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CRYBG3 crystallin beta-gamma domain containing 3 [ Homo sapiens (human) ]

Gene ID: 131544, updated on 10-Mar-2024

Summary

Official Symbol
CRYBG3provided by HGNC
Official Full Name
crystallin beta-gamma domain containing 3provided by HGNC
Primary source
HGNC:HGNC:34427
See related
Ensembl:ENSG00000080200 MIM:620146; AllianceGenome:HGNC:34427
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
vlAKAP; DKFZp667G2110
Summary
Enables protein kinase A binding activity. Predicted to be involved in lens development in camera-type eye and visual perception. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in thyroid (RPKM 19.9), testis (RPKM 9.8) and 24 other tissues See more
Orthologs
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Genomic context

Location:
3q11.2
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (97822011..97944984)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (100525753..100648725)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (97540855..97663828)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene EPH receptor A6 Neighboring gene uncharacterized LOC124906256 Neighboring gene NANOG hESC enhancer GRCh37_chr3:97466009-97466510 Neighboring gene H3K27ac hESC enhancers GRCh37_chr3:97482933-97483434 and GRCh37_chr3:97483435-97483934 Neighboring gene uncharacterized LOC101929298 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14552 Neighboring gene uncharacterized LOC105373994 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:97614773-97615564 Neighboring gene ADP ribosylation factor like GTPase 6 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:97628706-97629296 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:97629297-97629886 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20128 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14553 Neighboring gene uncharacterized LOC124909398 Neighboring gene Sharpr-MPRA regulatory region 5379 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20129 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20130 Neighboring gene ribosomal oxygenase 2 Neighboring gene gamma-aminobutyric acid type A receptor subunit rho3

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ60082, DKFZp686L13211

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables carbohydrate binding IEA
Inferred from Electronic Annotation
more info
 
enables protein kinase A 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 biological_process ND
No biological Data available
more info
 
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
 
Component Evidence Code Pubs
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
very large A-kinase anchor protein
Names
beta-gamma crystallin domain containing 3
beta/gamma crystallin domain-containing protein 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.

mRNA and Protein(s)

  1. NM_153605.4NP_705833.3  very large A-kinase anchor protein

    See identical proteins and their annotated locations for NP_705833.3

    Status: VALIDATED

    Source sequence(s)
    AC110491, AF451988, AK091199, AK296966, BM974654
    Consensus CDS
    CCDS43113.2
    UniProtKB/Swiss-Prot
    B4DLE8, F6VHI2, Q4G0V8, Q68DQ2, Q7Z4R9, Q86VD0, Q8N262, Q8N7F1, Q8NDQ8
    Related
    ENSP00000374273.3, ENST00000389622.7
    Conserved Domains (4) summary
    cd00161
    Location:28382967
    RICIN; Ricin-type beta-trefoil; Carbohydrate-binding domain formed from presumed gene triplication. The domain is found in a variety of molecules serving diverse functions such as enzymatic activity, inhibitory toxicity and signal transduction. Highly specific ...
    pfam00030
    Location:25742655
    Crystall; Beta/Gamma crystallin
    pfam00652
    Location:28392965
    Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
    cl02528
    Location:24062448
    Crystall; Beta/Gamma crystallin

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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
    97822011..97944984
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005247117.5XP_005247174.1  very large A-kinase anchor protein isoform X1

    Conserved Domains (4) summary
    cd00161
    Location:25472676
    RICIN; Ricin-type beta-trefoil; Carbohydrate-binding domain formed from presumed gene triplication. The domain is found in a variety of molecules serving diverse functions such as enzymatic activity, inhibitory toxicity and signal transduction. Highly specific ...
    pfam00030
    Location:22832364
    Crystall; Beta/Gamma crystallin
    pfam00652
    Location:25482674
    Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
    cl02528
    Location:21152157
    Crystall; Beta/Gamma crystallin
  2. XM_047447439.1XP_047303395.1  very large A-kinase anchor protein isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    100525753..100648725
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054345223.1XP_054201198.1  very large A-kinase anchor protein isoform X1

  2. XM_054345224.1XP_054201199.1  very large A-kinase anchor protein isoform X2