BRINP2 (BMP/retinoic acid inducible neural specific 2) - Rat Genome Database

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Gene: BRINP2 (BMP/retinoic acid inducible neural specific 2) Homo sapiens
Analyze
Symbol: BRINP2
Name: BMP/retinoic acid inducible neural specific 2
RGD ID: 1605645
HGNC Page HGNC:13746
Description: Predicted to be involved in cellular response to retinoic acid; negative regulation of mitotic cell cycle; and nervous system development. Predicted to be located in extracellular region. Predicted to be active in cytoplasm; dendrite; and neuronal cell body. Implicated in oral squamous cell carcinoma.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: BMP/retinoic acid-inducible neural-specific protein 2; bone morphogenetic protein/retinoic acid inducible neural-specific 2; bone morphogenic protein/retinoic acid inducible neural-specific 2; DBCCR1-like protein 2; DBCCR1-like2; DBCCR1L2; FAM5B; family with sequence similarity 5, member B; FLJ41342; KIAA1747; RP5-1026E2.1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381177,170,958 - 177,282,422 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1177,170,958 - 177,282,422 (+)EnsemblGRCh38hg38GRCh38
GRCh371177,140,094 - 177,251,558 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361175,407,256 - 175,518,181 (+)NCBINCBI36Build 36hg18NCBI36
Celera1150,250,704 - 150,361,628 (+)NCBICelera
Cytogenetic Map1q25.2NCBI
HuRef1148,367,642 - 148,478,577 (+)NCBIHuRef
CHM1_11178,564,624 - 178,675,569 (+)NCBICHM1_1
T2T-CHM13v2.01176,525,633 - 176,637,111 (+)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

Cellular Component
cytoplasm  (IBA,IEA)
dendrite  (IBA,IEA,ISO)
extracellular region  (IEA)
neuronal cell body  (IBA,IEA,ISO)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Genetic alterations in oral squamous cell carcinoma progression detected by combining array-based comparative genomic hybridization and multiplex ligation-dependent probe amplification. Cha JD, etal., Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2011 May;111(5):594-607. doi: 10.1016/j.tripleo.2010.11.020. Epub 2011 Feb 22.
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8619474   PMID:9110174   PMID:11214970   PMID:12477932   PMID:14702039   PMID:15193423   PMID:15489334   PMID:16344560   PMID:16710414   PMID:18187620   PMID:21873635   PMID:28514442  
PMID:33961781  


Genomics

Comparative Map Data
BRINP2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381177,170,958 - 177,282,422 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1177,170,958 - 177,282,422 (+)EnsemblGRCh38hg38GRCh38
GRCh371177,140,094 - 177,251,558 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361175,407,256 - 175,518,181 (+)NCBINCBI36Build 36hg18NCBI36
Celera1150,250,704 - 150,361,628 (+)NCBICelera
Cytogenetic Map1q25.2NCBI
HuRef1148,367,642 - 148,478,577 (+)NCBIHuRef
CHM1_11178,564,624 - 178,675,569 (+)NCBICHM1_1
T2T-CHM13v2.01176,525,633 - 176,637,111 (+)NCBIT2T-CHM13v2.0
Brinp2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391158,072,835 - 158,185,096 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1158,072,839 - 158,183,896 (-)EnsemblGRCm39 Ensembl
GRCm381158,245,265 - 158,356,528 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1158,245,269 - 158,356,326 (-)EnsemblGRCm38mm10GRCm38
MGSCv371160,175,400 - 160,286,391 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361160,081,948 - 160,193,003 (-)NCBIMGSCv36mm8
Celera1160,640,225 - 160,749,398 (-)NCBICelera
Cytogenetic Map1H1NCBI
cM Map168.27NCBI
Brinp2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81372,964,498 - 73,065,312 (-)NCBIGRCr8
mRatBN7.21370,431,006 - 70,532,766 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1370,431,010 - 70,531,810 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1373,009,747 - 73,110,601 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01374,307,588 - 74,408,329 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01371,567,679 - 71,668,362 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01375,948,679 - 76,049,363 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1375,948,679 - 76,049,363 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01380,863,780 - 80,964,493 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41373,541,992 - 73,644,517 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11373,556,179 - 73,658,705 (-)NCBI
Celera1370,246,465 - 70,347,212 (-)NCBICelera
Cytogenetic Map13q22NCBI
Brinp2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540616,748,824 - 16,844,093 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540616,748,824 - 16,840,924 (+)NCBIChiLan1.0ChiLan1.0
BRINP2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2172,437,118 - 72,547,910 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1172,107,317 - 72,218,106 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01152,694,667 - 152,806,085 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11156,391,436 - 156,502,742 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1156,450,411 - 156,502,742 (+)Ensemblpanpan1.1panPan2
BRINP2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1722,332,465 - 22,449,295 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl722,339,056 - 22,448,854 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha721,865,088 - 21,973,700 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0722,086,726 - 22,195,881 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl722,072,721 - 22,195,861 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1721,992,092 - 22,101,532 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0722,092,409 - 22,201,467 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0722,235,542 - 22,344,318 (-)NCBIUU_Cfam_GSD_1.0
Brinp2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934493,512,083 - 93,615,246 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648111,356,608 - 11,455,125 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648111,358,832 - 11,455,104 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BRINP2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl9118,975,719 - 119,095,336 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.19118,967,670 - 119,095,345 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.29130,733,801 - 130,820,039 (+)NCBISscrofa10.2Sscrofa10.2susScr3
BRINP2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12551,993,095 - 52,114,569 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2551,993,135 - 52,105,212 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605553,564,202 - 53,676,022 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Brinp2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247714,924,750 - 4,972,097 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247714,926,187 - 5,021,454 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in BRINP2
46 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1 copy number loss See cases [RCV000051221] Chr1:175035040..186042595 [GRCh38]
Chr1:175004176..186011727 [GRCh37]
Chr1:173270799..184278350 [NCBI36]
Chr1:1q25.1-31.1		 pathogenic
GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3 copy number gain See cases [RCV000051856] Chr1:164922655..180061589 [GRCh38]
Chr1:164891892..180030724 [GRCh37]
Chr1:163158516..178297347 [NCBI36]
Chr1:1q23.3-25.2		 pathogenic
NM_021165.3(BRINP2):c.231G>A (p.Arg77=) single nucleotide variant Malignant melanoma [RCV000060002] Chr1:177230107 [GRCh38]
Chr1:177199243 [GRCh37]
Chr1:175465866 [NCBI36]
Chr1:1q25.2		 not provided
NM_021165.3(BRINP2):c.1692G>T (p.Val564=) single nucleotide variant Malignant melanoma [RCV000060003] Chr1:177280868 [GRCh38]
Chr1:177250004 [GRCh37]
Chr1:175516627 [NCBI36]
Chr1:1q25.2		 not provided
NM_021165.3(BRINP2):c.2034G>A (p.Met678Ile) single nucleotide variant Malignant melanoma [RCV000060004] Chr1:177281210 [GRCh38]
Chr1:177250346 [GRCh37]
Chr1:175516969 [NCBI36]
Chr1:1q25.2		 not provided
NM_021165.3(BRINP2):c.27T>C (p.Phe9=) single nucleotide variant Malignant melanoma [RCV000064343] Chr1:177229903 [GRCh38]
Chr1:177199039 [GRCh37]
Chr1:175465662 [NCBI36]
Chr1:1q25.2		 not provided
NM_021165.3(BRINP2):c.618G>A (p.Glu206=) single nucleotide variant Malignant melanoma [RCV000064344] Chr1:177257333 [GRCh38]
Chr1:177226469 [GRCh37]
Chr1:175493092 [NCBI36]
Chr1:1q25.2		 not provided
NM_021165.3(BRINP2):c.646C>T (p.Gln216Ter) single nucleotide variant Malignant melanoma [RCV000064345] Chr1:177257361 [GRCh38]
Chr1:177226497 [GRCh37]
Chr1:175493120 [NCBI36]
Chr1:1q25.2		 not provided
NM_021165.3(BRINP2):c.783G>A (p.Gln261=) single nucleotide variant Malignant melanoma [RCV000064346] Chr1:177276205 [GRCh38]
Chr1:177245341 [GRCh37]
Chr1:175511964 [NCBI36]
Chr1:1q25.2		 not provided
NM_021165.3(BRINP2):c.1495C>T (p.Leu499=) single nucleotide variant Malignant melanoma [RCV000064347] Chr1:177280671 [GRCh38]
Chr1:177249807 [GRCh37]
Chr1:175516430 [NCBI36]
Chr1:1q25.2		 not provided
NM_021165.3(BRINP2):c.-77+21986T>A single nucleotide variant Lung cancer [RCV000090027] Chr1:177193718 [GRCh38]
Chr1:177162854 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_021165.3(BRINP2):c.-77+27044G>A single nucleotide variant Lung cancer [RCV000090028] Chr1:177198776 [GRCh38]
Chr1:177167912 [GRCh37]
Chr1:1q25.2		 uncertain significance
GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1 copy number loss See cases [RCV000134144] Chr1:176595962..196301688 [GRCh38]
Chr1:176565098..196270818 [GRCh37]
Chr1:174831721..194537441 [NCBI36]
Chr1:1q25.2-31.3		 pathogenic
GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3 copy number gain See cases [RCV000134876] Chr1:171039975..186875957 [GRCh38]
Chr1:171009116..186845089 [GRCh37]
Chr1:169275740..185111712 [NCBI36]
Chr1:1q24.3-31.1		 pathogenic
GRCh38/hg38 1q24.2-25.2(chr1:169218236-178075834)x1 copy number loss See cases [RCV000137128] Chr1:169218236..178075834 [GRCh38]
Chr1:169187474..178044969 [GRCh37]
Chr1:167454098..176311592 [NCBI36]
Chr1:1q24.2-25.2		 pathogenic
GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1 copy number loss See cases [RCV000142369] Chr1:170929720..191065409 [GRCh38]
Chr1:170898861..191034539 [GRCh37]
Chr1:169165485..189301162 [NCBI36]
Chr1:1q24.3-31.2		 pathogenic
GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1 copy number loss See cases [RCV000143688] Chr1:170036068..187555148 [GRCh38]
Chr1:170005209..187524280 [GRCh37]
Chr1:168271833..185790903 [NCBI36]
Chr1:1q24.2-31.1		 pathogenic
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 copy number gain See cases [RCV000143515] Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2		 pathogenic
GRCh37/hg19 1q24.3-25.3(chr1:172742952-181814496)x1 copy number loss See cases [RCV000239775] Chr1:172742952..181814496 [GRCh37]
Chr1:1q24.3-25.3		 pathogenic
GRCh37/hg19 1q24.2-25.3(chr1:169423492-180367623) copy number gain not provided [RCV000767621] Chr1:169423492..180367623 [GRCh37]
Chr1:1q24.2-25.3		 pathogenic
GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1 copy number loss See cases [RCV000447098] Chr1:161676893..184071723 [GRCh37]
Chr1:1q23.3-25.3		 pathogenic
GRCh37/hg19 1q24.2-25.3(chr1:169873155-181823980)x1 copy number loss See cases [RCV000447593] Chr1:169873155..181823980 [GRCh37]
Chr1:1q24.2-25.3		 pathogenic
GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)x1 copy number loss See cases [RCV000448686] Chr1:171990029..195086758 [GRCh37]
Chr1:1q24.3-31.3		 pathogenic
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_021165.4(BRINP2):c.1091T>G (p.Met364Arg) single nucleotide variant Inborn genetic diseases [RCV003253460] Chr1:177278641 [GRCh38]
Chr1:177247777 [GRCh37]
Chr1:1q25.2		 uncertain significance
GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3 copy number gain See cases [RCV000512520] Chr1:173138799..185129406 [GRCh37]
Chr1:1q25.1-25.3		 likely pathogenic
GRCh37/hg19 1q25.2(chr1:177044080-177295587)x3 copy number gain not provided [RCV000684674] Chr1:177044080..177295587 [GRCh37]
Chr1:1q25.2		 uncertain significance
GRCh37/hg19 1q25.2(chr1:177046326-177275885)x3 copy number gain not provided [RCV000684675] Chr1:177046326..177275885 [GRCh37]
Chr1:1q25.2		 uncertain significance
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 1q25.1-31.1(chr1:173131908-187406532)x1 copy number loss not provided [RCV000736735] Chr1:173131908..187406532 [GRCh37]
Chr1:1q25.1-31.1		 pathogenic
NM_021165.4(BRINP2):c.837C>T (p.Tyr279=) single nucleotide variant not provided [RCV000949235] Chr1:177276259 [GRCh38]
Chr1:177245395 [GRCh37]
Chr1:1q25.2		 benign
GRCh37/hg19 1q25.2(chr1:176913693-177762061)x1 copy number loss not provided [RCV000849157] Chr1:176913693..177762061 [GRCh37]
Chr1:1q25.2		 uncertain significance
NC_000001.10:g.172652343_183538289del10885947 deletion 1q24q25 microdeletion syndrome [RCV000785662] Chr1:172652343..183538289 [GRCh37]
Chr1:1q24.3-25.3		 pathogenic
GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3 copy number gain not provided [RCV001258487] Chr1:173162501..182702252 [GRCh37]
Chr1:1q25.1-25.3		 pathogenic
GRCh37/hg19 1q25.1-25.2(chr1:174410914-178743636)x1 copy number loss not provided [RCV001258486] Chr1:174410914..178743636 [GRCh37]
Chr1:1q25.1-25.2		 uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
GRCh37/hg19 1q24.2-25.3(chr1:169873155-181823980) copy number loss not specified [RCV002053713] Chr1:169873155..181823980 [GRCh37]
Chr1:1q24.2-25.3		 pathogenic
GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758) copy number loss not specified [RCV002053736] Chr1:171990029..195086758 [GRCh37]
Chr1:1q24.3-31.3		 pathogenic
NM_021165.4(BRINP2):c.2162T>C (p.Ile721Thr) single nucleotide variant Inborn genetic diseases [RCV002840926] Chr1:177281338 [GRCh38]
Chr1:177250474 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_021165.4(BRINP2):c.1165A>C (p.Ile389Leu) single nucleotide variant Inborn genetic diseases [RCV002733008] Chr1:177278715 [GRCh38]
Chr1:177247851 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_021165.4(BRINP2):c.884G>T (p.Cys295Phe) single nucleotide variant Inborn genetic diseases [RCV002865866] Chr1:177276306 [GRCh38]
Chr1:177245442 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_021165.4(BRINP2):c.541G>C (p.Gly181Arg) single nucleotide variant Inborn genetic diseases [RCV002707920] Chr1:177257256 [GRCh38]
Chr1:177226392 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_021165.4(BRINP2):c.1648A>G (p.Met550Val) single nucleotide variant Inborn genetic diseases [RCV002924757] Chr1:177280824 [GRCh38]
Chr1:177249960 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_021165.4(BRINP2):c.1220G>A (p.Arg407His) single nucleotide variant Inborn genetic diseases [RCV002978327] Chr1:177278770 [GRCh38]
Chr1:177247906 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_021165.4(BRINP2):c.1219C>T (p.Arg407Cys) single nucleotide variant Inborn genetic diseases [RCV002784292] Chr1:177278769 [GRCh38]
Chr1:177247905 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_021165.4(BRINP2):c.2265G>C (p.Glu755Asp) single nucleotide variant Inborn genetic diseases [RCV002924629] Chr1:177281441 [GRCh38]
Chr1:177250577 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_021165.4(BRINP2):c.2206G>A (p.Val736Ile) single nucleotide variant Inborn genetic diseases [RCV002887286] Chr1:177281382 [GRCh38]
Chr1:177250518 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_021165.4(BRINP2):c.164T>G (p.Leu55Arg) single nucleotide variant Inborn genetic diseases [RCV002805034] Chr1:177230040 [GRCh38]
Chr1:177199176 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_021165.4(BRINP2):c.254G>A (p.Arg85Lys) single nucleotide variant Inborn genetic diseases [RCV002768009] Chr1:177230130 [GRCh38]
Chr1:177199266 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_021165.4(BRINP2):c.1183A>C (p.Asn395His) single nucleotide variant Inborn genetic diseases [RCV002709041] Chr1:177278733 [GRCh38]
Chr1:177247869 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_021165.4(BRINP2):c.806G>A (p.Arg269His) single nucleotide variant Inborn genetic diseases [RCV002984406] Chr1:177276228 [GRCh38]
Chr1:177245364 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_021165.4(BRINP2):c.1394C>T (p.Ala465Val) single nucleotide variant Inborn genetic diseases [RCV002916765] Chr1:177280570 [GRCh38]
Chr1:177249706 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_021165.4(BRINP2):c.1646G>A (p.Arg549His) single nucleotide variant Inborn genetic diseases [RCV002768194] Chr1:177280822 [GRCh38]
Chr1:177249958 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_021165.4(BRINP2):c.148G>A (p.Ala50Thr) single nucleotide variant Inborn genetic diseases [RCV002768277] Chr1:177230024 [GRCh38]
Chr1:177199160 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_021165.4(BRINP2):c.1963G>A (p.Asp655Asn) single nucleotide variant Inborn genetic diseases [RCV002742778] Chr1:177281139 [GRCh38]
Chr1:177250275 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_021165.4(BRINP2):c.629G>A (p.Arg210Gln) single nucleotide variant Inborn genetic diseases [RCV002668412] Chr1:177257344 [GRCh38]
Chr1:177226480 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_021165.4(BRINP2):c.2128C>G (p.Gln710Glu) single nucleotide variant Inborn genetic diseases [RCV002670560] Chr1:177281304 [GRCh38]
Chr1:177250440 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_021165.4(BRINP2):c.193T>A (p.Phe65Ile) single nucleotide variant Inborn genetic diseases [RCV002900895] Chr1:177230069 [GRCh38]
Chr1:177199205 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_021165.4(BRINP2):c.2113G>A (p.Asp705Asn) single nucleotide variant Inborn genetic diseases [RCV002896371] Chr1:177281289 [GRCh38]
Chr1:177250425 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_021165.4(BRINP2):c.318C>G (p.Asp106Glu) single nucleotide variant Inborn genetic diseases [RCV002808139] Chr1:177255967 [GRCh38]
Chr1:177225103 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_021165.4(BRINP2):c.976T>A (p.Ser326Thr) single nucleotide variant Inborn genetic diseases [RCV002677289] Chr1:177276398 [GRCh38]
Chr1:177245534 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_021165.4(BRINP2):c.1999G>A (p.Glu667Lys) single nucleotide variant Inborn genetic diseases [RCV003277363] Chr1:177281175 [GRCh38]
Chr1:177250311 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_021165.4(BRINP2):c.1109A>G (p.His370Arg) single nucleotide variant Inborn genetic diseases [RCV003217743] Chr1:177278659 [GRCh38]
Chr1:177247795 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_021165.4(BRINP2):c.995G>A (p.Arg332Gln) single nucleotide variant Inborn genetic diseases [RCV003195525] Chr1:177276417 [GRCh38]
Chr1:177245553 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_021165.4(BRINP2):c.1261A>G (p.Ile421Val) single nucleotide variant Inborn genetic diseases [RCV003210218] Chr1:177280437 [GRCh38]
Chr1:177249573 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_021165.4(BRINP2):c.1912T>G (p.Phe638Val) single nucleotide variant Inborn genetic diseases [RCV003261253] Chr1:177281088 [GRCh38]
Chr1:177250224 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_021165.4(BRINP2):c.400G>T (p.Val134Phe) single nucleotide variant Inborn genetic diseases [RCV003188412] Chr1:177256049 [GRCh38]
Chr1:177225185 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_021165.4(BRINP2):c.419A>G (p.Lys140Arg) single nucleotide variant Inborn genetic diseases [RCV003194726] Chr1:177256068 [GRCh38]
Chr1:177225204 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_021165.4(BRINP2):c.797A>C (p.Glu266Ala) single nucleotide variant Inborn genetic diseases [RCV003179177] Chr1:177276219 [GRCh38]
Chr1:177245355 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_021165.4(BRINP2):c.812G>A (p.Arg271His) single nucleotide variant Inborn genetic diseases [RCV003344469] Chr1:177276234 [GRCh38]
Chr1:177245370 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_021165.4(BRINP2):c.607A>G (p.Ile203Val) single nucleotide variant Inborn genetic diseases [RCV003365806] Chr1:177257322 [GRCh38]
Chr1:177226458 [GRCh37]
Chr1:1q25.2		 uncertain significance
NM_021165.4(BRINP2):c.334T>G (p.Leu112Val) single nucleotide variant Inborn genetic diseases [RCV003355169] Chr1:177255983 [GRCh38]
Chr1:177225119 [GRCh37]
Chr1:1q25.2		 uncertain significance
GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3 copy number gain not specified [RCV003986506] Chr1:173162501..182702252 [GRCh37]
Chr1:1q25.1-25.3		 pathogenic
GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1 copy number loss not specified [RCV003987250] Chr1:167994071..187711459 [GRCh37]
Chr1:1q24.2-31.1		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:860
Count of miRNA genes:573
Interacting mature miRNAs:654
Transcripts:ENST00000361539, ENST00000460161, ENST00000478325
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.

Markers in Region
AL034208  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371177,244,343 - 177,244,484UniSTSGRCh37
Build 361175,510,966 - 175,511,107RGDNCBI36
Celera1150,354,413 - 150,354,554RGD
Cytogenetic Map1q24UniSTS
HuRef1148,471,362 - 148,471,503UniSTS
D1S1826E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371177,251,341 - 177,251,532UniSTSGRCh37
Build 361175,517,964 - 175,518,155RGDNCBI36
Celera1150,361,411 - 150,361,602RGD
Cytogenetic Map1q24UniSTS
HuRef1148,478,360 - 148,478,551UniSTS
D1S3663  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371177,145,467 - 177,145,713UniSTSGRCh37
Build 361175,412,090 - 175,412,336RGDNCBI36
Celera1150,255,538 - 150,255,784RGD
HuRef1148,372,476 - 148,372,722UniSTS
SHGC-75941  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371177,251,279 - 177,251,380UniSTSGRCh37
Build 361175,517,902 - 175,518,003RGDNCBI36
Celera1150,361,349 - 150,361,450RGD
Cytogenetic Map1q24UniSTS
HuRef1148,478,298 - 148,478,399UniSTS
TNG Radiation Hybrid Map182617.0UniSTS
GeneMap99-GB4 RH Map1627.38UniSTS
WI-15575  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371177,251,289 - 177,251,415UniSTSGRCh37
Build 361175,517,912 - 175,518,038RGDNCBI36
Celera1150,361,359 - 150,361,485RGD
Cytogenetic Map1q24UniSTS
HuRef1148,478,308 - 148,478,434UniSTS
GeneMap99-GB4 RH Map1627.38UniSTS
Whitehead-RH Map1782.4UniSTS
NCBI RH Map11540.9UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 1 3 259 1 3 1 1 6 1524 4 20 7 11 1
Low 347 135 330 48 222 13 306 374 1593 22 512 114 36 299 194 1
Below cutoff 1876 2167 893 439 666 320 3636 1563 549 193 738 1162 121 886 2322 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_021165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005245379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB051534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB161694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF131833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL021398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL022143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL035289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA118275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000361539   ⟹   ENSP00000354481
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1177,170,958 - 177,282,422 (+)Ensembl
RefSeq Acc Id: ENST00000460161
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1177,256,781 - 177,257,295 (+)Ensembl
RefSeq Acc Id: ENST00000478325
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1177,256,860 - 177,281,814 (+)Ensembl
RefSeq Acc Id: NM_021165   ⟹   NP_066988
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381177,170,958 - 177,282,422 (+)NCBI
GRCh371177,140,058 - 177,251,558 (+)NCBI
Build 361175,407,256 - 175,518,181 (+)NCBI Archive
Celera1150,250,704 - 150,361,628 (+)RGD
HuRef1148,367,642 - 148,478,577 (+)ENTREZGENE
CHM1_11178,564,515 - 178,675,569 (+)NCBI
T2T-CHM13v2.01176,525,633 - 176,637,111 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005245379   ⟹   XP_005245436
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381177,170,958 - 177,282,422 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024448722   ⟹   XP_024304490
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381177,206,524 - 177,282,422 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054337928   ⟹   XP_054193903
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01176,525,633 - 176,637,111 (+)NCBI
RefSeq Acc Id: XM_054337929   ⟹   XP_054193904
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01176,561,209 - 176,637,111 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_066988   ⟸   NM_021165
- Peptide Label: precursor
- UniProtKB: Q7LCZ9 (UniProtKB/Swiss-Prot),   Q6ZWC1 (UniProtKB/Swiss-Prot),   O95560 (UniProtKB/Swiss-Prot),   Q8N360 (UniProtKB/Swiss-Prot),   Q9C0B6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005245436   ⟸   XM_005245379
- Peptide Label: isoform X1
- UniProtKB: Q7LCZ9 (UniProtKB/Swiss-Prot),   Q6ZWC1 (UniProtKB/Swiss-Prot),   O95560 (UniProtKB/Swiss-Prot),   Q8N360 (UniProtKB/Swiss-Prot),   Q9C0B6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024304490   ⟸   XM_024448722
- Peptide Label: isoform X1
- UniProtKB: Q9C0B6 (UniProtKB/Swiss-Prot),   Q7LCZ9 (UniProtKB/Swiss-Prot),   Q6ZWC1 (UniProtKB/Swiss-Prot),   O95560 (UniProtKB/Swiss-Prot),   Q8N360 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000354481   ⟸   ENST00000361539
RefSeq Acc Id: XP_054193903   ⟸   XM_054337928
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054193904   ⟸   XM_054337929
- Peptide Label: isoform X1
Protein Domains
MACPF

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9C0B6-F1-model_v2 AlphaFold Q9C0B6 1-783 view protein structure

Promoters
RGD ID:6858216
Promoter ID:EPDNEW_H2273
Type:initiation region
Name:BRINP2_1
Description:BMP/retinoic acid inducible neural specific 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2274  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381177,170,958 - 177,171,018EPDNEW
RGD ID:6858218
Promoter ID:EPDNEW_H2274
Type:initiation region
Name:BRINP2_2
Description:BMP/retinoic acid inducible neural specific 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2273  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381177,171,435 - 177,171,495EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13746 AgrOrtholog
COSMIC BRINP2 COSMIC
Ensembl Genes ENSG00000198797 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000361539 ENTREZGENE
  ENST00000361539.5 UniProtKB/Swiss-Prot
GTEx ENSG00000198797 GTEx
HGNC ID HGNC:13746 ENTREZGENE
Human Proteome Map BRINP2 Human Proteome Map
InterPro BRINP UniProtKB/Swiss-Prot
  MACPF UniProtKB/Swiss-Prot
KEGG Report hsa:57795 UniProtKB/Swiss-Prot
NCBI Gene 57795 ENTREZGENE
OMIM 619359 OMIM
PANTHER BMP/RETINOIC ACID-INDUCIBLE NEURAL-SPECIFIC PROTEIN 2 UniProtKB/Swiss-Prot
  PTHR15564 UniProtKB/Swiss-Prot
Pfam BRINP UniProtKB/Swiss-Prot
  MACPF UniProtKB/Swiss-Prot
PharmGKB PA142671895 PharmGKB
SMART MACPF UniProtKB/Swiss-Prot
UniProt BRNP2_HUMAN UniProtKB/Swiss-Prot
  O95560 ENTREZGENE
  Q6ZWC1 ENTREZGENE
  Q7LCZ9 ENTREZGENE
  Q8N360 ENTREZGENE
  Q9C0B6 ENTREZGENE
UniProt Secondary O95560 UniProtKB/Swiss-Prot
  Q6ZWC1 UniProtKB/Swiss-Prot
  Q7LCZ9 UniProtKB/Swiss-Prot
  Q8N360 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-29 BRINP2  BMP/retinoic acid inducible neural specific 2    bone morphogenetic protein/retinoic acid inducible neural-specific 2  Symbol and/or name change 5135510 APPROVED
2013-08-13 BRINP2  bone morphogenetic protein/retinoic acid inducible neural-specific 2    bone morphogenic protein/retinoic acid inducible neural-specific 2  Symbol and/or name change 5135510 APPROVED
2013-08-06 BRINP2  bone morphogenic protein/retinoic acid inducible neural-specific 2  FAM5B  family with sequence similarity 5, member B  Symbol and/or name change 5135510 APPROVED