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NXPH2 neurexophilin 2 [ Homo sapiens (human) ]

Gene ID: 11249, updated on 5-Aug-2022

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, Apr 2022]
Expression
Biased expression in ovary (RPKM 3.7), kidney (RPKM 2.6) and 2 other tissues See more
Orthologs
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Genomic context

See NXPH2 in Genome Data Viewer
Location:
2q22.1
Exon count:
2
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (138669157..138780390, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (139114820..139226050, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (139426727..139537960, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905958 Neighboring gene long intergenic non-protein coding RNA 2631 Neighboring gene RN7SK pseudogene 286 Neighboring gene YY1 transcription factor pseudogene 2

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

EBI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC125477, MGC125478, MGC125479, MGC125480

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
 
enables signaling receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 

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)

  1. NM_007226.3NP_009157.1  neurexophilin-2 precursor

    See identical proteins and their annotated locations for NP_009157.1

    Status: VALIDATED

    Source sequence(s)
    AC092620, AC092837, BC101462
    Consensus CDS
    CCDS46421.1
    UniProtKB/Swiss-Prot
    O95156, Q75QC3
    Related
    ENSP00000272641.3, ENST00000272641.4
    Conserved Domains (1) summary
    pfam06312
    Location:72264
    Neurexophilin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    138669157..138780390 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    139114820..139226050 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)