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CRYGN crystallin gamma N [ Homo sapiens (human) ]

Gene ID: 155051, updated on 27-Nov-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
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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

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