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CRYGS crystallin gamma S [ Homo sapiens (human) ]

Gene ID: 1427, updated on 17-Sep-2024

Summary

Official Symbol
CRYGSprovided by HGNC
Official Full Name
crystallin gamma Sprovided by HGNC
Primary source
HGNC:HGNC:2417
See related
Ensembl:ENSG00000213139 MIM:123730; AllianceGenome:HGNC:2417
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
Also known as
CRYG8; CTRCT20
Summary
Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. This gene encodes a protein initially considered to be a beta-crystallin but the encoded protein is monomeric and has greater sequence similarity to other gamma-crystallins. This gene encodes the most significant gamma-crystallin in adult eye lens tissue. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in spleen (RPKM 1.8), skin (RPKM 1.8) and 25 other tissues See more
Orthologs
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Genomic context

See CRYGS in Genome Data Viewer
Location:
3q27.3
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (186538443..186544380, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (189354165..189360102, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (186256232..186262169, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2020 Neighboring gene long intergenic non-protein coding RNA 2052 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:186194185-186194957 Neighboring gene long intergenic non-protein coding RNA 2051 Neighboring gene Sharpr-MPRA regulatory region 13089 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20938 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20939 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20940 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20941 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14985 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20942 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:186270000-186271199 Neighboring gene TBCC domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14986 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14987 Neighboring gene DnaJ heat shock protein family (Hsp40) member B11

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Cataract 20 multiple types
MedGen: C0524524 OMIM: 116100 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
A genome-wide association study of behavioral disinhibition.
EBI GWAS Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
integrase gag-pol A crystallin variant, derived from the C-terminal domain of the eye lens protein human gammaS-crystallin, interacts with the integrase C-terminal domain and inhibits integrase substrate affinity PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
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 morphogenesis of an epithelium IEA
Inferred from Electronic Annotation
more info
 
involved_in visual perception IBA
Inferred from Biological aspect of Ancestor
more info
 

General protein information

Preferred Names
gamma-crystallin S
Names
beta-crystallin S
crystallin, gamma 8

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_009829.1 RefSeqGene

    Range
    4999..10936
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_017541.4NP_060011.1  gamma-crystallin S

    See identical proteins and their annotated locations for NP_060011.1

    Status: REVIEWED

    Source sequence(s)
    BC069478, BF726415, BY794952
    Consensus CDS
    CCDS3275.1
    UniProtKB/Swiss-Prot
    B2RAF8, P22914
    UniProtKB/TrEMBL
    A0A140CTX8
    Related
    ENSP00000312099.5, ENST00000307944.6
    Conserved Domains (2) summary
    smart00247
    Location:784
    XTALbg; Beta/gamma crystallins
    pfam00030
    Location:95176
    Crystall; Beta/Gamma crystallin

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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    186538443..186544380 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    189354165..189360102 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)