UNC119B (unc-119 lipid binding chaperone B) - Rat Genome Database

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Gene: UNC119B (unc-119 lipid binding chaperone B) Homo sapiens
Analyze
Symbol: UNC119B
Name: unc-119 lipid binding chaperone B
RGD ID: 1345863
HGNC Page HGNC:16488
Description: Enables lipid binding activity. Involved in cilium assembly and lipoprotein transport. Located in ciliary transition zone.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: MGC5139; POC7 centriolar protein homolog B; POC7B; protein unc-119 homolog B; unc-119 homolog B; unc119 homolog B
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
GRCh3812120,710,458 - 120,723,640 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl12120,710,458 - 120,723,640 (+)EnsemblGRCh38hg38GRCh38
GRCh3712121,148,261 - 121,161,443 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3612119,632,214 - 119,645,826 (+)NCBINCBI36Build 36hg18NCBI36
Celera12120,782,096 - 120,795,706 (+)NCBICelera
Cytogenetic Map12q24.31NCBI
HuRef12118,157,594 - 118,170,796 (+)NCBIHuRef
CHM1_112121,117,014 - 121,130,218 (+)NCBICHM1_1
T2T-CHM13v2.012120,699,614 - 120,712,778 (+)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

Cellular Component
ciliary transition zone  (IDA)
cilium  (IBA,IEA,TAS)
cytosol  (TAS)

Molecular Function
lipid binding  (IBA,IDA,IEA)
protein binding  (IPI)

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:11181995   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16344560   PMID:16541075   PMID:16751776   PMID:19913121   PMID:20628086   PMID:21873635   PMID:21886157   PMID:22085962  
PMID:22658674   PMID:22939629   PMID:23000199   PMID:24816252   PMID:26186194   PMID:26455799   PMID:26496610   PMID:26972000   PMID:27173435   PMID:28514442   PMID:29395067   PMID:30773093  
PMID:32707033   PMID:33957083   PMID:33961781   PMID:35831314   PMID:35944360   PMID:36215168   PMID:36574265   PMID:36736316   PMID:37903971  


Genomics

Comparative Map Data
UNC119B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3812120,710,458 - 120,723,640 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl12120,710,458 - 120,723,640 (+)EnsemblGRCh38hg38GRCh38
GRCh3712121,148,261 - 121,161,443 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3612119,632,214 - 119,645,826 (+)NCBINCBI36Build 36hg18NCBI36
Celera12120,782,096 - 120,795,706 (+)NCBICelera
Cytogenetic Map12q24.31NCBI
HuRef12118,157,594 - 118,170,796 (+)NCBIHuRef
CHM1_112121,117,014 - 121,130,218 (+)NCBICHM1_1
T2T-CHM13v2.012120,699,614 - 120,712,778 (+)NCBIT2T-CHM13v2.0
Unc119b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395115,260,625 - 115,273,034 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5115,260,609 - 115,273,034 (-)EnsemblGRCm39 Ensembl
GRCm385115,122,566 - 115,134,975 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5115,122,550 - 115,134,975 (-)EnsemblGRCm38mm10GRCm38
MGSCv375115,572,575 - 115,584,984 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365115,383,565 - 115,395,974 (-)NCBIMGSCv36mm8
Celera5112,218,822 - 112,231,256 (-)NCBICelera
Cytogenetic Map5FNCBI
cM Map555.99NCBI
Unc119b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81247,139,492 - 47,152,115 (+)NCBIGRCr8
mRatBN7.21241,478,808 - 41,491,432 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1241,478,808 - 41,491,432 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1242,646,301 - 42,658,923 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01243,259,958 - 43,272,578 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01242,320,523 - 42,333,145 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01247,239,663 - 47,252,286 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1247,218,969 - 47,252,286 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01249,034,761 - 49,047,383 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41242,750,444 - 42,763,067 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11242,613,896 - 42,623,617 (+)NCBI
Celera1243,097,509 - 43,110,154 (+)NCBICelera
Cytogenetic Map12q16NCBI
Unc119b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545510,950,126 - 10,963,803 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545510,950,126 - 10,963,803 (-)NCBIChiLan1.0ChiLan1.0
UNC119B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v210128,780,704 - 128,793,897 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan112128,777,077 - 128,790,270 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v012118,293,984 - 118,307,156 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.112121,667,039 - 121,679,936 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl12121,667,064 - 121,676,321 (+)Ensemblpanpan1.1panPan2
UNC119B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12616,557,721 - 16,569,695 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2616,557,742 - 16,566,257 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2616,560,262 - 16,572,241 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02616,823,682 - 16,835,670 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2616,823,673 - 16,835,670 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12616,784,230 - 16,796,212 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02616,859,974 - 16,871,944 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02616,902,310 - 16,914,299 (+)NCBIUU_Cfam_GSD_1.0
Unc119b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118145,776,684 - 145,797,693 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936668275,512 - 289,971 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936668275,573 - 289,938 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
UNC119B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1440,627,730 - 40,638,493 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11440,624,196 - 40,638,497 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21443,091,946 - 43,106,246 (+)NCBISscrofa10.2Sscrofa10.2susScr3
UNC119B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.111116,067,717 - 116,081,164 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl11116,067,753 - 116,081,437 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037129,015,734 - 129,029,306 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Unc119b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474712,975,298 - 12,988,912 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474712,974,046 - 12,988,927 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in UNC119B
24 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3 copy number gain See cases [RCV000050866] Chr12:118165459..133182322 [GRCh38]
Chr12:118603264..133758908 [GRCh37]
Chr12:117087647..132268981 [NCBI36]
Chr12:12q24.23-24.33		 pathogenic
GRCh38/hg38 12q24.31(chr12:120504068-122459718)x1 copy number loss See cases [RCV000051342] Chr12:120504068..122459718 [GRCh38]
Chr12:120941871..122944265 [GRCh37]
Chr12:119426254..121510218 [NCBI36]
Chr12:12q24.31		 pathogenic
GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3 copy number gain See cases [RCV000051981] Chr12:119286893..122638552 [GRCh38]
Chr12:119724698..123123099 [GRCh37]
Chr12:118209081..121689052 [NCBI36]
Chr12:12q24.23-24.31		 uncertain significance
GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3 copy number gain See cases [RCV000053689] Chr12:115131583..133166920 [GRCh38]
Chr12:115569388..133743506 [GRCh37]
Chr12:114053771..132253579 [NCBI36]
Chr12:12q24.21-24.33		 pathogenic
GRCh38/hg38 12q24.23-24.33(chr12:119417382-133191400)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053691]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053691]|See cases [RCV000053691] Chr12:119417382..133191400 [GRCh38]
Chr12:119855187..133767986 [GRCh37]
Chr12:118339570..132278059 [NCBI36]
Chr12:12q24.23-24.33		 pathogenic
NM_001080533.2(UNC119B):c.664C>T (p.Pro222Ser) single nucleotide variant Malignant melanoma [RCV000069853] Chr12:120719940 [GRCh38]
Chr12:121157743 [GRCh37]
Chr12:119642126 [NCBI36]
Chr12:12q24.31		 not provided
GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3 copy number gain See cases [RCV000137651] Chr12:120697672..133202490 [GRCh38]
Chr12:121135475..133779076 [GRCh37]
Chr12:119619858..132289149 [NCBI36]
Chr12:12q24.31-24.33		 pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1 copy number loss See cases [RCV000142454] Chr12:120718786..127500215 [GRCh38]
Chr12:121156589..127984760 [GRCh37]
Chr12:119640972..126550713 [NCBI36]
Chr12:12q24.31-24.32		 pathogenic
GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3 copy number gain See cases [RCV000143656] Chr12:114268403..133201316 [GRCh38]
Chr12:114706208..133777902 [GRCh37]
Chr12:113190591..132287975 [NCBI36]
Chr12:12q24.21-24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NM_001080533.3(UNC119B):c.52G>A (p.Gly18Arg) single nucleotide variant Inborn genetic diseases [RCV003277246] Chr12:120710526 [GRCh38]
Chr12:121148329 [GRCh37]
Chr12:12q24.31		 uncertain significance
GRCh37/hg19 12q24.31(chr12:121017665-121496723)x3 copy number gain not provided [RCV000585446] Chr12:121017665..121496723 [GRCh37]
Chr12:12q24.31		 likely benign
GRCh37/hg19 12q24.31(chr12:121070791-121422367)x3 copy number gain not provided [RCV000683423] Chr12:121070791..121422367 [GRCh37]
Chr12:12q24.31		 uncertain significance
GRCh37/hg19 12q24.23-24.31(chr12:120516089-121376736)x3 copy number gain not provided [RCV000683452] Chr12:120516089..121376736 [GRCh37]
Chr12:12q24.23-24.31		 uncertain significance
GRCh37/hg19 12q24.23-24.33(chr12:120367241-133777645)x3 copy number gain not provided [RCV000738070] Chr12:120367241..133777645 [GRCh37]
Chr12:12q24.23-24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3 copy number gain Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV001801213] Chr12:117461902..133841395 [GRCh37]
Chr12:12q24.22-24.33		 likely pathogenic
NM_001080533.3(UNC119B):c.701A>G (p.Asp234Gly) single nucleotide variant Inborn genetic diseases [RCV002859536] Chr12:120719977 [GRCh38]
Chr12:121157780 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_001080533.3(UNC119B):c.659A>G (p.Glu220Gly) single nucleotide variant Inborn genetic diseases [RCV002907305] Chr12:120719935 [GRCh38]
Chr12:121157738 [GRCh37]
Chr12:12q24.31		 uncertain significance
GRCh37/hg19 12q24.31(chr12:120761046-121280839)x4 copy number gain not provided [RCV002475870] Chr12:120761046..121280839 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_001080533.3(UNC119B):c.437C>T (p.Pro146Leu) single nucleotide variant Inborn genetic diseases [RCV002754223] Chr12:120716706 [GRCh38]
Chr12:121154509 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_001080533.3(UNC119B):c.668A>T (p.Tyr223Phe) single nucleotide variant Inborn genetic diseases [RCV002849359] Chr12:120719944 [GRCh38]
Chr12:121157747 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_001080533.3(UNC119B):c.412C>T (p.Arg138Cys) single nucleotide variant Inborn genetic diseases [RCV002893429] Chr12:120716681 [GRCh38]
Chr12:121154484 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_001080533.3(UNC119B):c.173C>T (p.Thr58Met) single nucleotide variant Inborn genetic diseases [RCV002787132] Chr12:120710647 [GRCh38]
Chr12:121148450 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_001080533.3(UNC119B):c.56G>A (p.Gly19Glu) single nucleotide variant Inborn genetic diseases [RCV002855500] Chr12:120710530 [GRCh38]
Chr12:121148333 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_001080533.3(UNC119B):c.109C>A (p.Arg37Ser) single nucleotide variant Inborn genetic diseases [RCV003175868] Chr12:120710583 [GRCh38]
Chr12:121148386 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_001080533.3(UNC119B):c.325G>A (p.Val109Ile) single nucleotide variant Inborn genetic diseases [RCV003342749] Chr12:120713354 [GRCh38]
Chr12:121151157 [GRCh37]
Chr12:12q24.31		 uncertain significance
NM_001080533.3(UNC119B):c.196G>C (p.Asp66His) single nucleotide variant Inborn genetic diseases [RCV003350065] Chr12:120710670 [GRCh38]
Chr12:121148473 [GRCh37]
Chr12:12q24.31		 uncertain significance
GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3 copy number gain not provided [RCV003484880] Chr12:120880079..133777902 [GRCh37]
Chr12:12q24.31-24.33		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1815
Count of miRNA genes:985
Interacting mature miRNAs:1171
Transcripts:ENST00000344651, ENST00000539658
Prediction methods: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.

Markers in Region
RH44866  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712121,161,196 - 121,161,314UniSTSGRCh37
Build 3612119,645,579 - 119,645,697RGDNCBI36
Celera12120,795,459 - 120,795,577RGD
Cytogenetic Map12q24.31UniSTS
HuRef12118,170,549 - 118,170,667UniSTS
G62983  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712121,149,313 - 121,149,590UniSTSGRCh37
Build 3612119,633,696 - 119,633,973RGDNCBI36
Celera12120,783,578 - 120,783,855RGD
Cytogenetic Map12q24.31UniSTS
HuRef12118,158,669 - 118,158,946UniSTS
TNG Radiation Hybrid Map1259717.0UniSTS
G15658  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712121,148,000 - 121,148,129UniSTSGRCh37
Build 3612119,632,383 - 119,632,512RGDNCBI36
Celera12120,782,265 - 120,782,394RGD
Cytogenetic Map12q24.31UniSTS
HuRef12118,157,356 - 118,157,485UniSTS
A007C39  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712121,161,148 - 121,161,431UniSTSGRCh37
Build 3612119,645,531 - 119,645,814RGDNCBI36
Celera12120,795,411 - 120,795,694RGD
Cytogenetic Map12q24.31UniSTS
HuRef12118,170,501 - 118,170,784UniSTS
GeneMap99-GB4 RH Map12469.13UniSTS
NCBI RH Map12751.0UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2388 1548 1386 238 1208 132 3017 985 3210 388 1407 1583 120 1 1065 1762 5 2
Low 51 1425 340 386 725 333 1339 1212 524 31 53 30 55 139 1026 1
Below cutoff 18 18

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000344651   ⟹   ENSP00000344942
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12120,710,458 - 120,723,640 (+)Ensembl
RefSeq Acc Id: ENST00000539658
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12120,710,517 - 120,716,640 (+)Ensembl
RefSeq Acc Id: ENST00000618898
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12120,710,458 - 120,711,353 (+)Ensembl
RefSeq Acc Id: NM_001080533   ⟹   NP_001074002
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812120,710,458 - 120,723,640 (+)NCBI
GRCh3712121,148,238 - 121,161,443 (+)NCBI
Build 3612119,632,214 - 119,645,826 (+)NCBI Archive
Celera12120,782,096 - 120,795,706 (+)RGD
HuRef12118,157,594 - 118,170,796 (+)NCBI
CHM1_112121,117,014 - 121,130,218 (+)NCBI
T2T-CHM13v2.012120,699,614 - 120,712,778 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_001074002   ⟸   NM_001080533
- UniProtKB: A6NIH7 (UniProtKB/Swiss-Prot),   B3KX02 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000344942   ⟸   ENST00000344651
Protein Domains
GMP phosphodiesterase delta subunit

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A6NIH7-F1-model_v2 AlphaFold A6NIH7 1-251 view protein structure

Promoters
RGD ID:6790644
Promoter ID:HG_KWN:16839
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000344651,   NM_001080533
Position:
Human AssemblyChrPosition (strand)Source
Build 3612119,632,456 - 119,632,956 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16488 AgrOrtholog
COSMIC UNC119B COSMIC
Ensembl Genes ENSG00000175970 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000344651 ENTREZGENE
  ENST00000344651.5 UniProtKB/Swiss-Prot
Gene3D-CATH 2.70.50.40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000175970 GTEx
HGNC ID HGNC:16488 ENTREZGENE
Human Proteome Map UNC119B Human Proteome Map
InterPro Ig_E-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDED_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDED_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:84747 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 84747 ENTREZGENE
OMIM 620513 OMIM
PANTHER PROTEIN UNC-119 HOMOLOG B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RETINAL PROTEIN 4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam GMP_PDE_delta UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38152 PharmGKB
Superfamily-SCOP E set domains UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
UniProt A6NIH7 ENTREZGENE
  B3KX02 ENTREZGENE, UniProtKB/TrEMBL
  Q69YW6_HUMAN UniProtKB/TrEMBL
  Q9BST3_HUMAN UniProtKB/TrEMBL
  U119B_HUMAN UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-06-23 UNC119B  unc-119 lipid binding chaperone B    unc-119 homolog B (C. elegans)  Symbol and/or name change 5135510 APPROVED