NXPH2 neurexophilin 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NXPH2provided by HGNC
Official Full Name: neurexophilin 2provided by HGNC
Primary source: HGNC:HGNC:8076
See related: Ensembl:ENSG00000144227 MIM:604635; AllianceGenome:HGNC:8076
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: NPH2
Summary: Predicted to enable signaling receptor binding activity. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in ovary (RPKM 3.7), kidney (RPKM 2.6) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q22.1

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (138669157..138780390, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (139114820..139226050, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (139426727..139537960, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

expression inversely correlated with N stage in pancreatic ductal adenocarcinoma
Title: The detection of tumor location and lymph node metastasis by aberrant NXPH1 and NXPH2 expressions in pancreatic ductal adenocarcinomas.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study of alcohol dependence implicates KIAA0040 on chromosome 1q. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide study of single-nucleotide polymorphisms associated with azoospermia and severe oligozoospermia. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:487046

D2S2688 (e-PCR)
- UniSTS:38608

Clone Names

MGC125477, MGC125478, MGC125479, MGC125480

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables signaling receptor binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in neuropeptide signaling pathway	NAS Non-traceable Author Statement more info	PubMed

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

General protein information

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Preferred Names: neurexophilin-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.