SCRIB (scribble planar cell polarity protein) - Rat Genome Database

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Gene: SCRIB (scribble planar cell polarity protein) Homo sapiens
Analyze
Symbol: SCRIB
Name: scribble planar cell polarity protein
RGD ID: 1321471
HGNC Page HGNC
Description: Exhibits cadherin binding activity. Involved in several processes, including activation of GTPase activity; morphogenesis of an epithelium; and positive regulation of receptor recycling. Localizes to several cellular components, including Scrib-APC-beta-catenin complex; adherens junction; and nucleoplasm. Colocalizes with cell leading edge; postsynaptic membrane; and presynaptic membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CRIB1; hScrib; protein scribble homolog; SCRB1; SCRIB1; scribble; scribbled homolog; Vartul
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
GRCh38.p13 Ensembl8143,790,920 - 143,815,773 (-)EnsemblGRCh38hg38GRCh38
GRCh388143,790,925 - 143,815,773 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378144,873,095 - 144,897,943 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368144,945,078 - 144,969,537 (-)NCBINCBI36hg18NCBI36
Celera8141,185,992 - 141,210,452 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,126,075 - 140,150,540 (-)NCBIHuRef
CHM1_18144,913,332 - 144,937,791 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
microcephaly  (IAGP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
activation of GTPase activity  (IMP)
apoptotic process involved in morphogenesis  (IMP)
astrocyte cell migration  (IEA,ISO)
auditory receptor cell morphogenesis  (ISO)
auditory receptor cell stereocilium organization  (IEA,ISO)
cell migration  (IMP)
cell population proliferation  (IDA)
cell-cell adhesion  (IBA,IGI)
cochlear nucleus development  (IEA,ISO)
establishment of apical/basal cell polarity  (IMP)
establishment of T cell polarity  (ISS)
establishment or maintenance of epithelial cell apical/basal polarity  (IBA)
inner ear receptor cell stereocilium organization  (ISO)
mammary gland duct morphogenesis  (ISS)
mitigation of host immune response by virus  (IEA)
morphogenesis of embryonic epithelium  (ISO)
negative regulation of activated T cell proliferation  (ISS)
negative regulation of mitotic cell cycle  (IDA)
neural tube closure  (IMP,ISO)
neurotransmitter receptor transport postsynaptic membrane to endosome  (IBA)
neurotransmitter receptor transport, endosome to postsynaptic membrane  (IBA)
polarized epithelial cell differentiation  (IMP)
positive chemotaxis  (IMP)
positive regulation of apoptotic process  (IMP)
positive regulation of interferon-gamma production  (ISS)
positive regulation of receptor recycling  (IMP)
post-anal tail morphogenesis  (IEA,ISO)
protein localization  (ISO)
protein localization to adherens junction  (IMP)
receptor clustering  (IBA)
receptor localization to synapse  (IBA)
regulation of postsynaptic neurotransmitter receptor internalization  (IEA)
suppression by virus of host STAT1 activity  (IEA)
suppression by virus of host STAT2 activity  (IEA)
synaptic vesicle endocytosis  (IEA)
synaptic vesicle targeting  (IEA)
vesicle-mediated transport in synapse  (ISO)
wound healing  (IEA,ISO)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Microcephaly  (IAGP)
References

References - curated
1. Jones C and Chen P, Bioessays. 2007 Feb;29(2):120-32.
2. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8590280   PMID:11027293   PMID:12168954   PMID:12477932   PMID:14681682   PMID:14710229   PMID:15144186   PMID:15182672   PMID:15231747   PMID:15261375   PMID:15302935   PMID:15345747  
PMID:15489334   PMID:15649318   PMID:15761153   PMID:15775968   PMID:15806148   PMID:15975580   PMID:16103886   PMID:16137684   PMID:16344308   PMID:16482544   PMID:16611247   PMID:16619250  
PMID:16964243   PMID:16965391   PMID:17043654   PMID:17081983   PMID:17509663   PMID:17855372   PMID:18042258   PMID:18513328   PMID:18641685   PMID:18661220   PMID:18716323   PMID:18793635  
PMID:19041750   PMID:19071123   PMID:19386766   PMID:19439659   PMID:19555689   PMID:19615732   PMID:19738201   PMID:19875381   PMID:19959811   PMID:20360068   PMID:20458337   PMID:20463225  
PMID:20467437   PMID:20622900   PMID:20702615   PMID:20936341   PMID:20939435   PMID:21086040   PMID:21132015   PMID:21145461   PMID:21489588   PMID:21525870   PMID:21549346   PMID:21701506  
PMID:21849460   PMID:21873635   PMID:21965329   PMID:22078877   PMID:22095531   PMID:22179838   PMID:22623428   PMID:22658674   PMID:22792261   PMID:22898364   PMID:23359326   PMID:23602568  
PMID:23730214   PMID:23774808   PMID:23813956   PMID:23922697   PMID:24140112   PMID:24145035   PMID:24211266   PMID:24276238   PMID:24366813   PMID:24527800   PMID:24550280   PMID:24639526  
PMID:24662921   PMID:24711643   PMID:25036637   PMID:25231870   PMID:25281560   PMID:25468996   PMID:25609649   PMID:25734361   PMID:25921289   PMID:26053890   PMID:26186194   PMID:26496610  
PMID:26527679   PMID:26617989   PMID:26618866   PMID:26638075   PMID:26949251   PMID:26972000   PMID:27315218   PMID:27380321   PMID:27382054   PMID:27428426   PMID:27505894   PMID:27521426  
PMID:27562784   PMID:27694890   PMID:27880917   PMID:28007914   PMID:28065656   PMID:28169360   PMID:28298427   PMID:28369449   PMID:28460446   PMID:28514442   PMID:28786561   PMID:29061852  
PMID:29074188   PMID:29144123   PMID:29152770   PMID:29212245   PMID:29282252   PMID:29467282   PMID:29507755   PMID:29568061   PMID:29676528   PMID:29844126   PMID:29955894   PMID:30126976  
PMID:30344098   PMID:30442766   PMID:30639242   PMID:30659601   PMID:30833792   PMID:31024071   PMID:31073040   PMID:31091453   PMID:31495720   PMID:31513346   PMID:31575922   PMID:31586073  
PMID:31678930   PMID:31732153   PMID:31741433   PMID:31753913   PMID:31980649   PMID:31995728   PMID:32203420   PMID:32293058   PMID:32411799   PMID:32534038   PMID:32564009   PMID:32780723  


Genomics

Comparative Map Data
SCRIB
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8143,790,920 - 143,815,773 (-)EnsemblGRCh38hg38GRCh38
GRCh388143,790,925 - 143,815,773 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378144,873,095 - 144,897,943 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368144,945,078 - 144,969,537 (-)NCBINCBI36hg18NCBI36
Celera8141,185,992 - 141,210,452 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,126,075 - 140,150,540 (-)NCBIHuRef
CHM1_18144,913,332 - 144,937,791 (-)NCBICHM1_1
Scrib
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391575,919,011 - 75,941,633 (-)NCBIGRCm39mm39
GRCm39 Ensembl1575,919,007 - 75,941,633 (-)Ensembl
GRCm381576,047,162 - 76,069,784 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1576,047,158 - 76,069,784 (-)EnsemblGRCm38mm10GRCm38
MGSCv371575,877,616 - 75,900,160 (-)NCBIGRCm37mm9NCBIm37
MGSCv361575,874,441 - 75,896,985 (-)NCBImm8
Celera1577,548,113 - 77,570,657 (-)NCBICelera
Cytogenetic Map15D3NCBI
cM Map1535.29NCBI
Scrib
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27107,759,343 - 107,782,364 (-)NCBI
Rnor_6.0 Ensembl7117,105,810 - 117,128,798 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07117,105,810 - 117,128,802 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07117,091,481 - 117,114,469 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47114,077,733 - 114,100,721 (-)NCBIRGSC3.4rn4RGSC3.4
Celera7104,116,077 - 104,138,929 (-)NCBICelera
Cytogenetic Map7q34NCBI
Scrib
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554542,461,760 - 2,482,098 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554542,461,526 - 2,482,734 (-)NCBIChiLan1.0ChiLan1.0
SCRIB
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18143,557,479 - 143,582,409 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8143,557,722 - 143,582,353 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08140,544,797 - 140,571,078 (-)NCBIMhudiblu_PPA_v0panPan3
SCRIB
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11337,356,405 - 37,374,765 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1337,356,405 - 37,374,681 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1337,312,750 - 37,331,086 (-)NCBI
ROS_Cfam_1.01337,828,183 - 37,846,535 (-)NCBI
UMICH_Zoey_3.11337,502,286 - 37,520,617 (-)NCBI
UNSW_CanFamBas_1.01337,619,233 - 37,637,560 (-)NCBI
UU_Cfam_GSD_1.01338,100,565 - 38,118,912 (-)NCBI
Scrib
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303923,076 - 943,996 (+)NCBI
SpeTri2.0NW_0049364708,349,175 - 8,370,099 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SCRIB
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.14824,925 - 852,360 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
SCRIB
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18138,008,722 - 138,033,874 (-)NCBI
ChlSab1.1 Ensembl8138,008,579 - 138,033,843 (-)Ensembl
Scrib
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473512,997,358 - 13,018,765 (+)NCBI

Position Markers
WI-19511  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378144,898,642 - 144,898,892UniSTSGRCh37
Build 368144,970,630 - 144,970,880RGDNCBI36
Celera8141,211,547 - 141,211,797RGD
Cytogenetic Map8q24.3UniSTS
HuRef8140,151,602 - 140,151,852UniSTS
GeneMap99-GB4 RH Map8563.83UniSTS
Whitehead-RH Map8717.7UniSTS
RH70666  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378144,898,558 - 144,898,701UniSTSGRCh37
Build 368144,970,546 - 144,970,689RGDNCBI36
Celera8141,211,463 - 141,211,606RGD
Cytogenetic Map8q24.3UniSTS
HuRef8140,151,518 - 140,151,661UniSTS
GeneMap99-GB4 RH Map8563.83UniSTS
RH25368  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map8q24.3UniSTS
GeneMap99-GB4 RH Map8566.1UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR296hsa-miR-296-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI21643016
MIR296hsa-miR-296-5pOncomiRDBexternal_infoNANA21643016

Predicted Target Of
Summary Value
Count of predictions:2813
Count of miRNA genes:738
Interacting mature miRNAs:888
Transcripts:ENST00000320476, ENST00000356994, ENST00000377533, ENST00000525051, ENST00000526832, ENST00000531163, ENST00000531942, ENST00000546337
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.


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 3
Medium 2426 2139 1614 518 1336 360 4351 2017 3573 340 1442 1601 171 1202 2787 3
Low 12 848 110 106 607 105 4 178 142 78 7 8 2 2 1 1 2
Below cutoff 1 1 1 4 16 1 6 2 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_030583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_182706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC105219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF240677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF271734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF318352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI829609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY062238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC026045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC044627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D63481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000320476   ⟹   ENSP00000322938
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,790,920 - 143,815,379 (-)Ensembl
RefSeq Acc Id: ENST00000356994   ⟹   ENSP00000349486
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,790,925 - 143,815,773 (-)Ensembl
RefSeq Acc Id: ENST00000377533   ⟹   ENSP00000366756
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,790,926 - 143,814,968 (-)Ensembl
RefSeq Acc Id: ENST00000525051
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,790,925 - 143,793,588 (-)Ensembl
RefSeq Acc Id: ENST00000526832   ⟹   ENSP00000431519
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,790,925 - 143,804,151 (-)Ensembl
RefSeq Acc Id: ENST00000531163
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,790,925 - 143,791,542 (-)Ensembl
RefSeq Acc Id: ENST00000531942   ⟹   ENSP00000433546
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,805,252 - 143,808,677 (-)Ensembl
RefSeq Acc Id: ENST00000546337
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,792,609 - 143,794,236 (-)Ensembl
RefSeq Acc Id: ENST00000674065   ⟹   ENSP00000500991
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,804,568 - 143,805,435 (-)Ensembl
RefSeq Acc Id: ENST00000674084   ⟹   ENSP00000501177
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,790,920 - 143,815,379 (-)Ensembl
RefSeq Acc Id: NM_015356   ⟹   NP_056171
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,790,925 - 143,815,773 (-)NCBI
GRCh378144,873,090 - 144,897,890 (-)NCBI
Build 368144,945,078 - 144,969,537 (-)NCBI Archive
HuRef8140,126,075 - 140,150,540 (-)ENTREZGENE
CHM1_18144,913,332 - 144,937,791 (-)NCBI
Sequence:
RefSeq Acc Id: NM_182706   ⟹   NP_874365
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,790,925 - 143,815,773 (-)NCBI
GRCh378144,873,090 - 144,897,890 (-)NCBI
Build 368144,945,078 - 144,969,537 (-)NCBI Archive
HuRef8140,126,075 - 140,150,540 (-)ENTREZGENE
CHM1_18144,913,332 - 144,937,791 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_056171   ⟸   NM_015356
- Peptide Label: isoform b
- UniProtKB: Q14160 (UniProtKB/Swiss-Prot),   A0A0G2JNZ2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_874365   ⟸   NM_182706
- Peptide Label: isoform a
- UniProtKB: Q14160 (UniProtKB/Swiss-Prot),   A0A0G2JPP5 (UniProtKB/TrEMBL),   A0PJK8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000500991   ⟸   ENST00000674065
RefSeq Acc Id: ENSP00000501177   ⟸   ENST00000674084
RefSeq Acc Id: ENSP00000322938   ⟸   ENST00000320476
RefSeq Acc Id: ENSP00000433546   ⟸   ENST00000531942
RefSeq Acc Id: ENSP00000366756   ⟸   ENST00000377533
RefSeq Acc Id: ENSP00000431519   ⟸   ENST00000526832
RefSeq Acc Id: ENSP00000349486   ⟸   ENST00000356994
Protein Domains
PDZ

Promoters
RGD ID:7214383
Promoter ID:EPDNEW_H12938
Type:initiation region
Name:SCRIB_1
Description:scribbled planar cell polarity protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12939  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,815,309 - 143,815,369EPDNEW
RGD ID:7214385
Promoter ID:EPDNEW_H12939
Type:initiation region
Name:SCRIB_2
Description:scribbled planar cell polarity protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12938  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,815,420 - 143,815,480EPDNEW
RGD ID:6807015
Promoter ID:HG_KWN:62285
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC003YZN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368144,958,416 - 144,958,916 (-)MPROMDB
RGD ID:6806681
Promoter ID:HG_KWN:62286
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000377533,   ENST00000377539,   NM_015356,   NM_182706
Position:
Human AssemblyChrPosition (strand)Source
Build 368144,969,316 - 144,970,182 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:143684819-144287978)x1 copy number loss See cases [RCV000054310] Chr8:143684819..144287978 [GRCh38]
Chr8:144940777..145511679 [GRCh37]
Chr8:144838977..145482487 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:142201468-144002730)x1 copy number loss See cases [RCV000135981] Chr8:142201468..144002730 [GRCh38]
Chr8:143282829..145076898 [GRCh37]
Chr8:143280736..145148886 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1 copy number loss See cases [RCV000140913] Chr8:141738068..144140607 [GRCh38]
Chr8:142764538..145195510 [GRCh37]
Chr8:142823655..145267498 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144725942-145508436)x3 copy number gain See cases [RCV000447256] Chr8:144725942..145508436 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144779442-146113113)x3 copy number gain See cases [RCV000510396] Chr8:144779442..146113113 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3 copy number gain not provided [RCV000683020] Chr8:143815037..146295771 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144775871-144943223)x3 copy number gain not provided [RCV000747964] Chr8:144775871..144943223 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144808293-144943223)x3 copy number gain not provided [RCV000747968] Chr8:144808293..144943223 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144810306-144943223)x3 copy number gain not provided [RCV000747974] Chr8:144810306..144943223 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144811338-145058399)x3 copy number gain not provided [RCV000747975] Chr8:144811338..145058399 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144811340-144943223)x3 copy number gain not provided [RCV000747976] Chr8:144811340..144943223 [GRCh37]
Chr8:8q24.3
benign
NM_182706.5(SCRIB):c.643-10C>T single nucleotide variant not provided [RCV000980366] Chr8:143812971 [GRCh38]
Chr8:144895141 [GRCh37]
Chr8:8q24.3
likely benign
NM_182706.5(SCRIB):c.2289G>A (p.Val763=) single nucleotide variant not provided [RCV000914835] Chr8:143806464 [GRCh38]
Chr8:144888634 [GRCh37]
Chr8:8q24.3
benign
NM_182706.5(SCRIB):c.1713C>T (p.Phe571=) single nucleotide variant not provided [RCV000947144] Chr8:143809011 [GRCh38]
Chr8:144891181 [GRCh37]
Chr8:8q24.3
benign
NM_182706.5(SCRIB):c.4371G>A (p.Pro1457=) single nucleotide variant not provided [RCV000965090] Chr8:143792363 [GRCh38]
Chr8:144874533 [GRCh37]
Chr8:8q24.3
likely benign
NM_182706.5(SCRIB):c.4770+8del deletion not provided [RCV000898397] Chr8:143791658 [GRCh38]
Chr8:144873828 [GRCh37]
Chr8:8q24.3
likely benign
NM_182706.5(SCRIB):c.2190= (p.Thr730=) variation not provided [RCV000948352] Chr8:143807002 [GRCh38]
Chr8:144889172 [GRCh37]
Chr8:8q24.3
likely benign
NM_182706.5(SCRIB):c.846= (p.Thr282=) variation not provided [RCV000948353] Chr8:143812326 [GRCh38]
Chr8:144894496 [GRCh37]
Chr8:8q24.3
likely benign
GRCh37/hg19 8q24.3(chr8:144879444-145199846) copy number loss Verheij syndrome [RCV000767560] Chr8:144879444..145199846 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144868670-144912400) copy number loss not provided [RCV000767662] Chr8:144868670..144912400 [GRCh37]
Chr8:8q24.3
pathogenic
NM_182706.5(SCRIB):c.4029T>G (p.Pro1343=) single nucleotide variant not provided [RCV000968140] Chr8:143792856 [GRCh38]
Chr8:144875026 [GRCh37]
Chr8:8q24.3
benign
NM_182706.5(SCRIB):c.3120+10C>G single nucleotide variant not provided [RCV000963065] Chr8:143804036 [GRCh38]
Chr8:144886206 [GRCh37]
Chr8:8q24.3
benign
NM_182706.5(SCRIB):c.4707A>G (p.Gly1569=) single nucleotide variant not provided [RCV000922219] Chr8:143791729 [GRCh38]
Chr8:144873899 [GRCh37]
Chr8:8q24.3
likely benign
GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1 copy number loss not provided [RCV001006150] Chr8:142132678..145569441 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143616831-144930611)x1 copy number loss not provided [RCV001006152] Chr8:143616831..144930611 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3
pathogenic
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3 copy number gain not provided [RCV000847854] Chr8:144190206..146295771 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_182706.5(SCRIB):c.760C>T (p.Leu254=) single nucleotide variant not provided [RCV000886072] Chr8:143812844 [GRCh38]
Chr8:144895014 [GRCh37]
Chr8:8q24.3
benign
NM_182706.5(SCRIB):c.1476G>T (p.Arg492=) single nucleotide variant not provided [RCV000974097] Chr8:143810533 [GRCh38]
Chr8:144892703 [GRCh37]
Chr8:8q24.3
benign
NM_182706.5(SCRIB):c.3576= (p.Phe1192=) variation not provided [RCV000948351] Chr8:143803410 [GRCh38]
Chr8:144885580 [GRCh37]
Chr8:8q24.3
likely benign
NM_182706.5(SCRIB):c.4775C>T (p.Pro1592Leu) single nucleotide variant not provided [RCV000907450] Chr8:143791436 [GRCh38]
Chr8:144873606 [GRCh37]
Chr8:8q24.3
likely benign
NM_182706.5(SCRIB):c.4018-8C>G single nucleotide variant not provided [RCV000933786] Chr8:143792875 [GRCh38]
Chr8:144875045 [GRCh37]
Chr8:8q24.3
likely benign
NM_182706.5(SCRIB):c.1699-6G>A single nucleotide variant not provided [RCV000933787] Chr8:143809031 [GRCh38]
Chr8:144891201 [GRCh37]
Chr8:8q24.3
likely benign
NM_182706.5(SCRIB):c.2568C>T (p.Pro856=) single nucleotide variant not provided [RCV000912338] Chr8:143805214 [GRCh38]
Chr8:144887384 [GRCh37]
Chr8:8q24.3
likely benign
NM_182706.5(SCRIB):c.1941T>C (p.Asn647=) single nucleotide variant not provided [RCV000891061] Chr8:143808783 [GRCh38]
Chr8:144890953 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
NM_182706.5(SCRIB):c.2882A>G (p.His961Arg) single nucleotide variant Microcephaly [RCV001252724] Chr8:143804695 [GRCh38]
Chr8:144886865 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3 copy number gain not provided [RCV001259034] Chr8:144262042..146295771 [GRCh37]
Chr8:8q24.3
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30377 AgrOrtholog
COSMIC SCRIB COSMIC
Ensembl Genes ENSG00000180900 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000274287 UniProtKB/TrEMBL
Ensembl Protein ENSP00000322938 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000349486 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000366756 UniProtKB/Swiss-Prot
  ENSP00000431519 UniProtKB/TrEMBL
  ENSP00000433546 UniProtKB/TrEMBL
  ENSP00000479898 UniProtKB/TrEMBL
  ENSP00000482406 UniProtKB/TrEMBL
  ENSP00000484041 UniProtKB/TrEMBL
  ENSP00000487699 UniProtKB/TrEMBL
  ENSP00000487972 UniProtKB/TrEMBL
  ENSP00000500991 UniProtKB/TrEMBL
  ENSP00000501177 UniProtKB/TrEMBL
Ensembl Transcript ENST00000320476 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000356994 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000377533 UniProtKB/Swiss-Prot
  ENST00000526832 UniProtKB/TrEMBL
  ENST00000531942 UniProtKB/TrEMBL
  ENST00000611528 UniProtKB/TrEMBL
  ENST00000612204 UniProtKB/TrEMBL
  ENST00000622455 UniProtKB/TrEMBL
  ENST00000633098 UniProtKB/TrEMBL
  ENST00000634208 UniProtKB/TrEMBL
  ENST00000674065 UniProtKB/TrEMBL
  ENST00000674084 UniProtKB/TrEMBL
Gene3D-CATH 2.30.42.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.80.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000180900 GTEx
  ENSG00000274287 GTEx
HGNC ID HGNC:30377 ENTREZGENE
Human Proteome Map SCRIB Human Proteome Map
InterPro Leu-rich_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Leu-rich_rpt_typical-subtyp UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23513 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 23513 ENTREZGENE
OMIM 607733 OMIM
Pfam LRR_8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134936275 PharmGKB
PROSITE LRR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART LRR_TYP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50156 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0G2JMS7_HUMAN UniProtKB/TrEMBL
  A0A0G2JNZ2 ENTREZGENE, UniProtKB/TrEMBL
  A0A0G2JPP5 ENTREZGENE, UniProtKB/TrEMBL
  A0A669KAX5_HUMAN UniProtKB/TrEMBL
  A0A669KB89_HUMAN UniProtKB/TrEMBL
  A0PJK8 ENTREZGENE, UniProtKB/TrEMBL
  H0YCG0_HUMAN UniProtKB/TrEMBL
  H0YDF9_HUMAN UniProtKB/TrEMBL
  Q14160 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q6P496 UniProtKB/Swiss-Prot
  Q7Z5D1 UniProtKB/Swiss-Prot
  Q8WWV8 UniProtKB/Swiss-Prot
  Q96C69 UniProtKB/Swiss-Prot
  Q96GG1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-15 SCRIB  scribble planar cell polarity protein    scribbled planar cell polarity protein  Symbol and/or name change 5135510 APPROVED
2013-03-12 SCRIB  scribbled planar cell polarity protein    scribbled homolog (Drosophila)  Symbol and/or name change 5135510 APPROVED