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NEPNP nephrocan, pseudogene [ Homo sapiens (human) ]

Gene ID: 442253, updated on 2-Nov-2024

Summary

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Official Symbol
NEPNPprovided by HGNC
Official Full Name
nephrocan, pseudogeneprovided by HGNC
Primary source
HGNC:HGNC:33184
See related
AllianceGenome:HGNC:33184
Gene type
pseudo
RefSeq status
INFERRED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NPN; NEPN
Summary
Nephrocan is a secreted glycoprotein that acts as an inhibitor of the transforming growth factor-beta signaling pathway. This gene has been inactivated by mutation and is nonfunctional in humans. [provided by RefSeq, May 2010]
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Genomic context

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See NEPNP in Genome Data Viewer
Location:
6q22.1
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (117602928..117645087)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (118787169..118829325)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (117924091..117966250)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 253, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17498 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17499 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25001 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25002 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25003 Neighboring gene discoidin, CUB and LCCL domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25004 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25005 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25006 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25007 Neighboring gene golgi associated PDZ and coiled-coil motif containing Neighboring gene Sharpr-MPRA regulatory region 12404 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25008 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25009 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:117936764-117937504 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25010 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25011 Neighboring gene uncharacterized LOC101927919 Neighboring gene MPRA-validated peak6055 silencer Neighboring gene NUS1 dehydrodolichyl diphosphate synthase subunit

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Nephrocan, a novel member of the small leucine-rich repeat protein family, is an inhibitor of transforming growth factor-beta signaling. Mochida Y, et al. J Biol Chem, 2006 Nov 24. PMID 16990280
  2. Comparative genomics search for losses of long-established genes on the human lineage. Zhu J, et al. PLoS Comput Biol, 2007 Dec. PMID 18085818, Free PMC Article
  3. Identification and analysis of unitary pseudogenes: historic and contemporary gene losses in humans and other primates. Zhang ZD, et al. Genome Biol, 2010. PMID 20210993, Free PMC Article
  4. Analysis of the Histone H3.1 Interactome: A Suitable Chaperone for the Right Event. Campos EI, et al. Mol Cell, 2015 Nov 19. PMID 26527279, Free PMC Article

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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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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Other Names

  • NEPN pseudogene
  • asporin pseudogene

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

  1. NG_008306.1 

    Range
    101..42260
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    117602928..117645087
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    118787169..118829325
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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