FRMD5

Summary

FRMD5 (FERM domain containing 5, HGNC:28214) is a protein-coding gene on chromosome 15q15.3, encoding FERM domain-containing protein 5 (Q7Z6J6). May be involved in regulation of cell migration.

Enables integrin binding activity and protein kinase binding activity. Involved in negative regulation of cell motility; positive regulation of cell adhesion; and regulation of cell migration. Located in adherens junction. Implicated in neurodevelopmental disorder with eye movement abnormalities and ataxia.

Source: NCBI Gene 84978 — RefSeq curated summary.

At a glance

• Gene–disease (curated): neurodevelopmental disorder with eye movement abnormalities and ataxia (Strong, GenCC)
• GWAS associations: 13
• Clinical variants (ClinVar): 124 total — 6 pathogenic, 3 likely-pathogenic
• Phenotypes (HPO): 25
• MANE Select transcript: NM_032892

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28214
Approved symbol	FRMD5
Name	FERM domain containing 5
Location	15q15.3
Locus type	gene with protein product
Status	Approved
Aliases	MGC14161
Ensembl gene	ENSG00000171877
Ensembl biotype	protein_coding
OMIM	616309
Entrez	84978

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 7 protein_coding, 3 nonsense_mediated_decay, 2 retained_intron

ENST00000402883, ENST00000417257, ENST00000421674, ENST00000449926, ENST00000451277, ENST00000458630, ENST00000473965, ENST00000479319, ENST00000484674, ENST00000558108, ENST00000618556, ENST00000636859

RefSeq mRNA: 7 — MANE Select: NM_032892 NM_001286490, NM_001286491, NM_001322949, NM_001322950, NM_001322951, NM_001411124, NM_032892

CCDS: CCDS10107, CCDS73715, CCDS73716, CCDS91990

Canonical transcript exons

ENST00000417257 — 14 exons

Exon	Start	End
ENSE00001612743	44194953	44195271
ENSE00001806275	43870764	43874462
ENSE00003461535	43902175	43902262
ENSE00003472649	43905828	43905951
ENSE00003479059	43924205	43924309
ENSE00003499525	43919767	43919809
ENSE00003512993	43888809	43888872
ENSE00003517767	43909882	43909979
ENSE00003519227	43888175	43888266
ENSE00003539273	43919459	43919537
ENSE00003655682	43884727	43884795
ENSE00003671226	43883703	43883809
ENSE00003677465	43891981	43892069
ENSE00003682264	43885681	43885755

Expression profiles

Bgee: expression breadth ubiquitous, 191 present calls, max score 93.79.

FANTOM5 (CAGE): breadth broad, TPM avg 2.8072 / max 99.8135, expressed in 799 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter ID	TPM avg	Samples expressed
149644	2.4807	755
149643	0.1414	63
149645	0.0829	20
149636	0.0352	10
149633	0.0204	9
149631	0.0169	8
149632	0.0122	8
149634	0.0063	3
149635	0.0062	3
149637	0.0048	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cardiac muscle of right atrium	UBERON:0003379	93.79	gold quality
left ventricle myocardium	UBERON:0006566	93.46	gold quality
corpus callosum	UBERON:0002336	91.94	gold quality
adrenal tissue	UBERON:0018303	91.64	gold quality
Brodmann (1909) area 23	UBERON:0013554	90.05	gold quality
Brodmann (1909) area 46	UBERON:0006483	89.31	gold quality
secondary oocyte	CL:0000655	89.16	gold quality
postcentral gyrus	UBERON:0002581	88.45	gold quality
primary visual cortex	UBERON:0002436	88.35	gold quality
apex of heart	UBERON:0002098	87.96	gold quality
myocardium	UBERON:0002349	87.71	gold quality
heart left ventricle	UBERON:0002084	87.09	gold quality
inferior vagus X ganglion	UBERON:0005363	86.98	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	86.92	gold quality
occipital lobe	UBERON:0002021	86.88	gold quality
parietal lobe	UBERON:0001872	86.81	gold quality
spinal cord	UBERON:0002240	86.81	gold quality
cardiac ventricle	UBERON:0002082	86.72	gold quality
endothelial cell	CL:0000115	86.04	gold quality
superior frontal gyrus	UBERON:0002661	85.81	gold quality
cardiac atrium	UBERON:0002081	85.32	gold quality
right atrium auricular region	UBERON:0006631	85.29	gold quality
subthalamic nucleus	UBERON:0001906	85.09	gold quality
Ammon’s horn	UBERON:0001954	84.10	gold quality
putamen	UBERON:0001874	83.93	gold quality
dorsal plus ventral thalamus	UBERON:0001897	83.92	gold quality
cerebellar vermis	UBERON:0004720	83.89	gold quality
entorhinal cortex	UBERON:0002728	83.82	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.77	gold quality
substantia nigra	UBERON:0002038	83.53	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-GEOD-180759	yes	3892.51
E-CURD-6	yes	470.56
E-HCAD-35	yes	108.88
E-HCAD-25	yes	56.03
E-ANND-3	no	4.76

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): TP53

miRNA regulators (miRDB)

195 targeting FRMD5, 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-1252-5P	100.00	69.80	2774
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3120-5P	100.00	65.56	965
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-10401-5P	99.99	65.79	948
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-7152-3P	99.97	67.47	849
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-185-3P	99.95	67.01	1743

Literature-anchored findings (GeneRIF, showing 8)

• FRMD5 may play a role in p120-catenin-based cell-cell contact and is involved in the regulation of tumor progression (PMID:22846708)
• FRMD5 regulates tumor cell motility via a dual pathway involving FRMD5 binding to integrin beta5 tail and to ROCK1 (PMID:25448675)
• Data show that FERM domain-containing protein 5 (FRMD5) is regulated by both beta-catenin and transcription factor 7-Like 2 protein (TCF7L2) in colon cancer cells. (PMID:28117551)
• We conclude that integrative variants, haplotypes and diplotypes of the CAPN3 rs4344713 and FRMD5 rs524908, as well as DBP and BMI are associated with serum lipid variables in the Jing and Han populations. (PMID:28332615)
• High FRMD5 expression is associated with hepatocarcinogenesis. (PMID:30583072)
• Analysis of the Role of FRMD5 in the Biology of Papillary Thyroid Carcinoma. (PMID:34201607)
• De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement. (PMID:36206744)
• De novo FRMD5 Missense Variants in Patients with Childhood-Onset Ataxia, Prominent Nystagmus, and Seizures. (PMID:38576116)

Cross-species orthologs

11 orthologs

Organism	Symbol	Gene ID
danio_rerio	frmd5a	ENSDARG00000075942
danio_rerio	frmd5b	ENSDARG00000079622
mus_musculus	Frmd5	ENSMUSG00000027238
rattus_norvegicus	Frmd5	ENSRNOG00000016189
drosophila_melanogaster	yrt	FBGN0004049
drosophila_melanogaster	cora	FBGN0010434
drosophila_melanogaster	Frmd5	FBGN0032225
caenorhabditis_elegans	erm-1	WBGENE00001333
caenorhabditis_elegans	frm-1	WBGENE00001488
caenorhabditis_elegans		WBGENE00001489
caenorhabditis_elegans	frm-4	WBGENE00001491

Paralogs (10): MYLIP (ENSG00000007944), EPB41L2 (ENSG00000079819), EPB41L3 (ENSG00000082397), EPB41L1 (ENSG00000088367), EPB41L4B (ENSG00000095203), EPB41L5 (ENSG00000115109), EPB41L4A (ENSG00000129595), FRMD6 (ENSG00000139926), EPB41 (ENSG00000159023), FRMD3 (ENSG00000172159)

Protein

Protein identifiers

FERM domain-containing protein 5 — Q7Z6J6 (reviewed: Q7Z6J6)

All UniProt accessions (10): Q7Z6J6, A0A087WVP2, A0A1B0GV18, B5MC67, F8WCI0, F8WEJ8, H0Y5N1, H0YKW6, H0YNI9, H7C282

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in regulation of cell migration. May regulate cell-matrix interactions via its interaction with ITGB5 and modifying ITGB5 cytoplasmic tail interactions such as with FERMT2 and TLN1. May regulate ROCK1 kinase activity possibly involved in regulation of actin stress fiber formation.

Subunit / interactions. Interacts with CTNND1. Interacts with ITGB5 (via cytoplasmic domain) and ROCK1.

Subcellular location. Membrane. Cell junction. Adherens junction.

Disease relevance. Neurodevelopmental disorder with eye movement abnormalities and ataxia (NEDEMA) [MIM:620094] An autosomal dominant disorder apparent from infancy and characterized by global developmental delay, intellectual disability, speech difficulties, ataxia, seizures, and abnormalities of eye movement. The disease is caused by variants affecting the gene represented in this entry.

Isoforms (2)

UniProt ID	Names	Canonical?
Q7Z6J6-1	1	yes
Q7Z6J6-2	2

RefSeq proteins (7): NP_001273419, NP_001273420, NP_001309878, NP_001309879, NP_001309880, NP_001398053, NP_116281* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000299	FERM_domain	Domain
IPR000798	Ez/rad/moesin-like	Family
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR014352	FERM/acyl-CoA-bd_prot_sf	Homologous_superfamily
IPR014847	FA	Domain
IPR018979	FERM_N	Domain
IPR018980	FERM_PH-like_C	Domain
IPR019747	FERM_CS	Conserved_site
IPR019748	FERM_central	Domain
IPR019749	Band_41_domain	Domain
IPR029071	Ubiquitin-like_domsf	Homologous_superfamily
IPR035963	FERM_2	Homologous_superfamily

Pfam: PF00373, PF08736, PF09379, PF09380

UniProt features (16 total): sequence variant 7, region of interest 3, chain 1, transmembrane region 1, domain 1, compositionally biased region 1, modified residue 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7Z6J6-F1	75.79	0.48

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 (1): 375

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 266 (showing top): FXR_IR1_Q6, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, AAGTCCA_MIR422B_MIR422A, AREB6_03, CAGCTG_AP4_Q5, GOBP_POSITIVE_REGULATION_OF_CELL_ADHESION, MARTORIATI_MDM4_TARGETS_NEUROEPITHELIUM_DN, AP1_Q4_01, TGCTGAY_UNKNOWN, GATA1_01, GOBP_ACTOMYOSIN_STRUCTURE_ORGANIZATION, TGANTCA_AP1_C, AACTTT_UNKNOWN, HNF1_C, GOMF_SIGNALING_RECEPTOR_BINDING

GO Biological Process (4): regulation of cell migration (GO:0030334), actomyosin structure organization (GO:0031032), positive regulation of cell adhesion (GO:0045785), negative regulation of cell motility (GO:2000146)

GO Molecular Function (4): integrin binding (GO:0005178), cytoskeletal protein binding (GO:0008092), protein kinase binding (GO:0019901), protein binding (GO:0005515)

GO Cellular Component (4): cytoskeleton (GO:0005856), adherens junction (GO:0005912), membrane (GO:0016020), anchoring junction (GO:0070161)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of cell motility	2
cell migration	1
actin cytoskeleton organization	1
cell adhesion	1
regulation of cell adhesion	1
positive regulation of cellular process	1
negative regulation of locomotion	1
negative regulation of cellular process	1
cell motility	1
signaling receptor binding	1
protein-containing complex binding	1
cell adhesion molecule binding	1
protein binding	1
kinase binding	1
binding	1
intracellular membraneless organelle	1
cell-cell junction	1
cellular anatomical structure	1
cell junction	1

Protein interactions and networks

STRING

532 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FRMD5	ITGB5	P18084	529
FRMD5	CTNND1	O60716	508
FRMD5	ROCK1	Q13464	506
FRMD5	ZNF324B	Q6AW86	480
FRMD5	OR13C9	Q8NGT0	476
FRMD5	PLN	P26678	462
FRMD5	YIPF4	Q9BSR8	458
FRMD5	FBXO10	Q9UK96	453
FRMD5	STRN3	Q13033	410
FRMD5	WDR76	Q9H967	406
FRMD5	SERPINA11	Q86U17	378
FRMD5	CDH20	Q9HBT6	368
FRMD5	CELSR2	Q9HCU4	356
FRMD5	SNRPN	P14648	353
FRMD5	UBE3A	P78355	352

IntAct

86 interactions, top by confidence:

A	B	Type	Score
ABCD4	ABCD4	psi-mi:“MI:0914”(association)	0.640
FAM234B	ABCD4	psi-mi:“MI:0914”(association)	0.620
PDGFRB	PIK3R2	psi-mi:“MI:0914”(association)	0.610
FRMD5	ITGB5	psi-mi:“MI:0915”(physical association)	0.600
ITGB5	FRMD5	psi-mi:“MI:0915”(physical association)	0.600
ITGB5	FRMD5	psi-mi:“MI:0407”(direct interaction)	0.600
FRMD5	CTNND1	psi-mi:“MI:0403”(colocalization)	0.540
CTNND1	FRMD5	psi-mi:“MI:0915”(physical association)	0.540
FRMD5	CTNND1	psi-mi:“MI:0914”(association)	0.540
PCDHAC2	TMEM223	psi-mi:“MI:0914”(association)	0.530
FRMD5	FAM234B	psi-mi:“MI:0914”(association)	0.530
SPINT2	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
ENPEP	BNIP3	psi-mi:“MI:0914”(association)	0.530
HSPB8	VWA8	psi-mi:“MI:0914”(association)	0.530
ZNRD2	MYO9A	psi-mi:“MI:0914”(association)	0.530
PTGES3	AIP	psi-mi:“MI:0914”(association)	0.530
CSGALNACT2	TPST1	psi-mi:“MI:0914”(association)	0.530
ZNRD2	CCDC85C	psi-mi:“MI:0914”(association)	0.530
UNC93B1	GPR89A	psi-mi:“MI:0914”(association)	0.530
ROCK1	FRMD5	psi-mi:“MI:0915”(physical association)	0.520
FRMD5	ROCK1	psi-mi:“MI:0915”(physical association)	0.520
	FAM171A2	psi-mi:“MI:0914”(association)	0.350
TTMP	TMEM223	psi-mi:“MI:0914”(association)	0.350
LDLRAD1	GXYLT2	psi-mi:“MI:0914”(association)	0.350
CLEC2D	TMEM120B	psi-mi:“MI:0914”(association)	0.350
CD6	CIBAR1	psi-mi:“MI:0914”(association)	0.350

BioGRID (84): FRMD5 (Affinity Capture-MS), FRMD5 (Affinity Capture-MS), YWHAB (Affinity Capture-MS), YWHAH (Affinity Capture-MS), YWHAG (Affinity Capture-MS), YWHAQ (Affinity Capture-MS), BAG5 (Affinity Capture-MS), CACYBP (Affinity Capture-MS), DNAJA1 (Affinity Capture-MS), KIAA1467 (Affinity Capture-MS), PRKAR1A (Affinity Capture-MS), NRCAM (Affinity Capture-MS), RCN2 (Affinity Capture-MS), RPS17 (Affinity Capture-MS), TUBA1C (Affinity Capture-MS)

ESM2 similar proteins: A0A2R8QFQ6, A0A2R8RWN9, D3Z7P3, E9PV86, G3MWR8, O54865, O60907, O89050, O94925, P13264, P16068, P20595, P58058, Q02153, Q08211, Q12800, Q13042, Q14722, Q28141, Q28D01, Q3MHJ2, Q3ULA2, Q4R8H1, Q4ZHR9, Q5R874, Q5RB35, Q5SP67, Q5SRY7, Q5ZHN3, Q6DN14, Q7RTP6, Q7T2U9, Q7Z6J6, Q8BTG7, Q8C6G8, Q8CJ19, Q8K4Q0, Q8N122, Q8N2K0, Q8R349

Diamond homologs: A2A2Y4, A2AD83, A2ALK8, B2RYE5, F1LYQ8, F1P065, F8VPU2, O43491, O57457, O70318, O94887, P11171, P11434, P26045, P28191, P29074, P48193, P52963, Q0P4Q4, Q54K81, Q58CU2, Q5FVG2, Q5R803, Q5RAB8, Q6P5H6, Q6Q7P4, Q6ZUT3, Q7Z6J6, Q8BGS1, Q8BHD4, Q91VS8, Q9H329, Q9H4G0, Q9HCM4, Q9HCS5, Q9JMC8, Q9MYU8, Q9N179, Q9V8R9, Q9WTP0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	6
Likely pathogenic	3
Uncertain significance	89
Likely benign	13
Benign	2

Top pathogenic / likely-pathogenic (9)

Variant ID	HGVS	Classification
1712501	NM_032892.5(FRMD5):c.1051A>G (p.Ser351Gly)	Pathogenic
1712504	NM_032892.5(FRMD5):c.1060T>C (p.Ser354Pro)	Pathogenic
1799545	NC_000015.10:g.(?43890333)(43897714_?)del	Pathogenic
1799546	NC_000015.10:g.(?43890333)(43893072_?)del	Pathogenic
1800456	NC_000015.10:g.(?43890333)(43940887_?)del	Pathogenic
4813880	NM_032892.5(FRMD5):c.1135+1G>A	Pathogenic
2501687	NM_032892.5(FRMD5):c.1052G>A (p.Ser351Asn)	Likely pathogenic
3772096	NM_032892.5(FRMD5):c.947G>T (p.Arg316Leu)	Likely pathogenic
4531500	NM_032892.5(FRMD5):c.1124C>T (p.Ser375Phe)	Likely pathogenic

SpliceAI

4457 predictions. Top by Δscore:

Variant	Effect	Δscore
15:43883805:CTGCT:C	acceptor_gain	1.0000
15:43883806:TGCT:T	acceptor_gain	1.0000
15:43883808:CT:C	acceptor_gain	1.0000
15:43883810:C:CC	acceptor_gain	1.0000
15:43884805:G:C	acceptor_gain	1.0000
15:43884805:G:GC	acceptor_gain	1.0000
15:43884807:G:C	acceptor_gain	1.0000
15:43888173:A:AC	donor_gain	1.0000
15:43888174:C:CC	donor_gain	1.0000
15:43902260:CCA:C	acceptor_gain	1.0000
15:43902261:CA:C	acceptor_gain	1.0000
15:43902261:CAC:C	acceptor_gain	1.0000
15:43902263:C:CC	acceptor_gain	1.0000
15:43905966:G:C	acceptor_gain	1.0000
15:43905966:G:GC	acceptor_gain	1.0000
15:43909876:CATTA:C	donor_loss	1.0000
15:43909877:ATTAC:A	donor_loss	1.0000
15:43909878:TTA:T	donor_loss	1.0000
15:43909879:TA:T	donor_loss	1.0000
15:43909881:C:CA	donor_loss	1.0000
15:43909977:TAC:T	acceptor_gain	1.0000
15:43909980:C:CA	acceptor_loss	1.0000
15:43909981:T:G	acceptor_loss	1.0000
15:43919533:CTGGG:C	acceptor_gain	1.0000
15:43919534:TGGG:T	acceptor_gain	1.0000
15:43919534:TGGGC:T	acceptor_loss	1.0000
15:43919535:GGG:G	acceptor_gain	1.0000
15:43919536:GG:G	acceptor_gain	1.0000
15:43919538:C:CC	acceptor_gain	1.0000
15:43919765:A:AC	donor_gain	1.0000

AlphaMissense

3750 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:43888199:C:T	G287E	1.000
15:43888209:A:G	W284R	1.000
15:43888209:A:T	W284R	1.000
15:43888211:A:G	L283P	1.000
15:43888216:C:A	K281N	1.000
15:43888216:C:G	K281N	1.000
15:43888219:A:C	C280W	1.000
15:43888220:C:T	C280Y	1.000
15:43888848:A:C	F251L	1.000
15:43888848:A:T	F251L	1.000
15:43888850:A:G	F251L	1.000
15:43891982:A:G	W243R	1.000
15:43891982:A:T	W243R	1.000
15:43892026:C:T	G228E	1.000
15:43902178:A:C	C212W	1.000
15:43902186:G:C	H210D	1.000
15:43902197:C:T	G206E	1.000
15:43905844:G:C	H179D	1.000
15:43909882:C:G	A143P	1.000
15:43909887:A:G	L141P	1.000
15:43909932:A:G	L126P	1.000
15:43909938:C:T	G124D	1.000
15:43909942:G:C	H123D	1.000
15:43909947:A:G	L121P	1.000
15:43909950:T:A	D120V	1.000
15:43909950:T:C	D120G	1.000
15:43909950:T:G	D120A	1.000
15:43909951:C:G	D120H	1.000
15:43909953:C:A	R119M	1.000
15:43909955:T:A	K118N	1.000

dbSNP variants (sampled 300 via entrez): RS1000003511 (15:43978275 T>G), RS1000010283 (15:44037963 T>A,C,G), RS1000012662 (15:43975259 C>T), RS1000018425 (15:43884296 A>G), RS1000028443 (15:43884594 T>C), RS1000102950 (15:44155863 G>T), RS1000105002 (15:44057820 G>C), RS1000110446 (15:44167968 T>G), RS1000111742 (15:43972063 T>C), RS1000113989 (15:43927620 C>T), RS1000118426 (15:43907776 G>A), RS1000132601 (15:43984850 G>A), RS1000147750 (15:44147046 G>A), RS1000167939 (15:43940686 A>G), RS1000191379 (15:44123429 G>A,C,T)

Disease associations

OMIM: gene MIM:616309 | disease phenotypes: MIM:620094, MIM:603720

GenCC curated gene-disease

Disease	Classification	Inheritance
neurodevelopmental disorder with eye movement abnormalities and ataxia	Strong	Autosomal dominant

Mondo (2): neurodevelopmental disorder with eye movement abnormalities and ataxia (MONDO:0859305), autosomal recessive nonsyndromic hearing loss 16 (MONDO:0011364)

Orphanet (1): Rare autosomal recessive non-syndromic sensorineural deafness type DFNB (Orphanet:90636)

HPO phenotypes

25 total (25 of 25 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000020	Urinary incontinence
HP:0000486	Strabismus
HP:0000565	Esotropia
HP:0000639	Nystagmus
HP:0000739	Anxiety
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001251	Ataxia
HP:0001252	Hypotonia
HP:0001257	Spasticity
HP:0001263	Global developmental delay
HP:0001270	Motor delay
HP:0001302	Pachygyria
HP:0001332	Dystonia
HP:0001336	Myoclonus
HP:0001631	Atrial septal defect
HP:0002019	Constipation
HP:0002076	Migraine
HP:0002188	Delayed CNS myelination
HP:0003593	Infantile onset
HP:0003623	Neonatal onset
HP:0010522	Dyslexia
HP:0010543	Opsoclonus
HP:0011968	Feeding difficulties

GWAS associations

13 associations (top):

Study	Trait	p-value
GCST000758_29	Triglycerides	2.000000e-11
GCST001699_2	Serum albumin levels	2.000000e-08
GCST002216_26	Triglycerides	2.000000e-09
GCST002897_24	Triglycerides	3.000000e-08
GCST004237_19	Triglyceride levels	2.000000e-08
GCST004963_11	Lipoprotein phospholipase A2 activity in cardiovascular disease	7.000000e-13
GCST004963_12	Lipoprotein phospholipase A2 activity in cardiovascular disease	6.000000e-13
GCST005012_40	Urinary tract infection frequency	2.000000e-08
GCST006616_7	Uterine fibroid number (single vs multiple)	2.000000e-07
GCST010083_52	Hemoglobin levels	8.000000e-13
GCST010083_57	Hemoglobin levels	1.000000e-18
GCST90000025_211	Appendicular lean mass	3.000000e-13
GCST90011900_115	Serum alkaline phosphatase levels	6.000000e-09

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004530	triglyceride measurement
EFO:0004746	lipoprotein-associated phospholipase A(2) measurement
EFO:0009410	uterine fibroid measurement
EFO:0004509	hemoglobin measurement
EFO:0004980	appendicular lean mass
EFO:0004533	alkaline phosphatase measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C566339	Deafness, Autosomal Recessive 16 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

44 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, increases expression, increases methylation	5
trichostatin A	affects cotreatment, decreases expression	3
Acetaminophen	decreases expression, increases expression	3
Benzo(a)pyrene	affects expression, decreases expression	3
Aflatoxin B1	increases expression, increases methylation	3
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Particulate Matter	decreases expression, decreases reaction	2
methylmercuric chloride	decreases expression	1
propionaldehyde	increases expression	1
terbufos	increases methylation	1
tris(2-butoxyethyl) phosphate	affects expression	1
butyraldehyde	increases expression	1
potassium chromate(VI)	decreases expression	1
rutecarpine	decreases expression	1
nickel sulfate	decreases expression	1
pentanal	increases expression	1
perfluorooctane sulfonic acid	increases expression	1
cylindrospermopsin	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	increases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, decreases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	decreases expression, decreases reaction	1
dorsomorphin	affects cotreatment, decreases expression	1
MRK 003	decreases expression	1
Irinotecan	decreases expression	1
Temozolomide	increases expression	1
Sunitinib	decreases expression	1
Aldehydes	increases expression	1
Amiodarone	increases expression	1
Arsenic	affects methylation	1

Clinical trials (associated diseases)

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