CRYBG2 (crystallin beta-gamma domain containing 2)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 55057
Gene name Crystallin beta-gamma domain containing 2
Gene symbol CRYBG2
Synonyms (NCBI Gene)
AIM1L
Chromosome 1
Chromosome location 1p36.11
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
GO ID Ontology Definition Evidence Reference
GO:0030246 Function Carbohydrate binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
619765 17295 ENSG00000176092
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N1P7
Protein name Beta/gamma crystallin domain-containing protein 2 (Absent in melanoma 1-like protein)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00030 Crystall 987 → 1066 Beta/Gamma crystallin Domain
PF00030 Crystall 1074 → 1155 Beta/Gamma crystallin Domain
PF00030 Crystall 1169 → 1255 Beta/Gamma crystallin Domain
PF00030 Crystall 1263 → 1344 Beta/Gamma crystallin Domain
PF00030 Crystall 1357 → 1436 Beta/Gamma crystallin Domain
PF00030 Crystall 1444 → 1524 Beta/Gamma crystallin Domain
Sequence 
MEEAGGPMARAKARVVSATLTWRQRPPTQEEIKHGFHKVSLVSGAQMEAPQKEMFEFSRR
EEVEVNGFATQEEETVNCQGPRDTAGSKNFQSHGPIFSKKYIPPPKEKRPEGRLKEAVDQ
SDGSRQAPRTEPPCVGAMARTELLVPLPGPREPSPHPGVGLTSGSSRSLEEYRVTRTVRT
TTVVGGHVDRRMSSSVTVRPVSSGEALPRGRQVSRMVPPVVVGSPPGSPSRSQAVKVLSN
LVPAGHSPPASHLPRPTAGGPRSTGLGSTVGAALRQLPETGTAELKDSSALASTGIPASA
HLPKNQDAPAACPDRDQGRAPDARACELWQVLGAPSSTELPLQTSQGQASVPSSPRLETH
VPSPGLTHPAKQPVVPTHPGARLTPLVLPPKKKDGPVDPPAATVLPMVRSEHVTVPGQPP
APSTTRRKDVPSPGGLSAPSSPRNKFVQNSENVPVLPFTQREVVKGPGAPAASSPTRKEV
VQGSSASAASSPTWKEVVKGPGAPAASSPTQKEVVQGSSAPAALFPTWKEVVKGPGAPDA
SFPTWKEVVKGPGAPAASSPTQKEVVQGSGAPAALSTTPKEVVKGPGAPAASSPTQKEVV
KGPCAPAASSPTQKEVVQGSGAPAALSPKSTEVVQGPKGSSSIQKEAVQGIAGSLAPPLT
KEETVQGPIAPATSLPKQDKGVQDSEGSPISSLTQKEVVQDPDALPAPSSSVDRVSPSPG
GTPAPVPTGAEASTESQLVSDPTEGKTCTETSREEDEVALAADLEIFLDTLRSMEPPEIL
RTHRLPRAPRSSYLSMYATLPAIEEDQLGPWVLGPGPQEVPSLEEKEEEEEEEPENPYLS
DDEKLQRRQEKAGPSPSRDLHPARPTQVSCSPLEMMKKHVAGTKGPHSELGLELQGGSRP
TSRLGGSLLFGSLVPTAKEASTPEPLGTKLSALLPHGAPGLRKVPGQLPLLCSERSSPTE
KLACSLPLEGWSPALKTQGKLNTRPGKVIFFSESGCQGSGREVWGDIVDASGWAPVASIR
VVRGCWVLYEEPEFRGQKLVLPEGDMELRTPGTKWSPQGIGSLRRVVWDYSTPEISLFSE
EGLKGEQVKLTEALKNSQGLEKPLQVASATVSAGLWLLYPKPLFEDTPYILEPGEYPTSE
AWGTSDPSVGSLKPMRLGCPSVEKPGEPRAVVYEAPGFQGRSWEVSRDIYNLQQPEDSQS
PHLASVGSLRVLGGCWVGYEKEGFRGHQYLLEEGEYPDWSHWGGYDELLTSLRVIRTDFG
DPAVVLFEAMDFEGHGVEVSKALPDVELVQHGPSTQAIHVLSGVWVAYQEVGFSGEQYVL
EKGVYRNCEDWGAGNSTLASLQPVLQVGEHDLHFVSKIQLFSRPDFLGDHFSFEDDQAAL
PASFRPQSCRVHGGSWILFDETNFEGDQHILSEGEFPTLTAMGCLASTVLGSLQKVSLHF
SEPSIFLYGLECFEGKEIELSREVRSLQAEGFNNHVLSVRIKGGIWVLCEHSDFRGRQWL
VGSCEITNWLTYSGTQRVGSLYPIKQRRVYFRLWNAALGGFLAVPDHVEDMKAGRVVVAD
PQAGGSCIWYYEDGLLKNQMAPTMSLQVIGPPSPGSKVVLWAESRLPRQTWSISESGHIC
SQMFEGQILDVKGGRGYDRDHVVLWEPDEDRASQIWTIHVL
Sequence length 1661
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Gene Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (6)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANDROGENETIC ALOPECIA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Lung cancer Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OBESITY — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (4)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Carcinoma Hepatocellular Associate 34130591
★★★★★
★☆☆☆☆
Found in Text Mining only
Esophageal Squamous Cell Carcinoma Inhibit 37653730
★★★★★
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 34130591
★★★★★
★☆☆☆☆
Found in Text Mining only
Neoplasms Inhibit 37653730
★★★★★
★☆☆☆☆
Found in Text Mining only