NOTCH2 notch 2 [Homo sapiens (human)] - Gene

Summary

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Official Symbol: NOTCH2provided by HGNC
Official Full Name: notch 2provided by HGNC
Primary source: HGNC:7882
See related: Ensembl:ENSG00000134250; HPRD:02606; MIM:600275; Vega:OTTHUMG00000012177
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: hN2; AGS2; HJCYS
Summary: This gene encodes a member of the Notch family. Members of this Type 1 transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple, different domain types. Notch family members play a role in a variety of developmental processes by controlling cell fate decisions. The Notch signaling network is an evolutionarily conserved intercellular signaling pathway which regulates interactions between physically adjacent cells. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signaling pathway that plays a key role in development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remain to be determined. This protein is cleaved in the trans-Golgi network, and presented on the cell surface as a heterodimer. This protein functions as a receptor for membrane bound ligands, and may play a role in vascular, renal and hepatic development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]

Genomic context

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Location :: 1p13-p11

Sequence :: Chromosome: 1; NC_000001.10 (120454176..120612317, complement)

See NOTCH2 in Epigenomics, MapViewer

Chromosome 1 - NC_000001.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

These data indicate that Notch signaling controls human CD8(+) T cell priming and also influences effector T cell functions.
Title: Notch controls generation and function of human effector CD8+ T cells.
Findings indicate a critical role for the midkine-Notch2 signaling axis in neuroblastoma tumorigenesis, which implicates new strategies to treat neuroblastoma.
Title: Midkine promotes neuroblastoma through Notch2 signaling.
Taken together, the GSK3B, CTNNB1 and NOTCH2 expression signature is a novel, promising prognostic parameter for gastric cancer
Title: Expression profiling of stem cell-related genes in neoadjuvant-treated gastric cancer: a NOTCH2, GSK3B and β-catenin gene signature predicts survival.
Inactivating mutations are found in Notch2 signaling pathways in chronic myelomonocytic leukemia, while activating mutations are found in mature B cell lymphomas. (Review)
Title: Notch2 and immune function.
Data indicate that force applied to the Notch2 negative regulatory region (NRR) can indeed expose the S2 site and, crucially, allow cleavage by the metalloprotease TACE (TNF-alpha-converting enzyme).
Title: Direct observation of proteolytic cleavage at the S2 site upon forced unfolding of the Notch negative regulatory region.
Characterization of CSL (CBF-1, Su(H), Lag-1) mutants reveals differences in signaling mediated by Notch1 and Notch2.
Title: Characterization of CSL (CBF-1, Su(H), Lag-1) mutants reveals differences in signaling mediated by Notch1 and Notch2.
suppression of tumor progression by Notch2 knockdown in SC-M1 cells was reversed by exogenous COX-2 or its major enzymatic product PGE(2)
Title: Notch2-induced COX-2 expression enhancing gastric cancer progression.
NOTCH2 mutations play a role in the pathogenesis and progression of the splenic marginal zone lymphoma and are associated with a poor prognosis.
Title: Whole-genome sequencing identifies recurrent somatic NOTCH2 mutations in splenic marginal zone lymphoma.
Mutations in NOTCH2, a gene required for marginal-zone B cell development, represent the most frequent lesion in splenic marginal zone lymphoma
Title: The coding genome of splenic marginal zone lymphoma: activation of NOTCH2 and other pathways regulating marginal zone development.
immunohistochemical analysis of NOTCH1-3, JAGGED1, cMET, and phospho-MAPK in 100 carcinomas of unknown primary
Title: Profiling immunohistochemical expression of NOTCH1-3, JAGGED1, cMET, and phospho-MAPK in 100 carcinomas of unknown primary.

Submit: New GeneRIF Correction See all (78)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Alagille syndrome (ALGS) is a complex multisystem disorder involving primarily the liver, heart, eyes, face, and skeleton. The clinical features are highly variable, even within families. The major clinical manifestations of ALGS are cholestasis, characterized by bile duct paucity on liver biopsy; congenital cardiac defects, primarily involving the pulmonary arteries; posterior embryotoxon in the eye; typical facial features; and butterfly vertebrae. Renal and central nervous abnormalities also occur. Mortality is approximately 10%, with vascular accidents, cardiac disease, and liver disease accounting for most of the deaths.

Diagnosis Testing

The diagnosis of ALGS is primarily based on clinical findings. The two genes in which mutations are known to cause ALGS are JAG1 and NOTCH2. Sequence analysis of JAG1 detects mutations in more than 89% of individuals who meet clinical diagnostic criteria; deletion/duplication analysis detects exonic and whole-gene deletions, including microdeletion of 20p12, in approximately 7% of affected individuals. Mutations in NOTCH2 are observed in 1%-2% of individuals with ALGS.

Genetic Counseling

ALGS is inherited in an autosomal dominant manner. Approximately 30%-50% of individuals have an inherited mutation and about 50%-70% have a de novo mutation. The parents of a child with a de novo mutation have a low but increased risk for recurrence because of the possibility of germline mosaicism. The offspring of an individual with Alagille syndrome have a 50% chance of having Alagille syndrome. Prenatal testing for pregnancies at increased risk is possible if the disease-causing mutation in an affected family member is known. Prenatal testing cannot predict the occurrence or severity of clinical manifestations.

References

PMID: 20301450

Hajdu-Cheney syndrome

MIM: 102500

Genetic Testing Registry

NHGRI GWAS Catalog

Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.

HIV-1 protein interactions

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Protein	Gene	Interaction	Pubs
Tat, p14	tat	HIV-1 Tat interacts with the EGF-like repeats 1-6 (amino acids 26-256) of Human Notch2, suggesting Tat might modulate Notch2 function, thus affecting various AIDS-associated pathologies	PubMed

Go to the HIV-1, Human Protein Interaction Database

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_077719.2	NP_057853.1	tat	BIND	PubMed	Tat interacts with Notch2.
Q04721	Q12860	CNTN1	HPRD	PubMed
Q04721	O00548	DLL1	HPRD	PubMed
Q04721	Q86Y01	DTX1	HPRD	PubMed
Q04721	P49841	GSK3B	HPRD	PubMed
Q04721	P78504	JAG1	HPRD	PubMed
Q04721	Q9Y219	JAG2	HPRD	PubMed
Q04721	Q8NES3	LFNG	HPRD	PubMed
Q04721	Q92585	MAML1	HPRD	PubMed
Q04721	Q8IZL2	MAML2	HPRD	PubMed
Q04721	Mastermind like 3	MAML3	HPRD	PubMed
Q04721	O00587	MFNG	HPRD	PubMed
Q04721	Q99972	MYOC	HPRD	PubMed
Q04721	P49768	PSEN1	HPRD	PubMed
Q04721	P49810	PSEN2	HPRD	PubMed
Q04721	Q06330	RBPJ	HPRD	PubMed
Q04721	Q15797	SMAD1	HPRD	PubMed
BioGRID:110915	BioGRID:107672	CNTN1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110915	BioGRID:107789	CRKL	BioGRID	PubMed	Two-hybrid
BioGRID:110915	BioGRID:118391	DLL1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:110915	BioGRID:109187	GSK3B	BioGRID	PubMed	Affinity Capture-Western; Biochemical Activity; Reconstituted Complex
BioGRID:110915	BioGRID:106689	JAG1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:110915	BioGRID:109918	JAG2	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:110915	BioGRID:115138	MAML1	BioGRID	PubMed	Reconstituted Complex
BioGRID:110915	BioGRID:110736	MYOC	BioGRID	PubMed	Two-hybrid
BioGRID:110915	BioGRID:110802	NDUFV1	BioGRID	PubMed	Co-fractionation
BioGRID:110915	BioGRID:110807	NDUFV2	BioGRID	PubMed	Co-fractionation
BioGRID:110915	BioGRID:110913	NOTCH1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110915	BioGRID:111141	PCMT1	BioGRID	PubMed	Co-fractionation
BioGRID:110915	BioGRID:111345	PLAUR	BioGRID	PubMed	Co-fractionation
BioGRID:110915	BioGRID:111662	PSMB1	BioGRID	PubMed	Co-fractionation
BioGRID:110915	BioGRID:109736	RBPJ	BioGRID	PubMed	Two-hybrid
BioGRID:110915	BioGRID:114991	SEC24C	BioGRID	PubMed	Co-fractionation
BioGRID:110915	BioGRID:117439	SIN3A	BioGRID	PubMed	Co-fractionation
BioGRID:110915	BioGRID:110261	SMAD1	BioGRID	PubMed	Two-hybrid
BioGRID:110915	BioGRID:116655	SPEN	BioGRID	PubMed	Co-fractionation
BioGRID:110915	BioGRID:112937	TJP1	BioGRID	PubMed	Co-fractionation
BioGRID:110915	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Pathways from BioSystems

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Delta-Notch Signaling Pathway, organism-specific biosystem (from WikiPathways)
Delta-Notch Signaling Pathway, organism-specific biosystemThere are 4 Notch receptors in humans (Notch 1-4) that bind to a family of 5 ligands (Jagged 1 and 2 and Delta-like 1-3). The Notch receptors are expressed on the cell surface as heterodimeric protei...
Dorso-ventral axis formation, organism-specific biosystem (from KEGG)
Dorso-ventral axis formation, organism-specific biosystem
Dorso-ventral axis formation
Dorso-ventral axis formation, conserved biosystem (from KEGG)
Dorso-ventral axis formation, conserved biosystem
Dorso-ventral axis formation
Gene Expression, organism-specific biosystem (from REACTOME)
Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
NOTCH2 Activation and Transmission of Signal to the Nucleus, organism-specific biosystem (from REACTOME)
NOTCH2 Activation and Transmission of Signal to the Nucleus, organism-specific biosystemSimilar to NOTCH1, NOTCH2 is activated by delta-like and jagged ligands (DLL/JAG) expressed in trans on a neighboring cell (Shimizu et al. 1999, Shimizu et al. 2000, Hicks et al. 2000, Ji et al. 2004...
Neural Crest Differentiation, organism-specific biosystem (from WikiPathways)
Neural Crest Differentiation, organism-specific biosystemGene regulatory network model of cranial neural crest cell (CNCC) development, adaped from PMID: 19575671. Most interactions in the model are proposed to regulate transcription of core factors involv...
Notch Signaling Pathway, organism-specific biosystem (from WikiPathways)
Notch Signaling Pathway, organism-specific biosystemThe Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in all metazoan organisms in the Animal kingdom. The Notch pro...
Notch signaling pathway, organism-specific biosystem (from KEGG)
Notch signaling pathway, organism-specific biosystemThe Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in all metazoan organisms in the Animal kingdom. The Notch pro...
Notch signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
Notch signaling pathway, organism-specific biosystem
Notch signaling pathway
Notch signaling pathway, conserved biosystem (from KEGG)
Notch signaling pathway, conserved biosystemThe Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in all metazoan organisms in the Animal kingdom. The Notch pro...
Notch-HLH transcription pathway, organism-specific biosystem (from REACTOME)
Notch-HLH transcription pathway, organism-specific biosystemTHE NOTCH-HLH TRANSCRIPTION PATHWAY: Notch signaling was first identified in Drosophila, where it has been studied in detail at the genetic, molecular, biochemical and cellular levels (reviewed in ...
Pre-NOTCH Expression and Processing, organism-specific biosystem (from REACTOME)
Pre-NOTCH Expression and Processing, organism-specific biosystemIn humans and other mammals the NOTCH gene family has four members, NOTCH1, NOTCH2, NOTCH3 and NOTCH4, encoded on four different chromosomes. Their transcription is developmentally regulated and tiss...
Pre-NOTCH Processing in Golgi, organism-specific biosystem (from REACTOME)
Pre-NOTCH Processing in Golgi, organism-specific biosystemNOTCH undergoes final posttranslational processing in the Golgi apparatus (Lardelli et al. 1994, Blaumueller et al. 1997, Weinmaster et al. 1991, Weinmaster et al. 1992, Uyttendaele et al. 1996). Mov...
Pre-NOTCH Processing in the Endoplasmic Reticulum, organism-specific biosystem (from REACTOME)
Pre-NOTCH Processing in the Endoplasmic Reticulum, organism-specific biosystemIn the endoplasmic reticulum, glycosyl transferases modify NOTCH precursors by glycosylating conserved serine and threonine residues in EGF repeats of NOTCH. O-fucosyl transferase POFUT1 fucosylates...
Pre-NOTCH Transcription and Translation, organism-specific biosystem (from REACTOME)
Pre-NOTCH Transcription and Translation, organism-specific biosystemIn humans, the NOTCH protein family has four members: NOTCH1, NOTCH2, NOTCH3 and NOTCH4. NOTCH1 protein was identified first, as the product of a chromosome 9 gene translocated in T-cell acute lympho...
Signal Transduction, organism-specific biosystem (from REACTOME)
Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
Signaling by NOTCH, organism-specific biosystem (from REACTOME)
Signaling by NOTCH, organism-specific biosystemThe Notch Signaling Pathway (NSP) is a highly conserved pathway for cell-cell communication. NSP is involved in the regulation of cellular differentiation, proliferation, and specification. For exam...
Signaling by NOTCH2, organism-specific biosystem (from REACTOME)
Signaling by NOTCH2, organism-specific biosystemNOTCH2 is activated by binding delta-like and jagged ligands (DLL/JAG) expressed in trans on a neighboring cell (Shimizu et al. 1999, Shimizu et al. 2000, Hicks et al. 2000, Ji et al. 2004). In trans...

General gene information

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Markers

SHGC-75405 (e-PCR)
- UniSTS:10001

Cda0hb04 (e-PCR)
- UniSTS:35355

NOTCH2_1357 (e-PCR)
- UniSTS:277535

G63387 (e-PCR)
- UniSTS:140351

RH120586 (e-PCR)
- UniSTS:132419

G62977 (e-PCR)
- UniSTS:140102

G62978 (e-PCR)
- UniSTS:140103

SHGC-106854 (e-PCR)
- UniSTS:170056

SHGC-75400 (e-PCR)
- UniSTS:26191

SHGC-152728 (e-PCR)
- UniSTS:184937

RH123942 (e-PCR)
- UniSTS:136317

AL034022 (e-PCR)
- UniSTS:93569

SHGC-54558 (e-PCR)
- UniSTS:8614

RH69557 (e-PCR)
- UniSTS:87239

RH123510 (e-PCR)
- UniSTS:135886

AL033980 (e-PCR)
- UniSTS:93392

D1S2696 (e-PCR)
- UniSTS:211

G19892 (e-PCR)
- UniSTS:76761

A002B26 (e-PCR)
- UniSTS:76762

AL033805 (e-PCR)
- UniSTS:93663

Genotypes

See NOTCH2 SNP Geneview Report
See NOTCH2 SNP Genotype Report
See NOTCH2 SNP Variation Viewer Report

Related pseudogene(s)

1 found Review record(s) in Gene

Homology

Homologs of the NOTCH2 gene: The NOTCH2 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, and zebrafish.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
calcium ion binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
receptor activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
Notch receptor processing	TAS Traceable Author Statement more info
Notch signaling involved in heart development	IC Inferred by Curator more info	PubMed
Notch signaling pathway	TAS Traceable Author Statement more info
atrial septum morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
bone remodeling	IMP Inferred from Mutant Phenotype more info
cell cycle arrest	IDA Inferred from Direct Assay more info	PubMed
cell fate determination	TAS Traceable Author Statement more info	PubMed
cell growth	IDA Inferred from Direct Assay more info	PubMed
determination of left/right symmetry	IEA Inferred from Electronic Annotation more info
embryonic limb morphogenesis	IEA Inferred from Electronic Annotation more info
gene expression	TAS Traceable Author Statement more info
hemopoiesis	TAS Traceable Author Statement more info	PubMed
humoral immune response	IEA Inferred from Electronic Annotation more info
in utero embryonic development	IEA Inferred from Electronic Annotation more info
induction of apoptosis	TAS Traceable Author Statement more info	PubMed
inflammatory response to antigenic stimulus	IEA Inferred from Electronic Annotation more info
interleukin-4 secretion	IEA Inferred from Electronic Annotation more info
morphogenesis of an epithelial sheet	IEA Inferred from Electronic Annotation more info
multicellular organismal development	NAS Non-traceable Author Statement more info	PubMed
negative regulation of apoptotic process	TAS Traceable Author Statement more info	PubMed
negative regulation of cell proliferation	IDA Inferred from Direct Assay more info	PubMed
nervous system development	NAS Non-traceable Author Statement more info	PubMed
organ morphogenesis	IEP Inferred from Expression Pattern more info	PubMed
placenta blood vessel development	IEA Inferred from Electronic Annotation more info
positive regulation of Ras protein signal transduction	IDA Inferred from Direct Assay more info	PubMed
pulmonary valve morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of transcription, DNA-dependent	TAS Traceable Author Statement more info	PubMed
stem cell maintenance	TAS Traceable Author Statement more info	PubMed
transcription initiation from RNA polymerase II promoter	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
Golgi membrane	TAS Traceable Author Statement more info
cell surface	IDA Inferred from Direct Assay more info	PubMed
endoplasmic reticulum membrane	TAS Traceable Author Statement more info
extracellular region	TAS Traceable Author Statement more info
integral to plasma membrane	IDA Inferred from Direct Assay more info	PubMed
nucleoplasm	TAS Traceable Author Statement more info
nucleus	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: neurogenic locus notch homolog protein 2

Names: neurogenic locus notch homolog protein 2; Notch homolog 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008163.1 RefSeqGene

Range

4960..163101

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001200001.1 → NP_001186930.1 neurogenic locus notch homolog protein 2 isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AF315356, BC071562, DB290699

UniProtKB/Swiss-Prot

Q04721

UniProtKB/TrEMBL

Q6IQ50

Conserved Domains (3) summary

cd00054
Location:182 – 219
Blast Score: 104

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

smart00179
Location:1187 – 1216
Blast Score: 88

EGF_CA; Calcium-binding EGF-like domain

cl09941
Location:260 – 296
Blast Score: 78

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
NM_024408.3 → NP_077719.2 neurogenic locus notch homolog protein 2 isoform 1 preproprotein

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AF315356, AL133036, BC071562, DB290699

Consensus CDS

CCDS908.1

UniProtKB/Swiss-Prot

Q04721

UniProtKB/TrEMBL

Q6IQ50

UniProtKB/TrEMBL

Q9UFD5

Related

ENSP00000256646, OTTHUMP00000014035, ENST00000256646, OTTHUMT00000033679

Conserved Domains (10) summary

cd00054
Location:182 – 219
Blast Score: 120

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

cd00204
Location:1938 – 2062
Blast Score: 274

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

pfam11936
Location:2380 – 2416
Blast Score: 115

DUF3454; Domain of unknown function (DUF3454)

pfam06816
Location:1539 – 1595
Blast Score: 285

NOD; NOTCH protein

pfam07684
Location:1617 – 1673
Blast Score: 173

NODP; NOTCH protein

pfam00066
Location:1499 – 1534
Blast Score: 129

Notch; LNR domain

pfam12796
Location:1948 – 2040
Blast Score: 210

Ank_2; Ankyrin repeats (3 copies)

pfam13857
Location:1896 – 1951
Blast Score: 115

Ank_5; Ankyrin repeats (many copies)

cl02419
Location:1459 – 1496
Blast Score: 88

Notch; LNR domain

cl09941
Location:575 – 601
Blast Score: 80

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 PATCHES

Genomic

NW_003871056.1 Reference GRCh37.p10 PATCHES

Range

549..141277, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000001.10 Reference GRCh37.p10 Primary Assembly

Range

120454176..120612317, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000133.1 Alternate HuRef

Range

118312713..118398477, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018912.1 Alternate CHM1_1.0

Range

120525839..120683986, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01068518.1 (199902..248520)	None
genomic	ABBA01068519.1	None
genomic	AC245008.1 (76436..110100)	None
genomic	AL359752.11 (121082..137955)	None
genomic	AL512503.14 (2549..109612)	None
genomic	AL596222.13	CAH70182.1
genomic	AMYH01000980.1 (198919..357066)	None
genomic	CH471122.1	EAW56718.1
		EAW56719.1
genomic	U50549.1	AAB17664.1
genomic	X80115.1	None
mRNA	AF308601.1	AAA36377.2
mRNA	AF315356.1	AAG37073.1
mRNA	AK027869.1	BAB55419.1
mRNA	AK307843.1	None
mRNA	AL049386.1	None
mRNA	AL133036.1	CAB61366.1
mRNA	BC071562.1	AAH71562.2
mRNA	BG718124.1	None
mRNA	DB290699.1	None
mRNA	GQ231534.1	ADB12482.1
mRNA	U77493.1	AAB19224.1