CRYBG1 (crystallin beta-gamma domain containing 1)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 202
Gene name Crystallin beta-gamma domain containing 1
Gene symbol CRYBG1
Synonyms (NCBI Gene)
AIM1ST4
Chromosome 6
Chromosome location 6q21
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
4
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
601797 356 ENSG00000112297
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.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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 (4)
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
ALZHEIMER DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EXOSTOSIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MELANOMA — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
STROKE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (21)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Albinism, Oculocutaneous Oculocutaneous albinism BEFREE 14722913
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 26057128
★★★★★
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Diabetes mellitus, type 2 Pubtator 34092238 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
GATA2 Deficiency Gata2 deficiency Pubtator 25203537 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Leukemia Leukemia Pubtator 17374122 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of prostate Prostate cancer BEFREE 22127895, 24769028, 28747635, 30544954
★★★★★
★☆☆☆☆
Found in Text Mining only
melanoma Melanoma BEFREE 11323215, 11700328, 19194464, 22402438, 8700511, 9096375
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
melanoma Melanoma LHGDN 16511323, 18582473
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
melanoma Melanoma CTD_human_DG 22402438
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Melanoma Melanoma Pubtator 22402438 Associate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations