NOTCH2NLA notch 2 N-terminal like A [Homo sapiens (human)] - Gene

Summary

Official Symbol: NOTCH2NLAprovided by HGNC
Official Full Name: notch 2 N-terminal like Aprovided by HGNC
Primary source: HGNC:HGNC:31862
See related: Ensembl:ENSG00000264343 MIM:618023; AllianceGenome:HGNC:31862
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: N2N; NOTCH2NL
Summary: Enables Notch binding activity. Involved in cerebral cortex development and positive regulation of Notch signaling pathway. Predicted to be located in cytoplasm and extracellular region. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in testis (RPKM 12.1), skin (RPKM 6.6) and 25 other tissues See more
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Genomic context

Location:: 1q21.1

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (146148865..146229021, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (145265708..145345897, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (145209124..145289312)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Evolution of Human Brain Size-Associated NOTCH2NL Genes Proceeds toward Reduced Protein Levels.
Title: Evolution of Human Brain Size-Associated NOTCH2NL Genes Proceeds toward Reduced Protein Levels.
the emergence of human-specific NOTCH2NL genes may have contributed to the rapid evolution of the larger human neocortex, accompanied by loss of genomic stability at the 1q21.1 locus and resulting recurrent neurodevelopmental disorders
Title: Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical Neurogenesis.

Submit: New GeneRIF Correction

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of notch 2 N-terminal like (NOTCH2NL) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10S275 (e-PCR)
- UniSTS:147992

AU048745 (e-PCR)
- UniSTS:145195

G63387 (e-PCR)
- UniSTS:140351

RH120586 (e-PCR)
- UniSTS:132419

G62977 (e-PCR)
- UniSTS:140102

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

RH123942 (e-PCR)
- UniSTS:136317

AL034022 (e-PCR)
- UniSTS:93569

RH69609 (e-PCR)
- UniSTS:91073

RH69557 (e-PCR)
- UniSTS:87239

RH123510 (e-PCR)
- UniSTS:135886

AL033980 (e-PCR)
- UniSTS:93392

AL033805 (e-PCR)
- UniSTS:93663

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables Notch binding	IPI Inferred from Physical Interaction more info	PubMed
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Notch signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in cerebral cortex development	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of Notch signaling pathway	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: notch homolog 2 N-terminal-like protein A

Names: Notch homolog 2 N-terminal like protein

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.

mRNA and Protein(s)

NM_001364006.2 → NP_001350935.1 notch homolog 2 N-terminal-like protein A isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate splice site at a 5' exon compared to variant 1. This difference is predicted to result in the use of an upstream start codon and an isoform (2) with a longer N-terminus compared to isoform 1.

Source sequence(s)

AC239799

UniProtKB/TrEMBL

B4DF04

Conserved Domains (1) summary

cd00054
Location:156 → 192

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_001395231.1 → NP_001382160.1 notch homolog 2 N-terminal-like protein A isoform 3

Status: VALIDATED

Source sequence(s)

AC239799

UniProtKB/TrEMBL

A0A8I5KY86

Conserved Domains (1) summary

cd00054
Location:156 → 192

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_001395232.1 → NP_001382161.1 notch homolog 2 N-terminal-like protein A isoform 4

Status: VALIDATED

Source sequence(s)

AC239799

Consensus CDS

CCDS91035.1

UniProtKB/TrEMBL

A0A8I5KR58, A0A8I5KY86

Related

ENSP00000508786.1, ENST00000688759.1

Conserved Domains (1) summary

cd00054
Location:143 → 179

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_203458.6 → NP_982283.2 notch homolog 2 N-terminal-like protein A isoform 1

See identical proteins and their annotated locations for NP_982283.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes isoform 1.

Source sequence(s)

AC239799

Consensus CDS

CCDS72880.1

UniProtKB/Swiss-Prot

Q5BKT8, Q5VTG9, Q5XG84, Q6P192, Q7Z3S9, Q8NC23, Q8WUQ9, Q96FY1

UniProtKB/TrEMBL

B4DF04

Related

ENSP00000354929.6, ENST00000362074.8

Conserved Domains (1) summary

cd00054
Location:143 → 179

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 ...