CTTNBP2NL (CTTNBP2 N-terminal like) - Rat Genome Database

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Gene: CTTNBP2NL (CTTNBP2 N-terminal like) Homo sapiens
Analyze
Symbol: CTTNBP2NL
Name: CTTNBP2 N-terminal like
RGD ID: 1607020
HGNC Page HGNC:25330
Description: Enables protein phosphatase 2A binding activity. Acts upstream of or within negative regulation of transmembrane transport; negative regulation of transporter activity; and protein dephosphorylation. Located in actin cytoskeleton. Part of FAR/SIN/STRIPAK complex.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: CTTNBP2 N-terminal-like protein; DKFZp547A023; FLJ13278
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
GRCh381112,391,087 - 112,461,164 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1112,396,214 - 112,463,456 (+)EnsemblGRCh38hg38GRCh38
GRCh371112,938,836 - 113,003,786 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361112,740,383 - 112,803,739 (+)NCBINCBI36Build 36hg18NCBI36
Celera1111,169,369 - 111,234,318 (+)NCBICelera
Cytogenetic Map1p13.2NCBI
HuRef1110,795,912 - 110,861,154 (+)NCBIHuRef
CHM1_11113,053,632 - 113,118,610 (+)NCBICHM1_1
T2T-CHM13v2.01112,403,339 - 112,473,705 (+)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
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP)
amitrole  (ISO)
arsane  (ISO)
arsenic atom  (ISO)
arsenite(3-)  (EXP)
arsenous acid  (ISO)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
Benzo[k]fluoranthene  (ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
caffeine  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloroprene  (ISO)
chlorpyrifos  (ISO)
copper(II) sulfate  (EXP)
coumarin  (EXP)
coumestrol  (EXP)
cyclosporin A  (EXP)
dexamethasone  (EXP)
diarsenic trioxide  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
Enterolactone  (EXP)
ethyl methanesulfonate  (EXP)
fluoranthene  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
furan  (ISO)
gentamycin  (ISO)
indometacin  (EXP)
inulin  (ISO)
ivermectin  (EXP)
ketamine  (ISO)
metformin  (ISO)
methimazole  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
N-nitrosodimethylamine  (ISO)
oxaliplatin  (ISO)
paracetamol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
resveratrol  (EXP)
SB 431542  (EXP)
silicon dioxide  (ISO)
sodium arsenite  (EXP)
Soman  (ISO)
succimer  (ISO)
sulfadimethoxine  (ISO)
sulforaphane  (ISO)
sunitinib  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
triadimefon  (ISO)
trichostatin A  (EXP)
triptonide  (ISO)
trovafloxacin  (ISO)
urethane  (EXP)
valproic acid  (EXP)
vancomycin  (ISO)
vinclozolin  (ISO)
vorinostat  (EXP)

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:10718198   PMID:11076863   PMID:11256614   PMID:12477932   PMID:14702039   PMID:15302935   PMID:15345747   PMID:15489334   PMID:15489336   PMID:16344560   PMID:16381901   PMID:16710414  
PMID:16964243   PMID:18029348   PMID:18782753   PMID:19156129   PMID:19615732   PMID:20360068   PMID:21873635   PMID:22863883   PMID:23277359   PMID:23443559   PMID:23455922   PMID:24218568  
PMID:24255178   PMID:24366813   PMID:25416956   PMID:25798074   PMID:25921289   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26638075   PMID:26777405   PMID:27432908   PMID:28330616  
PMID:28514442   PMID:28524877   PMID:29117863   PMID:29299163   PMID:29507755   PMID:29509190   PMID:29676528   PMID:31024071   PMID:31527615   PMID:31594818   PMID:32296183   PMID:32640226  
PMID:32687490   PMID:32707033   PMID:33853758   PMID:33961781   PMID:34079125   PMID:34795231   PMID:35271311   PMID:35831314   PMID:35944360   PMID:36779422   PMID:37468549   PMID:38943005  


Genomics

Comparative Map Data
CTTNBP2NL
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381112,391,087 - 112,461,164 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1112,396,214 - 112,463,456 (+)EnsemblGRCh38hg38GRCh38
GRCh371112,938,836 - 113,003,786 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361112,740,383 - 112,803,739 (+)NCBINCBI36Build 36hg18NCBI36
Celera1111,169,369 - 111,234,318 (+)NCBICelera
Cytogenetic Map1p13.2NCBI
HuRef1110,795,912 - 110,861,154 (+)NCBIHuRef
CHM1_11113,053,632 - 113,118,610 (+)NCBICHM1_1
T2T-CHM13v2.01112,403,339 - 112,473,705 (+)NCBIT2T-CHM13v2.0
Cttnbp2nl
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393104,909,231 - 104,960,462 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl3104,909,231 - 104,960,462 (-)EnsemblGRCm39 Ensembl
GRCm383105,001,915 - 105,053,146 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3105,001,915 - 105,053,146 (-)EnsemblGRCm38mm10GRCm38
MGSCv373104,804,833 - 104,856,064 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv363105,131,801 - 105,181,202 (-)NCBIMGSCv36mm8
Celera3107,199,733 - 107,250,872 (-)NCBICelera
Cytogenetic Map3F2.2NCBI
cM Map345.88NCBI
Cttnbp2nl
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82195,196,318 - 195,244,792 (-)NCBIGRCr8
mRatBN7.22192,507,963 - 192,554,548 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2192,507,963 - 192,541,101 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2200,101,956 - 200,148,586 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02197,974,589 - 198,021,168 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02192,791,536 - 192,838,115 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02207,495,056 - 207,541,808 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2207,495,055 - 207,541,645 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02226,917,956 - 226,964,542 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42200,272,402 - 200,319,448 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12200,235,155 - 200,282,193 (-)NCBI
Celera2184,973,748 - 185,020,236 (-)NCBICelera
Cytogenetic Map2q34NCBI
Cttnbp2nl
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543515,857,948 - 15,910,486 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495543515,858,056 - 15,910,486 (+)NCBIChiLan1.0ChiLan1.0
CTTNBP2NL
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21114,574,923 - 114,640,338 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11113,723,050 - 113,788,449 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01115,049,389 - 115,114,146 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11125,233,780 - 125,301,107 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1125,236,986 - 125,300,860 (-)Ensemblpanpan1.1panPan2
CTTNBP2NL
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11763,078,111 - 63,132,251 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1763,079,732 - 63,118,653 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1762,591,512 - 62,646,041 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01764,252,356 - 64,306,962 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1764,252,356 - 64,306,001 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11762,986,214 - 63,040,734 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01763,044,585 - 63,099,107 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01763,852,322 - 63,893,840 (-)NCBIUU_Cfam_GSD_1.0
Cttnbp2nl
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505816,442,784 - 16,495,365 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936690982,402 - 1,035,005 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936690982,414 - 1,034,947 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CTTNBP2NL
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4107,959,571 - 108,011,611 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14107,957,420 - 108,012,764 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24118,026,554 - 118,082,336 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CTTNBP2NL
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12021,181,241 - 21,248,049 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2021,180,925 - 21,247,981 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603837,233,367 - 37,300,128 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cttnbp2nl
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247728,216,556 - 8,254,626 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247728,201,321 - 8,254,626 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CTTNBP2NL
39 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p13.2(chr1:112147402-113470058)x3 copy number gain See cases [RCV000051203] Chr1:112147402..113470058 [GRCh38]
Chr1:112690024..114012680 [GRCh37]
Chr1:112491547..113814203 [NCBI36]
Chr1:1p13.2		 uncertain 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_018704.2(CTTNBP2NL):c.100-520A>G single nucleotide variant Lung cancer [RCV000089722] Chr1:112448422 [GRCh38]
Chr1:112991044 [GRCh37]
Chr1:1p13.2		 uncertain significance
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
GRCh37/hg19 1p13.2(chr1:112311427-113836310)x1 copy number loss See cases [RCV000448763] Chr1:112311427..113836310 [GRCh37]
Chr1:1p13.2		 uncertain significance
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_018704.3(CTTNBP2NL):c.1447C>T (p.Pro483Ser) single nucleotide variant not specified [RCV004332838] Chr1:112456939 [GRCh38]
Chr1:112999561 [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 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12		 likely benign
NM_018704.3(CTTNBP2NL):c.916A>G (p.Met306Val) single nucleotide variant not provided [RCV000963765] Chr1:112456408 [GRCh38]
Chr1:112999030 [GRCh37]
Chr1:1p13.2		 benign
NM_018704.3(CTTNBP2NL):c.655G>A (p.Glu219Lys) single nucleotide variant not specified [RCV004284277] Chr1:112456147 [GRCh38]
Chr1:112998769 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_018704.3(CTTNBP2NL):c.1489G>A (p.Ala497Thr) single nucleotide variant not specified [RCV004292943] Chr1:112456981 [GRCh38]
Chr1:112999603 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_018704.3(CTTNBP2NL):c.211G>A (p.Glu71Lys) single nucleotide variant not provided [RCV000888900] Chr1:112449053 [GRCh38]
Chr1:112991675 [GRCh37]
Chr1:1p13.2		 benign
GRCh37/hg19 1p21.2-12(chr1:102021465-119737478) copy number loss Seizure [RCV001352640] Chr1:102021465..119737478 [GRCh37]
Chr1:1p21.2-12		 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
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
NC_000001.10:g.(?_112318699)_(115576848_?)del deletion Hereditary spastic paraplegia 47 [RCV003109541] Chr1:112318699..115576848 [GRCh37]
Chr1:1p13.2		 pathogenic
NC_000001.10:g.(?_111145905)_(114454813_?)del deletion not provided [RCV003113195] Chr1:111145905..114454813 [GRCh37]
Chr1:1p13.3-13.2		 pathogenic
NM_018704.3(CTTNBP2NL):c.1477G>C (p.Asp493His) single nucleotide variant not specified [RCV004322868] Chr1:112456969 [GRCh38]
Chr1:112999591 [GRCh37]
Chr1:1p13.2		 uncertain significance
GRCh37/hg19 1p13.2(chr1:112680493-113047932)x1 copy number loss not provided [RCV002474978] Chr1:112680493..113047932 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_018704.3(CTTNBP2NL):c.1351T>A (p.Tyr451Asn) single nucleotide variant not specified [RCV004147328] Chr1:112456843 [GRCh38]
Chr1:112999465 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_018704.3(CTTNBP2NL):c.641T>C (p.Val214Ala) single nucleotide variant not specified [RCV004156293] Chr1:112456133 [GRCh38]
Chr1:112998755 [GRCh37]
Chr1:1p13.2		 likely benign
NM_018704.3(CTTNBP2NL):c.403A>G (p.Met135Val) single nucleotide variant not specified [RCV004136721] Chr1:112454521 [GRCh38]
Chr1:112997143 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_018704.3(CTTNBP2NL):c.455C>T (p.Ser152Phe) single nucleotide variant not specified [RCV004080940] Chr1:112455947 [GRCh38]
Chr1:112998569 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_018704.3(CTTNBP2NL):c.1912A>G (p.Ser638Gly) single nucleotide variant not specified [RCV004137919] Chr1:112457404 [GRCh38]
Chr1:113000026 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_018704.3(CTTNBP2NL):c.947G>A (p.Ser316Asn) single nucleotide variant not specified [RCV004120793] Chr1:112456439 [GRCh38]
Chr1:112999061 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_018704.3(CTTNBP2NL):c.1102G>T (p.Val368Leu) single nucleotide variant not specified [RCV004229695] Chr1:112456594 [GRCh38]
Chr1:112999216 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_018704.3(CTTNBP2NL):c.832G>A (p.Glu278Lys) single nucleotide variant not specified [RCV004213276] Chr1:112456324 [GRCh38]
Chr1:112998946 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_018704.3(CTTNBP2NL):c.1367A>G (p.Asn456Ser) single nucleotide variant not specified [RCV004148635] Chr1:112456859 [GRCh38]
Chr1:112999481 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_018704.3(CTTNBP2NL):c.848A>G (p.His283Arg) single nucleotide variant not specified [RCV004146392] Chr1:112456340 [GRCh38]
Chr1:112998962 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_018704.3(CTTNBP2NL):c.497G>A (p.Ser166Asn) single nucleotide variant not specified [RCV004198856] Chr1:112455989 [GRCh38]
Chr1:112998611 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_018704.3(CTTNBP2NL):c.1798A>T (p.Thr600Ser) single nucleotide variant not specified [RCV004202645] Chr1:112457290 [GRCh38]
Chr1:112999912 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_018704.3(CTTNBP2NL):c.276C>A (p.Asn92Lys) single nucleotide variant not specified [RCV004117076] Chr1:112449118 [GRCh38]
Chr1:112991740 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_018704.3(CTTNBP2NL):c.1123C>T (p.Arg375Trp) single nucleotide variant not specified [RCV004080247] Chr1:112456615 [GRCh38]
Chr1:112999237 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_018704.3(CTTNBP2NL):c.1079G>C (p.Arg360Thr) single nucleotide variant not specified [RCV004212246] Chr1:112456571 [GRCh38]
Chr1:112999193 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_018704.3(CTTNBP2NL):c.1127A>G (p.Glu376Gly) single nucleotide variant not specified [RCV004217384] Chr1:112456619 [GRCh38]
Chr1:112999241 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_018704.3(CTTNBP2NL):c.244A>G (p.Ile82Val) single nucleotide variant not specified [RCV004279720] Chr1:112449086 [GRCh38]
Chr1:112991708 [GRCh37]
Chr1:1p13.2		 likely benign
NM_018704.3(CTTNBP2NL):c.1865A>G (p.Asn622Ser) single nucleotide variant not specified [RCV004280268] Chr1:112457357 [GRCh38]
Chr1:112999979 [GRCh37]
Chr1:1p13.2		 likely benign
NM_018704.3(CTTNBP2NL):c.965C>T (p.Thr322Ile) single nucleotide variant not specified [RCV004322735] Chr1:112456457 [GRCh38]
Chr1:112999079 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_018704.3(CTTNBP2NL):c.1829C>T (p.Thr610Ile) single nucleotide variant not specified [RCV004352310] Chr1:112457321 [GRCh38]
Chr1:112999943 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_018704.3(CTTNBP2NL):c.1037C>G (p.Ala346Gly) single nucleotide variant not specified [RCV004354049] Chr1:112456529 [GRCh38]
Chr1:112999151 [GRCh37]
Chr1:1p13.2		 uncertain significance
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_018704.3(CTTNBP2NL):c.1126G>A (p.Glu376Lys) single nucleotide variant not specified [RCV004375147] Chr1:112456618 [GRCh38]
Chr1:112999240 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_018704.3(CTTNBP2NL):c.1180G>T (p.Val394Leu) single nucleotide variant not specified [RCV004375149] Chr1:112456672 [GRCh38]
Chr1:112999294 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_018704.3(CTTNBP2NL):c.1610C>T (p.Ala537Val) single nucleotide variant not specified [RCV004375151] Chr1:112457102 [GRCh38]
Chr1:112999724 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_018704.3(CTTNBP2NL):c.583G>A (p.Glu195Lys) single nucleotide variant not specified [RCV004375152] Chr1:112456075 [GRCh38]
Chr1:112998697 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_018704.3(CTTNBP2NL):c.818T>C (p.Ile273Thr) single nucleotide variant not specified [RCV004375154] Chr1:112456310 [GRCh38]
Chr1:112998932 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_018704.3(CTTNBP2NL):c.1144G>T (p.Ala382Ser) single nucleotide variant not specified [RCV004375148] Chr1:112456636 [GRCh38]
Chr1:112999258 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_018704.3(CTTNBP2NL):c.687G>T (p.Leu229Phe) single nucleotide variant not specified [RCV004375153] Chr1:112456179 [GRCh38]
Chr1:112998801 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_018704.3(CTTNBP2NL):c.1058A>G (p.Asp353Gly) single nucleotide variant not specified [RCV004375146] Chr1:112456550 [GRCh38]
Chr1:112999172 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_018704.3(CTTNBP2NL):c.1445C>G (p.Pro482Arg) single nucleotide variant not specified [RCV004375150] Chr1:112456937 [GRCh38]
Chr1:112999559 [GRCh37]
Chr1:1p13.2		 uncertain significance
NM_018704.3(CTTNBP2NL):c.22A>G (p.Lys8Glu) single nucleotide variant not specified [RCV004616044] Chr1:112416187 [GRCh38]
Chr1:112958809 [GRCh37]
Chr1:1p13.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1637
Count of miRNA genes:976
Interacting mature miRNAs:1131
Transcripts:ENST00000271277, ENST00000441739, ENST00000502356, ENST00000607039
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407336982GWAS985958_Heducational attainment QTL GWAS985958 (human)8e-09educational attainment1112421990112421991Human
407399594GWAS1048570_HCOVID-19 QTL GWAS1048570 (human)0.000007COVID-191112392939112392940Human
407203857GWAS852833_Hneutrophil count QTL GWAS852833 (human)3e-16neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)1112404281112404282Human
1300021BP45_HBlood pressure QTL 45 (human)1.770.00218Blood pressuresystolic1103389009129389009Human
407190047GWAS839023_HFEV/FVC ratio QTL GWAS839023 (human)4e-12FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)1112403161112403162Human
407204315GWAS853291_HFEV/FVC ratio QTL GWAS853291 (human)5e-09FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)1112403161112403162Human

Markers in Region
SHGC-53201  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371113,000,728 - 113,000,855UniSTSGRCh37
Build 361112,802,251 - 112,802,378RGDNCBI36
Celera1111,231,265 - 111,231,392RGD
Cytogenetic Map1p13.2UniSTS
HuRef1110,858,101 - 110,858,228UniSTS
TNG Radiation Hybrid Map160832.0UniSTS
D1S2594  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371113,005,701 - 113,005,915UniSTSGRCh37
Build 361112,807,224 - 112,807,438RGDNCBI36
Celera1111,236,233 - 111,236,447RGD
Cytogenetic Map1p13.2UniSTS
HuRef1110,863,069 - 110,863,283UniSTS
Stanford-G3 RH Map15232.0UniSTS
SHGC-75328  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371112,962,026 - 112,962,151UniSTSGRCh37
Build 361112,763,549 - 112,763,674RGDNCBI36
Celera1111,192,582 - 111,192,707RGD
Cytogenetic Map1p13.2UniSTS
HuRef1110,819,126 - 110,819,251UniSTS
TNG Radiation Hybrid Map160739.0UniSTS
GeneMap99-GB4 RH Map1362.04UniSTS
RH69499  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371113,002,551 - 113,002,806UniSTSGRCh37
Build 361112,804,074 - 112,804,329RGDNCBI36
Celera1111,233,083 - 111,233,338RGD
Cytogenetic Map1p13.2UniSTS
HuRef1110,859,919 - 110,860,174UniSTS
GeneMap99-GB4 RH Map1360.32UniSTS
SHGC-75334  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371113,001,197 - 113,001,361UniSTSGRCh37
Build 361112,802,720 - 112,802,884RGDNCBI36
Celera1111,231,730 - 111,231,894RGD
Cytogenetic Map1p13.2UniSTS
HuRef1110,858,566 - 110,858,730UniSTS
TNG Radiation Hybrid Map160832.0UniSTS
GeneMap99-GB4 RH Map1363.97UniSTS


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 2438 2788 2252 4974 1726 2351 5 624 1934 465 2270 7289 6455 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_018704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK022544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL354760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL359565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL450407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL591521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL598321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE645464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA238082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB236769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000271277   ⟹   ENSP00000271277
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1112,396,214 - 112,461,164 (+)Ensembl
Ensembl Acc Id: ENST00000441739   ⟹   ENSP00000390976
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1112,396,519 - 112,456,306 (+)Ensembl
Ensembl Acc Id: ENST00000502356
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1112,414,717 - 112,416,287 (+)Ensembl
Ensembl Acc Id: ENST00000607039
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1112,456,818 - 112,463,456 (+)Ensembl
RefSeq Acc Id: NM_018704   ⟹   NP_061174
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381112,396,214 - 112,461,164 (+)NCBI
GRCh371112,938,800 - 113,003,786 (+)RGD
Build 361112,740,383 - 112,803,739 (+)NCBI Archive
Celera1111,169,369 - 111,234,318 (+)RGD
HuRef1110,795,912 - 110,861,154 (+)RGD
CHM1_11113,053,632 - 113,118,610 (+)NCBI
T2T-CHM13v2.01112,408,508 - 112,473,705 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011541781   ⟹   XP_011540083
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381112,396,214 - 112,461,164 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017001806   ⟹   XP_016857295
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381112,391,087 - 112,461,164 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047425362   ⟹   XP_047281318
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381112,411,707 - 112,461,164 (+)NCBI
RefSeq Acc Id: XM_054337703   ⟹   XP_054193678
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01112,408,561 - 112,473,705 (+)NCBI
RefSeq Acc Id: XM_054337704   ⟹   XP_054193679
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01112,423,983 - 112,473,705 (+)NCBI
RefSeq Acc Id: XM_054337705   ⟹   XP_054193680
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01112,403,339 - 112,473,705 (+)NCBI
RefSeq Acc Id: NP_061174   ⟸   NM_018704
- UniProtKB: B3KMS5 (UniProtKB/Swiss-Prot),   Q96B40 (UniProtKB/Swiss-Prot),   Q9P2B4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011540083   ⟸   XM_011541781
- Peptide Label: isoform X1
- UniProtKB: B3KMS5 (UniProtKB/Swiss-Prot),   Q96B40 (UniProtKB/Swiss-Prot),   Q9P2B4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016857295   ⟸   XM_017001806
- Peptide Label: isoform X1
- UniProtKB: B3KMS5 (UniProtKB/Swiss-Prot),   Q96B40 (UniProtKB/Swiss-Prot),   Q9P2B4 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000390976   ⟸   ENST00000441739
Ensembl Acc Id: ENSP00000271277   ⟸   ENST00000271277
RefSeq Acc Id: XP_047281318   ⟸   XM_047425362
- Peptide Label: isoform X1
- UniProtKB: Q9P2B4 (UniProtKB/Swiss-Prot),   B3KMS5 (UniProtKB/Swiss-Prot),   Q96B40 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054193680   ⟸   XM_054337705
- Peptide Label: isoform X1
- UniProtKB: Q96B40 (UniProtKB/Swiss-Prot),   Q9P2B4 (UniProtKB/Swiss-Prot),   B3KMS5 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054193678   ⟸   XM_054337703
- Peptide Label: isoform X1
- UniProtKB: Q96B40 (UniProtKB/Swiss-Prot),   Q9P2B4 (UniProtKB/Swiss-Prot),   B3KMS5 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054193679   ⟸   XM_054337704
- Peptide Label: isoform X1
- UniProtKB: Q96B40 (UniProtKB/Swiss-Prot),   Q9P2B4 (UniProtKB/Swiss-Prot),   B3KMS5 (UniProtKB/Swiss-Prot)
Protein Domains
Cortactin-binding protein-2 N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9P2B4-F1-model_v2 AlphaFold Q9P2B4 1-639 view protein structure

Promoters
RGD ID:6856638
Promoter ID:EPDNEW_H1484
Type:initiation region
Name:CTTNBP2NL_1
Description:CTTNBP2 N-terminal like
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1485  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381112,396,214 - 112,396,274EPDNEW
RGD ID:6856640
Promoter ID:EPDNEW_H1485
Type:initiation region
Name:CTTNBP2NL_2
Description:CTTNBP2 N-terminal like
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1484  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381112,396,458 - 112,396,518EPDNEW
RGD ID:6785008
Promoter ID:HG_KWN:4149
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000030686,   OTTHUMT00000030687,   OTTHUMT00000030688,   UC001EBY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361112,739,566 - 112,740,487 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25330 AgrOrtholog
COSMIC CTTNBP2NL COSMIC
Ensembl Genes ENSG00000143079 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000271277 ENTREZGENE
  ENST00000271277.11 UniProtKB/Swiss-Prot
  ENST00000441739.1 UniProtKB/TrEMBL
GTEx ENSG00000143079 GTEx
HGNC ID HGNC:25330 ENTREZGENE
Human Proteome Map CTTNBP2NL Human Proteome Map
InterPro Cortactin-Actin_Reg UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cortactin-binding_p2_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55917 UniProtKB/Swiss-Prot
NCBI Gene 55917 ENTREZGENE
OMIM 615100 OMIM
PANTHER CTTNBP2 N-TERMINAL-LIKE PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FILAMIN/GPBP-INTERACTING PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CortBP2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142672062 PharmGKB
UniProt B1AMN7_HUMAN UniProtKB/TrEMBL
  B3KMS5 ENTREZGENE
  CT2NL_HUMAN UniProtKB/Swiss-Prot
  Q96B40 ENTREZGENE
  Q9P2B4 ENTREZGENE
UniProt Secondary B3KMS5 UniProtKB/Swiss-Prot
  Q96B40 UniProtKB/Swiss-Prot