDNCBI36
Celera1110,521,540 - 110,521,995RGD
Cytogenetic Map1p13.2UniSTS
HuRef1110,146,308 - 110,146,763UniSTS
G32311  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371112,264,748 - 112,264,948UniSTSGRCh37
Celera1110,511,359 - 110,511,559UniSTS
Cytogenetic Map1p13.2UniSTS
HuRef1110,136,127 - 110,136,327UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2251 4970 1709 2334 6 607 1940 448 2270 7263 6457 53 3730 1 841 1740 1617 174 1

Sequence


Ensembl Acc Id: ENST00000357260   ⟹   ENSP00000349805
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1111,722,064 - 111,739,395 (-)Ensembl
Ensembl Acc Id: ENST00000444059
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1111,726,506 - 111,755,824 (-)Ensembl
Ensembl Acc Id: ENST00000527570
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1111,680,630 - 111,739,403 (-)Ensembl
Ensembl Acc Id: ENST00000527621   ⟹   ENSP00000437205
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1111,727,344 - 111,739,253 (-)Ensembl
Ensembl Acc Id: ENST00000534365   ⟹   ENSP00000436075
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1111,722,351 - 111,739,363 (-)Ensembl
RefSeq Acc Id: NM_019099   ⟹   NP_061972
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381111,722,064 - 111,739,395 (-)NCBI
GRCh371112,264,686 - 112,298,419 (-)RGD
Build 361112,069,893 - 112,083,545 (-)NCBI Archive
Celera1110,511,297 - 110,545,039 (-)RGD
HuRef1110,136,065 - 110,169,809 (-)RGD
CHM1_11112,379,672 - 112,397,052 (-)NCBI
T2T-CHM13v2.01111,736,962 - 111,754,295 (-)NCBI
Sequence:
RefSeq Acc Id: NM_198926   ⟹   NP_945120
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381111,722,064 - 111,755,797 (-)NCBI
GRCh371112,264,686 - 112,298,419 (-)RGD
Build 361112,069,893 - 112,099,942 (-)NCBI Archive
Celera1110,511,297 - 110,545,039 (-)RGD
HuRef1110,136,065 - 110,169,809 (-)RGD
CHM1_11112,379,672 - 112,413,403 (-)NCBI
T2T-CHM13v2.01111,736,962 - 111,770,699 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011541783   ⟹   XP_011540085
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381111,722,064 - 111,739,395 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054337706   ⟹   XP_054193681
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01111,736,962 - 111,754,295 (-)NCBI
RefSeq Acc Id: NP_945120   ⟸   NM_198926
- Peptide Label: isoform 2
- UniProtKB: Q9NTI7 (UniProtKB/Swiss-Prot),   A0A1W2PL72 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_061972   ⟸   NM_019099
- Peptide Label: isoform 1
- UniProtKB: B4DF94 (UniProtKB/Swiss-Prot),   B3KP38 (UniProtKB/Swiss-Prot),   Q9NTI6 (UniProtKB/Swiss-Prot),   Q9NTI7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011540085   ⟸   XM_011541783
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSP00000436075   ⟸   ENST00000534365
Ensembl Acc Id: ENSP00000437205   ⟸   ENST00000527621
Ensembl Acc Id: ENSP00000349805   ⟸   ENST00000357260
RefSeq Acc Id: XP_054193681   ⟸   XM_054337706
- Peptide Label: isoform X1
Protein Domains
FAM212

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NTI7-F1-model_v2 AlphaFold Q9NTI7 1-297 view protein structure

Promoters
RGD ID:6856624
Promoter ID:EPDNEW_H1477
Type:initiation region
Name:FAM212B_1
Description:family with sequence similarity 212 member B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1479  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381111,739,395 - 111,739,455EPDNEW
RGD ID:6856628
Promoter ID:EPDNEW_H1479
Type:initiation region
Name:FAM212B_2
Description:family with sequence similarity 212 member B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1477  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381111,755,824 - 111,755,884EPDNEW
RGD ID:6856630
Promoter ID:EPDNEW_H1480
Type:initiation region
Name:RP4-773A18_1
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
GRCh381111,755,850 - 111,755,910EPDNEW
RGD ID:6786684
Promoter ID:HG_KWN:4137
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:NM_019099,   OTTHUMT00000033061
Position:
Human AssemblyChrPosition (strand)Source
Build 361112,082,696 - 112,083,867 (+)MPROMDB
RGD ID:6786683
Promoter ID:HG_KWN:4138
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_198926,   OTTHUMT00000033062
Position:
Human AssemblyChrPosition (strand)Source
Build 361112,099,394 - 112,099,894 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28045 AgrOrtholog
COSMIC INKA2 COSMIC
Ensembl Genes ENSG00000197852 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000357260 ENTREZGENE
  ENST00000357260.6 UniProtKB/Swiss-Prot
  ENST00000527621.1 UniProtKB/TrEMBL
  ENST00000534365.1 UniProtKB/TrEMBL
GTEx ENSG00000197852 GTEx
HGNC ID HGNC:28045 ENTREZGENE
Human Proteome Map INKA2 Human Proteome Map
InterPro FAM212 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Inka UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55924 UniProtKB/Swiss-Prot
NCBI Gene 55924 ENTREZGENE
OMIM 620403 OMIM
PANTHER PAK4-INHIBITOR INKA2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR28615 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FAM212 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142672431 PharmGKB
UniProt A0A1W2PL72 ENTREZGENE
  B3KP38 ENTREZGENE
  B4DF94 ENTREZGENE
  E9PND8_HUMAN UniProtKB/TrEMBL
  E9PR53_HUMAN UniProtKB/TrEMBL
  INKA2_HUMAN UniProtKB/Swiss-Prot
  Q9NTI6 ENTREZGENE
  Q9NTI7 ENTREZGENE
UniProt Secondary B3KP38 UniProtKB/Swiss-Prot
  B4DF94 UniProtKB/Swiss-Prot
  Q9NTI6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-04-24 INKA2  inka box actin regulator 2  FAM212B  family with sequence similarity 212 member B  Symbol and/or name change 5135510 APPROVED
2015-11-24 FAM212B  family with sequence similarity 212 member B    family with sequence similarity 212, member B  Symbol and/or name change 5135510 APPROVED
2011-11-29 FAM212B  family with sequence similarity 212, member B  C1orf183  chromosome 1 open reading frame 183  Symbol and/or name change 5135510 APPROVED