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    CRYGN crystallin gamma N [ Homo sapiens (human) ]

    Gene ID: 155051, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CRYGNprovided by HGNC
    Official Full Name
    crystallin gamma Nprovided by HGNC
    Primary source
    HGNC:HGNC:20458
    See related
    Ensembl:ENSG00000127377 MIM:609603; AllianceGenome:HGNC:20458
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    This gene encodes a member of the crystallin family of proteins that are localized to the refractive structure of vertebrate eye lenses. The protein encoded by this gene is unique in that it has both beta and gamma crystallin protein motifs. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]
    Expression
    Biased expression in thyroid (RPKM 3.5), endometrium (RPKM 0.5) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CRYGN in Genome Data Viewer
    Location:
    7q36.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (151428832..151440813, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (152601666..152613647, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (151125918..151137899, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:151038519-151039020 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18812 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26859 Neighboring gene negative regulator of ubiquitin like proteins 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18813 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18814 Neighboring gene WD repeat domain 86 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:151084439-151085101 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:151107690-151108322 Neighboring gene WDR86 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:151125597-151126116 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26860 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26861 Neighboring gene uncharacterized LOC124901780 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26862 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26863 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:151134795-151135644 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:151136006-151136506 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:151136507-151137007 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:151137719-151138255 Neighboring gene microRNA 3907 Neighboring gene Sharpr-MPRA regulatory region 6092 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:151153164-151154036 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:151154037-151154909 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:151155634-151156302 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:151157640-151158307 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:151159408-151159959 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:151161805-151162306 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26864 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18816 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26865 Neighboring gene RNA, 7SL, cytoplasmic 76, pseudogene Neighboring gene Ras homolog, mTORC1 binding Neighboring gene NANOG hESC enhancer GRCh37_chr7:151187724-151188264 Neighboring gene eukaryotic translation termination factor 1 pseudogene 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Prenatal tobacco smoke exposure is associated with childhood DNA CpG methylation. Breton CV, et al. PLoS One, 2014. PMID 24964093, Free PMC Article
    2. Genetics of crystallins: cataract and beyond. Graw J. Exp Eye Res, 2009 Feb. PMID 19007775
    3. gammaN-crystallin and the evolution of the betagamma-crystallin superfamily in vertebrates. Wistow G, et al. FEBS J, 2005 May. PMID 15853812
    4. Non-EST-based prediction of novel alternatively spliced cassette exons with cell signaling function in Caenorhabditis elegans and human. Leparc GG, et al. Nucleic Acids Res, 2007. PMID 17452356, Free PMC Article
    5. Human chromosome 7: DNA sequence and biology. Scherer SW, et al. Science, 2003 May 2. PMID 12690205, Free PMC Article

    See all (10) citations in PubMed

    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

    • MGC119042, MGC119043, MGC119044, MGC119045

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables structural constituent of eye lens IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in lens development in camera-type eye IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in visual perception IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    gamma-crystallin N
    Names
    gamma-N-crystallin
    gammaN-crystallin

    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_001308292.1 → NP_001295221.1  gamma-crystallin N isoform b

      See identical proteins and their annotated locations for NP_001295221.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site and lacks an alternate exon, resulting in an alternate 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (b) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      AC005996, BC043605, BC100879, CN290143
      Consensus CDS
      CCDS78289.1
      UniProtKB/Swiss-Prot
      Q8WXF5
      Related
      ENSP00000420157.1, ENST00000491928.1
      Conserved Domains (1) summary
      pfam00030
      Location:7 → 88
      Crystall; Beta/Gamma crystallin

    2. NM_144727.3 → NP_653328.1  gamma-crystallin N isoform a

      See identical proteins and their annotated locations for NP_653328.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AC005996
      Consensus CDS
      CCDS5926.1
      UniProtKB/Swiss-Prot
      Q496G6, Q8WXF5
      UniProtKB/TrEMBL
      A0A090N8I5
      Related
      ENSP00000338613.3, ENST00000337323.3
      Conserved Domains (2) summary
      pfam00030
      Location:7 → 88
      Crystall; Beta/Gamma crystallin
      cl02528
      Location:96 → 136
      Crystall; Beta/Gamma crystallin

    RNA

    1. NR_131779.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC005996, BC043605
      Related
      ENST00000476631.5

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      151428832..151440813 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017011773.2 → XP_016867262.1  gamma-crystallin N isoform X1

      UniProtKB/Swiss-Prot
      Q8WXF5
      Conserved Domains (1) summary
      pfam00030
      Location:7 → 88
      Crystall; Beta/Gamma crystallin

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      152601666..152613647 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357353.1 → XP_054213328.1  gamma-crystallin N isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WXF5.1 GenPept UniProtKB/Swiss-Prot:Q8WXF5

    Gene LinkOut

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

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