{ "url": "https://dantelabs.com/cs/genes/slc4a11", "gene": { "slug": "slc4a11", "symbol": "SLC4A11", "name": "solute carrier family 4 member 11", "hgnc": "HGNC:16438", "summary": null, "location": "20p13", "locusType": "gene with protein product", "aliases": [ "dJ794I6.2", "BTR1", "NaBC1", "FECD4" ], "previousSymbols": [ "CHED2", "CDPD1" ], "ensemblId": "ENSG00000088836", "entrezId": 83959, "omim": [ "610206" ], "uniprot": [ "Q8NBS3" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "20", "start": 3227422, "end": 3239190, "strand": "-", "ensemblTranscript": "ENST00000642402.1", "refseqTranscript": "NM_001174089.2", "ensemblProtein": "ENSP00000493503.1", "refseqProtein": "NP_001167560.1", "exons": [ { "start": 3227422, "end": 3227856 }, { "start": 3228259, "end": 3228428 }, { "start": 3228512, "end": 3228707 }, { "start": 3228838, "end": 3229011 }, { "start": 3229095, "end": 3229263 }, { "start": 3229346, "end": 3229452 }, { "start": 3229524, "end": 3229776 }, { "start": 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"protein_coding", "start": 3042814, "end": 3045747, "strand": "+", "slug": "gnrh2" }, { "symbol": "MRPS26", "ensemblId": "ENSG00000125901", "biotype": "protein_coding", "start": 3046016, "end": 3048254, "strand": "+", "slug": "mrps26" }, { "symbol": "OXT", "ensemblId": "ENSG00000101405", "biotype": "protein_coding", "start": 3071476, "end": 3072517, "strand": "+", "slug": "oxt" }, { "symbol": "AVP", "ensemblId": "ENSG00000101200", "biotype": "protein_coding", "start": 3082556, "end": 3084724, "strand": "-", "slug": "avp" }, { "symbol": "UBOX5", "ensemblId": "ENSG00000185019", "biotype": "protein_coding", "start": 3107573, "end": 3160196, "strand": "-", "slug": "ubox5" }, { "symbol": "FASTKD5", "ensemblId": "ENSG00000215251", "biotype": "protein_coding", "start": 3146519, "end": 3160196, "strand": "-", "slug": "fastkd5" }, { "symbol": "LZTS3", "ensemblId": "ENSG00000088899", "biotype": "protein_coding", "start": 3162617, "end": 3174504, "strand": "-", "slug": "lzts3" }, { "symbol": "DDRGK1", "ensemblId": "ENSG00000198171", "biotype": "protein_coding", "start": 3188734, "end": 3204700, "strand": "-", "slug": "ddrgk1" }, { "symbol": "ITPA", "ensemblId": "ENSG00000125877", "biotype": "protein_coding", "start": 3208868, "end": 3227446, "strand": "+", "slug": "itpa" }, { "symbol": "DNAAF9", "ensemblId": "ENSG00000088854", "biotype": "protein_coding", "start": 3249295, "end": 3407942, "strand": "-", "slug": "dnaaf9" }, { "symbol": "ATRN", "ensemblId": "ENSG00000088812", "biotype": "protein_coding", "start": 3470965, "end": 3651118, "strand": "+", "slug": "atrn" }, { "symbol": "GFRA4", "ensemblId": "ENSG00000125861", "biotype": "protein_coding", "start": 3659248, "end": 3663483, "strand": "-", "slug": "gfra4" }, { "symbol": "ADAM33", "ensemblId": "ENSG00000149451", "biotype": "protein_coding", "start": 3667962, "end": 3682249, "strand": "-", "slug": "adam33" }, { "symbol": "SIGLEC1", "ensemblId": "ENSG00000088827", "biotype": "protein_coding", "start": 3686970, "end": 3712647, "strand": "-", "slug": "siglec1" }, { "symbol": "HSPA12B", "ensemblId": "ENSG00000132622", "biotype": "protein_coding", "start": 3730248, "end": 3753553, "strand": "+", "slug": "hspa12b" } ], "truncated": false }, "reports": [ { "slug": "hereditary-corneal-dystrophies", "name": "Hereditary Corneal Dystrophies", "diseases": [ { "mondoId": "MONDO:0018102", "name": "Corneal Dystrophy", "genes": 19, "inheritance": null, "description": "A group of inherited conditions affecting one or more layers of the cornea, including Fuchs endothelial dystrophy (often linked to a TCF4 repeat expansion), TGFBI-related granular and lattice dystrophies, and rarer types caused by genes such as SLC4A11, COL8A2, ZEB1 and CHST6.", "management": "Carriers of TGFBI variants are generally advised to avoid laser refractive surgery (LASIK or PRK), which can make deposits worse; corneal transplant can restore vision in advanced disease.", "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/cs/conditions/hereditary-corneal-dystrophies" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-corneal-endothelium-morphology", "name": "Abnormal corneal endothelium morphology", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-corneal-endothelium-morphology" }, { "slug": "abnormal-descemet-membrane-morphology", "name": "Abnormal Descemet membrane morphology", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-descemet-membrane-morphology" }, { "slug": "blurred-vision", "name": "Blurred vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/blurred-vision" }, { "slug": "corneal-dystrophy", "name": "Corneal dystrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/corneal-dystrophy" }, { "slug": "corneal-guttata", "name": "Corneal guttata", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/corneal-guttata" }, { "slug": "corneal-opacity", "name": "Corneal opacity", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/corneal-opacity" }, { "slug": "corneal-stromal-edema", "name": "Corneal stromal edema", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/corneal-stromal-edema" }, { "slug": "reduced-visual-acuity", "name": "Decreased clarity of vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/reduced-visual-acuity" }, { "slug": "nyctalopia", "name": "Difficulties with night vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/nyctalopia" }, { "slug": "eye-movement-induced-pain", "name": "Eye movement-induced pain", "systems": [ "abnormality-of-the-eye", "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/eye-movement-induced-pain" }, { "slug": "edema", "name": "Fluid retention", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/edema" }, { "slug": "increased-corneal-thickness", "name": "Increased corneal thickness", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/increased-corneal-thickness" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "irregular-astigmatism", "name": "Irregular astigmatism", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/irregular-astigmatism" }, { "slug": "opacification-of-the-corneal-stroma", "name": "Opacification of the corneal stroma", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/opacification-of-the-corneal-stroma" }, { "slug": "reduced-number-of-corneal-endothelial-cells", "name": "Reduced number of corneal endothelial cells", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/reduced-number-of-corneal-endothelial-cells" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "visual-impairment", "name": "Visual impairment", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/visual-impairment" }, { "slug": "visual-loss", "name": "Visual loss", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/visual-loss" } ], "related": [ { "slug": "chst6", "symbol": "CHST6", "name": "carbohydrate sulfotransferase 6", "shared": 1, "url": "https://dantelabs.com/cs/genes/chst6" }, { "slug": "col17a1", "symbol": "COL17A1", "name": "collagen type XVII alpha 1 chain", "shared": 1, "url": "https://dantelabs.com/cs/genes/col17a1" }, { "slug": "col8a2", "symbol": "COL8A2", "name": "collagen type VIII alpha 2 chain", "shared": 1, "url": "https://dantelabs.com/cs/genes/col8a2" }, { "slug": "dcn", "symbol": "DCN", "name": "decorin", "shared": 1, "url": "https://dantelabs.com/cs/genes/dcn" }, { "slug": "grhl2", "symbol": "GRHL2", "name": "grainyhead like transcription factor 2", "shared": 1, "url": "https://dantelabs.com/cs/genes/grhl2" }, { "slug": "gsn", "symbol": "GSN", "name": "gelsolin", "shared": 1, "url": "https://dantelabs.com/cs/genes/gsn" }, { "slug": "krt12", "symbol": "KRT12", "name": "keratin 12", "shared": 1, "url": "https://dantelabs.com/cs/genes/krt12" }, { "slug": "krt3", "symbol": "KRT3", "name": "keratin 3", "shared": 1, "url": "https://dantelabs.com/cs/genes/krt3" }, { "slug": "mcoln1", "symbol": "MCOLN1", "name": "mucolipin TRP cation channel 1", "shared": 1, "url": "https://dantelabs.com/cs/genes/mcoln1" }, { "slug": "nlrp1", "symbol": "NLRP1", "name": "NLR family pyrin domain containing 1", "shared": 1, "url": "https://dantelabs.com/cs/genes/nlrp1" }, { "slug": "ovol2", "symbol": "OVOL2", "name": "ovo like zinc finger 2", "shared": 1, "url": "https://dantelabs.com/cs/genes/ovol2" }, { "slug": "pikfyve", "symbol": "PIKFYVE", "name": "phosphoinositide kinase, FYVE-type zinc finger containing", "shared": 1, "url": "https://dantelabs.com/cs/genes/pikfyve" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }