LOC102724652 crystallin alpha A2 [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC102724652
Gene description: crystallin alpha A2
See related: Ensembl:ENSG00000276076
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: CRYAA; CRYAA2
Annotation information: Note: GeneID:102724652 is on a scaffold that is thought to be a false duplication and thus this gene is likely redundant with GeneID:1409. [11 Jun 2021]
Expression: Restricted expression toward kidney (RPKM 53.7) See more
Orthologs: all
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Genomic context

Location:: 21p12

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	21	NC_000021.9 (6499203..6564489)

Chromosome 21 - NC_000021.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:: NC_000021.9 Chromosome 21 Reference GRCh38.p14 Primary Assembly

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CRISPR/Cas9-mediated mutation of the alphaA-crystallin gene in rabbits recapitulates phenotypes of congenital cataracts, microphthalmia, obscurity, and early atrophy of the lens, and failed differentiation of lens fibers.
Title: CRISPR/Cas9-Mediated Mutation of αA-Crystallin Gene Induces Congenital Cataracts in Rabbits.

Submit: New GeneRIF Correction

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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General protein information

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Preferred Names: alpha-crystallin A2 chain

Names: alpha-crystallin A chain

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)

NM_001314050.5 → NP_001300979.1 alpha-crystallin A2 chain isoform 1

Status: VALIDATED

Source sequence(s)

FP236240

UniProtKB/Swiss-Prot

A0A140G945, E9PHE4, P02489, Q53X53

Related

ENST00000619537.5

Conserved Domains (2) summary

cd06497
Location:60 → 145

ACD_alphaA-crystallin_HspB4; Alpha-crystallin domain found in the small heat shock protein (sHsp) alphaA-crystallin (HspB4, 20kDa). sHsps are molecular chaperones that suppress protein aggregation and protect against cell stress, and are generally active as large oligomers ...

pfam00525
Location:1 → 51

Crystallin; Alpha crystallin A chain, N terminal
NM_001320719.1 → NP_001307648.1 alpha-crystallin A2 chain isoform 2

Status: VALIDATED

Source sequence(s)

BM671946, BQ640485

UniProtKB/TrEMBL

A0A8C8KJZ9, E7EWH7

Conserved Domains (1) summary

cl00175
Location:26 → 108

alpha-crystallin-Hsps_p23-like; alpha-crystallin domain (ACD) found in alpha-crystallin-type small heat shock proteins, and a similar domain found in p23 (a cochaperone for Hsp90) and in other p23-like proteins.