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    NXPE2 neurexophilin and PC-esterase domain family member 2 [ Homo sapiens (human) ]

    Gene ID: 120406, updated on 10-Dec-2024

    Summary

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    Official Symbol
    NXPE2provided by HGNC
    Official Full Name
    neurexophilin and PC-esterase domain family member 2provided by HGNC
    Primary source
    HGNC:HGNC:26331
    See related
    Ensembl:ENSG00000204361 AllianceGenome:HGNC:26331
    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
    FAM55B
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in colon (RPKM 2.7), salivary gland (RPKM 0.7) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NXPE2 in Genome Data Viewer
    Location:
    11q23.2-q23.3
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (114464276..114813702)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (114474694..114824997)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (114549249..114577791)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene nocturnin pseudogene Neighboring gene MPRA-validated peak1476 silencer Neighboring gene small nucleolar RNA U13 Neighboring gene RNA exonuclease 2 Neighboring gene histone deacetylase 2 pseudogene Neighboring gene neurexophilin and PC-esterase domain family member 2 pseudogene 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:114473708-114474907 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3916 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3917 Neighboring gene neurexophilin and PC-esterase domain family member 1 Neighboring gene neurexophilin and PC-esterase domain family member 4 Neighboring gene uncharacterized LOC105369506 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:114717517-114718016 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:114757957-114759156 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:114800269-114800769 Neighboring gene NANOG hESC enhancer GRCh37_chr11:115035341-115035883 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:115079540-115080739 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:115093260-115094068 Neighboring gene NANOG hESC enhancer GRCh37_chr11:115141547-115142048 Neighboring gene cell adhesion molecule 1 Neighboring gene Sharpr-MPRA regulatory region 15022 Neighboring gene uncharacterized LOC105369509 Neighboring gene CADM1 antisense RNA 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Large-scale interaction profiling of PDZ domains through proteomic peptide-phage display using human and viral phage peptidomes. Ivarsson Y, et al. Proc Natl Acad Sci U S A, 2014 Feb 18. PMID 24550280, Free PMC Article
    2. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
    3. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    GeneRIFs: Gene References Into Functions

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ25224

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    NXPE family member 2
    Names
    family with sequence similarity 55, member B
    protein FAM55B

    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_182495.6 → NP_872301.2  NXPE family member 2

      See identical proteins and their annotated locations for NP_872301.2

      Status: VALIDATED

      Source sequence(s)
      AP002774
      Consensus CDS
      CCDS44738.1
      UniProtKB/Swiss-Prot
      Q2NKI8, Q96DL1
      Related
      ENSP00000374237.4, ENST00000389586.6
      Conserved Domains (1) summary
      pfam06312
      Location:142 → 274
      Neurexophilin

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      114464276..114813702
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017017209.2 → XP_016872698.1  NXPE family member 2 isoform X2

      Conserved Domains (1) summary
      pfam06312
      Location:118 → 250
      Neurexophilin; Neurexophilin

    2. XM_017017207.2 → XP_016872696.1  NXPE family member 2 isoform X2

      Conserved Domains (1) summary
      pfam06312
      Location:118 → 250
      Neurexophilin; Neurexophilin

    3. XM_011542604.3 → XP_011540906.1  NXPE family member 2 isoform X2

      See identical proteins and their annotated locations for XP_011540906.1

      Conserved Domains (1) summary
      pfam06312
      Location:118 → 250
      Neurexophilin; Neurexophilin

    4. XM_017017212.2 → XP_016872701.1  NXPE family member 2 isoform X4

    5. XM_017017211.2 → XP_016872700.1  NXPE family member 2 isoform X3

    6. XM_017017206.2 → XP_016872695.1  NXPE family member 2 isoform X1

    RNA

    1. XR_001747769.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      114474694..114824997
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054367681.1 → XP_054223656.1  NXPE family member 2 isoform X2

    2. XM_054367680.1 → XP_054223655.1  NXPE family member 2 isoform X2

    3. XM_054367679.1 → XP_054223654.1  NXPE family member 2 isoform X2

    4. XM_054367682.1 → XP_054223657.1  NXPE family member 2 isoform X2

    5. XM_054367684.1 → XP_054223659.1  NXPE family member 2 isoform X4

    6. XM_054367683.1 → XP_054223658.1  NXPE family member 2 isoform X3

    7. XM_054367678.1 → XP_054223653.1  NXPE family member 2 isoform X1

    RNA

    1. XR_008488342.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96DL1.2 GenPept UniProtKB/Swiss-Prot:Q96DL1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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