SDR9C7 - short chain dehydrogenase/reductase family 9C member 7 Gene

Also Known as RDHS; SDRO; SDR-O; ARCI13

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 121214

About SDR9C7

Cytogenetic location: 12q13.3 Genomic coordinates (GRCh38): 12:56,923,133-56,934,408 (from NCBI)

This gene has 1 transcript (splice variant), 95 orthologues, 25 paralogues and is associated with 2 phenotypes. Biased expression in skin (RPKM 17.6) and esophagus (RPKM 5.2).

Summary

This gene encodes a protein with similarity to the short-chain dehydrogenase/reductase (SDR) family but has not been shown to have retinoid or dehydrogenase activities. [provided by RefSeq, Apr 2010]

SDR9C7 Products (1)

mRNA Protein Name
NM_148897.3 NP_683695.1 short-chain dehydrogenase/reductase family 9C member 7
Molecular Function GO Annotation Evidence References Source
enables all-trans-retinol dehydrogenase (NAD+) activity IDA
IDA: Inferred from direct assay
19703561 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

SDR9C7 Protein Structure

adh_short

adh_short: short chain dehydrogenase (27 - 190)

  • 0
  • 100
  • 200
  • 313 a.a.
Protein Preferred Names Protein Names

short-chain dehydrogenase/reductase family 9C member 7

  • RDH-S

Related Diseases

Diseases Alias
Ichthyosis, Congenital, Autosomal Recessive 13
  • ARCI13

  • Autosomal Recessive Congenital Ichthyosis 13

Autosomal Recessive Congenital Ichthyosis
  • Lamellar Ichthyosis

  • Congenital Ichthyosiform Erythroderma

  • Li

  • Congenital Nonbullous Ichthyosiform Erythroderma

  • Arci

  • Congenital Lamellar Ichthyosis

  • Nonbullous Congenital Ichthyosiform Erythroderma

  • Cie

  • Congenital Non-Bullous Ichthyosiform Erythroderma

  • Erythrodermic Ichthyosis

  • Nbcie

  • Ncie

  • Non-Bullous Congenital Ichthyosiform Erythroderma

  • Collodion Baby

  • Ichthyosis, Lamellar

  • Non Bullous Congenital Ichthyosiform Erythroderma

  • Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form

  • Ichthyosiform Erythroderma, Congenital, Nonbullous, 1

  • Collodion Baby Syndrome

  • Ichthyoses, Lamellar

  • Nbie

  • Nonbullous Ichthyosiform Erythroderma

  • Classic Lamellar Ichthyosis

  • Ichthyosiform Erythroderma Nonbullous Congenital

  • Ichthyosiform Erythroderma Congenital

  • Ichthyosis, Congenital, Autosomal Recessive

  • Ichthyosiform Erythroderma, Congenital

  • Collodion Fetus

  • Non-Bullous Ichthyosiform Erythroderma

Ichthyosis
  • Ichthyoses

  • Non-Syndromic Ichthyosis

  • Congenital Ichthyosis

Trichothiodystrophy 1, Photosensitive
  • TTD1

  • Tay Syndrome

  • Trichothiodystrophy With Congenital Ichthyosis

  • Photosensitive Trichothiodystrophy

  • Ibids Syndrome

  • Ttdp

  • Ichthyosiform Erythroderma With Hair Abnormality And Mental And Growth Retardation

  • Ichthyosis, Congenital, With Trichothiodystrophy

  • Pibids Syndrome

  • Photosensitive Trichothiodystrophy 1

  • Trichothiodystrophy, Photosensitive

  • Sulfur-Deficient Brittle Hair Syndrome

  • Ttd-P

  • Ichthyosis With Brittle Hair, Intellectual Impairment, Decreased Fertility And Short Stature

  • Trichothiodystrophy Photosensitive

  • Trichothiodystrophy, Type 1

  • Tricho-Thiodystrophy Disorder

  • Trichothiodystrophy Syndromes

  • Amish Brittle Hair Brain Syndrome

Ichthyosis, Congenital, Autosomal Recessive 7
  • ARCI7

  • Autosomal Recessive Congenital Ichthyosis 7

Ichthyosis, Congenital, Autosomal Recessive 1
  • Collodion Fetus

  • Autosomal Recessive Congenital Ichthyosis 1

  • ARCI1

  • Ichthyosis Congenita

  • Lamellar Exfoliation Of Newborn

  • Desquamation Of Newborn

  • Ichthyosis Congenita Ii

  • Shcb

  • Icr2

  • Bathing Suit Ichthyosis

  • Li1

  • Self-Healing Collodion Baby

  • Ichthyosis, Congenital, Autosomal Recessive 1, With Bathing Suit Distribution

  • Collodion Baby, Self-Healing

  • Ichthyosis, Lamellar, 1, Formerly

  • Li1, Formerly

  • Ichthyosis Lamellar 1

  • Lamellar Ichthyosis, Type 1

  • Bsi

  • Autosomal Recessive Congenital Ichthyosis 1 With Bathing Suit Distribution

  • Autosomal Recessive Congenital Ichthyosis Tgm1-Related

  • Lamellar Ichthyosis 1

  • Non-Erythrodermic Ichthyosis

  • Ichthyosis, Congenital, Autosomal Recessive, Type 1

  • Congenital Ichthyosis

Root Caries
  • Cementum Caries

  • Dental Caries Of Root Surface

Fundus Albipunctatus
  • Retinitis Punctata Albescens

  • Pigmentary Retinal Dystrophy

  • RPA

  • Albipunctate Retinal Dystrophy

  • Lauber'S Disease

  • FALBI

  • Fa

Ichthyosis, Congenital, Autosomal Recessive 4b
  • Harlequin Ichthyosis

  • Autosomal Recessive Congenital Ichthyosis 4b

  • Hi

  • Harlequin Fetus

  • ARCI4B

  • Ichthyosis Congenita, Harlequin Fetus Type

  • Harlequin Type Ichthyosis

  • 'Harlequin Fetus'

  • Harlequin Type Ichthyosis Congenita

  • Harlequin Type Ichthyosis Fetalis

  • Harlequin Baby Syndrome

  • Ichthyosis Congenita, Harlequin Type

  • Ichthyosis Fetalis, Harlequin Type

  • Ichthyosis Congenita Harlequin Fetus Type

  • Ichthyosis, Harlequin

  • Ichthyosis, Congenital, Autosomal Recessive, Type 4b

Vulvar Leiomyosarcoma
Microphthalmia, Syndromic 9
  • Matthew-Wood Syndrome

  • Spear Syndrome

  • Anophthalmia/Microphthalmia And Pulmonary Hypoplasia

  • Microphthalmia, Isolated, With Coloboma 8

  • MCOPS9

  • Anophthalmia, Clinical, With Mild Facial Dysmorphism And Variable Malformations Of The Lung, Heart, And Diaphragm

  • Pulmonary Hypoplasia-Diaphragmatic Hernia-Anophthalmia-Cardiac Defect

  • Pdac

  • Pulmonary Agenesis, Microphthalmia, And Diaphragmatic Defect

  • Pmd

  • Syndromic Microphthalmia 9

  • Anophthalmia-Pulmonary Hypoplasia Syndrome

  • Clinical Anophthalmia Mild Facial Dysmorphism Lung Heart And Diaphragm Malformations

  • Pulmonary Agenesis Microphthalmi And Diaphragmatic Defect

  • Microphthalmia Syndromic 9

  • Matthew Wood Syndrome

  • Pdac Syndrome

  • Pulmonary Hypoplasia-Diaphragmatic Hernia-Anophthalmia-Cardiac Defect Syndrome

  • Microphthalmia, Isolated, With Coloboma, 8

  • MCOPCB8

  • Isolated Colobomatous Microphthalmia 8

  • Microphthalmia, Syndromic, 9

  • Anophthalmia With Pulmonary Hypoplasia

  • Microphthalmia Syndromic, Type 9

  • Anophthalmia And Pulmonary Hypoplasia

Ichthyosis, Congenital, Autosomal Recessive 2
  • Autosomal Recessive Congenital Ichthyosis 2

  • ARCI2

  • Ncie1

  • Ichthyosiform Erythroderma, Congenital

  • Collodion Baby, Self-Healing

  • Ichthyosiform Erythroderma, Nonbullous Congenital, 1, Formerly

  • Ncie1, Formerly

  • Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form, Formerly

  • Brocq Congenital Ichthyosiform Erythroderma Nonbullous Form

  • Nonbullous Congenital Ichthyosiform Erythroderma 1

  • Cie

  • Ichthyosiform Erythroderma Brocq Congenital Non-Bullous Form

  • Iecn1

  • Non-Bullous Congenital Ichthyosiform Erythroderma Type 1

  • Self-Healing Collodion Baby

  • Ichthyosis, Congenital, Autosomal Recessive, Type 2

  • Ichthyosiform Erythroderma, Congenital, Nonbullous, 1

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

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

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

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

Orthologs Information

Species Symbol Source ID
Rattus norvegicus SDR9C7 RGD RGD:628716
Canis familiaris SDR9C7 VGNC VGNC:45958
Mus musculus SDR9C7 MGD MGI:1917311
Bos taurus SDR9C7 VGNC VGNC:34398
Others SDR9C7 NCBI