Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8629
Gene name Gene Name - the full gene name approved by the HGNC.
Jrk helix-turn-helix protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
JRK
Synonyms (NCBI Gene) Gene synonyms aliases
JH8, jerky
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q24.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a conserved protein that is similar to DNA-binding proteins, such as major centromere autoantigen B (CENPB). Inactivation of the related gene in mice resulted in epileptic seizures. Childhood Absence Epilepsy (CAE) has been mapped to the
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT1077647 hsa-miR-106a CLIP-seq
MIRT1077648 hsa-miR-106b CLIP-seq
MIRT1077649 hsa-miR-10a CLIP-seq
MIRT1077650 hsa-miR-10b CLIP-seq
MIRT1077651 hsa-miR-1184 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003677 Function DNA binding IBA 21873635
GO:0003729 Function MRNA binding IEA
GO:0005515 Function Protein binding IPI 21399610
GO:0005575 Component Cellular_component ND
GO:0005634 Component Nucleus IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603210 6199 ENSG00000234616
Protein
UniProt ID O75564
Protein name Jerky protein homolog
Protein function May bind DNA.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04218 CENP-B_N 14 66 CENP-B N-terminal DNA-binding domain Domain
PF03221 HTH_Tnp_Tc5 86 149 Tc5 transposase DNA-binding domain Domain
PF03184 DDE_1 213 382 DDE superfamily endonuclease Family
Tissue specificity TISSUE SPECIFICITY: Expressed ubiquitously. {ECO:0000269|PubMed:9675132}.
Sequence
MASKPAAGKSRGEKRKRVVLTLKEKIDICTRLEKGESRKALMQEYNVGMSTLYDIRAHKA
QLLRFF
ASSDSNKALEQRRTLHTPKLEHLDRVLYEWFLGKRSEGVPVSGPMLIEKAKDFY
EQMQLTEPCVFSGGWLWRFKARHGIKKLD
ASSEKQSADHQAAEQFCAFFRSLAAEHGLSA
EQVYNADETGLFWRCLPNPTPEGGAVPGPKQGKDRLTVLMCANATGSHRLKPLAIGKCSG
PRAFKGIQHLPVAYKAQGNAWVDKEIFSDWFHHIFVPSVREHFRTIGLPEDSKAVLLLDS
SRAHPQEAELVSSNVFTIFLPASVASLVQPMEQGIRRDFMRNFINPPVPLQGPHARYNMN
DAIFSVACAWNAVPSHVFRRAW
RKLWPSVAFAEGSSSEEELEAECFPVKPHNKSFAHILE
LVKEGSSCPGQLRQRQAASWGVAGREAEGGRPPAATSPAEVVWSSEKTPKADQDGRGDPG
EGEEVAWEQAAVAFDAVLRFAERQPCFSAQEVGQLRALRAVFRSQQQETVGLEDVVVTSP
EELAIPKCCLEASTET
Sequence length 556
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder rs786205019
Epilepsy Epilepsy, Generalized, Epilepsy, Atonic, Epilepsy, Tonic, Symptomatic Generalized Epilepsy, Epilepsy, Akinetic, Epilepsy, Absence, Atypical, EPILEPSY, CHILDHOOD ABSENCE, 1, Epilepsy, Minor, Impulsive Petit Mal Epilepsy rs113994140, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs387906420, rs121917752, rs121918622, rs281865564, rs387907313, rs397514670
View all (165 more)
11463517
Febrile seizures Febrile Convulsions rs121909761, rs121909672, rs121909673, rs121909674, rs1561645243, rs267606837, rs796052510, rs1553553485, rs1554097890, rs1554101202, rs1554098226, rs765574676, rs1045493304
Gastric cancer Gastric Adenocarcinoma rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802
View all (244 more)
26098866
Unknown
Disease term Disease name Evidence References Source
Absence seizure Absence Seizure Disorder 11463517 ClinVar
Mental depression Depressive disorder ClinVar
Nasopharyngeal carcinoma Nasopharyngeal carcinoma These data suggest that KAT7 can contribute NPC cell growth and survival through up-regulation of NPC-essential genes. 20512145 ClinVar, CBGDA
Schizophrenia Schizophrenia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Neoplasms Associate 28837395