KIAA0319L

Summary

KIAA0319L (KIAA0319 like, HGNC:30071) is a protein-coding gene on chromosome 1p34.3, encoding Dyslexia-associated protein KIAA0319-like protein (Q8IZA0). Possible role in axon guidance through interaction with RTN4R.

Predicted to be involved in neuron migration. Predicted to act upstream of or within several processes, including flagellated sperm motility; proacrosomal vesicle fusion; and receptor-mediated endocytosis of virus by host cell. Located in Golgi apparatus; cytoplasmic vesicle; and nucleolus.

Source: NCBI Gene 79932 — RefSeq curated summary.

At a glance

• Gene–disease (curated): systemic lupus erythematosus (Supportive, GenCC)
• GWAS associations: 1
• Clinical variants (ClinVar): 139 total
• Phenotypes (HPO): 59
• MANE Select transcript: NM_024874

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30071
Approved symbol	KIAA0319L
Name	KIAA0319 like
Location	1p34.3
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1837, AAVR
Ensembl gene	ENSG00000142687
Ensembl biotype	protein_coding
OMIM	613535
Entrez	79932

Gene structure

Transcript identifiers

Ensembl transcripts: 85 — 42 protein_coding, 25 nonsense_mediated_decay, 9 protein_coding_CDS_not_defined, 9 retained_intron

ENST00000325722, ENST00000373266, ENST00000426982, ENST00000431916, ENST00000440579, ENST00000461312, ENST00000467109, ENST00000469892, ENST00000473423, ENST00000473465, ENST00000473844, ENST00000474856, ENST00000476329, ENST00000478463, ENST00000482929, ENST00000485551, ENST00000492544, ENST00000492888, ENST00000494948, ENST00000697000, ENST00000697001, ENST00000697002, ENST00000697003, ENST00000697004, ENST00000697005, ENST00000697006, ENST00000697007, ENST00000697008, ENST00000697009, ENST00000697010, ENST00000697011, ENST00000697012, ENST00000697013, ENST00000697014, ENST00000697015, ENST00000697016, ENST00000697017, ENST00000697018, ENST00000697019, ENST00000697020, ENST00000697021, ENST00000697022, ENST00000697023, ENST00000697024, ENST00000697025, ENST00000697026, ENST00000697027, ENST00000697028, ENST00000697029, ENST00000697030, ENST00000697031, ENST00000697032, ENST00000697033, ENST00000697034, ENST00000867826, ENST00000867827, ENST00000867828, ENST00000867829, ENST00000867830, ENST00000867831, ENST00000867832, ENST00000867833, ENST00000930782, ENST00000930783, ENST00000930784, ENST00000930785, ENST00000930786, ENST00000930787, ENST00000930788, ENST00000930789, ENST00000930790, ENST00000930791, ENST00000930792, ENST00000930793, ENST00000930794, ENST00000961868, ENST00000961869, ENST00000961870, ENST00000961871, ENST00000961872, ENST00000961873, ENST00000961874, ENST00000961875, ENST00000961876, ENST00000961877

RefSeq mRNA: 1 — MANE Select: NM_024874 NM_024874

CCDS: CCDS390

Canonical transcript exons

ENST00000325722 — 21 exons

Exon	Start	End
ENSE00001718966	35433492	35435081
ENSE00003474010	35478966	35479212
ENSE00003520996	35470863	35470960
ENSE00003531788	35554350	35554519
ENSE00003569620	35466608	35466695
ENSE00003647944	35506612	35507135
ENSE00003649893	35474805	35474906
ENSE00003969242	35454362	35454485
ENSE00003969256	35450358	35450509
ENSE00003969264	35453557	35453689
ENSE00003969274	35448173	35448332
ENSE00003969275	35449867	35450005
ENSE00003969284	35456013	35456241
ENSE00003969289	35442246	35442336
ENSE00003969295	35441047	35441138
ENSE00003969297	35557207	35557403
ENSE00003969305	35451628	35451776
ENSE00003969307	35462621	35462713
ENSE00003969312	35444161	35444303
ENSE00003969313	35442906	35443028
ENSE00003969323	35460305	35460437

Expression profiles

Bgee: expression breadth ubiquitous, 271 present calls, max score 97.48.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 22.5165 / max 282.6214, expressed in 1813 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
11678	21.4869	1812
11679	0.5659	311
11680	0.3434	146
11677	0.1113	49
11676	0.0090	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	97.48	gold quality
body of pancreas	UBERON:0001150	96.43	gold quality
adrenal tissue	UBERON:0018303	95.49	gold quality
tibial nerve	UBERON:0001323	94.69	gold quality
left lobe of thyroid gland	UBERON:0001120	94.64	gold quality
right adrenal gland cortex	UBERON:0035827	94.64	gold quality
rectum	UBERON:0001052	94.61	gold quality
pituitary gland	UBERON:0000007	94.58	gold quality
right adrenal gland	UBERON:0001233	94.56	gold quality
minor salivary gland	UBERON:0001830	94.55	gold quality
thyroid gland	UBERON:0002046	94.55	gold quality
right lobe of thyroid gland	UBERON:0001119	94.53	gold quality
granulocyte	CL:0000094	94.48	gold quality
pancreas	UBERON:0001264	94.40	gold quality
monocyte	CL:0000576	94.39	gold quality
adenohypophysis	UBERON:0002196	94.35	gold quality
mononuclear cell	CL:0000842	94.33	gold quality
adrenal gland	UBERON:0002369	94.31	gold quality
left adrenal gland	UBERON:0001234	94.29	gold quality
saliva-secreting gland	UBERON:0001044	94.23	gold quality
leukocyte	CL:0000738	94.21	gold quality
adrenal cortex	UBERON:0001235	94.21	gold quality
left adrenal gland cortex	UBERON:0035825	94.18	gold quality
body of stomach	UBERON:0001161	94.17	gold quality
apex of heart	UBERON:0002098	94.13	gold quality
right lung	UBERON:0002167	94.10	gold quality
blood	UBERON:0000178	93.95	gold quality
heart left ventricle	UBERON:0002084	93.94	gold quality
stomach	UBERON:0000945	93.91	gold quality
upper lobe of left lung	UBERON:0008952	93.89	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	15.39
E-MTAB-6075	no	406.02

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

79 targeting KIAA0319L, 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-513A-5P	100.00	69.77	2465
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-145-5P	99.92	71.13	1836
HSA-MIR-5195-3P	99.92	70.92	1877
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-454-3P	99.91	74.01	1925
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-3666	99.90	73.24	1833
HSA-MIR-130A-3P	99.90	73.31	1861
HSA-MIR-130B-3P	99.90	73.27	1850
HSA-MIR-301A-3P	99.90	73.15	1839
HSA-MIR-301B-3P	99.90	73.19	1836
HSA-MIR-4295	99.90	73.11	1838
HSA-MIR-7162-3P	99.89	68.16	1682
HSA-MIR-4671-3P	99.88	72.46	1045
HSA-MIR-4503	99.85	71.45	1869
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-199A-3P	99.75	70.48	929
HSA-MIR-199B-3P	99.75	70.48	929

Literature-anchored findings (GeneRIF, showing 8)

• KIAA0319L remains an intriguing positional and functional candidate for RD, especially when considered alongside the supporting evidence for its homolog KIAA0319 on chromosome 6p. (PMID:19085271)
• Kiaa0319-like protein interacts with Nogo Receptor 1, supporting the idea that Kiaa0319-like protein participates in axon guidance. (PMID:20697954)
• Results identify KIAA0319L as novel susceptibility loci for Systemic sclerosis (SSc) and systemic lupus erythematosus (SLE). KIAA0319L was overexpressed in peripheral blood cells of SSc and SLE patients compared with healthy controls. (PMID:23740937)
• genetic association study in Han population in China: Data suggest an SNP in PXK [rs2176082(C/T); but not rs6445975(G/T)] is associated with recurrent pregnancy loss; SNPs in KIAA0319L [rs2275247(A/G)] or JAZF1 [rs1635852(C/T)] are not associated. (PMID:25596907)
• AAVR directly binds to AAV2 particles, and that anti-AAVR antibodies efficiently block AAV2 infection; moreover, genetic ablation of AAVR renders a wide range of mammalian cell types highly resistant to AAV2 infection (PMID:26814968)
• Optic nerve damage may change retinal architecture to allow greater penetration of an AAV2 virus to transduce several additional cell types in the inner nuclear layer. (PMID:29204649)
• Identification of diagnostic markers and immune cell infiltration characteristics in antineutrophil cytoplasmic antibody-associated vasculitis by weighted gene co-expression network analysis. (PMID:35246248)
• Comprehensive biophysical characterization of AAV-AAVR interaction uncovers serotype- and pH-dependent interaction. (PMID:37441888)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	kiaa0319l	ENSDARG00000035660
mus_musculus	AU040320	ENSMUSG00000028830
rattus_norvegicus	KIAA0319l	ENSRNOG00000012204
drosophila_melanogaster	CG7565	FBGN0035833
caenorhabditis_elegans		WBGENE00010792
caenorhabditis_elegans		WBGENE00015355
caenorhabditis_elegans		WBGENE00021939

Paralogs (13): TFPI (ENSG00000003436), EPPIN (ENSG00000101448), TFPI2 (ENSG00000105825), AMBP (ENSG00000106927), LRP11 (ENSG00000120256), WFIKKN1 (ENSG00000127578), KIAA0319 (ENSG00000137261), SPINT4 (ENSG00000149651), WFDC8 (ENSG00000158901), SPINT1 (ENSG00000166145), SPINT2 (ENSG00000167642), WFIKKN2 (ENSG00000173714), WFDC6 (ENSG00000243543)

Protein

Protein identifiers

Dyslexia-associated protein KIAA0319-like protein — Q8IZA0 (reviewed: Q8IZA0)

Alternative names: Adeno-associated virus receptor

All UniProt accessions (27): Q8IZA0, A0A8V8TKK6, A0A8V8TKL0, A0A8V8TKL4, A0A8V8TKL7, A0A8V8TKL9, A0A8V8TKM4, A0A8V8TKM7, A0A8V8TKX7, A0A8V8TKY4, A0A8V8TKY8, A0A8V8TKZ6, A0A8V8TLT1, A0A8V8TLT6, A0A8V8TLU1, A0A8V8TLV0, A0A8V8TLV6, A0A8V8TM14, A0A8V8TM29, A0A8V8TM39, B1AN15, B4DYG9, C9JQ56, C9JVB2, E7EN73, F8WAW2, H0Y4S8

UniProt curated annotations — full annotation on UniProt →

Function. Possible role in axon guidance through interaction with RTN4R. (Microbial infection) Acts as a receptor for adeno-associated virus and is involved in adeno-associated virus infection through endocytosis system.

Subunit / interactions. Interacts with RTN4R. (Microbial infection) Interacts with AAV-2 VP1.

Subcellular location. Cytoplasmic granule membrane. Golgi apparatus membrane. Golgi apparatus. trans-Golgi network membrane. Cell membrane.

Tissue specificity. Expressed in cortical neurons in the brain cortex (at protein level).

Post-translational modifications. N-glycosylated.

Isoforms (3)

UniProt ID	Names	Canonical?
Q8IZA0-1	1	yes
Q8IZA0-2	2
Q8IZA0-3	3

RefSeq proteins (1): NP_079150* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000601	PKD_dom	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR013980	MANSC_dom	Domain
IPR022409	PKD/Chitinase_dom	Domain
IPR029865	KIAA0319-like	Family
IPR035986	PKD_dom_sf	Homologous_superfamily
IPR056502	KIAA0319-like_C	Domain

Pfam: PF22352, PF23597, PF23620

UniProt features (58 total): strand 25, domain 6, modified residue 5, glycosylation site 5, sequence conflict 4, topological domain 3, splice variant 3, transmembrane region 2, sequence variant 2, chain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

9 structures.

PDB	Method	Resolution (Å)
6NZ0	ELECTRON MICROSCOPY	2.4
7TI5	ELECTRON MICROSCOPY	2.4
7KPN	ELECTRON MICROSCOPY	2.5
6IHB	ELECTRON MICROSCOPY	2.84
6JCS	ELECTRON MICROSCOPY	3.18
7WJX	ELECTRON MICROSCOPY	3.23
6JCQ	ELECTRON MICROSCOPY	3.3
7WQP	ELECTRON MICROSCOPY	3.76
2YRL	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IZA0-F1	71.79	0.31

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 (5): 974, 978, 1009, 1031, 1037

Glycosylation sites (5): 247, 395, 472, 487, 525

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 258 (showing top): YANG_BREAST_CANCER_ESR1_LASER_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_NEUROGENESIS, GOCC_TRANS_GOLGI_NETWORK, DOANE_RESPONSE_TO_ANDROGEN_DN, chr1p34, GOBP_NEURON_MIGRATION, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, LIU_SOX4_TARGETS_DN, CHARAFE_BREAST_CANCER_LUMINAL_VS_MESENCHYMAL_UP, LEE_RECENT_THYMIC_EMIGRANT, GARY_CD5_TARGETS_UP, GOCC_TRANS_GOLGI_NETWORK_MEMBRANE, GOCC_ORGANELLE_SUBCOMPARTMENT, NUYTTEN_NIPP1_TARGETS_DN

GO Biological Process (7): neuron migration (GO:0001764), response to auditory stimulus (GO:0010996), receptor-mediated endocytosis of virus by host cell (GO:0019065), flagellated sperm motility (GO:0030317), proacrosomal vesicle fusion (GO:0120211), acrosome assembly (GO:0001675), spermatogenesis (GO:0007283)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (8): Golgi membrane (GO:0000139), nucleolus (GO:0005730), Golgi apparatus (GO:0005794), plasma membrane (GO:0005886), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410), trans-Golgi network membrane (GO:0032588), trans-Golgi network (GO:0005802)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
developmental process involved in reproduction	2
cytoplasm	2
cell migration	1
generation of neurons	1
response to mechanical stimulus	1
receptor-mediated endocytosis	1
symbiont entry into host cell	1
endocytosis involved in viral entry into host cell	1
cilium-dependent cell motility	1
cilium movement involved in cell motility	1
sperm motility	1
acrosome assembly	1
vesicle fusion	1
spermatid development	1
cellular component assembly involved in morphogenesis	1
cellular process involved in reproduction in multicellular organism	1
secretory granule organization	1
organelle assembly	1
male gamete generation	1
binding	1
Golgi apparatus	1
bounding membrane of organelle	1
nuclear lumen	1
intracellular membraneless organelle	1
endomembrane system	1
intracellular membrane-bounded organelle	1
membrane	1
cell periphery	1
cellular anatomical structure	1
intracellular vesicle	1
trans-Golgi network	1
organelle membrane	1
Golgi apparatus subcompartment	1

Protein interactions and networks

STRING

840 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KIAA0319L	RTN4R	Q9BZR6	816
KIAA0319L	PRKD1	Q15139	690
KIAA0319L	DCDC2	Q9UHG0	649
KIAA0319L	DNAAF4	Q8WXU2	647
KIAA0319L	GPR108	Q9NPR9	644
KIAA0319L	GCFC2	P16383	580
KIAA0319L	RPSA	P08865	571
KIAA0319L	DIP2A	Q14689	515
KIAA0319L	MRPL19	P49406	513
KIAA0319L	CPD	O75976	507
KIAA0319L	MET	P08581	454
KIAA0319L	FAM91A1	Q658Y4	446
KIAA0319L	PXK	Q7Z7A4	446
KIAA0319L	AFF3	P51826	443
KIAA0319L	C17orf75	Q9HAS0	435

IntAct

84 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
KIAA0319L	SIAH1	psi-mi:“MI:0915”(physical association)	0.560
SIAH1	KIAA0319L	psi-mi:“MI:0915”(physical association)	0.560
RTN4R	KIAA0319L	psi-mi:“MI:0915”(physical association)	0.540
KIAA0319L	RTN4R	psi-mi:“MI:0915”(physical association)	0.540
KIAA0319L	RTN4R	psi-mi:“MI:0403”(colocalization)	0.540
MGAT4C	GXYLT2	psi-mi:“MI:0914”(association)	0.530
FBXO2	TMEM131L	psi-mi:“MI:0914”(association)	0.530
TMEM30B	KLRG2	psi-mi:“MI:0914”(association)	0.530
FCN1	POTEF	psi-mi:“MI:0914”(association)	0.530
CD4	CCDC85C	psi-mi:“MI:0914”(association)	0.530
LRRTM1	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
LGALS1	PODXL	psi-mi:“MI:0914”(association)	0.530
LGALS3	PODXL	psi-mi:“MI:0914”(association)	0.530
PCDHB7	C2CD2L	psi-mi:“MI:0914”(association)	0.530
TMX1	NRP1	psi-mi:“MI:0914”(association)	0.530
LACRT	PLXNA2	psi-mi:“MI:0914”(association)	0.530
MMP3	APOE	psi-mi:“MI:0914”(association)	0.530
LGALS1	LAMA5	psi-mi:“MI:0914”(association)	0.530
ANKH	FAM234B	psi-mi:“MI:0914”(association)	0.530
NRAS	ESYT2	psi-mi:“MI:2364”(proximity)	0.480
KIAA0319L	MSN	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (144): KIAA0319L (Two-hybrid), KIAA0319L (Affinity Capture-MS), KIAA0319L (Affinity Capture-MS), KIAA0319L (Affinity Capture-MS), KIAA0319L (Affinity Capture-MS), KIAA0319L (Affinity Capture-MS), KIAA0319L (Affinity Capture-MS), KIAA0319L (Affinity Capture-MS), KIAA0319L (Affinity Capture-MS), KIAA0319L (Proximity Label-MS), KIAA0319L (Proximity Label-MS), KIAA0319L (Affinity Capture-MS), KIAA0319L (Affinity Capture-MS), KIAA0319L (Affinity Capture-MS), KIAA0319L (Affinity Capture-MS)

ESM2 similar proteins: A2AED3, B0CLX4, B2RU80, B3DK56, B3EX02, E2RK30, F1NWE3, O14522, O70458, O70535, O88488, P08922, P08941, P08F94, P0C5E4, P17948, P20352, P23467, P28827, P28828, P35822, P35969, P35992, P42702, P42703, P53767, P97378, Q15262, Q2EY13, Q2EY15, Q2VWP7, Q2VWP9, Q589G5, Q5RFR6, Q5VJ70, Q5VTL7, Q5XNR9, Q62959, Q63132, Q65Z14

Diamond homologs: P0CI71, Q5RFR6, Q5SZV5, Q5VV43, Q86VZ4, Q8CB67, Q8IZA0, Q8K135, Q9X721, P06682, P79755

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 107 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
Cargo recognition for clathrin-mediated endocytosis	5	7.9×	3e-03
Transport to the Golgi and subsequent modification	5	7.8×	3e-03
Signaling by Interleukins	7	6.8×	1e-03
Clathrin-mediated endocytosis	5	6.5×	7e-03
Asparagine N-linked glycosylation	7	6.4×	2e-03
Cytokine Signaling in Immune system	7	4.3×	7e-03
Vesicle-mediated transport	8	4.2×	4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	97
Likely benign	17
Benign	5

Top pathogenic / likely-pathogenic (0)

SpliceAI

5278 predictions. Top by Δscore:

Variant	Effect	Δscore
1:35396534:T:TA	acceptor_gain	1.0000
1:35396537:T:A	acceptor_gain	1.0000
1:35396540:T:A	acceptor_gain	1.0000
1:35396546:T:A	acceptor_gain	1.0000
1:35396671:G:GG	donor_gain	1.0000
1:35397372:TTCA:T	acceptor_loss	1.0000
1:35397374:CA:C	acceptor_loss	1.0000
1:35397375:A:AC	acceptor_loss	1.0000
1:35397376:G:GT	acceptor_loss	1.0000
1:35397541:GGGAG:G	donor_gain	1.0000
1:35397542:GGAG:G	donor_gain	1.0000
1:35397542:GGAGG:G	donor_gain	1.0000
1:35397543:G:T	donor_gain	1.0000
1:35397543:GAG:G	donor_gain	1.0000
1:35397543:GAGG:G	donor_gain	1.0000
1:35397544:AGG:A	donor_loss	1.0000
1:35398411:A:AC	acceptor_loss	1.0000
1:35398411:A:AG	acceptor_gain	1.0000
1:35398412:G:GG	acceptor_gain	1.0000
1:35398412:GA:G	acceptor_gain	1.0000
1:35398412:GAGT:G	acceptor_gain	1.0000
1:35398412:GAGTC:G	acceptor_gain	1.0000
1:35398463:AAAG:A	donor_loss	1.0000
1:35398464:AAG:A	donor_loss	1.0000
1:35398465:AGGTT:A	donor_loss	1.0000
1:35398466:GGTT:G	donor_loss	1.0000
1:35398468:T:A	donor_loss	1.0000
1:35398861:CA:C	acceptor_loss	1.0000
1:35398862:A:AG	acceptor_gain	1.0000
1:35398863:G:GG	acceptor_gain	1.0000

AlphaMissense

6897 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:35456057:A:G	W538R	1.000
1:35456057:A:T	W538R	1.000
1:35442334:A:G	W928R	0.999
1:35442334:A:T	W928R	0.999
1:35442908:C:G	C926S	0.999
1:35442909:A:T	C926S	0.999
1:35442974:C:G	C904S	0.999
1:35442975:A:T	C904S	0.999
1:35454424:A:G	L573P	0.999
1:35456055:C:A	W538C	0.999
1:35456055:C:G	W538C	0.999
1:35460400:C:A	W444C	0.999
1:35460400:C:G	W444C	0.999
1:35460402:A:G	W444R	0.999
1:35460402:A:T	W444R	0.999
1:35442907:A:C	C926W	0.998
1:35442908:C:A	C926F	0.998
1:35442908:C:T	C926Y	0.998
1:35442955:C:A	W910C	0.998
1:35442955:C:G	W910C	0.998
1:35442968:C:G	C906S	0.998
1:35442968:C:T	C906Y	0.998
1:35442969:A:T	C906S	0.998
1:35442975:A:G	C904R	0.998
1:35449929:A:G	L764P	0.998
1:35450390:A:G	W728R	0.998
1:35450390:A:T	W728R	0.998
1:35453568:C:A	W634C	0.998
1:35453568:C:G	W634C	0.998
1:35453570:A:G	W634R	0.998

dbSNP variants (sampled 300 via entrez): RS1000003016 (1:35472340 G>A), RS1000113533 (1:35481969 C>T), RS1000139899 (1:35489954 C>T), RS1000161867 (1:35511286 C>A), RS1000193437 (1:35521370 C>A), RS1000234945 (1:35476036 C>G), RS1000263613 (1:35526366 TAC>T), RS1000336196 (1:35514876 T>C), RS1000343223 (1:35558064 T>TG), RS1000357805 (1:35482420 A>G), RS1000376425 (1:35468963 T>C), RS1000411965 (1:35506417 T>C,G), RS1000414325 (1:35475927 A>C), RS1000509916 (1:35553742 A>T), RS1000516681 (1:35435424 G>A)

Disease associations

OMIM: gene MIM:613535 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
systemic lupus erythematosus	Supportive	Unknown

Mondo (1): systemic lupus erythematosus (MONDO:0007915)

Orphanet (0):

HPO phenotypes

59 total (30 of 59 shown, HPO-id order):

HPO	Term
HP:0000093	Proteinuria
HP:0000155	Oral ulcer
HP:0000488	Retinopathy
HP:0000716	Depression
HP:0000790	Hematuria
HP:0000822	Hypertension
HP:0000951	Abnormality of the skin
HP:0000992	Cutaneous photosensitivity
HP:0001000	Abnormality of skin pigmentation
HP:0001053	Hypopigmented skin patches
HP:0001250	Seizure
HP:0001369	Arthritis
HP:0001596	Alopecia
HP:0001824	Weight loss
HP:0001873	Thrombocytopenia
HP:0001878	Hemolytic anemia
HP:0001882	Decreased total leukocyte count
HP:0001945	Fever
HP:0002015	Dysphagia
HP:0002017	Nausea and vomiting
HP:0002020	Gastroesophageal reflux
HP:0002039	Anorexia
HP:0002072	Chorea
HP:0002092	Pulmonary arterial hypertension
HP:0002206	Pulmonary fibrosis
HP:0002716	Lymphadenopathy
HP:0002960	Autoimmunity
HP:0003453	Antineutrophil antibody positivity
HP:0003493	Antinuclear antibody positivity
HP:0005421	Decreased circulating complement C3 concentration

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST002069_1	Systemic lupus erythematosus and Systemic sclerosis	1.000000e-10

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D008180	Lupus Erythematosus, Systemic	C17.300.480; C20.111.590

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	3
Benzo(a)pyrene	decreases methylation, increases methylation, increases mutagenesis	2
aristolochic acid I	decreases expression	1
FR900359	increases phosphorylation	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, decreases methylation	1
perfluorooctanoic acid	decreases expression	1
coumarin	affects phosphorylation	1
bisphenol S	affects cotreatment, decreases expression	1
(+)-JQ1 compound	increases expression	1
Arsenic Trioxide	decreases expression	1
Fulvestrant	decreases methylation, affects cotreatment	1
Air Pollutants	affects expression, increases abundance	1
Caffeine	affects phosphorylation	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Doxorubicin	decreases expression	1
Indomethacin	decreases expression, affects cotreatment	1
Ozone	affects expression, increases abundance	1
Silicon Dioxide	increases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	increases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, decreases expression	1
Cyclosporine	decreases expression	1
Cadmium Chloride	decreases expression	1
Okadaic Acid	decreases expression	1
Copper Sulfate	decreases expression	1

Cellosaurus cell lines

4 cell lines: 3 transformed cell line, 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D7GP	Ubigene HEK293T KIAA0319L KO	Transformed cell line	Female
CVCL_D9HY	Ubigene HEK293 KIAA0319L KO	Transformed cell line	Female
CVCL_E1K6	HyCyte HEK293 KO-hKIAA0319L	Transformed cell line	Female
CVCL_XQ00	HAP1 KIAA0319L (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00120887	PHASE4	COMPLETED	Lupus Atherosclerosis Prevention Study
NCT00125307	PHASE4	COMPLETED	Tacrolimus for the Treatment of Systemic Lupus Erythematosus With Membranous Nephritis
NCT00188188	PHASE4	UNKNOWN	Study of Endothelial Dysfunction in Systemic Lupus and Its Role in Heart Disease
NCT00371501	PHASE4	COMPLETED	Aspirin and Statins for Prevention of Atherosclerosis and Arterial Thromboembolism in Systemic Lupus Erythematosus
NCT00392093	PHASE4	COMPLETED	Effect of Hormone Replacement Therapy on Lupus Activity
NCT00413361	PHASE4	COMPLETED	The Reduction of Systemic Lupus Erythematosus Flares :Study PLUS
NCT00508898	PHASE4	WITHDRAWN	The Efficacy and Safety of Calcitriol for the Treatment of Lupus Nephritis and Persistent Proteinuria
NCT00668330	PHASE4	COMPLETED	Steroid Induced Osteoporosis in Patients With Systemic Lupus Erythematosus
NCT00739050	PHASE4	TERMINATED	Effect of Simvastatin on Endothelial Function in Premenopausal Women With Systemic Lupus Erythematosus (0733-271)(TERMINATED)
NCT00815282	PHASE4	COMPLETED	Immune Response After Human Papillomavirus Vaccination in Patients With Autoimmune Disease
NCT00828178	PHASE4	COMPLETED	Efficacy of Fish Oil in Lupus Patients
NCT00866229	PHASE4	UNKNOWN	Efficacy and Adverse Effect of Simvastatin Compare to Rosuvastatin in Systemic Lupus Erythematosus (SLE) Patients With Corticosteroid Therapy and High Low-Density Lipoprotein (LDL) Cholesterol Level
NCT00911521	PHASE4	COMPLETED	Immunogenicity and Safety of a Quadrivalent Human Papillomavirus (HPV) Vaccine in Patients With SLE: a Controlled Study
NCT01101802	PHASE4	COMPLETED	Mycophenolate Mofetil in Systemic Lupus Erythematosus (MISSILE)
NCT01112215	PHASE4	COMPLETED	Enteric-coated Mycophenolate Sodium Versus Azathioprine for the Extra-renal Lupus Manifestations
NCT01151644	PHASE4	UNKNOWN	Safety and Efficacy of Anti-Pandemic H1N1 Vaccination in Rheumatic Diseases
NCT01276782	PHASE4	WITHDRAWN	Levothyroxine in Pregnant SLE Patients
NCT01322308	PHASE4	COMPLETED	Effect of Pioglitazone on Endothelial Function in Premenopausal Women With Uncomplicated Systemic Lupus Erythematosus
NCT01359826	PHASE4	WITHDRAWN	The Effect of Milnacipran on Fatigue and Quality of Life in Lupus Patients
NCT01597492	PHASE4	COMPLETED	A Study to Evaluate the Effect of Belimumab on Vaccine Responses in Subjects With Systemic Lupus Erythematosus (SLE)
NCT01632241	PHASE4	COMPLETED	Efficacy and Safety of Belimumab in Black Race Patients With Systemic Lupus Erythematosus (SLE)
NCT01705977	PHASE4	COMPLETED	Belimumab Assessment of Safety in SLE
NCT01753401	PHASE4	COMPLETED	Acthar for the Treatment of Systemic Lupus Erythematosus (SLE) in Patients With a History of Persistently Active Disease
NCT02270970	PHASE4	UNKNOWN	Evaluation of Belimumab Impact on a BLyS Activity Signature Test in the Absence of Confounding Polypharmacy
NCT02477150	PHASE4	COMPLETED	Safety and Immunogenicity of a Zoster Vaccine in SLE
NCT02741960	PHASE4	COMPLETED	The Effect of Metformin on Reducing Lupus Flares
NCT02779153	PHASE4	WITHDRAWN	Acthar SLE (Systemic Lupus Erythematosus)
NCT02953821	PHASE4	COMPLETED	Acthar Gel for Active Systemic Lupus Erythematosus (SLE)
NCT03042260	PHASE4	UNKNOWN	Prophylactic Trimethoprim/Sulfamethoxazole to Prevent Severe Infections in Patients With Lupus Erythematous
NCT03098823	PHASE4	COMPLETED	A Crossover Study to Compare RAYOS to IR Prednisone to Improve Fatigue and Morning Symptoms for SLE
NCT03122431	PHASE4	COMPLETED	Relevance of Monitoring Blood and Salivar Levels of Drugs Used in Rheumatic Autoimmune Diseases
NCT03543839	PHASE4	RECRUITING	Trial of Belimumab in Early Lupus
NCT04447053	PHASE4	UNKNOWN	Sequential Belimumab and T-cell Based Therapy in SLE
NCT04515719	PHASE4	COMPLETED	Efficacy and Safety of Belimumab in SLE Patients
NCT04893161	PHASE4	UNKNOWN	A Model About the Response of Belimumab in SLE
NCT04908865	PHASE4	COMPLETED	Open-label Study of Belimumab Plus Standard Therapy in Chinese Pediatric Participants With Active Systemic Lupus Erythematosus (SLE)
NCT04956484	PHASE4	COMPLETED	Belimumab In Early Systemic Lupus Erythematosus
NCT05559671	PHASE4	RECRUITING	Safety of the Herpes Zoster Subunit Vaccine in Lupus
NCT05666336	PHASE4	UNKNOWN	Multi-omics Studies on the Efficacy of Telitacicept in Chinese SLE Patients
NCT05748925	PHASE4	COMPLETED	Cardio Renal Effects of SGLT2 Inhibitors Among Lupus Nephritis Patients