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CRYBG2 crystallin beta-gamma domain containing 2 [ Homo sapiens (human) ]

Gene ID: 55057, updated on 13-Mar-2020

Summary

Official Symbol
CRYBG2provided by HGNC
Official Full Name
crystallin beta-gamma domain containing 2provided by HGNC
Primary source
HGNC:HGNC:17295
See related
Ensembl:ENSG00000176092
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
AIM1L
Expression
Biased expression in esophagus (RPKM 18.9), skin (RPKM 6.5) and 5 other tissues See more
Orthologs

Genomic context

See CRYBG2 in Genome Data Viewer
Location:
1p36.11
Exon count:
22
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (26321859..26354130, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (26648350..26680621, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene SH3 domain binding glutamate rich protein like 3 Neighboring gene UBX domain protein 11 Neighboring gene CD52 molecule Neighboring gene ribosomal protein L34 pseudogene 4 Neighboring gene zinc finger protein 683 Neighboring gene CRISPRi-validated cis-regulatory element chr1.3775

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

Phenotypes

NHGRI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10040, FLJ38020, DKFZp434L1713

Gene Ontology Provided by GOA

Function Evidence Code Pubs
carbohydrate binding IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
beta/gamma crystallin domain-containing protein 2
Names
absent in melanoma 1 like
absent in melanoma 1-like protein
beta-gamma crystallin domain containing 2

NCBI Reference Sequences (RefSeq)

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_001039775.3NP_001034864.2  beta/gamma crystallin domain-containing protein 2

    See identical proteins and their annotated locations for NP_001034864.2

    Status: VALIDATED

    Source sequence(s)
    AK000902, AK095339, AL451139, CD628851, DA439029, DA456217, DR004727
    UniProtKB/Swiss-Prot
    Q8N1P7
    UniProtKB/TrEMBL
    Q9NWG5
    Related
    ENSP00000310435.6, ENST00000308182.9
    Conserved Domains (3) summary
    PHA03247
    Location:248710
    PHA03247; large tegument protein UL36; Provisional
    pfam00030
    Location:11691255
    Crystall; Beta/Gamma crystallin
    cl26069
    Location:15691656
    Ricin_B_lectin; Ricin-type beta-trefoil lectin domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    26321859..26354130 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011541672.1XP_011539974.1  beta/gamma crystallin domain-containing protein 2 isoform X2

    Conserved Domains (3) summary
    pfam00030
    Location:11581243
    Crystall; Beta/Gamma crystallin
    pfam05466
    Location:499740
    BASP1; Brain acid soluble protein 1 (BASP1 protein)
    cl23784
    Location:15781647
    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 ...
  2. XM_005245918.2XP_005245975.1  beta/gamma crystallin domain-containing protein 2 isoform X1

    See identical proteins and their annotated locations for XP_005245975.1

    Related
    ENSP00000428746.2, ENST00000475866.3
    Conserved Domains (3) summary
    PHA03247
    Location:248710
    PHA03247; large tegument protein UL36; Provisional
    pfam00030
    Location:11691255
    Crystall; Beta/Gamma crystallin
    cl26069
    Location:15691656
    Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
  3. XM_011541673.2XP_011539975.1  beta/gamma crystallin domain-containing protein 2 isoform X3

    Conserved Domains (3) summary
    pfam00030
    Location:12261312
    Crystall; Beta/Gamma crystallin
    pfam05466
    Location:556797
    BASP1; Brain acid soluble protein 1 (BASP1 protein)
    cl23784
    Location:16471716
    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 ...

RNA

  1. XR_001737260.1 RNA Sequence

  2. XR_946681.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_017977.2: Suppressed sequence

    Description
    NM_017977.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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