SPATA7 - spermatogenesis associated 7 Gene

Homo sapiens

Also known as HSD3; LCA3; RP94; HSD-3.1; HEL-S-296

Gene ID: 55812 | Gene type: protein coding

About SPATA7

Cytogenetic location: 14q31.3 Genomic coordinates (GRCh38): 14:88,385,657-88,470,350 (from NCBI)

This gene has 22 transcripts (splice variants), 188 orthologues and is associated with 5 phenotypes. Broad expression in testis (RPKM 22.8), thyroid (RPKM 6.0) and 17 other tissues.

Summary

This gene, originally isolated from testis, is also expressed in retina. Mutations in this gene are associated with Leber congenital amaurosis and juvenile retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]

SPATA7 Products(2)

mRNA	Protein	Name
NM_001040428.4	NP_001035518.1	spermatogenesis-associated protein 7 isoform 2
NM_018418.5	NP_060888.2	spermatogenesis-associated protein 7 isoform 1

SPATA7 Protein Structure

HSD3

0
100
200
300
400
500
599 a.a.

Protein Preferred Names

Protein Names

spermatogenesis-associated protein 7

epididymis secretory protein Li 296

Related Diseases

Diseases

Alias

Leber Congenital Amaurosis 3

LCA3	Retinitis Pigmentosa 94, Variable Age At Onset, Autosomal Recessive
Leber Congenital Amaurosis, Type 3	Leber Congenital Amaurosis Type 3

Leber Congenital Amaurosis 4

LCA4	Retinitis Pigmentosa, Juvenile
Cone-Rod Dystrophy	Leber Congenital Amaurosis, Type 4
Retinitis Pigmentosa

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

Severe Early-Childhood-Onset Retinal Dystrophy

Eosrd	Early-Onset Severe Retinal Dystrophy
Secord	Retinal Dystrophy, Early Onset Severe

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

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

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

Leber Congenital Amaurosis 14

LCA14	Retinitis Pigmentosa, Juvenile, Lrat-Related
Retinal Dystrophy, Early-Onset Severe	Retinitis Pigmentosa, Juvenile
Retinitis Pigmentosa Juvenile Lrat-Related	Severe Early-Onset Retinal Dystrophy Lrat-Related
Retinal Dystrophy, Early-Onset Severe, Lrat-Related	Leber Congenital Amaurosis, Type 14

Bardet-Biedl Syndrome 8

BBS8	Bardet-Biedl Syndrome, Type 8

Cone-Rod Dystrophy 13

CORD13

Dystrophy, Cone-Rod, Type 13

Leber Congenital Amaurosis 11

LCA11

Leber Congenital Amaurosis, Type 11

Leber Congenital Amaurosis 7

LCA7	Leber Congenital Amaurosis, Type 7

Leber Congenital Amaurosis 13

LCA13	Retinitis Pigmentosa 53
RP53	Leber Congenital Amaurosis, Type 13

Leber Congenital Amaurosis 6

LCA6	Leber Congenital Amaurosis, Type 6

Leber Congenital Amaurosis 15

LCA15

Leber Congenital Amaurosis, Type 15

Leber Congenital Amaurosis 12

LCA12

Leber Congenital Amaurosis, Type 12

Leber Congenital Amaurosis 9

LCA9	Leber Congenital Amaurosis, Type 9

Leber Congenital Amaurosis 16

LCA16

Leber Congenital Amaurosis, Type 16

Leber Congenital Amaurosis 8

LCA8	Leber Congenital Amaurosis, Type 8

Hereditary Retinal Dystrophy

Hereditary Retinal Dystrophies

Leber Congenital Amaurosis 10

LCA10

Leber Congenital Amaurosis, Type 10

Leber Congenital Amaurosis 2

LCA2	Amaurosis Congenita Of Leber Ii
Amaurosis Congenita Of Leber, Type 2	Leber Congenital Amaurosis Type Ii
Leber Congenital Amaurosis, Type 2	Leber Congenital Amaurosis, Type Ii

Keratoconus

Kc	Conical Cornea
Noninflammatory Corneal Thining	Bulging Cornea
Cornea Conical	Acquired Conus Of Cornea

Senior-Loken Syndrome 1

Senior-Loken Syndrome	Renal Dysplasia And Retinal Aplasia
Renal-Retinal Syndrome	Loken-Senior Syndrome
Juvenile Nephronophthisis With Leber Amaurosis	SLSN1
Senior-Loken Syndrome-1	Loken Senior Syndrome
Senior Loken Syndrome	Renal Dysplasia Retinal Aplasia
Nephronophthisis With Retinal Dystrophy	Renal Dysplasia-Retinal Aplasia Syndrome
Slsn

Night Blindness, Congenital Stationary, Autosomal Dominant 1

Congenital Stationary Night Blindness Autosomal Dominant 1	CSNBAD1
Rhodopsin-Related Congenital Stationary Night Blindness	Night Blindness, Congenital Stationary, Rhodopsin-Related
Blindness, Night, Stationary, Congenital, Autosomal Dominant, Type 1

Joubert Syndrome 1

Joubert Syndrome	Jbts
Cerebellooculorenal Syndrome 1	JBTS1
Joubert-Boltshauser Syndrome	Cerebelloparenchymal Disorder Iv
Cpd4	Cors1
Joubert Syndrome And Related Disorders	Jsrd
Familial Aplasia Of The Vermis	Joubert Syndrome Related Disorders
Js	Cerebellar Vermis Agenesis
Cerebelloparenchymal Disorder 4	Agenesis Of Cerebellar Vermis
Cerebello-Oculo-Renal Syndrome	Cors
Joubert-Bolthauser Syndrome	Cpd Iv
Classic Joubert Syndrome	Joubert Syndrome Type A
Pure Joubert Syndrome	Cerebello-Oculo-Renal Syndrome 1
Joubert Syndrome-1	Joubert Syndrome, Type 1
Joubert'S Syndrome

Chronic Interstitial Cystitis

Retinal Degeneration

Degeneration Of Retina

Cone Dystrophy

Retinal Cone Dystrophy	Dystrophy, Cone
Cone Dystrophy 3

Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly

Majewski Syndrome	SRTD6
Srps2a	Short Rib-Polydactyly Syndrome, Majewski Type
Polydactyly With Neonatal Chondrodystrophy, Type Ii	Short Rib-Polydactyly Syndrome Type Iia
Short Rib-Polydactyly Syndrome Type 2	Short Rib-Polydactyly Syndrome Type Ii
Short Rib-Polydactyly Syndrome, Type Ii	Srps, Type Ii
Short Rib-Polydactyly Syndrome, Type Iia	Polydactyly With Neonatal Chondrodystrophy Type 2
Srps Type 2	Short Rib-Polydactyly Syndrome Majewski Type
Polydactyly With Neonatal Chondrodystrophy Type Ii	Short Rib-Polydactyly Syndrome 2a
Srps Type Ii

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

Achromatopsia

Achm	Rod Monochromatism
Total Color Blindness	Rod Monochromacy
Monochromatism	Achromatism
Complete Or Incomplete Color Blindness	Pingelapese Blindness
Achromatopsia 1	Achromatopsia 2
Achromatopsia 3

Nephronophthisis

Medullary Cystic Disease	Medullary Cystic Kidney
Nph	Nphp
Kidney Disease, Cystic, Medullary

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

Bardet-Biedl Syndrome

Bbs	Biedl-Bardet Syndrome

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13644	SPATA7 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	SPATA7	VGNC	VGNC:35191
Macaca mulatta	SPATA7	VGNC	VGNC:77971
Mus musculus	SPATA7	MGD	MGI:2144877
Canis familiaris	SPATA7	VGNC	VGNC:46719
Rattus norvegicus	SPATA7	RGD	RGD:621010
Felis catus	SPATA7	VGNC	VGNC:65619