SFTA3 - surfactant associated 3 Gene

Also Known as SPH; SP-H; NANCI; PAHRF; SFTPH

Species: Homo sapiens

Gene Type: ncRNA
Gene ID: 253970

About SFTA3

Cytogenetic location: 14q13.3 Genomic coordinates (GRCh38): 14:36,473,288-36,519,556 (from NCBI)

This gene has 10 transcripts (splice variants). Restricted expression toward lung (RPKM 71.4).

Summary

Involved in wound healing. Located in cytoplasm and extracellular space. [provided by Alliance of Genome Resources, Apr 2022]

Biological Process GO Annotation Evidence References Source
involved in wound healing IMP
IMP: Inferred from mutant phenotype
29955092 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
24743970 GOA
located in extracellular space IDA
IDA: Inferred from direct assay
24743970 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Related Diseases

Diseases Alias
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
  • Brain-Lung-Thyroid Syndrome

  • Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress

  • CAHTP

  • Blt Syndrome

  • Choreoathetosis-Hypothyroidism-Neonatal Respiratory Distress Syndrome

  • Choreoathetosis-Hypothyroidism-Neonatal Respiratory Distress

  • Brain-Thyroid-Lung Syndrome

  • Chreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction

Chorea, Benign Hereditary
  • Benign Hereditary Chorea

  • BHC

  • Chorea, Hereditary Benign

  • Benign Familial Chorea

  • Bch

  • Hereditary Progressive Chorea Without Dementia

  • Chorea Familial Benign

  • Hereditary Chorea Without Dementia

  • Chorea Benign Hereditary

  • Bche Deficiency

  • Chorea, Hereditary, Benign

  • Chorea, Benign Familial

Thyroid Cancer, Nonmedullary, 1
  • Papillary Thyroid Carcinoma

  • Familial Nonmedullary Thyroid Cancer, Papillary

  • Nonmedullary Thyroid Carcinoma, Papillary

  • Papillary Thyroid Cancer

  • NMTC1

  • Papillary Carcinoma Of Thyroid

  • Pact

  • Thyroid Carcinoma, Papillary

  • Non-Medullary Thyroid Carcinoma

  • Thyroid Cancer, Non-Medullary, 1

  • Familial Non-Medullary Thyroid Cancer

  • Fnmtc

  • Nmtc

  • Nonmedullary Thyroid Carcinoma

  • Ptc

  • Tpc

  • Thyroid Papillary Carcinoma

  • Cancer, Thyroid, Nonmedullary

  • Cancer, Thyroid, Nonmedullary, Type 1

  • Thyroid Carcinoma, Nonmedullary 1

  • Familial Nonmedullary Thyroid Gland Carcinoma

  • Papillary Carcinoma, Diffuse Sclerosing, Thyroid Gland

Nkx2-1-Related Disorders
  • Nkx2-1-Related Disorder

Central Corneal Ulcer
Spherocytosis, Type 5
  • Hereditary Spherocytosis Type 5

  • SPH5

  • Hs5

  • Spherocytosis, Hereditary, 5

  • Hereditary Spherocytosis 5

  • Spherocytosis 5

  • Spherocytosis, Hereditary, Type 5

Spherocytosis, Type 2
  • Hereditary Spherocytosis Type 2

  • SPH2

  • Spherocytosis, Hereditary, 2

  • Hs2

  • Hereditary Spherocytosis 2

  • Spherocytosis 2

  • Spherocytosis, Type 2, Autosomal Dominant

Plasma Cell Neoplasm
  • Plasma Cell Dyscrasia

  • Paraproteinemias

  • Plasma Cell Tumour

  • Plasmacytic Tumor

  • Multiple Myeloma

  • Plasmacytoma

  • Plasma Cell Tumours

  • Plasma Cells Dyscrasia

Anisometropia
Spherocytosis, Type 3
  • Hereditary Spherocytosis Type 3

  • SPH3

  • Hs3

  • Spherocytosis, Hereditary, 3

  • Hereditary Spherocytosis 3

  • Spherocytosis 3

Regular Astigmatism
Spherocytosis, Type 1
  • Hereditary Spherocytosis Type 1

  • SPH1

  • Hs1

  • Spherocytosis, Hereditary, 1

  • Sph

  • Hs

  • Hereditary Spherocytosis 1

  • Spherocytosis 1

Myeloma, Multiple
  • Multiple Myeloma

  • Plasma Cell Myeloma

  • Kahler Disease

  • Myelomatosis

  • Medullary Plasmacytoma

  • Multiple Myeloma, Resistance To

  • Myeloma

  • Plasma Cell Dyscrasia

  • Kahler'S Disease

  • Multiple Myeloma, Susceptibility To

  • Myeloma - Multiple

  • Kahler-Bozzolo Disease

  • Plasma Cell Myelomas

  • MM

  • Plasma Cell Neoplasm

  • Primary Systemic Amyloidosis

  • Primary Amyloidosis

  • Immunoglobulin Deposition Disease

  • Plasmacytic Myeloma

  • Multiple Myelomata

  • Multiple Myeloma Nos

  • Multiple Myeloma Without Mention Of Remission

  • Monostotic Plasma Cell Myeloma

  • Mm - [Multiple Myeloma]

Cancerophobia
  • Cancer Phobia

  • Fear Of Getting Cancer

Nosophobia
Secondary Corneal Edema
Eye Disease
  • Eye Diseases

  • Abnormality Of The Eye

  • Toxoplasma Oculopathy

Refractive Error
  • Refractive Errors

Brown-Sequard Syndrome
  • Brown-Squard Syndrome

  • Hemicord Syndrome

  • Hemiparaplegic Syndrome

  • Hemispinal Cord Syndrome

  • Brown-Séquard Syndrome

Esotropia
  • Convergence In Manifest Squint

  • Crossed Eyes

  • Internal Strabismus

  • Convergent Concomitant Strabismus

  • Convergent Squint

  • Convergent Strabismus

  • Cross-Eye

Flying Phobia
  • Aerophobia

Macular Degeneration, Age-Related, 4
  • Age Related Macular Degeneration 4

  • ARMD4

  • Macular Degeneration, Age-Related, Type 4

Macular Degeneration, Age-Related, 1
  • Macular Degeneration

  • Age-Related Macular Degeneration

  • Macular Degeneration, Age-Related

  • Age Related Macular Degeneration

  • Age Related Macular Degeneration 1

  • ARMD1

  • Senile Macular Degeneration

  • Maculopathy, Age-Related, 1

  • Macular Degeneration, Age-Related, Reduced Risk Of

  • Age Related Maculopathy 1

  • Age Related Maculopathies

  • Age Related Maculopathy

  • Senile Macular Retinal Degeneration

  • Macular Degeneration Of Retina

  • Age-Related Maculopathy

  • Amd

  • Armd

  • Age-Related Maculopathy, Susceptibility To

  • Maculopathy Age-Related

  • Macular Degeneration, Age-Related, 1, Susceptibility To

  • Maculopathy, Age-Related

  • Macular Degeneration, Age-Related, Type 1

  • Macular Degeneration, Age-Related, 2

Stargardt Disease
  • Stargardt Disease 1

  • Stargardt Macular Dystrophy

  • Stargardt Disease-1

  • Juvenile Onset Macular Degeneration

  • Stargardt Macular Degeneration

  • Juvenile Macular Degeneration

  • Macular Dystrophy With Flecks, Type 1

  • Stgd

  • Fundus Flavimaculatus

  • Stargardt 1

  • Stargardts Disease

Night Blindness
  • Nyctalopia

Amblyopia
  • Lazy Eye

Achromatopsia
  • Achm

  • Rod Monochromatism

  • Total Color Blindness

  • Rod Monochromacy

  • Monochromatism

  • Achromatism

  • Complete Or Incomplete Color Blindness

  • Pingelapese Blindness

  • Achromatopsia 1

  • Achromatopsia 2

  • Achromatopsia 3

Hereditary Spherocytosis
  • Congenital Spherocytic Hemolytic Anemia

  • Spherocytic Anemia

  • Congenital Spherocytosis

  • Spherocytosis, Type 1

  • Minkowski Chauffard Syndrome

  • Hs

  • Minkowski-Chauffard Disease

  • Minkowski-Chauffard Syndrome

  • Spherocytosis Hereditary

  • Spherocytosis, Hereditary

  • Anemia, Hereditary Spherocytic Hemolytic

Cone Dystrophy
  • Retinal Cone Dystrophy

  • Dystrophy, Cone

  • Cone Dystrophy 3

Eye Degenerative Disease
Congenital Stationary Night Blindness
  • Night Blindness, Congenital Stationary

  • Congenital Essential Nyctalopia

  • Oguchi Disease

  • Blindness, Night, Stationary, Congenital

Leber Plus Disease
  • Leber Congenital Amaurosis

  • Lca

  • Leber'S Amaurosis

  • Leber'S Disease

  • Amaurosis Congenita Of Leber

  • Amaurosis Congenita Of Leber, Type 1

  • Lhon Plus Disease

  • Congenital Absence Of The Rods And Cones

  • Congenital Retinal Blindness

  • Crb

  • Congenital Amaurosis Of Retinal Origin

  • Leber'S Congenital Amaurosis

  • Leber Congenital Amaurosis 1

  • Leber'S Congenital Tapetoretinal Degeneration

  • Leber'S Congenital Tapetoretinal Dysplasia

  • Lca1

  • Leber Congenital Amaurosis Type 1

  • Retinal Blindness, Congenital

  • Amaurosis, Leber Congenital

  • Dysgenesis Neuroepithelialis Retinae

  • Hereditary Epithelial Dysplasia Of Retina

  • Hereditary Retinal Aplasia

  • Heredoretinopathia Congenitalis

  • Leber Abiotrophy

  • Leber Congenital Tapetoretinal Degeneration

  • Lebers Congenital Amaurosis

  • Optic Atrophy, Hereditary, Leber

Usher Syndrome
  • Deafness-Retinitis Pigmentosa Syndrome

  • Dystrophia Retinae Pigmentosa-Dysostosis Syndrome

  • Graefe-Usher Syndrome

  • Hallgren Syndrome

  • Usher'S Syndrome

  • Retinitis Pigmentosa-Deafness Syndrome

  • Retinitis Pigmentosa-Hearing Loss Syndrome

  • Ush

  • Usher Syndromes

Fundus Dystrophy
  • Retinal Dystrophy

  • Retinal Dystrophies

  • Dystrophy, Retinal

Strabismus
  • Strabismus, Susceptibility To

  • Strabismus, Susceptibility To, 1

  • Strabismus 1

Cone-Rod Dystrophy 2
  • Cone-Rod Dystrophy

  • CORD2

  • Cone-Rod Retinal Dystrophy

  • Rcrd2

  • Cone-Rod Retinal Dystrophy 2

  • Crd2

  • Cord

  • Crd

  • Retinal Cone-Rod Dystrophy

  • Cone-Rod Retinal Dystrophy-2

  • Retinal Cone-Rod Dystrophy 2

  • Tapetoretinal Degeneration

  • Cone-Rod Degeneration

  • Cone Rod Dystrophy

  • Dystrophy, Cone-Rod

  • Dystrophy, Cone-Rod, Type 2

  • Retinitis Pigmentosa

  • Retinitis Pigmentosa 2

  • Progressive Cone-Rod Dystrophy

Bardet-Biedl Syndrome
  • Bbs

  • Biedl-Bardet Syndrome

Retinitis Pigmentosa
  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma