CRYBG1 (crystallin beta-gamma domain containing 1)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
202
Gene name Gene Name - the full gene name approved by the HGNC.
Crystallin beta-gamma domain containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CRYBG1
Synonyms (NCBI Gene) Gene synonyms aliases
AIM1, ST4
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q21
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(4)
GO ID Ontology Definition Evidence Reference
GO:0003674 Function Molecular_function ND
GO:0005575 Component Cellular_component ND
GO:0008150 Process Biological_process ND
GO:0030246 Function Carbohydrate binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
601797 356 ENSG00000112297
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9Y4K1
Protein name Beta/gamma crystallin domain-containing protein 1 (Absent in melanoma 1 protein)
Protein function May function as suppressor of malignant melanoma. It may exert its effects through interactions with the cytoskeleton.
PDB 2DAD , 3CW3 , 6VRO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00030 Crystall 1023 → 1098 Beta/Gamma crystallin Domain
PF00030 Crystall 1124 → 1205 Beta/Gamma crystallin Domain
PF00030 Crystall 1219 → 1312 Beta/Gamma crystallin Domain
PF00030 Crystall 1320 → 1403 Beta/Gamma crystallin Domain
PF00030 Crystall 1416 → 1495 Beta/Gamma crystallin Domain
PF00030 Crystall 1503 → 1583 Beta/Gamma crystallin Domain
PF00652 Ricin_B_lectin 1588 → 1716 Ricin-type beta-trefoil lectin domain Domain
Sequence 
MEKRSSGRRSGRRRGSQKSTDSPGADAELPESAARDDAVFDDEVAPNAASDNASAEKKVK
SPRAALDGGVASAASPESKPSPGTKGQLRGESDRSKQPPPASSPTKRKGRSRALEAVPAP
PASGPRAPAKESPPKRVPDPSPVTKGTAAESGEEAARAIPRELPVKSSSLLPEIKPEHKR
GPLPNHFNGRAEGGRSRELGRAAGAPGASDADGLKPRNHFGVGRSTVTTKVTLPAKPKHV
ELNLKTPKNLDSLGNEHNPFSQPVHKGNTATKISLFENKRTNSSPRHTDIRGQRNTPASS
KTFVGRAKLNLAKKAKEMEQPEKKVMPNSPQNGVLVKETAIETKVTVSEEEILPATRGMN
GDSSENQALGPQPNQDDKADVQTDAGCLSEPVASALIPVKDHKLLEKEDSEAADSKSLVL
ENVTDTAQDIPTTVDTKDLPPTAMPKPQHTFSDSQSPAESSPGPSLSLSAPAPGDVPKDT
CVQSPISSFPCTDLKVSENHKGCVLPVSRQNNEKMPLLELGGETTPPLSTERSPEAVGSE
CPSRVLVQVRSFVLPVESTQDVSSQVIPESSEVREVQLPTCHSNEPEVVSVASCAPPQEE
VLGNEHSHCTAELAAKSGPQVIPPASEKTLPIQAQSQGSRTPLMAESSPTNSPSSGNHLA
TPQRPDQTVTNGQDSPASLLNISAGSDDSVFDSSSDMEKFTEIIKQMDSAVCMPMKRKKA
RMPNSPAPHFAMPPIHEDHLEKVFDPKVFTFGLGKKKESQPEMSPALHLMQNLDTKSKLR
PKRASAEQSVLFKSLHTNTNGNSEPLVMPEINDKENRDVTNGGIKRSRLEKSALFSSLLS
SLPQDKIFSPSVTSVNTMTTAFSTSQNGSLSQSSVSQPTTEGAPPCGLNKEQSNLLPDNS
LKVFNFNSSSTSHSSLKSPSHMEKYPQKEKTKEDLDSRSNLHLPETKFSELSKLKNDDME
KANHIESVIKSNLPNCANSDTDFMGLFKSSRYDPSISFSGMSLSDTMTLRGSVQNKLNPR
PGKVVIYSEPDVSEKCIEVFSDIQDCSSWSLSPVILIKVVRGCWILYEQPNFEGHSIPLE
EGELELSGLWGIEDILERHEEAESDKPVVIGSIRHVVQDYRVSHIDLFTEPEGLGILSSY
FDDTEEMQGFGVMQKTCSMKVHWGTWLIYEEPGFQGVPFILEPGEYPDLSFWDTEEAYIG
SMRPLKMGGRKVEFPTDPKVVVYEKPFFEGKCVELETGMCSFVMEGGETEEATGDDHLPF
TSVGSMKVLRGIWVAYEKPGFTGHQYLLEEGEYRDWKAWGGYNGELQSLRPILGDFSNAH
MIMYSEKNFGSKGSSIDVLGIVANLKETGYGVKTQSINVLSGVWVAYENPDFTGEQYILD
KGFYTSFEDWGGKNCKISSVQPICLDSFTGPRRRNQIHLFSEPQFQGHSQSFEETTSQID
DSFSTKSCRVSGGSWVVYDGENFTGNQYVLEEGHYPCLSAMGCPPGATFKSLRFIDVEFS
EPTIILFEREDFKGKKIELNAETVNLRSLGFNTQIRSVQVIGGIWVTYEYGSYRGRQFLL
SPAEVPNWYEFSGCRQIGSLRPFVQKRIYFRLRNKATGLFMSTNGNLEDLKLLRIQVMED
VGADDQIWIYQEGCIKCRIAEDCCLTIVGSLVTSGSKLGLALDQNADSQFWSLKSDGRIY
SKLKPNLVLDIKGGTQYDQNHIILNTVSKEKFTQVWEAMVLYT
Sequence length 1723
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Show/Hide Text Mining Associations (12)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
COVID 19 Associate 39521879
Diabetes Mellitus Type 2 Associate 34092238
Epstein Barr Virus Infections Associate 15047827
GATA2 Deficiency Associate 25203537
Leukemia Associate 17374122
Lymphoma T Cell Inhibit 22510872
Melanoma Associate 22402438
Nasopharyngeal Carcinoma Associate 20473931
Neoplasms Associate 18843024, 22402438
Neoplasms Inhibit 21690554, 25203537