ITGB1BP1 (integrin subunit beta 1 binding protein 1) - Rat Genome Database

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Gene: ITGB1BP1 (integrin subunit beta 1 binding protein 1) Homo sapiens
Analyze
Symbol: ITGB1BP1
Name: integrin subunit beta 1 binding protein 1
RGD ID: 1317220
HGNC Page HGNC:23927
Description: Enables GDP-dissociation inhibitor activity and integrin binding activity. Involved in several processes, including negative regulation of cell-substrate adhesion; regulation of endothelial cell migration; and regulation of protein kinase activity. Located in several cellular components, including centriolar satellite; lamellipodium; and ruffle.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: bodenin; DKFZp686K08158; ICAP-1; ICAP-1A; ICAP-1alpha; ICAP-1B; ICAP1; ICAP1A; ICAP1B; integrin beta 1 binding protein 1; integrin beta-1-binding protein 1; integrin cytoplasmic domain-associated protein 1; integrin cytoplasmic domain-associated protein 1-alpha; integrin cytoplasmic domain-associated protein 1-beta
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: AL035407.1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3829,403,475 - 9,423,569 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl29,403,475 - 9,423,528 (-)EnsemblGRCh38hg38GRCh38
GRCh3729,543,604 - 9,563,698 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3629,463,264 - 9,481,094 (-)NCBINCBI36Build 36hg18NCBI36
Build 3429,496,414 - 9,514,233NCBI
Celera29,457,992 - 9,475,539 (-)NCBICelera
Cytogenetic Map2p25.1NCBI
HuRef29,391,245 - 9,409,126 (-)NCBIHuRef
CHM1_129,475,472 - 9,493,078 (-)NCBICHM1_1
T2T-CHM13v2.029,428,778 - 9,448,648 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
activation of protein kinase B activity  (IDA)
angiogenesis  (IEA)
biomineral tissue development  (IEA)
blood vessel diameter maintenance  (IDA)
blood vessel endothelial cell proliferation involved in sprouting angiogenesis  (IDA)
cell adhesion  (IEA)
cell differentiation  (IEA)
cell migration  (TAS)
cell-matrix adhesion  (IDA)
cellular response to fibroblast growth factor stimulus  (IDA)
cellular response to vascular endothelial growth factor stimulus  (IDA)
integrin activation  (IDA,IEA,ISS)
integrin-mediated signaling pathway  (IDA,IEA)
intracellular signal transduction  (TAS)
myoblast migration  (IEA,ISS)
negative regulation of cell adhesion involved in substrate-bound cell migration  (IEA,ISS)
negative regulation of cell migration involved in sprouting angiogenesis  (IDA)
negative regulation of cell population proliferation  (IDA)
negative regulation of ERK1 and ERK2 cascade  (IDA)
negative regulation of fibroblast migration  (IEA,ISS)
negative regulation of focal adhesion assembly  (IBA,IDA,IEA)
negative regulation of protein kinase activity  (IDA)
negative regulation of protein targeting to membrane  (IDA)
negative regulation of substrate adhesion-dependent cell spreading  (IBA,IDA,IEA)
Notch signaling pathway  (IEA)
positive regulation of cell division  (IEA)
positive regulation of cell population proliferation  (IDA)
positive regulation of endothelial cell migration  (IDA)
positive regulation of focal adhesion assembly  (IEA)
positive regulation of Notch signaling pathway  (IDA)
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction  (IDA)
positive regulation of protein targeting to membrane  (IEA,ISS)
positive regulation of stress fiber assembly  (IEA,ISS)
positive regulation of transcription by RNA polymerase II  (IDA)
protein localization to plasma membrane  (IDA)
receptor clustering  (IEA,ISS)
regulation of cell adhesion mediated by integrin  (IEA,ISS)
regulation of integrin-mediated signaling pathway  (IEA,ISS)
tube formation  (IDA)

Cellular Component
cell periphery  (IBA,IDA)
cell projection  (IEA)
centriolar satellite  (IDA)
cytoplasm  (IDA,IEA)
cytoskeleton  (IBA,IEA,ISS)
cytosol  (IDA)
focal adhesion  (IDA)
lamellipodium  (IBA,IDA,IEA)
membrane  (NAS)
nuclear body  (IDA)
nucleoplasm  (IDA)
nucleus  (IDA,IEA)
perinuclear region of cytoplasm  (IDA)
plasma membrane  (IEA,ISS)
ruffle  (IBA,IDA,IEA)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Integrin inactivators: balancing cellular functions in vitro and in vivo. Bouvard D, etal., Nat Rev Mol Cell Biol. 2013 Jul;14(7):430-42. doi: 10.1038/nrm3599. Epub 2013 May 30.
2. Talins and kindlins: partners in integrin-mediated adhesion. Calderwood DA, etal., Nat Rev Mol Cell Biol. 2013 Aug;14(8):503-17. doi: 10.1038/nrm3624. Epub 2013 Jul 17.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8619474   PMID:8710854   PMID:9110174   PMID:9281591   PMID:9813144   PMID:10737800   PMID:10827173   PMID:11741838   PMID:11741908   PMID:11807099   PMID:11854171   PMID:11919189  
PMID:12473654   PMID:12477932   PMID:12878157   PMID:14702039   PMID:14759258   PMID:15166238   PMID:15489334   PMID:15703214   PMID:16341674   PMID:16344560   PMID:16741948   PMID:17133355  
PMID:17916086   PMID:18812969   PMID:19124506   PMID:20616313   PMID:21832049   PMID:21873635   PMID:21900206   PMID:22736399   PMID:23317506   PMID:23376485   PMID:23414517   PMID:23695561  
PMID:25416956   PMID:25814554   PMID:25910212   PMID:26673895   PMID:26760575   PMID:28003363   PMID:28049720   PMID:28298427   PMID:28514442   PMID:29117863   PMID:31871319   PMID:32005669  
PMID:32296183   PMID:32814053   PMID:32989298   PMID:33961781   PMID:35945219  


Genomics

Comparative Map Data
ITGB1BP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3829,403,475 - 9,423,569 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl29,403,475 - 9,423,528 (-)EnsemblGRCh38hg38GRCh38
GRCh3729,543,604 - 9,563,698 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3629,463,264 - 9,481,094 (-)NCBINCBI36Build 36hg18NCBI36
Build 3429,496,414 - 9,514,233NCBI
Celera29,457,992 - 9,475,539 (-)NCBICelera
Cytogenetic Map2p25.1NCBI
HuRef29,391,245 - 9,409,126 (-)NCBIHuRef
CHM1_129,475,472 - 9,493,078 (-)NCBICHM1_1
T2T-CHM13v2.029,428,778 - 9,448,648 (-)NCBIT2T-CHM13v2.0
Itgb1bp1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391221,317,247 - 21,336,285 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1221,290,826 - 21,336,285 (-)EnsemblGRCm39 Ensembl
GRCm381221,267,246 - 21,286,292 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1221,240,825 - 21,286,284 (-)EnsemblGRCm38mm10GRCm38
GRCm38.p6 Ensembl1221,267,420 - 21,286,284 (-)EnsemblGRCm38mm10GRCm38
MGSCv371221,275,667 - 21,292,098 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361221,516,296 - 21,532,727 (-)NCBIMGSCv36mm8
Celera1219,618,971 - 19,635,133 (+)NCBICelera
Cytogenetic Map12A1.3NCBI
cM Map128.3NCBI
Itgb1bp1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8646,549,994 - 46,564,735 (-)NCBIGRCr8
mRatBN7.2640,820,693 - 40,836,074 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl640,821,339 - 40,836,037 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx641,143,504 - 41,157,832 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0641,458,196 - 41,472,523 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0640,891,459 - 40,905,787 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0643,348,927 - 43,363,633 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl643,348,958 - 43,363,335 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0660,216,633 - 60,231,381 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4641,830,110 - 41,844,514 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1641,833,498 - 41,847,916 (-)NCBI
Celera640,108,431 - 40,122,817 (-)NCBICelera
Cytogenetic Map6q16NCBI
Itgb1bp1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554875,134,135 - 5,146,449 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554875,134,135 - 5,146,449 (-)NCBIChiLan1.0ChiLan1.0
ITGB1BP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v212117,103,099 - 117,119,941 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12A117,107,072 - 117,123,914 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02A9,396,553 - 9,413,408 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12A9,559,416 - 9,576,899 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A9,556,857 - 9,577,155 (-)Ensemblpanpan1.1panPan2
ITGB1BP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1176,524,602 - 6,537,321 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl176,524,613 - 6,537,233 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha176,452,429 - 6,465,110 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0176,623,442 - 6,636,129 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl176,623,416 - 6,636,121 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1176,515,976 - 6,528,650 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0176,518,396 - 6,531,054 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0176,531,756 - 6,544,438 (-)NCBIUU_Cfam_GSD_1.0
Itgb1bp1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629251,047,715 - 51,059,189 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365325,799,342 - 5,814,199 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365325,802,761 - 5,814,226 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ITGB1BP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl3126,905,810 - 126,922,045 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.13126,905,779 - 126,921,961 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.23135,174,258 - 135,295,240 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ITGB1BP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11498,226,666 - 98,244,094 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1498,230,100 - 98,248,862 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604514,079,143 - 14,096,391 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Itgb1bp1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624969290,570 - 301,189 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624969290,601 - 307,152 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ITGB1BP1
9 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2p25.3-24.3(chr2:30141-14494040)x3 copy number gain See cases [RCV000052928] Chr2:30141..14494040 [GRCh38]
Chr2:30141..14634164 [GRCh37]
Chr2:20141..14551615 [NCBI36]
Chr2:2p25.3-24.3		 pathogenic
GRCh38/hg38 2p25.3-23.1(chr2:30141-31766749)x3 copy number gain See cases [RCV000052929] Chr2:30141..31766749 [GRCh38]
Chr2:30141..31991818 [GRCh37]
Chr2:20141..31845322 [NCBI36]
Chr2:2p25.3-23.1		 pathogenic
GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3 copy number gain See cases [RCV000052931] Chr2:30342..14866951 [GRCh38]
Chr2:30342..15007075 [GRCh37]
Chr2:20342..14924526 [NCBI36]
Chr2:2p25.3-24.3		 pathogenic
GRCh38/hg38 2p25.3-25.1(chr2:50661-9652907)x3 copy number gain See cases [RCV000052932] Chr2:50661..9652907 [GRCh38]
Chr2:50661..9793036 [GRCh37]
Chr2:40661..9710487 [NCBI36]
Chr2:2p25.3-25.1		 pathogenic
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 copy number gain See cases [RCV000052933] Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1		 pathogenic
GRCh38/hg38 2p25.2-24.3(chr2:6531172-16103799)x1 copy number loss See cases [RCV000053978] Chr2:6531172..16103799 [GRCh38]
Chr2:6671304..16243921 [GRCh37]
Chr2:6588755..16161372 [NCBI36]
Chr2:2p25.2-24.3		 pathogenic
NM_004763.3(ITGB1BP1):c.52G>A (p.Glu18Lys) single nucleotide variant Malignant melanoma [RCV000065717] Chr2:9418646 [GRCh38]
Chr2:9558775 [GRCh37]
Chr2:9476226 [NCBI36]
Chr2:2p25.1		 not provided
GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3 copy number gain See cases [RCV000135398] Chr2:30341..28419664 [GRCh38]
Chr2:30341..28642531 [GRCh37]
Chr2:20341..28496035 [NCBI36]
Chr2:2p25.3-23.2		 pathogenic
GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3 copy number gain See cases [RCV000137344] Chr2:17019..26318846 [GRCh38]
Chr2:17019..26541714 [GRCh37]
Chr2:7019..26395218 [NCBI36]
Chr2:2p25.3-23.3		 pathogenic
GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3 copy number gain See cases [RCV000137913] Chr2:1664615..23664142 [GRCh38]
Chr2:1668387..23887012 [GRCh37]
Chr2:1647394..23740517 [NCBI36]
Chr2:2p25.3-24.1		 pathogenic|likely pathogenic
GRCh38/hg38 2p25.1(chr2:8397352-9440634)x4 copy number gain See cases [RCV000139899] Chr2:8397352..9440634 [GRCh38]
Chr2:8537482..9580763 [GRCh37]
Chr2:8454933..9498214 [NCBI36]
Chr2:2p25.1		 uncertain significance
GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3 copy number gain See cases [RCV000141226] Chr2:17019..20001056 [GRCh38]
Chr2:17019..20200817 [GRCh37]
Chr2:7019..20064298 [NCBI36]
Chr2:2p25.3-24.1		 pathogenic
GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3 copy number gain See cases [RCV000141877] Chr2:12770..25039694 [GRCh38]
Chr2:12770..25262563 [GRCh37]
Chr2:2770..25116067 [NCBI36]
Chr2:2p25.3-23.3		 pathogenic
GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3 copy number gain See cases [RCV000141829] Chr2:12770..33711509 [GRCh38]
Chr2:12770..33936576 [GRCh37]
Chr2:2770..33790080 [NCBI36]
Chr2:2p25.3-22.3		 pathogenic
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2		 benign
GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3 copy number gain See cases [RCV000143682] Chr2:236816..45983232 [GRCh38]
Chr2:236816..46210371 [GRCh37]
Chr2:226816..46063875 [NCBI36]
Chr2:2p25.3-21		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-24.1(chr2:12770-20081474)x3 copy number gain See cases [RCV000510934] Chr2:12770..20081474 [GRCh37]
Chr2:2p25.3-24.1		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_004763.5(ITGB1BP1):c.577T>A (p.Ser193Thr) single nucleotide variant not specified [RCV004313583] Chr2:9406860 [GRCh38]
Chr2:9546989 [GRCh37]
Chr2:2p25.1		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.1-24.3(chr2:8935077-15722794)x1 copy number loss not provided [RCV001836520] Chr2:8935077..15722794 [GRCh37]
Chr2:2p25.1-24.3		 uncertain significance
NC_000002.11:g.(?_7968276)_(10192634_?)del deletion not provided [RCV003109738] Chr2:7968276..10192634 [GRCh37]
Chr2:2p25.1		 pathogenic
NC_000002.11:g.(?_7968276)_(10192634_?)dup duplication not provided [RCV003109740] Chr2:7968276..10192634 [GRCh37]
Chr2:2p25.1		 uncertain significance
GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3 copy number gain not provided [RCV002473946] Chr2:706460..35523639 [GRCh37]
Chr2:2p25.3-22.3		 pathogenic
NM_004763.5(ITGB1BP1):c.449C>T (p.Ala150Val) single nucleotide variant not specified [RCV004170791] Chr2:9407531 [GRCh38]
Chr2:9547660 [GRCh37]
Chr2:2p25.1		 uncertain significance
NM_004763.5(ITGB1BP1):c.191G>A (p.Arg64Gln) single nucleotide variant not specified [RCV004200381] Chr2:9412366 [GRCh38]
Chr2:9552495 [GRCh37]
Chr2:2p25.1		 uncertain significance
NM_004763.5(ITGB1BP1):c.343T>C (p.Ser115Pro) single nucleotide variant not specified [RCV004109780] Chr2:9408151 [GRCh38]
Chr2:9548280 [GRCh37]
Chr2:2p25.1		 uncertain significance
NM_004763.5(ITGB1BP1):c.565A>G (p.Thr189Ala) single nucleotide variant not specified [RCV004142406] Chr2:9406872 [GRCh38]
Chr2:9547001 [GRCh37]
Chr2:2p25.1		 uncertain significance
NM_004763.5(ITGB1BP1):c.382G>T (p.Asp128Tyr) single nucleotide variant not specified [RCV004313313] Chr2:9407598 [GRCh38]
Chr2:9547727 [GRCh37]
Chr2:2p25.1		 uncertain significance
GRCh37/hg19 2p25.2-24.1(chr2:6375088-23538518)x3 copy number gain not specified [RCV003986320] Chr2:6375088..23538518 [GRCh37]
Chr2:2p25.2-24.1		 pathogenic
GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3 copy number gain See cases [RCV004442780] Chr2:12771..35541353 [GRCh37]
Chr2:2p25.3-22.3		 pathogenic
NM_004763.5(ITGB1BP1):c.577T>C (p.Ser193Pro) single nucleotide variant not specified [RCV004405798] Chr2:9406860 [GRCh38]
Chr2:9546989 [GRCh37]
Chr2:2p25.1		 uncertain significance
NM_004763.5(ITGB1BP1):c.590C>G (p.Ser197Cys) single nucleotide variant not specified [RCV004633452] Chr2:9406847 [GRCh38]
Chr2:9546976 [GRCh37]
Chr2:2p25.1		 uncertain significance
NM_004763.5(ITGB1BP1):c.346A>C (p.Lys116Gln) single nucleotide variant not specified [RCV004626485] Chr2:9408148 [GRCh38]
Chr2:9548277 [GRCh37]
Chr2:2p25.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5450
Count of miRNA genes:1126
Interacting mature miRNAs:1390
Transcripts:ENST00000238091, ENST00000355346, ENST00000359712, ENST00000360635, ENST00000456913, ENST00000460001, ENST00000460720, ENST00000463190, ENST00000464228, ENST00000465527, ENST00000467606, ENST00000470507, ENST00000482798, ENST00000483795, ENST00000484735, ENST00000488451, ENST00000490426, ENST00000492079, ENST00000494563, ENST00000497031, ENST00000497105
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407199617GWAS848593_HAlzheimer disease QTL GWAS848593 (human)5e-08Alzheimer disease294096249409625Human
406926052GWAS575028_Hbody height QTL GWAS575028 (human)1e-20body height (VT:0001253)body height (CMO:0000106)294141269414127Human

Markers in Region
RH78234  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3729,562,942 - 9,563,100UniSTSGRCh37
Build 3629,480,393 - 9,480,551RGDNCBI36
Celera29,474,840 - 9,474,998RGD
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map2p25.2UniSTS
HuRef29,408,427 - 9,408,585UniSTS
SHGC-30375  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3729,546,807 - 9,546,914UniSTSGRCh37
Build 3629,464,258 - 9,464,365RGDNCBI36
Celera29,458,706 - 9,458,813RGD
Cytogenetic Map2p25.2UniSTS
HuRef29,392,291 - 9,392,398UniSTS
TNG Radiation Hybrid Map26470.0UniSTS
Stanford-G3 RH Map2317.0UniSTS
NCBI RH Map238.8UniSTS
GeneMap99-G3 RH Map2312.0UniSTS
D2S1665E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3729,545,564 - 9,545,663UniSTSGRCh37
Build 3629,463,015 - 9,463,114RGDNCBI36
Celera29,457,743 - 9,457,842RGD
Cytogenetic Map2p24UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map2p25UniSTS
HuRef29,390,996 - 9,391,095UniSTS
GeneMap99-GB4 RH Map237.91UniSTS
RH78071  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3729,546,888 - 9,547,015UniSTSGRCh37
Build 3629,464,339 - 9,464,466RGDNCBI36
Celera29,458,787 - 9,458,914RGD
Cytogenetic Map2p25.2UniSTS
HuRef29,392,372 - 9,392,499UniSTS
NCBI RH Map229.9UniSTS
RH16639  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3729,545,545 - 9,545,778UniSTSGRCh37
Build 3629,462,996 - 9,463,229RGDNCBI36
Celera29,457,724 - 9,457,957RGD
Cytogenetic Map2p24UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map2p25UniSTS
HuRef29,390,977 - 9,391,210UniSTS
GeneMap99-GB4 RH Map237.91UniSTS
STS-N29464  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3729,546,823 - 9,547,035UniSTSGRCh37
Build 3629,464,274 - 9,464,486RGDNCBI36
Celera29,458,722 - 9,458,934RGD
Cytogenetic Map2p25.2UniSTS
HuRef29,392,307 - 9,392,519UniSTS
RH98873  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3729,547,619 - 9,548,287UniSTSGRCh37
Celera29,459,518 - 9,460,186UniSTS
Cytogenetic Map2p25.2UniSTS
HuRef29,393,103 - 9,393,772UniSTS
GeneMap99-GB4 RH Map237.86UniSTS
SHGC-64269  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2p25.2UniSTS
TNG Radiation Hybrid Map26529.0UniSTS


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 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001319066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001319067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001319068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001319069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001319070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_022334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_134951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_134952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_134953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_134954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_134955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_134956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_134957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006711903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC080162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF012023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF012024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI144519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI336197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU280516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE146261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG032225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM823938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ421551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ425555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU520903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BY996754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA428076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CT002942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA087859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA751320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB167886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC321859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC361372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000238091   ⟹   ENSP00000238091
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl29,405,684 - 9,423,506 (-)Ensembl
Ensembl Acc Id: ENST00000355346   ⟹   ENSP00000347504
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl29,403,475 - 9,423,528 (-)Ensembl
Ensembl Acc Id: ENST00000359712   ⟹   ENSP00000352743
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl29,406,661 - 9,423,250 (-)Ensembl
Ensembl Acc Id: ENST00000360635   ⟹   ENSP00000353850
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl29,403,475 - 9,423,229 (-)Ensembl
Ensembl Acc Id: ENST00000456913   ⟹   ENSP00000389704
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl29,407,030 - 9,423,430 (-)Ensembl
Ensembl Acc Id: ENST00000460001   ⟹   ENSP00000417850
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl29,412,304 - 9,423,176 (-)Ensembl
Ensembl Acc Id: ENST00000460720
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl29,406,661 - 9,408,299 (-)Ensembl
Ensembl Acc Id: ENST00000463190
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl29,408,002 - 9,423,522 (-)Ensembl
Ensembl Acc Id: ENST00000464228   ⟹   ENSP00000419452
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl29,406,660 - 9,423,500 (-)Ensembl
Ensembl Acc Id: ENST00000465527
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl29,406,661 - 9,412,717 (-)Ensembl
Ensembl Acc Id: ENST00000467606   ⟹   ENSP00000419814
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl29,412,269 - 9,423,087 (-)Ensembl
Ensembl Acc Id: ENST00000470507
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl29,406,814 - 9,408,404 (-)Ensembl
Ensembl Acc Id: ENST00000482798
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl29,407,543 - 9,422,566 (-)Ensembl
Ensembl Acc Id: ENST00000483795   ⟹   ENSP00000433814
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl29,405,694 - 9,423,456 (-)Ensembl
Ensembl Acc Id: ENST00000484735   ⟹   ENSP00000418526
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl29,412,297 - 9,423,340 (-)Ensembl
Ensembl Acc Id: ENST00000488451   ⟹   ENSP00000419524
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl29,406,667 - 9,423,480 (-)Ensembl
Ensembl Acc Id: ENST00000490426
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl29,406,349 - 9,423,462 (-)Ensembl
Ensembl Acc Id: ENST00000492079   ⟹   ENSP00000420770
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl29,407,572 - 9,420,294 (-)Ensembl
Ensembl Acc Id: ENST00000494563   ⟹   ENSP00000417940
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl29,408,152 - 9,423,176 (-)Ensembl
Ensembl Acc Id: ENST00000497031
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl29,406,648 - 9,423,444 (-)Ensembl
Ensembl Acc Id: ENST00000497105   ⟹   ENSP00000418947
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl29,412,360 - 9,423,228 (-)Ensembl
RefSeq Acc Id: NM_001319066   ⟹   NP_001305995
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3829,403,475 - 9,423,178 (-)NCBI
CHM1_129,475,469 - 9,492,740 (-)NCBI
T2T-CHM13v2.029,428,778 - 9,448,259 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001319067   ⟹   NP_001305996
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3829,403,475 - 9,423,178 (-)NCBI
CHM1_129,475,469 - 9,492,740 (-)NCBI
T2T-CHM13v2.029,428,778 - 9,448,259 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001319068   ⟹   NP_001305997
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3829,403,475 - 9,422,591 (-)NCBI
CHM1_129,475,469 - 9,492,224 (-)NCBI
T2T-CHM13v2.029,428,778 - 9,447,672 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001319069   ⟹   NP_001305998
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3829,403,475 - 9,423,528 (-)NCBI
CHM1_129,475,469 - 9,493,133 (-)NCBI
T2T-CHM13v2.029,428,778 - 9,448,607 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001319070   ⟹   NP_001305999
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3829,403,475 - 9,423,528 (-)NCBI
CHM1_129,475,469 - 9,493,133 (-)NCBI
T2T-CHM13v2.029,428,778 - 9,448,607 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369744   ⟹   NP_001356673
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3829,405,681 - 9,422,660 (-)NCBI
T2T-CHM13v2.029,430,984 - 9,447,741 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369745   ⟹   NP_001356674
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3829,405,681 - 9,423,176 (-)NCBI
T2T-CHM13v2.029,430,984 - 9,448,257 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369746   ⟹   NP_001356675
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3829,405,681 - 9,423,569 (-)NCBI
T2T-CHM13v2.029,430,984 - 9,448,648 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369747   ⟹   NP_001356676
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3829,405,681 - 9,422,660 (-)NCBI
T2T-CHM13v2.029,430,984 - 9,447,741 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369748   ⟹   NP_001356677
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3829,405,681 - 9,423,176 (-)NCBI
T2T-CHM13v2.029,430,984 - 9,448,257 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369749   ⟹   NP_001356678
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3829,403,475 - 9,423,528 (-)NCBI
T2T-CHM13v2.029,428,778 - 9,448,607 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369750   ⟹   NP_001356679
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3829,405,681 - 9,422,660 (-)NCBI
T2T-CHM13v2.029,430,984 - 9,447,741 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004763   ⟹   NP_004754
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3829,403,475 - 9,423,528 (-)NCBI
GRCh3729,545,810 - 9,563,698 (-)NCBI
Build 3629,463,264 - 9,481,094 (-)NCBI Archive
HuRef29,391,245 - 9,409,126 (-)ENTREZGENE
CHM1_129,475,469 - 9,493,133 (-)NCBI
T2T-CHM13v2.029,428,778 - 9,448,607 (-)NCBI
Sequence:
RefSeq Acc Id: NM_022334   ⟹   NP_071729
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3829,403,475 - 9,423,528 (-)NCBI
GRCh3729,545,810 - 9,563,698 (-)NCBI
Build 3629,463,264 - 9,481,094 (-)NCBI Archive
HuRef29,391,245 - 9,409,126 (-)ENTREZGENE
CHM1_129,475,469 - 9,493,133 (-)NCBI
T2T-CHM13v2.029,428,778 - 9,448,607 (-)NCBI
Sequence:
RefSeq Acc Id: NR_134951
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3829,403,475 - 9,422,591 (-)NCBI
CHM1_129,475,469 - 9,492,224 (-)NCBI
T2T-CHM13v2.029,428,778 - 9,447,672 (-)NCBI
Sequence:
RefSeq Acc Id: NR_134952
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3829,403,475 - 9,423,528 (-)NCBI
CHM1_129,475,469 - 9,493,133 (-)NCBI
T2T-CHM13v2.029,428,778 - 9,448,607 (-)NCBI
Sequence:
RefSeq Acc Id: NR_134953
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3829,403,475 - 9,423,528 (-)NCBI
CHM1_129,475,469 - 9,493,133 (-)NCBI
T2T-CHM13v2.029,428,778 - 9,448,607 (-)NCBI
Sequence:
RefSeq Acc Id: NR_134954
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3829,403,475 - 9,423,528 (-)NCBI
CHM1_129,475,469 - 9,493,133 (-)NCBI
T2T-CHM13v2.029,428,778 - 9,448,607 (-)NCBI
Sequence:
RefSeq Acc Id: NR_134955
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3829,403,475 - 9,423,528 (-)NCBI
CHM1_129,475,469 - 9,493,133 (-)NCBI
T2T-CHM13v2.029,428,778 - 9,448,607 (-)NCBI
Sequence:
RefSeq Acc Id: NR_134956
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3829,403,475 - 9,423,528 (-)NCBI
CHM1_129,475,469 - 9,493,133 (-)NCBI
T2T-CHM13v2.029,428,778 - 9,448,607 (-)NCBI
Sequence:
RefSeq Acc Id: NR_134957
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3829,403,475 - 9,423,528 (-)NCBI
CHM1_129,475,469 - 9,493,133 (-)NCBI
T2T-CHM13v2.029,428,778 - 9,448,607 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006711903   ⟹   XP_006711966
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3829,403,475 - 9,423,176 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017005267   ⟹   XP_016860756
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3829,403,475 - 9,422,660 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017005270   ⟹   XP_016860759
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3829,403,475 - 9,422,660 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047446336   ⟹   XP_047302292
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3829,403,475 - 9,423,176 (-)NCBI
RefSeq Acc Id: XM_047446337   ⟹   XP_047302293
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3829,403,475 - 9,423,176 (-)NCBI
RefSeq Acc Id: XM_047446338   ⟹   XP_047302294
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3829,403,475 - 9,423,178 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001305995 (Get FASTA)   NCBI Sequence Viewer  
  NP_001305996 (Get FASTA)   NCBI Sequence Viewer  
  NP_001305997 (Get FASTA)   NCBI Sequence Viewer  
  NP_001305998 (Get FASTA)   NCBI Sequence Viewer  
  NP_001305999 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356673 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356674 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356675 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356676 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356677 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356678 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356679 (Get FASTA)   NCBI Sequence Viewer  
  NP_004754 (Get FASTA)   NCBI Sequence Viewer  
  NP_071729 (Get FASTA)   NCBI Sequence Viewer  
  XP_006711966 (Get FASTA)   NCBI Sequence Viewer  
  XP_016860756 (Get FASTA)   NCBI Sequence Viewer  
  XP_016860759 (Get FASTA)   NCBI Sequence Viewer  
  XP_047302292 (Get FASTA)   NCBI Sequence Viewer  
  XP_047302293 (Get FASTA)   NCBI Sequence Viewer  
  XP_047302294 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB88671 (Get FASTA)   NCBI Sequence Viewer  
  AAB88672 (Get FASTA)   NCBI Sequence Viewer  
  AAH12264 (Get FASTA)   NCBI Sequence Viewer  
  AAY14857 (Get FASTA)   NCBI Sequence Viewer  
  BAF82506 (Get FASTA)   NCBI Sequence Viewer  
  BAG61097 (Get FASTA)   NCBI Sequence Viewer  
  CAG33287 (Get FASTA)   NCBI Sequence Viewer  
  EAX00991 (Get FASTA)   NCBI Sequence Viewer  
  EAX00992 (Get FASTA)   NCBI Sequence Viewer  
  EAX00993 (Get FASTA)   NCBI Sequence Viewer  
  EAX00994 (Get FASTA)   NCBI Sequence Viewer  
  EAX00995 (Get FASTA)   NCBI Sequence Viewer  
  EAX00996 (Get FASTA)   NCBI Sequence Viewer  
  EAX00997 (Get FASTA)   NCBI Sequence Viewer  
  EAX00998 (Get FASTA)   NCBI Sequence Viewer  
  EAX00999 (Get FASTA)   NCBI Sequence Viewer  
  EAX01000 (Get FASTA)   NCBI Sequence Viewer  
  EAX01001 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000238091
  ENSP00000238091.4
  ENSP00000347504
  ENSP00000347504.4
  ENSP00000352743.3
  ENSP00000353850
  ENSP00000353850.3
  ENSP00000389704.2
  ENSP00000417850.1
  ENSP00000417940.1
  ENSP00000418526.1
  ENSP00000418947.1
  ENSP00000419452.1
  ENSP00000419524
  ENSP00000419524.1
  ENSP00000419814.1
  ENSP00000420770.1
  ENSP00000433814.1
GenBank Protein O14713 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_071729   ⟸   NM_022334
- Peptide Label: isoform 2
- UniProtKB: C9JBU8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_004754   ⟸   NM_004763
- Peptide Label: isoform 1
- UniProtKB: O14714 (UniProtKB/Swiss-Prot),   D6W4Y9 (UniProtKB/Swiss-Prot),   Q53RS0 (UniProtKB/Swiss-Prot),   O14713 (UniProtKB/Swiss-Prot),   A8K1A2 (UniProtKB/TrEMBL),   Q6IAZ8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006711966   ⟸   XM_006711903
- Peptide Label: isoform X1
- UniProtKB: O14714 (UniProtKB/Swiss-Prot),   D6W4Y9 (UniProtKB/Swiss-Prot),   Q53RS0 (UniProtKB/Swiss-Prot),   O14713 (UniProtKB/Swiss-Prot),   A8K1A2 (UniProtKB/TrEMBL),   Q6IAZ8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001305998   ⟸   NM_001319069
- Peptide Label: isoform 3
- UniProtKB: B4DQY5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001305999   ⟸   NM_001319070
- Peptide Label: isoform 4
- Sequence:
RefSeq Acc Id: NP_001305996   ⟸   NM_001319067
- Peptide Label: isoform 1
- UniProtKB: O14714 (UniProtKB/Swiss-Prot),   D6W4Y9 (UniProtKB/Swiss-Prot),   Q53RS0 (UniProtKB/Swiss-Prot),   O14713 (UniProtKB/Swiss-Prot),   A8K1A2 (UniProtKB/TrEMBL),   Q6IAZ8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001305995   ⟸   NM_001319066
- Peptide Label: isoform 1
- UniProtKB: O14714 (UniProtKB/Swiss-Prot),   D6W4Y9 (UniProtKB/Swiss-Prot),   Q53RS0 (UniProtKB/Swiss-Prot),   O14713 (UniProtKB/Swiss-Prot),   A8K1A2 (UniProtKB/TrEMBL),   Q6IAZ8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001305997   ⟸   NM_001319068
- Peptide Label: isoform 1
- UniProtKB: O14714 (UniProtKB/Swiss-Prot),   D6W4Y9 (UniProtKB/Swiss-Prot),   Q53RS0 (UniProtKB/Swiss-Prot),   O14713 (UniProtKB/Swiss-Prot),   A8K1A2 (UniProtKB/TrEMBL),   Q6IAZ8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016860756   ⟸   XM_017005267
- Peptide Label: isoform X1
- UniProtKB: O14714 (UniProtKB/Swiss-Prot),   D6W4Y9 (UniProtKB/Swiss-Prot),   Q53RS0 (UniProtKB/Swiss-Prot),   O14713 (UniProtKB/Swiss-Prot),   A8K1A2 (UniProtKB/TrEMBL),   Q6IAZ8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016860759   ⟸   XM_017005270
- Peptide Label: isoform X2
- UniProtKB: C9JBU8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001356678   ⟸   NM_001369749
- Peptide Label: isoform 1
- UniProtKB: O14714 (UniProtKB/Swiss-Prot),   O14713 (UniProtKB/Swiss-Prot),   D6W4Y9 (UniProtKB/Swiss-Prot),   Q53RS0 (UniProtKB/Swiss-Prot),   A8K1A2 (UniProtKB/TrEMBL),   Q6IAZ8 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001356675   ⟸   NM_001369746
- Peptide Label: isoform 1
- UniProtKB: O14714 (UniProtKB/Swiss-Prot),   O14713 (UniProtKB/Swiss-Prot),   D6W4Y9 (UniProtKB/Swiss-Prot),   Q53RS0 (UniProtKB/Swiss-Prot),   A8K1A2 (UniProtKB/TrEMBL),   Q6IAZ8 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001356674   ⟸   NM_001369745
- Peptide Label: isoform 1
- UniProtKB: O14714 (UniProtKB/Swiss-Prot),   O14713 (UniProtKB/Swiss-Prot),   D6W4Y9 (UniProtKB/Swiss-Prot),   Q53RS0 (UniProtKB/Swiss-Prot),   A8K1A2 (UniProtKB/TrEMBL),   Q6IAZ8 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001356677   ⟸   NM_001369748
- Peptide Label: isoform 1
- UniProtKB: O14714 (UniProtKB/Swiss-Prot),   O14713 (UniProtKB/Swiss-Prot),   D6W4Y9 (UniProtKB/Swiss-Prot),   Q53RS0 (UniProtKB/Swiss-Prot),   A8K1A2 (UniProtKB/TrEMBL),   Q6IAZ8 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001356679   ⟸   NM_001369750
- Peptide Label: isoform 2
- UniProtKB: C9JBU8 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001356676   ⟸   NM_001369747
- Peptide Label: isoform 2
- UniProtKB: C9JBU8 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001356673   ⟸   NM_001369744
- Peptide Label: isoform 1
- UniProtKB: O14714 (UniProtKB/Swiss-Prot),   O14713 (UniProtKB/Swiss-Prot),   D6W4Y9 (UniProtKB/Swiss-Prot),   Q53RS0 (UniProtKB/Swiss-Prot),   A8K1A2 (UniProtKB/TrEMBL),   Q6IAZ8 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000352743   ⟸   ENST00000359712
Ensembl Acc Id: ENSP00000419452   ⟸   ENST00000464228
Ensembl Acc Id: ENSP00000420770   ⟸   ENST00000492079
Ensembl Acc Id: ENSP00000353850   ⟸   ENST00000360635
Ensembl Acc Id: ENSP00000419814   ⟸   ENST00000467606
Ensembl Acc Id: ENSP00000417940   ⟸   ENST00000494563
Ensembl Acc Id: ENSP00000389704   ⟸   ENST00000456913
Ensembl Acc Id: ENSP00000418947   ⟸   ENST00000497105
Ensembl Acc Id: ENSP00000433814   ⟸   ENST00000483795
Ensembl Acc Id: ENSP00000418526   ⟸   ENST00000484735
Ensembl Acc Id: ENSP00000347504   ⟸   ENST00000355346
Ensembl Acc Id: ENSP00000238091   ⟸   ENST00000238091
Ensembl Acc Id: ENSP00000419524   ⟸   ENST00000488451
Ensembl Acc Id: ENSP00000417850   ⟸   ENST00000460001
RefSeq Acc Id: XP_047302294   ⟸   XM_047446338
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047302293   ⟸   XM_047446337
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047302292   ⟸   XM_047446336
- Peptide Label: isoform X2
Protein Domains
PID

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O14713-F1-model_v2 AlphaFold O14713 1-200 view protein structure

Promoters
RGD ID:6859588
Promoter ID:EPDNEW_H2959
Type:initiation region
Name:ITGB1BP1_1
Description:integrin subunit beta 1 binding protein 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
GRCh3829,423,456 - 9,423,516EPDNEW
RGD ID:6797219
Promoter ID:HG_KWN:31466
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour
Transcripts:ENST00000360635
Position:
Human AssemblyChrPosition (strand)Source
Build 3629,480,084 - 9,480,584 (-)MPROMDB
RGD ID:6797693
Promoter ID:HG_KWN:31467
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:ENST00000359712,   OTTHUMT00000206841,   OTTHUMT00000206842,   OTTHUMT00000206843,   UC002QZL.1,   UC002QZM.1,   UC002QZP.1,   UC010EWX.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3629,480,931 - 9,483,032 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23927 AgrOrtholog
COSMIC ITGB1BP1 COSMIC
Ensembl Genes ENSG00000119185 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000238091 ENTREZGENE
  ENST00000238091.8 UniProtKB/Swiss-Prot
  ENST00000355346 ENTREZGENE
  ENST00000355346.9 UniProtKB/Swiss-Prot
  ENST00000359712.7 UniProtKB/TrEMBL
  ENST00000360635 ENTREZGENE
  ENST00000360635.7 UniProtKB/Swiss-Prot
  ENST00000456913.6 UniProtKB/TrEMBL
  ENST00000460001.5 UniProtKB/TrEMBL
  ENST00000464228.5 UniProtKB/TrEMBL
  ENST00000467606.5 UniProtKB/TrEMBL
  ENST00000483795.5 UniProtKB/TrEMBL
  ENST00000484735.5 UniProtKB/TrEMBL
  ENST00000488451 ENTREZGENE
  ENST00000488451.5 UniProtKB/Swiss-Prot
  ENST00000492079.5 UniProtKB/TrEMBL
  ENST00000494563.5 UniProtKB/TrEMBL
  ENST00000497105.1 UniProtKB/TrEMBL
Gene3D-CATH 2.30.29.30 UniProtKB/TrEMBL
  6.20.360.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000119185 GTEx
HGNC ID HGNC:23927 ENTREZGENE
Human Proteome Map ITGB1BP1 Human Proteome Map
InterPro Integrin-bd_ICAP-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH-like_dom_sf UniProtKB/TrEMBL
  PTB/PI_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9270 UniProtKB/Swiss-Prot
NCBI Gene 9270 ENTREZGENE
OMIM 607153 OMIM
PANTHER INTEGRIN BETA-1-BINDING PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR32055 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ICAP-1_inte_bdg UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134913590 PharmGKB
SMART PTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP PH domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K1A2 ENTREZGENE, UniProtKB/TrEMBL
  A8MPU2_HUMAN UniProtKB/TrEMBL
  B4DQY5 ENTREZGENE, UniProtKB/TrEMBL
  C9IZZ8_HUMAN UniProtKB/TrEMBL
  C9J0J6_HUMAN UniProtKB/TrEMBL
  C9J5T5_HUMAN UniProtKB/TrEMBL
  C9J6Y2_HUMAN UniProtKB/TrEMBL
  C9JBU8 ENTREZGENE, UniProtKB/TrEMBL
  C9JZ07_HUMAN UniProtKB/TrEMBL
  D6W4Y9 ENTREZGENE
  F8WF20_HUMAN UniProtKB/TrEMBL
  G3V1A3_HUMAN UniProtKB/TrEMBL
  ITBP1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  O14714 ENTREZGENE
  Q53RS0 ENTREZGENE
  Q6IAZ8 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary D6W4Y9 UniProtKB/Swiss-Prot
  O14714 UniProtKB/Swiss-Prot
  Q53RS0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-22 ITGB1BP1  integrin subunit beta 1 binding protein 1  ITGB1BP1  integrin beta 1 binding protein 1  Symbol and/or name change 5135510 APPROVED