KIN

Summary

KIN (Kin17 DNA and RNA binding protein, HGNC:6327) is a protein-coding gene on chromosome 10p14, encoding DNA/RNA-binding protein KIN17 (O60870). Involved in DNA replication and the cellular response to DNA damage. It is a common-essential gene (DepMap: required in 98.4% of cancer cell lines).

The protein encoded by this gene is a nuclear protein that forms intranuclear foci during proliferation and is redistributed in the nucleoplasm during the cell cycle. Short-wave ultraviolet light provokes the relocalization of the protein, suggesting its participation in the cellular response to DNA damage. Originally selected based on protein-binding with RecA antibodies, the mouse protein presents a limited similarity with a functional domain of the bacterial RecA protein, a characteristic shared by this human ortholog. Alternative splicing of this gene results in multiple transcript variants.

Source: NCBI Gene 22944 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 65 total
• Cancer dependency (DepMap): dependent in 98.4% of screened cell lines (common-essential)
• MANE Select transcript: NM_012311

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6327
Approved symbol	KIN
Name	Kin17 DNA and RNA binding protein
Location	10p14
Locus type	gene with protein product
Status	Approved
Aliases	KIN17, Rts2
Ensembl gene	ENSG00000151657
Ensembl biotype	protein_coding
OMIM	601720
Entrez	22944

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 3 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron, 1 nonsense_mediated_decay

ENST00000379562, ENST00000460089, ENST00000463666, ENST00000471320, ENST00000498098, ENST00000899952, ENST00000929809

RefSeq mRNA: 1 — MANE Select: NM_012311 NM_012311

CCDS: CCDS7080

Canonical transcript exons

ENST00000379562 — 13 exons

Exon	Start	End
ENSE00001000913	7775751	7775799
ENSE00001000919	7783081	7783175
ENSE00001000920	7778838	7779019
ENSE00001000922	7774831	7774891
ENSE00001211674	7750962	7756142
ENSE00001481660	7787820	7787993
ENSE00003477926	7759890	7759990
ENSE00003485730	7780264	7780307
ENSE00003521104	7763723	7763791
ENSE00003564436	7766053	7766103
ENSE00003586874	7769216	7769345
ENSE00003637258	7762457	7762556
ENSE00003668207	7780056	7780178

Expression profiles

Bgee: expression breadth ubiquitous, 274 present calls, max score 88.43.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.3486 / max 221.5980, expressed in 1783 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
108196	13.3486	1783

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
monocyte	CL:0000576	88.43	gold quality
mononuclear cell	CL:0000842	88.02	gold quality
leukocyte	CL:0000738	87.54	gold quality
calcaneal tendon	UBERON:0003701	86.29	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	85.07	gold quality
adrenal tissue	UBERON:0018303	84.32	gold quality
mucosa of transverse colon	UBERON:0004991	84.23	gold quality
ganglionic eminence	UBERON:0004023	84.14	gold quality
buccal mucosa cell	CL:0002336	83.56	silver quality
descending thoracic aorta	UBERON:0002345	83.31	gold quality
colonic epithelium	UBERON:0000397	83.17	gold quality
left lobe of thyroid gland	UBERON:0001120	83.12	gold quality
popliteal artery	UBERON:0002250	83.11	gold quality
tibial artery	UBERON:0007610	83.11	gold quality
body of pancreas	UBERON:0001150	83.01	gold quality
gingival epithelium	UBERON:0001949	83.01	gold quality
left uterine tube	UBERON:0001303	82.92	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.89	gold quality
aorta	UBERON:0000947	82.89	gold quality
thoracic aorta	UBERON:0001515	82.87	gold quality
ventricular zone	UBERON:0003053	82.87	gold quality
ascending aorta	UBERON:0001496	82.85	gold quality
left coronary artery	UBERON:0001626	82.79	gold quality
endothelial cell	CL:0000115	82.73	gold quality
thyroid gland	UBERON:0002046	82.69	gold quality
granulocyte	CL:0000094	82.63	gold quality
cortical plate	UBERON:0005343	82.53	gold quality
right ovary	UBERON:0002118	82.49	gold quality
right adrenal gland cortex	UBERON:0035827	82.44	gold quality
ectocervix	UBERON:0012249	82.42	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.12

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): XPC

miRNA regulators (miRDB)

203 targeting KIN, 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-3613-3P	100.00	76.36	7965
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-3924	100.00	72.09	2394
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-512-3P	99.97	67.35	1049
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-1468-3P	99.96	72.74	3797

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 98.4% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 20)

• ionizing radiation triggers chromatin complex formation in human cells (PMID:11880372)
• The overexpression of human kin17 protein in vivo and the introduction of increased amounts of human kin17 protein in an in vitro assay reduced T-antigen-dependent DNA replication. (PMID:12359749)
• results indicate the presence of functional XPA and XPC proteins is essential for the up-regulation of the KIN17 gene after UVC irradiation; also show that the integrity of global genome repair is required to trigger KIN17 gene expression (PMID:12525703)
• KIN17 protein may be a component of the DNA replication machinery that participates in the cellular response to unrepaired DSBs, and an impaired KIN17 pathway leads to an increased sensitivity to ionizing radiation. (PMID:12751957)
• A chromatin-associated protein conserved during evolution and overproduced in certain human tumor cell lines, which is involved in DNA replication. (PMID:12754299)
• Kin17 protein strongly associates in vivo with DNA fragments containing replication origins in both human HeLa and monkey CV-1 cells. (PMID:15831485)
• C-terminal domain of human KIN17 has a basic pI, heavy-atom derivatives were obtained by soaking crystals with negatively charged ions such as tungstate & iodine. Replacement of LiCl by KI in cryosolution allowed determination of phases from iodide ions. (PMID:16511313)
• Analysis of KIN17 structure complexed with tungstate shows structural variability within the domain (PMID:17045609)
• Thus, human KIN17 region 51-160 might rather be involved in protein-protein interaction through its conserved surface centered on the 3(10)-helix. (PMID:18029424)
• up-regulation of kin17 is strongly associated with cellular proliferation, DNA replication, DNA damage response and breast cancer development (PMID:21980430)
• Trimethylated at Lys-135 by METTL22 (PMID:23349634)
• overexpression of KIN rendered colorectal cancer cells enriching cancer stem cell (CSC) markers and CSC phenotype, and silencing KIN reduced CSC markers and CSC phenotype. (PMID:24755081)
• Findings demonstrate that kin17 is closely related to the cell proliferation and invasion of cervical cancer. (PMID:28346239)
• characterization and molecular phylogeny of human KIN protein (PMID:31309277)
• Kin17 facilitates thyroid cancer cell proliferation, migration, and invasion by activating p38 MAPK signaling pathway. (PMID:33201383)
• KIN17 promotes tumor metastasis by activating EMT signaling in luminal-A breast cancer. (PMID:34008927)
• [1]H, [15]N, and [13]C resonance assignments of the SH3-like tandem domain of human KIN protein. (PMID:34417717)
• Interactome Analysis of KIN (Kin17) Shows New Functions of This Protein. (PMID:34449532)
• KIN17 promotes cell migration and invasion through stimulating the TGF-beta/Smad2 pathway in hepatocellular carcinoma. (PMID:36468848)
• KIN17 functions in DNA damage repair and chemosensitivity by modulating RAD51 in hepatocellular carcinoma. (PMID:38935235)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	kin	ENSDARG00000045515
mus_musculus	Kin	ENSMUSG00000037262
rattus_norvegicus	Kin	ENSRNOG00000026690
drosophila_melanogaster	kin17	FBGN0024887
caenorhabditis_elegans	dxbp-1	WBGENE00013128

Protein

Protein identifiers

DNA/RNA-binding protein KIN17 — O60870 (reviewed: O60870)

Alternative names: Binding to curved DNA, KIN, antigenic determinant of recA protein homolog

All UniProt accessions (2): O60870, S4R357

UniProt curated annotations — full annotation on UniProt →

Function. Involved in DNA replication and the cellular response to DNA damage. May participate in DNA replication factories and create a bridge between DNA replication and repair mediated by high molecular weight complexes. May play a role in illegitimate recombination and regulation of gene expression. May participate in mRNA processing. Binds, in vitro, to double-stranded DNA. Also shown to bind preferentially to curved DNA in vitro and in vivo. Binds via its C-terminal domain to RNA in vitro.

Subunit / interactions. Associated with DNA polymerase alpha, RFC1 and cyclin A, in multiprotein DNA replication complexes. Also associates with replication origins at the G1/S phase boundary and throughout the S phase in vivo. (Microbial infection) Interacts with SV40 large T antigen.

Subcellular location. Nucleus. Cytoplasm.

Tissue specificity. Ubiquitously expressed in all tissues examined, with highest levels in skeletal muscle, heart and testis. Differentially expressed in non-tumorigenic and tumorigenic cell lines. Highly expressed in proliferating epithelial keratinocyte cells in vitro (at protein level).

Domain organisation. The C-terminal domain (268-393) is organized into 2 subdomains that bear structural similarities to SH3-like domains. Both subdomains adopt a similar 5-stranded beta-barrel-like fold and are connected to each other by a short linker of 5 residues. The 5 beta-sheets are packed at approximately right angles against each other. A highly conserved groove formed at the interface between the 2 subdomains, comprised of Lys residues 302 and 391 and other positively charged residues, may possibly be the site of RNA-binding.

Induction. By UVC irradiation in quiescent primary fibroblasts. By mitomycin C in human melanoma MeWO cells.

Miscellaneous. Recognized by antibodies directed against the RecA protein.

Similarity. Belongs to the KIN17 family.

Isoforms (2)

UniProt ID	Names	Canonical?
O60870-1	1	yes
O60870-2	2

RefSeq proteins (1): NP_036443* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR014722	Rib_uL2_dom2	Homologous_superfamily
IPR019447	DNA/RNA-bd_Kin17_WH-like_dom	Domain
IPR036236	Znf_C2H2_sf	Homologous_superfamily
IPR037321	KIN17-like	Family
IPR038254	KIN17_WH-like_sf	Homologous_superfamily
IPR041330	KN17_SH3	Domain
IPR041995	KOW_KIN17	Domain
IPR056767	C2H2-Znf_KIN17	Domain

Pfam: PF10357, PF18131, PF25092, PF25095

UniProt features (44 total): strand 13, helix 11, turn 5, region of interest 4, mutagenesis site 3, modified residue 2, coiled-coil region 2, chain 1, zinc finger region 1, splice variant 1, compositionally biased region 1

Structure

Experimental structures (PDB)

6 structures.

PDB	Method	Resolution (Å)
2CKK	X-RAY DIFFRACTION	1.45
8I0P	ELECTRON MICROSCOPY	3.4
7ABH	ELECTRON MICROSCOPY	4.5
7ABI	ELECTRON MICROSCOPY	8
2V1N	SOLUTION NMR
9COJ	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O60870-F1	78.67	0.35

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (2): 135, 135

Mutagenesis-validated functional residues (3):

Position	Phenotype
135	almost complete loss of in vitro methylation by mettl22.
302	significant reduction of rna-binding activity.
391	significant reduction of rna-binding activity.

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-8876725	Protein methylation
R-HSA-392499	Metabolism of proteins
R-HSA-597592	Post-translational protein modification

MSigDB gene sets: 147 (showing top): BROWNE_HCMV_INFECTION_6HR_DN, TGACCTY_ERR1_Q2, CEBP_Q2, GOBP_RNA_SPLICING, GOBP_DNA_DAMAGE_RESPONSE, SCHLOSSER_SERUM_RESPONSE_DN, DEBIASI_APOPTOSIS_BY_REOVIRUS_INFECTION_UP, MCCLUNG_COCAIN_REWARD_4WK, GOBP_DNA_REPLICATION, TGACCTTG_SF1_Q6, GOCC_U2_TYPE_SPLICEOSOMAL_COMPLEX, GOCC_SPLICEOSOMAL_COMPLEX, CHEN_HOXA5_TARGETS_9HR_UP, GOCC_RIBONUCLEOPROTEIN_COMPLEX, GOBP_DNA_METABOLIC_PROCESS

GO Biological Process (5): DNA replication (GO:0006260), DNA repair (GO:0006281), DNA recombination (GO:0006310), mRNA processing (GO:0006397), DNA damage response (GO:0006974)

GO Molecular Function (6): DNA binding (GO:0003677), double-stranded DNA binding (GO:0003690), RNA binding (GO:0003723), zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (6): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829), nuclear matrix (GO:0016363), protein-containing complex (GO:0032991), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Post-translational protein modification	1
Metabolism of proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
DNA metabolic process	3
nucleic acid binding	2
nuclear lumen	2
DNA biosynthetic process	1
DNA damage response	1
RNA processing	1
mRNA metabolic process	1
cellular response to stress	1
DNA binding	1
transition metal ion binding	1
binding	1
cation binding	1
intracellular membrane-bounded organelle	1
cytoplasm	1
cellular_component	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

706 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KIN	RAD51	Q06609	755
KIN	METTL22	Q9BUU2	744
KIN	METTL21A	Q8WXB1	687
KIN	METTL18	O95568	665
KIN	VCPKMT	Q9H867	658
KIN	ETFBKMT	Q8IXQ9	656
KIN	METTL23	Q86XA0	627
KIN	EEF2KMT	Q96G04	609
KIN	CAMKMT	Q7Z624	578
KIN	METTL21C	Q5VZV1	570
KIN	SF3A3	Q12874	528
KIN	EEF1AKMT3	Q96AZ1	520
KIN	SF3A2	Q15428	493
KIN	EEF1AKMT2	Q5JPI9	445
KIN	RPL3	P39023	433

IntAct

27 interactions, top by confidence:

A	B	Type	Score
KIN		psi-mi:“MI:0915”(physical association)	0.540
	KIN	psi-mi:“MI:0407”(direct interaction)	0.540
METTL22	KIN	psi-mi:“MI:0914”(association)	0.500
METTL22	KIN	psi-mi:“MI:0915”(physical association)	0.500
KIN	C16orf78	psi-mi:“MI:0915”(physical association)	0.400
PLCL1	KIN	psi-mi:“MI:0915”(physical association)	0.400
Bud13	DDX39A	psi-mi:“MI:0915”(physical association)	0.400
Lgals3bp	CS	psi-mi:“MI:0914”(association)	0.350
PLEKHA7	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
METTL22	KIN	psi-mi:“MI:0914”(association)	0.350
SNRPA	DDX39A	psi-mi:“MI:0914”(association)	0.350
SNRPB	DDX39A	psi-mi:“MI:0914”(association)	0.350
SNRPC	DDX39A	psi-mi:“MI:0914”(association)	0.350
HNRNPCL2	SMCHD1	psi-mi:“MI:0914”(association)	0.350
RRAS	KIN	psi-mi:“MI:0914”(association)	0.350
DDX28	UBA6	psi-mi:“MI:0914”(association)	0.350
SF3B1	RBM10	psi-mi:“MI:0914”(association)	0.350
SF3B1	FAM83G	psi-mi:“MI:0914”(association)	0.350
DGCR8	VWA8	psi-mi:“MI:2364”(proximity)	0.270
GPKOW	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
LIN28B	MEX3A	psi-mi:“MI:2364”(proximity)	0.270
SRSF7	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
NPM1	SBNO1	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (87): DNAJC17 (Co-fractionation), EIF2D (Co-fractionation), KIN (Co-fractionation), RECQL5 (Co-fractionation), KIN (Affinity Capture-MS), KIN (Affinity Capture-MS), KIN (Affinity Capture-RNA), RPA2 (Co-fractionation), RPA1 (Co-fractionation), KIN (Affinity Capture-MS), METTL22 (Affinity Capture-MS), KIN (Affinity Capture-MS), BUD13 (Affinity Capture-MS), DDX17 (Affinity Capture-MS), DDX5 (Affinity Capture-MS)

ESM2 similar proteins: A0JNC0, A1A5Q0, A2VE39, A4IHS2, D2HRF1, E1BTG2, O08808, O14730, O35226, O60870, O95801, P28289, P42898, P49813, P70566, P70567, Q0VC48, Q13576, Q1JQD4, Q1RMT7, Q2M146, Q3UQ44, Q58DA0, Q5BLF0, Q5EA11, Q5I598, Q5R981, Q5U2Z5, Q60HE5, Q6GNS3, Q6P2Z6, Q6P5Q4, Q6TH47, Q7T0W1, Q7ZXX9, Q803R5, Q8K339, Q8N1G2, Q8R3H9, Q8R424

Diamond homologs: A2XIP9, F4KDD7, O60870, P40962, Q55D16, Q75LU5, Q8K339, Q9Y7X9, Q9ZVU5, Q6NU07, Q90X38, Q9C801

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 29 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
mRNA Splicing	5	34.3×	4e-06
mRNA Polyadenylation	6	32.9×	5e-07
Processing of Capped Intron-Containing Pre-mRNA	6	30.8×	5e-07
mRNA Splicing - Major Pathway	7	23.9×	4e-07
Metabolism of RNA	5	13.0×	4e-04

GO biological processes:

GO term	Partners	Fold	FDR
mRNA splicing, via spliceosome	7	29.1×	3e-07

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	43
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1918 predictions. Top by Δscore:

Variant	Effect	Δscore
10:7756082:AGG:A	donor_gain	1.0000
10:7759884:ACTT:A	donor_loss	1.0000
10:7759885:CTT:C	donor_loss	1.0000
10:7759886:TTA:T	donor_loss	1.0000
10:7759887:T:TG	donor_loss	1.0000
10:7759888:A:AC	donor_gain	1.0000
10:7759888:ACAGT:A	donor_loss	1.0000
10:7759889:C:CG	donor_gain	1.0000
10:7759889:CA:C	donor_gain	1.0000
10:7759889:CAG:C	donor_gain	1.0000
10:7759889:CAGT:C	donor_gain	1.0000
10:7759889:CAGTT:C	donor_gain	1.0000
10:7759987:TTTC:T	acceptor_gain	1.0000
10:7759988:TTC:T	acceptor_gain	1.0000
10:7759988:TTCC:T	acceptor_loss	1.0000
10:7759989:TC:T	acceptor_gain	1.0000
10:7759989:TCCT:T	acceptor_loss	1.0000
10:7759990:CC:C	acceptor_gain	1.0000
10:7759990:CCT:C	acceptor_loss	1.0000
10:7759991:C:CC	acceptor_gain	1.0000
10:7759996:A:AC	acceptor_gain	1.0000
10:7762452:TTTA:T	donor_loss	1.0000
10:7762453:TTA:T	donor_loss	1.0000
10:7762454:TA:T	donor_loss	1.0000
10:7762455:AC:A	donor_loss	1.0000
10:7762456:CCTGG:C	donor_loss	1.0000
10:7762553:CTTC:C	acceptor_gain	1.0000
10:7762556:CCTG:C	acceptor_loss	1.0000
10:7762557:C:CC	acceptor_gain	1.0000
10:7762557:CTGT:C	acceptor_loss	1.0000

AlphaMissense

2581 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:7778987:A:G	W137R	1.000
10:7778987:A:T	W137R	1.000
10:7778990:C:G	G136R	1.000
10:7779012:G:C	C128W	1.000
10:7780088:A:G	L115P	1.000
10:7780096:C:A	W112C	1.000
10:7780096:C:G	W112C	1.000
10:7780097:C:G	W112S	1.000
10:7780098:A:G	W112R	1.000
10:7780098:A:T	W112R	1.000
10:7780107:C:G	A109P	1.000
10:7780108:A:C	N108K	1.000
10:7780108:A:T	N108K	1.000
10:7780112:A:G	M107T	1.000
10:7780114:G:C	H106Q	1.000
10:7780114:G:T	H106Q	1.000
10:7780116:G:C	H106D	1.000
10:7780116:G:T	H106N	1.000
10:7780136:A:T	I99N	1.000
10:7780149:A:G	Y95H	1.000
10:7780151:A:T	V94D	1.000
10:7780166:A:T	V89D	1.000
10:7780265:A:C	F84L	1.000
10:7780265:A:T	F84L	1.000
10:7780267:A:G	F84L	1.000
10:7783129:A:G	L54P	1.000
10:7783134:T:A	R52S	1.000
10:7783134:T:G	R52S	1.000
10:7783135:C:G	R52T	1.000
10:7783140:A:C	H50Q	1.000

dbSNP variants (sampled 300 via entrez): RS1000056538 (10:7766900 T>C), RS1000077012 (10:7781279 A>C), RS1000099604 (10:7785227 G>A), RS1000103661 (10:7767171 T>C), RS1000154991 (10:7779728 A>C), RS1000161219 (10:7760431 T>A), RS1000173401 (10:7763755 C>T), RS1000338936 (10:7754368 C>T), RS1000342857 (10:7769545 T>G), RS1000354617 (10:7773167 C>A,G,T), RS1000483253 (10:7789570 C>G,T), RS1000535708 (10:7789946 A>C), RS1000563218 (10:7764884 G>C), RS1000616653 (10:7760758 T>C), RS1000696483 (10:7756893 C>T)

Disease associations

OMIM: gene MIM:601720 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST009798_79	Asthma	1.000000e-06
GCST90002396_477	Mean reticulocyte volume	5.000000e-10

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0010701	mean reticulocyte volume

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Smoke	decreases expression, increases abundance	2
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
trichostatin A	affects expression	1
sodium arsenite	increases abundance, increases expression	1
manganese chloride	increases abundance, increases expression	1
2-palmitoylglycerol	increases expression	1
Air Pollutants	increases abundance, decreases expression	1
Arsenic	increases expression, increases abundance	1
Caffeine	increases phosphorylation	1
Estradiol	increases expression	1
Formaldehyde	decreases expression	1
Gold	decreases expression	1
Hydrogen Peroxide	increases expression, affects cotreatment	1
Manganese	increases abundance, increases expression	1
Theophylline	affects cotreatment, increases expression	1
Thiram	increases expression	1
Tobacco Smoke Pollution	increases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Cyclosporine	increases expression	1
Copper Sulfate	increases expression	1
Lactic Acid	decreases expression	1
Volatile Organic Compounds	affects expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_KT69	HeLa SilenciX KIN17	Cancer cell line	Female

Clinical trials (associated diseases)

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