Gene Gene information from NCBI Gene database.
Entrez ID 8690
Gene name JRK like
Gene symbol JRKL
Synonyms (NCBI Gene)
HHMJG
Chromosome 11
Chromosome location 11q21
Summary The function of this gene has not yet been defined, however, the encoded protein shares similarity with the human (41% identical) and mouse (34% identical) jerky gene products. This protein may act as a nuclear regulatory protein. Alternatively spliced tr
miRNA miRNA information provided by mirtarbase database.
179
miRTarBase ID miRNA Experiments Reference
MIRT617683 hsa-miR-216a-5p HITS-CLIP 23824327
MIRT617682 hsa-miR-6814-5p HITS-CLIP 23824327
MIRT617681 hsa-miR-371b-5p HITS-CLIP 23824327
MIRT617680 hsa-miR-373-5p HITS-CLIP 23824327
MIRT617679 hsa-miR-616-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
GO ID Ontology Definition Evidence Reference
GO:0003676 Function Nucleic acid binding IEA
GO:0003677 Function DNA binding IBA
GO:0003677 Function DNA binding IEA
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603211 6200 ENSG00000183340
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y4A0
Protein name Jerky protein homolog-like (Human homolog of mouse jerky gene protein) (HHMJG)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04218 CENP-B_N 4 54 CENP-B N-terminal DNA-binding domain Domain
PF03221 HTH_Tnp_Tc5 76 139 Tc5 transposase DNA-binding domain Domain
PF03184 DDE_1 206 385 DDE superfamily endonuclease Family
Tissue specificity TISSUE SPECIFICITY: Abundantly expressed in the majority of tissues examined, including brain and skeletal muscle.
Sequence
MSGKRKRVVLTIKDKLDIIKKLEDGGSSKQLAVIYGIGETTVRDIRKNKEKIITYASSSD
STSLLAKRKSMKPSMYEELDRAMLEWFNQQRAKGNPISGPICAKRAEFFFYALGMDGDFN
PSAGWLTRFKQRHSIREIN
IRNERLNGDETAVEDFCNNFRDFIERENLQPEQIYNADETG
LFWKCLPSRISVIKGKCTVPGHKSIEERVTIMCCANATGLHKLKLCVVGKAKKPRSFKST
DTLNLPVSYFSQKGAWMDLSIFRQWFDKIFVPQVREYLRSKGLQEKAVLLLDNSPTHPNE
NVLRSDDGQIFAKYLPPNVASLIQPSDQGVIATMKRNYRAGLLQNNLEEGNDLKSFWKKL
TLLDALYEIAMAWNLVKPVTISRAW
KKILPMVEEKESLDFDVEDISVATVAAILQHTKGL
ENVTTENLEKWLEVDSTEPGYEVLTDSEIIRRAQGQADESSENEEEEIELIPEKHINHAA
ALQWTENLLDYLEQQGDMILPDRLVIRKLRATIRNKQKMTKSSQ
Sequence length 524
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
COLOR VISION DISORDER 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
Behcet Syndrome Behcet disease Pubtator 27548383 Associate
★☆☆☆☆
Found in Text Mining only