MFSD6L

Summary

MFSD6L (major facilitator superfamily domain containing 6 like, HGNC:26656) is a protein-coding gene on chromosome 17p13.1, encoding Major facilitator superfamily domain-containing protein 6-like (Q8IWD5).

Predicted to be active in membrane.

Source: NCBI Gene 162387 — RefSeq curated summary.

At a glance

• Gene–disease (curated): cataract (Limited, GenCC)
• Clinical variants (ClinVar): 110 total
• MANE Select transcript: NM_152599

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26656
Approved symbol	MFSD6L
Name	major facilitator superfamily domain containing 6 like
Location	17p13.1
Locus type	gene with protein product
Status	Approved
Aliases	SLC73A2, FLJ35773
Ensembl gene	ENSG00000185156
Ensembl biotype	protein_coding
Entrez	162387

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000329805

RefSeq mRNA: 1 — MANE Select: NM_152599 NM_152599

CCDS: CCDS11146

Canonical transcript exons

ENST00000329805 — 1 exons

Exon	Start	End
ENSE00001327011	8797110	8799365

Expression profiles

Bgee: expression breadth broad, 93 present calls, max score 83.69.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0116 / max 4.9619, expressed in 4 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
164452	0.0116	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	83.69	gold quality
sperm	CL:0000019	82.85	silver quality
right testis	UBERON:0004534	82.22	gold quality
testis	UBERON:0000473	80.83	gold quality
body of pancreas	UBERON:0001150	73.54	gold quality
pancreas	UBERON:0001264	71.86	gold quality
islet of Langerhans	UBERON:0000006	71.32	gold quality
rectum	UBERON:0001052	69.47	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	69.38	gold quality
mucosa of transverse colon	UBERON:0004991	68.67	gold quality
minor salivary gland	UBERON:0001830	68.12	gold quality
left lobe of thyroid gland	UBERON:0001120	68.06	gold quality
right lobe of thyroid gland	UBERON:0001119	67.91	gold quality
thyroid gland	UBERON:0002046	66.89	gold quality
pituitary gland	UBERON:0000007	66.70	gold quality
adenohypophysis	UBERON:0002196	66.58	gold quality
saliva-secreting gland	UBERON:0001044	65.21	gold quality
mouth mucosa	UBERON:0003729	65.08	gold quality
tendon of biceps brachii	UBERON:0008188	64.14	silver quality
body of stomach	UBERON:0001161	62.15	gold quality
lower esophagus mucosa	UBERON:0035834	61.70	gold quality
duodenum	UBERON:0002114	60.84	gold quality
stomach	UBERON:0000945	60.70	gold quality
palpebral conjunctiva	UBERON:0001812	59.21	gold quality
transverse colon	UBERON:0001157	58.41	gold quality
gall bladder	UBERON:0002110	57.91	gold quality
metanephros cortex	UBERON:0010533	57.84	gold quality
adult mammalian kidney	UBERON:0000082	56.95	gold quality
oviduct epithelium	UBERON:0004804	55.41	silver quality
right uterine tube	UBERON:0001302	55.05	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-CURD-114	yes	10.86
E-ANND-3	no	1.94

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

42 targeting MFSD6L, 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-12136	99.98	72.81	5713
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548BB-5P	99.94	71.27	3509
HSA-MIR-548C-5P	99.94	71.24	3488
HSA-MIR-548D-5P	99.94	71.23	3502
HSA-MIR-548H-5P	99.94	71.24	3488
HSA-MIR-548I	99.94	71.25	3481
HSA-MIR-548J-5P	99.94	71.14	3489
HSA-MIR-548O-5P	99.94	71.24	3488
HSA-MIR-548W	99.94	71.24	3488
HSA-MIR-548Y	99.94	71.28	3514
HSA-MIR-3682-5P	99.93	67.97	1163
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-182-5P	99.87	74.03	2589
HSA-MIR-4470	99.66	69.35	1767
HSA-MIR-106A-3P	99.53	67.58	995

Literature-anchored findings (GeneRIF, showing 1)

• Deficiency of MFSD6L, an acrosome membrane protein, causes oligoasthenoteratozoospermia in humans and mice. (PMID:38909778)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	mfsd6l	ENSDARG00000014761
mus_musculus	Mfsd6l	ENSMUSG00000048329
rattus_norvegicus	Mfsd6l	ENSRNOG00000084764
drosophila_melanogaster	SP1173	FBGN0035710

Paralogs (1): MFSD6 (ENSG00000151690)

Protein

Protein identifiers

Major facilitator superfamily domain-containing protein 6-like — Q8IWD5 (reviewed: Q8IWD5)

All UniProt accessions (1): Q8IWD5

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Similarity. Belongs to the major facilitator superfamily. MFSD6 family.

RefSeq proteins (1): NP_689812* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR024989	MFS_assoc_dom	Domain
IPR036259	MFS_trans_sf	Homologous_superfamily
IPR051717	MFS_MFSD6	Family

Pfam: PF12832

UniProt features (16 total): transmembrane region 11, sequence conflict 2, chain 1, region of interest 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IWD5-F1	74.33	0.46

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 38 (showing top): FOSTER_TOLERANT_MACROPHAGE_UP, GSE13762_CTRL_VS_125_VITAMIND_DAY5_DC_UP, MEISSNER_NPC_HCP_WITH_H3_UNMETHYLATED, MEISSNER_BRAIN_HCP_WITH_H3K27ME3, MIKKELSEN_MEF_HCP_WITH_H3K27ME3, MARTENS_TRETINOIN_RESPONSE_UP, FEVR_CTNNB1_TARGETS_UP, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, MIR182_5P, MIR6792_3P, MIR4691_5P, GSE17721_PAM3CSK4_VS_GADIQUIMOD_1H_BMDC_UP, GSE17721_LPS_VS_CPG_16H_BMDC_DN, DESCARTES_MAIN_FETAL_PDE1C_ACSM3_POSITIVE_CELLS, DESCARTES_FETAL_CEREBELLUM_VASCULAR_ENDOTHELIAL_CELLS

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (1): membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	1

Protein interactions and networks

STRING

504 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MFSD6L	SLC67A2	Q8NBP5	652
MFSD6L	MFSD11	O43934	651
MFSD6L	MFSD12	Q6NUT3	625
MFSD6L	SLC68A1	Q14CX5	621
MFSD6L	ARMCX4	Q5H9R4	560
MFSD6L	SLC61A1	Q6N075	560
MFSD6L	UNC93A	Q86WB7	548
MFSD6L	CDRT15L2	A8MXV6	542
MFSD6L	CACHD1	Q5VU97	526
MFSD6L	NECAB3	Q96P71	521
MFSD6L	RNLS	Q5VYX0	519
MFSD6L	WDR87	Q6ZQQ6	519
MFSD6L	SLC75A1	Q14728	513
MFSD6L	SLC33A2	Q96ES6	509
MFSD6L	AP4S1	Q9Y587	502

IntAct

2 interactions, top by confidence:

A	B	Type	Score
MFSD6L	ESYT2	psi-mi:“MI:0914”(association)	0.350

BioGRID (31): ACSL6 (Affinity Capture-MS), AP1AR (Affinity Capture-MS), AP1B1 (Affinity Capture-MS), AP1G1 (Affinity Capture-MS), AP1M1 (Affinity Capture-MS), AP2A1 (Affinity Capture-MS), AP2A2 (Affinity Capture-MS), AP2B1 (Affinity Capture-MS), ATP7B (Affinity Capture-MS), CCDC47 (Affinity Capture-MS), CORO1B (Affinity Capture-MS), CUX1 (Affinity Capture-MS), DGKE (Affinity Capture-MS), DNAJC1 (Affinity Capture-MS), ESYT2 (Affinity Capture-MS)

ESM2 similar proteins: A0A087WVF3, A0A087WXS9, A0A087X179, A0A087X1G2, A0JN92, A4D126, A6NDS4, A6NER0, A7VL23, B9A6J9, C3VPR6, D4A693, E0CYC6, E0CYR6, P0C7X1, P0C7X4, P85118, Q01534, Q3UX83, Q4AC99, Q4KM84, Q52LC2, Q5NCI0, Q5RFJ8, Q61085, Q63764, Q6DHY5, Q6IPX1, Q6PRD1, Q7Z443, Q86UD7, Q8BVM4, Q8C262, Q8CHQ9, Q8IWD5, Q8IZP1, Q8N8A8, Q8R3N2, Q8TCY9, Q96A70

Diamond homologs: Q5XGZ9, Q68EU6, Q6DBX0, Q8IWD5, Q8R3N2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	89
Likely benign	6
Benign	15

Top pathogenic / likely-pathogenic (0)

SpliceAI

58 predictions. Top by Δscore:

Variant	Effect	Δscore
17:8798523:C:A	donor_gain	0.6800
17:8798522:T:TA	donor_gain	0.6700
17:8798502:TGACC:T	donor_gain	0.6600
17:8798505:C:CT	donor_gain	0.6400
17:8798506:C:CT	donor_gain	0.5900
17:8797856:G:C	donor_gain	0.5700
17:8798584:AGCT:A	donor_gain	0.5300
17:8798914:C:CT	acceptor_gain	0.4600
17:8798915:A:T	acceptor_gain	0.4600
17:8798107:G:A	donor_gain	0.4500
17:8798501:TTGAC:T	donor_gain	0.4500
17:8798644:TTC:T	donor_gain	0.4400
17:8797990:C:CT	acceptor_gain	0.4300
17:8798585:G:C	donor_gain	0.4300
17:8797550:T:A	acceptor_gain	0.3900
17:8797988:ACC:A	acceptor_gain	0.3800
17:8797842:T:A	donor_gain	0.3600
17:8797989:CC:C	acceptor_gain	0.3500
17:8797990:C:A	acceptor_gain	0.3200
17:8797997:GTGGT:G	acceptor_gain	0.3200
17:8798007:C:A	acceptor_gain	0.3100
17:8798322:C:CT	donor_gain	0.3100
17:8798323:C:CT	donor_gain	0.3100
17:8797633:T:TG	acceptor_gain	0.3000
17:8798114:A:T	donor_gain	0.3000
17:8797519:C:T	acceptor_gain	0.2900
17:8798676:C:CT	donor_gain	0.2800
17:8797521:A:AT	acceptor_gain	0.2700
17:8798005:GGC:G	acceptor_gain	0.2700
17:8798006:GCG:G	acceptor_gain	0.2700

AlphaMissense

3770 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:8798128:G:C	S331R	0.977
17:8798128:G:T	S331R	0.977
17:8798130:T:G	S331R	0.977
17:8797597:G:C	S508R	0.972
17:8797597:G:T	S508R	0.972
17:8797599:T:G	S508R	0.972
17:8798848:G:C	S91R	0.967
17:8798848:G:T	S91R	0.967
17:8798850:T:G	S91R	0.967
17:8797957:A:C	F388L	0.965
17:8797957:A:T	F388L	0.965
17:8797959:A:G	F388L	0.965
17:8799022:G:C	F33L	0.962
17:8799022:G:T	F33L	0.962
17:8799024:A:G	F33L	0.962
17:8797972:A:C	S383R	0.955
17:8797972:A:T	S383R	0.955
17:8797974:T:G	S383R	0.955
17:8798107:G:C	S338R	0.945
17:8798107:G:T	S338R	0.945
17:8798109:T:G	S338R	0.945
17:8797950:A:G	W391R	0.941
17:8797950:A:T	W391R	0.941
17:8798228:C:T	G298D	0.927
17:8797720:G:C	S467R	0.921
17:8797720:G:T	S467R	0.921
17:8797722:T:G	S467R	0.921
17:8798311:G:C	S270R	0.921
17:8798311:G:T	S270R	0.921
17:8798313:T:G	S270R	0.921

dbSNP variants (sampled 300 via entrez): RS1000004339 (17:8796857 C>A,T), RS1005077914 (17:8799907 G>A,C), RS1005128792 (17:8799660 C>G,T), RS1005267042 (17:8798724 C>T), RS1007716163 (17:8800364 G>T), RS1007742240 (17:8800523 T>C), RS1008445746 (17:8797259 C>T), RS1008877011 (17:8799598 G>A), RS1008931082 (17:8799401 C>A), RS1009167845 (17:8797995 C>A,T), RS1009539959 (17:8796713 G>A), RS1011227601 (17:8799957 A>T), RS1011237761 (17:8799155 G>A), RS1011829137 (17:8797998 T>C), RS1012289971 (17:8799931 T>A)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
cataract	Limited	Autosomal recessive

Mondo (1): cataract (MONDO:0005129)

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D002386	Cataract	C11.510.245

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

6 total (human), top 6 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases methylation, increases mutagenesis	2
triphenyl phosphate	affects expression	1
ethyl-p-hydroxybenzoate	increases expression	1
di-n-butylphosphoric acid	affects expression	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	increases methylation	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00273221	PHASE4	UNKNOWN	Combined Phacotube vs Phacotrabeculectomy:A Randomized Controlled Trial
NCT00312299	PHASE4	COMPLETED	Posterior Capsule Opacification Study
NCT00345046	PHASE4	COMPLETED	A Comparison of Three Different Formulations of Prednisolone Acetate 1%
NCT00347243	PHASE4	COMPLETED	Wavefront Analisys and Contrast Sensitivity of Spherical and Aspherical Intraocular Lenses
NCT00347503	PHASE4	COMPLETED	Aqueous Concentrations and PGE2 Inhibition of Ketorolac 0.4% vs. Bromfenac 0.09% in Cataract Patients
NCT00348244	PHASE4	COMPLETED	Ketorolac vs. Steroid in the Prevention of CME
NCT00348270	PHASE4	COMPLETED	Comparison of the Quality of Vision Provided by AMO Tecnis Z9000 and Alcon Laboratories MA60 Acrysof Posterior Chamber Intraocular Lenses
NCT00348582	PHASE4	COMPLETED	Acular LS vs. Nevanac in Post op Inflammation Following Cataract Surgery
NCT00348621	PHASE4	COMPLETED	A Study of Interventions to Reduce Disability From Visual Loss in Nursing Home Residents
NCT00349583	PHASE4	COMPLETED	Efficacy of Topical Cyclosporine Versus Tears for Improving Visual Outcomes Following Multifocal IOL Implantation
NCT00355446	PHASE4	COMPLETED	Bioavailability of Bimatoprost Ophthalmic Solution in Human Aqueous.
NCT00386438	PHASE4	COMPLETED	Efficacy of Honan Balloon in Intraocular Pressure Reduction Before Phacoemulsification
NCT00392275	PHASE4	COMPLETED	Penetrance of Third Generation Fluoroquinolones in Eyes With Functioning Filtering Blebs
NCT00428363	PHASE4	COMPLETED	Effect of Optic Edge Design in a Silicone Intraocular Lens on Posterior Capsule Opacification
NCT00449267	PHASE4	COMPLETED	Aurolab Hydrophobic Foldable Intraocular Lens Study
NCT00459303	PHASE4	COMPLETED	Comparison of Functional Vision Provided by AMO Tecnis Z9000 and Alcon SA60AT Acrysof
NCT00469690	PHASE4	COMPLETED	Aqueous Concentrations and PGE2 Inhibition of Ketorolac 0.4% vs. Bromfenac 0.09% in Cataract Patients: Trough Drug Effects
NCT00576485	PHASE4	COMPLETED	Spherical Aberration and Contrast Sensitivity in IOLs
NCT00612729	PHASE4	COMPLETED	Light Filters in Intraocular Lenses (IOLs) and Its Influence on Colour and Contrast Vision.
NCT00612781	PHASE4	COMPLETED	Yellow Versus White Study
NCT00630019	PHASE4	COMPLETED	Ocular Tissue Levels of 1.5% Levofloxacin Ophthalmic Solution Compared to an Active Comparator
NCT00673803	PHASE4	COMPLETED	Influence of Two Different Preloaded Intraocular Lens (IOLs) on Posterior Capsule Opacification
NCT00684138	PHASE4	COMPLETED	ACRYSOF® ReSTOR® Aspheric +3.0 D Add Power Intraocular Lens (IOL)
NCT00698724	PHASE4	COMPLETED	Comparing Optical Coherence Tomography (OCT) and Visual Acuity Outcomes in Subjects Undergoing Cataract Surgery, Who Receive Xibrom Ophthalmic Solution and Standard Presurgical Care vs. Xibrom Ophthalmic Solution Plus Prednisolone Acetate 1% and Standard Presurgical Care
NCT00710905	PHASE4	TERMINATED	Visual Function With Contralateral AcrySof® ReSTOR® Aspheric SN6AD1 and SN6AD3
NCT00710931	PHASE4	COMPLETED	Visual Function With Bilateral AcrySof® ReSTOR® Aspheric SN6AD1
NCT00711347	PHASE4	COMPLETED	Intraoperative Floppy Iris Syndrome
NCT00712244	PHASE4	COMPLETED	DisCoVisc Versus DuoVisc, Healon5 and AmVisc Plus
NCT00717080	PHASE4	COMPLETED	The Role of Capsular Tension Ring (CTR) in Anterior Capsular Contraction
NCT00719732	PHASE4	COMPLETED	Visual Function After Implantation of Bilateral AcrySof ReSTOR Aspheric +3
NCT00721253	PHASE4	COMPLETED	Visual Outcomes of Subjects Bilaterally Implanted With ReSTOR Aspheric +4 vs. Tecnis or Acri.LISA
NCT00731640	PHASE4	COMPLETED	Contralateral ReSTOR / Monofocal or Phakic Eye
NCT00732030	PHASE4	COMPLETED	Low Cylinder Toric
NCT00758199	PHASE4	COMPLETED	Determination of Optimum Duration of Treatment With Bromfenac (Xibrom) Eyedrops Following Cataract Surgery
NCT00760058	PHASE4	WITHDRAWN	Visual Outcome and Visual Quality After Bilateral Implantation of the AcrySof® IQ IOL Compared to MI60® and Tecnis® IOL
NCT00760487	PHASE4	COMPLETED	Visual Function After Implantation of Bilateral AcrySof® Toric Natural Intraocular Lens
NCT00761488	PHASE4	WITHDRAWN	Recommendations for Monitoring Clinical Experience Following Implantation of the AcrySof® Toric
NCT00763360	PHASE4	COMPLETED	To Compare the Ability of DiscoVisc® OVD to Protect the Corneal Endothelium and Maintain Anterior Chamber Space With Healon® and Amvisc® PLUS During Cataract Surgery.
NCT00786370	PHASE4	COMPLETED	Dexmedetomidine vs. Propofol for Cataract Surgery
NCT00786565	PHASE4	COMPLETED	Clinical Evaluation of a New Aspheric Intraocular Lens.