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CRYGC crystallin gamma C [ Homo sapiens (human) ]

Gene ID: 1420, updated on 28-Jun-2021

Summary

Official Symbol
CRYGCprovided by HGNC
Official Full Name
crystallin gamma Cprovided by HGNC
Primary source
HGNC:HGNC:2410
See related
Ensembl:ENSG00000163254 MIM:123680
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
CCL; CRYG3; CTRCT2
Summary
This gene encodes a member of the beta/gamma-crystallin family of proteins. Crystallins constitute the major proteins of vertebrate eye lens and maintain the transparency and refractive index of the lens. This gene and several family members are present in a gene cluster on chromosome 2. Mutations in this gene have been shown to cause multiple types of cataract, including Coppock-like cataract and zonular pulverulent cataract, among others. [provided by RefSeq, Jan 2015]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See CRYGC in Genome Data Viewer
Location:
2q33.3
Exon count:
4
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (208128137..208139100, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (208992861..208994552, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene crystallin gamma E, pseudogene Neighboring gene uncharacterized LOC100507443 Neighboring gene crystallin gamma D Neighboring gene replication factor C subunit 2 pseudogene Neighboring gene crystallin gamma B Neighboring gene crystallin gamma A

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Cataract 2, multiple types
MedGen: C4721890 OMIM: 604307 GeneReviews: Not available
Compare labs
Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.
GeneReviews: Not available

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated 2013-05-22)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated 2013-05-22)

ClinGen Genome Curation Page

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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
PubMed 
enables structural constituent of eye lens NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
involved_in lens development in camera-type eye IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in visual perception IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in visual perception IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
gamma-crystallin C
Names
gamma-crystallin 2-1
gamma-crystallin 3

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_008038.1 RefSeqGene

    Range
    5003..6694
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_020989.4NP_066269.1  gamma-crystallin C

    See identical proteins and their annotated locations for NP_066269.1

    Status: REVIEWED

    Source sequence(s)
    BC074954, BU737104
    Consensus CDS
    CCDS2379.1
    UniProtKB/Swiss-Prot
    P07315
    UniProtKB/TrEMBL
    A0A0X8GLL6
    Related
    ENSP00000282141.3, ENST00000282141.4
    Conserved Domains (2) summary
    smart00247
    Location:382
    XTALbg; Beta/gamma crystallins
    pfam00030
    Location:89170
    Crystall; Beta/Gamma crystallin

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    208128137..208139100 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011510662.1XP_011508964.1  gamma-crystallin C isoform X1

    See identical proteins and their annotated locations for XP_011508964.1

    UniProtKB/Swiss-Prot
    P07315
    UniProtKB/TrEMBL
    A0A0X8GLL6
    Conserved Domains (2) summary
    smart00247
    Location:382
    XTALbg; Beta/gamma crystallins
    pfam00030
    Location:89170
    Crystall; Beta/Gamma crystallin

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_018654710.1 Reference GRCh38.p13 PATCHES

    Range
    126431..128122 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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