Gene Gene information from NCBI Gene database.
Entrez ID 7918
Gene name G-patch domain and ankyrin repeats 1
Gene symbol GPANK1
Synonyms (NCBI Gene)
ANKRD59BAT4D6S54EG5GPATCH10
Chromosome 6
Chromosome location 6p21.33
Summary This gene is located in a cluster of HLA-B-associated transcripts, which is included in the human major histocompatability complex III region. This gene encodes a protein which is thought to play a role in immunity. Multiple alternatively spliced variants
miRNA miRNA information provided by mirtarbase database.
224
miRTarBase ID miRNA Experiments Reference
MIRT024275 hsa-miR-215-5p Microarray 19074876
MIRT1028157 hsa-miR-2861 CLIP-seq
MIRT1028158 hsa-miR-3161 CLIP-seq
MIRT1028159 hsa-miR-3187-3p CLIP-seq
MIRT1028160 hsa-miR-3667-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
2
GO ID Ontology Definition Evidence Reference
GO:0003676 Function Nucleic acid binding IEA
GO:0005515 Function Protein binding IPI 21516116, 25416956, 28514442, 31515488, 32296183, 32814053, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
142610 13920 ENSG00000204438
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O95872
Protein name G patch domain and ankyrin repeat-containing protein 1 (Ankyrin repeat domain-containing protein 59) (G patch domain-containing protein 10) (HLA-B-associated transcript 4) (Protein G5)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13637 Ank_4 104 163 Repeat
PF01585 G-patch 255 299 G-patch domain Family
Sequence
MSRPLLITFTPATDPSDLWKDGQQQPQPEKPESTLDGAAARAFYEALIGDESSAPDSQRS
QTEPARERKRKKRRIMKAPAAEAVAEGASGRHGQGRSLEAEDKMTHRILRAAQEGDLPEL
RRLLEPHEAGGAGGNINARDAFWWTPLMCAARAGQGAAVSYLL
GRGAAWVGVCELSGRDA
AQLAEEAGFPEVARMVRESHGETRSPENRSPTPSLQYCENCDTHFQDSNHRTSTAHLLSL
SQGPQPPNLPLGVPISSPGFKLLLRGGWEPGMGLGPRGEGRANPIPTVLKRDQEGLGYRS
APQPRVTHFPAWDTRAVAGRERPPRVATLSWREERRREEKDRAWERDLRTYMNLEF
Sequence length 356
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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)
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
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MEMBRANOUS GLOMERULONEPHRITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Celiac Disease Celiac disease Pubtator 28282431 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent Diabetes Mellitus GWASDB_DG 17632545
★☆☆☆☆
Found in Text Mining only
Lupus Erythematosus, Systemic Lupus Erythematosus GWASDB_DG 24871463
★☆☆☆☆
Found in Text Mining only
Lymphoma, Follicular Lymphoma BEFREE 21148756
★☆☆☆☆
Found in Text Mining only
Lymphoma, Non-Hodgkin Non-Hodgkin lymphoma BEFREE 21148756, 28282431
★☆☆☆☆
Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial Lymphoma BEFREE 28282431
★☆☆☆☆
Found in Text Mining only
Membranous glomerulonephritis Membranous Glomerulonephritis GWASCAT_DG 21323541
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Myasthenia Gravis Myasthenia Gravis GWASDB_DG 23055271
★☆☆☆☆
Found in Text Mining only
Rheumatoid Arthritis Rheumatoid arthritis GWASDB_DG 17804836, 19503088, 21156761
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Sarcoma Kaposi Sarcoma Pubtator 25008864 Associate
★☆☆☆☆
Found in Text Mining only