JRKL

Summary

JRKL (JRK like, HGNC:6200) is a protein-coding gene on chromosome 11q21, encoding Jerky protein homolog-like (Q9Y4A0).

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 transcript variants have been found for this gene.

Source: NCBI Gene 8690 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 43 total
• MANE Select transcript: NM_001261833

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6200
Approved symbol	JRKL
Name	JRK like
Location	11q21
Locus type	gene with protein product
Status	Approved
Aliases	HHMJG
Ensembl gene	ENSG00000183340
Ensembl biotype	protein_coding
OMIM	603211
Entrez	8690

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000332349, ENST00000546177, ENST00000931498

RefSeq mRNA: 2 — MANE Select: NM_001261833 NM_001261833, NM_003772

CCDS: CCDS8308

Canonical transcript exons

ENST00000332349 — 2 exons

Exon	Start	End
ENSE00001328663	96390483	96393561
ENSE00001560936	96390013	96390073

Expression profiles

Bgee: expression breadth ubiquitous, 278 present calls, max score 90.80.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.6612 / max 265.9175, expressed in 1682 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
116346	6.6612	1682

Top tissues by expression

293 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	90.80	gold quality
choroid plexus epithelium	UBERON:0003911	85.48	gold quality
calcaneal tendon	UBERON:0003701	85.25	gold quality
cauda epididymis	UBERON:0004360	84.90	gold quality
caput epididymis	UBERON:0004358	84.79	gold quality
corpus epididymis	UBERON:0004359	83.34	gold quality
bronchial epithelial cell	CL:0002328	83.22	gold quality
superficial temporal artery	UBERON:0001614	83.13	gold quality
stromal cell of endometrium	CL:0002255	82.71	gold quality
endometrium	UBERON:0001295	82.27	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.24	gold quality
cartilage tissue	UBERON:0002418	82.12	gold quality
mucosa of sigmoid colon	UBERON:0004993	81.88	gold quality
mucosa of paranasal sinus	UBERON:0005030	81.83	gold quality
right testis	UBERON:0004534	81.78	gold quality
rectum	UBERON:0001052	81.74	gold quality
pigmented layer of retina	UBERON:0001782	81.49	gold quality
colonic mucosa	UBERON:0000317	81.45	gold quality
left testis	UBERON:0004533	81.13	gold quality
islet of Langerhans	UBERON:0000006	81.10	gold quality
cortical plate	UBERON:0005343	80.90	gold quality
cranial nerve II	UBERON:0000941	80.89	gold quality
right uterine tube	UBERON:0001302	80.89	gold quality
descending thoracic aorta	UBERON:0002345	80.75	gold quality
epithelium of bronchus	UBERON:0002031	80.65	gold quality
germinal epithelium of ovary	UBERON:0001304	80.33	gold quality
thoracic aorta	UBERON:0001515	80.21	gold quality
left coronary artery	UBERON:0001626	80.17	gold quality
bronchus	UBERON:0002185	80.16	gold quality
testis	UBERON:0000473	80.15	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-MTAB-6142	no	58.25
E-ANND-3	no	2.89

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

122 targeting JRKL, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-548J-3P	99.94	72.61	4881

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Jrkl	ENSMUSG00000079083
rattus_norvegicus	Jrkl	ENSRNOG00000047133

Paralogs (12): CENPB (ENSG00000125817), TIGD7 (ENSG00000140993), POGK (ENSG00000143157), POGZ (ENSG00000143442), TIGD6 (ENSG00000164296), TIGD4 (ENSG00000169989), TIGD3 (ENSG00000173825), TIGD5 (ENSG00000179886), TIGD2 (ENSG00000180346), TIGD1 (ENSG00000221944), JRK (ENSG00000234616), (ENSG00000293642)

Protein

Protein identifiers

Jerky protein homolog-like — Q9Y4A0 (reviewed: Q9Y4A0)

Alternative names: Human homolog of mouse jerky gene protein

All UniProt accessions (1): Q9Y4A0

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Nucleus.

Tissue specificity. Abundantly expressed in the majority of tissues examined, including brain and skeletal muscle.

Similarity. Belongs to the tigger transposable element derived protein family.

RefSeq proteins (2): NP_001248762, NP_003763 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004875	DDE_SF_endonuclease_dom	Domain
IPR006600	HTH_CenpB_DNA-bd_dom	Domain
IPR007889	HTH_Psq	Domain
IPR009057	Homeodomain-like_sf	Homologous_superfamily
IPR036397	RNaseH_sf	Homologous_superfamily
IPR050863	CenT-Element_Derived	Family

Pfam: PF03184, PF03221, PF04218

UniProt features (10 total): sequence conflict 4, domain 3, DNA-binding region 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y4A0-F1	79.34	0.31

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 104 (showing top): BHATI_G2M_ARREST_BY_2METHOXYESTRADIOL_DN, MORF_RAD51L3, MORF_CTSB, MORF_IL4, MORF_PRKCA, MORF_THPO, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, VANTVEER_BREAST_CANCER_ESR1_DN, MORF_ATF2, DANG_BOUND_BY_MYC, MORF_PPP2R5B, WANG_HCP_PROSTATE_CANCER, GAL_LEUKEMIC_STEM_CELL_UP, SMID_BREAST_CANCER_LUMINAL_B_DN, MORF_KDR

GO Biological Process (1): central nervous system development (GO:0007417)

GO Molecular Function (2): DNA binding (GO:0003677), nucleic acid binding (GO:0003676)

GO Cellular Component (1): nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
nervous system development	1
system development	1
nucleic acid binding	1
binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

430 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
JRKL	CNTN5	O94779	689
JRKL	GINM1	Q9NU53	508
JRKL	POGK	Q9P215	496
JRKL	NAIF1	Q69YI7	468
JRKL	ZNF222	Q9UK12	402
JRKL	LCTL	Q6UWM7	382
JRKL	ZNF514	Q96K75	376
JRKL	TMEM123	Q8N131	370
JRKL	HARBI1	Q96MB7	355
JRKL	MID1IP1	Q9NPA3	355
JRKL	PIP4K2C	Q8TBX8	353
JRKL	KLRC4	O43908	351
JRKL	S100A5	P33763	348
JRKL	KRTAP11-1	Q8IUC1	335
JRKL	NUDCD1	Q96RS6	333

IntAct

3 interactions, top by confidence:

A	B	Type	Score
JRKL	TIGD2	psi-mi:“MI:0914”(association)	0.350
MKI67	ARHGAP10	psi-mi:“MI:0914”(association)	0.350
	JRKL	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (17): FANCD2 (Affinity Capture-MS), LETMD1 (Affinity Capture-MS), CEP83 (Affinity Capture-MS), DCAF10 (Affinity Capture-MS), TIGD2 (Affinity Capture-MS), JRKL (Affinity Capture-MS), JRKL (Affinity Capture-MS), JRKL (Proximity Label-MS), JRKL (Proximity Label-MS), JRKL (Affinity Capture-MS), JRKL (Affinity Capture-MS), JRKL (Affinity Capture-MS), JRKL (Affinity Capture-MS), JRKL (Affinity Capture-MS), JRKL (Affinity Capture-RNA)

ESM2 similar proteins: A4IFA3, A4Z943, A4Z944, A4Z945, B2RRL2, D3Z4R1, F1NQJ3, O43422, O60108, O60290, O96006, P08770, P0CF97, P12258, P16320, P34601, Q09772, Q0VBL1, Q17RP2, Q3EBC8, Q3YK19, Q49AG3, Q4R6P1, Q4W5G0, Q5SVZ6, Q5SXJ3, Q6EKJ0, Q6NT04, Q6R2W3, Q7L775, Q7M3K2, Q86UP8, Q8BUZ3, Q8IY51, Q8IZ13, Q8TBB0, Q8TCP9, Q8TDG4, Q8VEH5, Q95M72

Diamond homologs: B2RD01, B2RRL2, Q96MW7, Q9Y4A0, O75564, Q0VBL1, Q4W5G0, Q60976, Q6NT04, B0X560, B1WC39, G3MY25, Q16IB4, Q29CW0, Q29CW2, Q499M4, Q53EQ6, Q9VBW6, Q9VBW9, Q17RP2, Q8BUZ3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

43 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	39
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

127 predictions. Top by Δscore:

Variant	Effect	Δscore
11:96390044:G:GT	donor_gain	0.9900
11:96390045:G:T	donor_gain	0.9500
11:96390063:TTGC:T	donor_gain	0.9400
11:96390481:A:AG	acceptor_gain	0.9100
11:96390482:G:GG	acceptor_gain	0.9100
11:96390069:GAGAG:G	donor_gain	0.8800
11:96390482:GTCT:G	acceptor_gain	0.8800
11:96390071:GAG:G	donor_gain	0.8300
11:96390041:C:A	donor_gain	0.8100
11:96390070:AGAG:A	donor_loss	0.8100
11:96390072:AG:A	donor_loss	0.8100
11:96390073:GGT:G	donor_loss	0.8100
11:96390074:G:GA	donor_loss	0.8100
11:96390075:T:C	donor_loss	0.8100
11:96390071:G:GT	donor_gain	0.7500
11:96390078:G:T	donor_gain	0.7300
11:96390482:GT:G	acceptor_gain	0.7300
11:96390047:GCT:G	donor_gain	0.7200
11:96390039:G:GG	donor_gain	0.7000
11:96390038:A:AG	donor_gain	0.6800
11:96390002:G:GT	donor_gain	0.6600
11:96390048:C:G	donor_gain	0.6600
11:96391383:TGCCA:T	acceptor_gain	0.6500
11:96391384:GCCAG:G	acceptor_gain	0.6500
11:96390016:G:T	donor_gain	0.5900
11:96390208:G:GT	donor_gain	0.5900
11:96390482:GTCTA:G	acceptor_gain	0.5900
11:96391385:CCAG:C	acceptor_gain	0.5900
11:96390178:G:GT	donor_gain	0.5500
11:96390482:GTC:G	acceptor_gain	0.5500

AlphaMissense

3466 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:96390783:T:A	I45K	0.996
11:96390774:T:A	V42D	0.995
11:96391022:T:A	W125R	0.995
11:96391022:T:C	W125R	0.995
11:96391034:T:C	F129L	0.994
11:96391036:T:A	F129L	0.994
11:96391036:T:G	F129L	0.994
11:96390678:T:C	L10S	0.993
11:96390777:G:C	R43P	0.993
11:96390780:A:T	D44V	0.993
11:96390694:G:C	K15N	0.992
11:96390694:G:T	K15N	0.992
11:96391004:T:C	F119L	0.992
11:96391006:T:A	F119L	0.992
11:96391006:T:G	F119L	0.992
11:96391035:T:C	F129S	0.992
11:96391039:G:C	K130N	0.992
11:96391039:G:T	K130N	0.992
11:96390779:G:C	D44H	0.991
11:96390783:T:G	I45R	0.991
11:96390702:T:A	I18K	0.990
11:96390781:T:A	D44E	0.989
11:96390781:T:G	D44E	0.989
11:96390888:A:T	D80V	0.989
11:96390696:T:C	L16P	0.987
11:96390804:T:G	I52S	0.987
11:96390853:G:C	R68S	0.987
11:96390853:G:T	R68S	0.987
11:96391024:G:C	W125C	0.987
11:96391024:G:T	W125C	0.987

dbSNP variants (sampled 300 via entrez): RS1000987155 (11:96393093 G>C), RS1001598465 (11:96389717 C>G), RS1001650782 (11:96389823 G>A,C), RS1002149379 (11:96389940 G>A), RS1002420048 (11:96389886 C>T), RS1003321522 (11:96388867 C>A,T), RS1003331618 (11:96389225 A>C), RS1004228375 (11:96389324 A>C), RS1004847135 (11:96393678 A>C,G,T), RS1005551708 (11:96390024 G>A), RS1006531853 (11:96390313 A>G), RS1007230708 (11:96389318 C>T), RS1007239187 (11:96389507 C>G), RS1008407004 (11:96392729 A>G), RS1008609314 (11:96389704 C>G,T)

Disease associations

OMIM: gene MIM:603211 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST001549_3	Formal thought disorder in schizophrenia	2.000000e-06
GCST001728_12	Ulcerative colitis	1.000000e-08
GCST007551_2	Behcet’s disease	3.000000e-10
GCST008036_1	Hypertension	4.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004805	formal thought disorder

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cyclosporine	decreases expression, increases expression	3
Valproic Acid	increases expression, affects expression	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
GSK-J4	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
sodium arsenite	decreases expression	1
nickel sulfate	decreases expression	1
coumarin	decreases phosphorylation	1
pentanal	decreases expression	1
avobenzone	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
K 7174	increases expression	1
abrine	decreases expression	1
Sunitinib	increases expression	1
Vorinostat	increases expression	1
Amiodarone	increases expression	1
Benzo(a)pyrene	increases methylation	1
Hydrogen Peroxide	increases expression	1
Phthalic Acids	increases methylation	1
Potassium Chloride	decreases expression, decreases response to substance	1
Dronabinol	decreases expression, decreases response to substance	1
Tobacco Smoke Pollution	increases expression	1
Urethane	decreases expression	1
Aflatoxin M1	decreases expression	1
Copper Sulfate	decreases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.