SDR16C5 (short chain dehydrogenase/reductase family 16C member 5) - Rat Genome Database

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Gene: SDR16C5 (short chain dehydrogenase/reductase family 16C member 5) Homo sapiens
Analyze
Symbol: SDR16C5
Name: short chain dehydrogenase/reductase family 16C member 5
RGD ID: 1604728
HGNC Page HGNC:30311
Description: Enables NAD-retinol dehydrogenase activity; RNA polymerase II-specific DNA-binding transcription factor binding activity; and transcription corepressor activity. Involved in keratinocyte proliferation; negative regulation of macromolecule biosynthetic process; and retinoid metabolic process. Located in endoplasmic reticulum membrane; nucleus; and plasma membrane. Part of chromatin and transcription repressor complex.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: EPHD-2; epidermal retinal dehydrogenase 2; epidermal retinol dehydrogenase 2; FLJ33105; RDH#2; RDH-E2; RDHE2; retinal short chain dehydrogenase reductase; retinal short-chain dehydrogenase reductase 2; retSDR2; short chain dehydrogenase/reductase family 16C, member 5; short-chain dehydrogenase/reductase family 16C member 5
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38856,300,005 - 56,320,175 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl856,300,005 - 56,320,776 (-)EnsemblGRCh38hg38GRCh38
GRCh37857,212,564 - 57,232,734 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36857,375,122 - 57,395,795 (-)NCBINCBI36Build 36hg18NCBI36
Celera853,202,994 - 53,224,037 (-)NCBICelera
Cytogenetic Map8q12.1NCBI
HuRef852,679,741 - 52,700,502 (-)NCBIHuRef
CHM1_1857,264,741 - 57,285,268 (-)NCBICHM1_1
T2T-CHM13v2.0856,677,119 - 56,697,312 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12372410   PMID:12407145   PMID:12477932   PMID:14702039   PMID:15457346   PMID:16691198   PMID:18391950   PMID:18391951   PMID:18926804   PMID:19102727   PMID:20379614   PMID:20546612  
PMID:20881960   PMID:21873635   PMID:21988832   PMID:23563607   PMID:25429064   PMID:28514442   PMID:32296183   PMID:33961781  


Genomics

Comparative Map Data
SDR16C5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38856,300,005 - 56,320,175 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl856,300,005 - 56,320,776 (-)EnsemblGRCh38hg38GRCh38
GRCh37857,212,564 - 57,232,734 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36857,375,122 - 57,395,795 (-)NCBINCBI36Build 36hg18NCBI36
Celera853,202,994 - 53,224,037 (-)NCBICelera
Cytogenetic Map8q12.1NCBI
HuRef852,679,741 - 52,700,502 (-)NCBIHuRef
CHM1_1857,264,741 - 57,285,268 (-)NCBICHM1_1
T2T-CHM13v2.0856,677,119 - 56,697,312 (-)NCBIT2T-CHM13v2.0
Sdr16c5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3943,995,942 - 4,019,663 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl43,995,936 - 4,019,663 (-)EnsemblGRCm39 Ensembl
GRCm3843,995,942 - 4,019,663 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl43,995,936 - 4,019,663 (-)EnsemblGRCm38mm10GRCm38
MGSCv3743,923,089 - 3,946,810 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3643,923,089 - 3,946,810 (-)NCBIMGSCv36mm8
Celera43,952,520 - 3,977,907 (-)NCBICelera
Cytogenetic Map4A1NCBI
cM Map42.23NCBI
Sdr16c5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8521,816,394 - 21,841,596 (-)NCBIGRCr8
mRatBN7.2517,018,813 - 17,043,974 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl517,018,813 - 17,040,970 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx519,259,704 - 19,281,871 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0520,858,201 - 20,880,369 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0520,609,663 - 20,631,775 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0516,904,926 - 16,930,111 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl516,904,926 - 16,930,075 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0521,681,674 - 21,706,737 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4517,339,715 - 17,361,781 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera516,384,689 - 16,406,286 (-)NCBICelera
Cytogenetic Map5q12NCBI
Sdr16c5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545415,339,297 - 15,351,628 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545415,339,353 - 15,349,180 (-)NCBIChiLan1.0ChiLan1.0
SDR16C5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2771,957,777 - 71,980,560 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1847,682,331 - 47,707,254 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0852,746,371 - 52,769,269 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1850,116,544 - 50,137,811 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl850,113,413 - 50,137,717 (-)Ensemblpanpan1.1panPan2
SDR16C5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1297,660,882 - 7,679,705 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl297,661,633 - 7,679,622 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha297,974,333 - 7,992,397 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0297,736,172 - 7,754,244 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl297,736,172 - 7,754,161 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1297,749,727 - 7,768,520 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0297,881,428 - 7,900,176 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0298,159,225 - 8,177,611 (-)NCBIUU_Cfam_GSD_1.0
LOC101970041
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530371,848,195 - 71,865,912 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364962,919,522 - 2,937,274 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364962,919,611 - 2,937,274 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SDR16C5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl475,586,525 - 75,598,989 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1475,586,346 - 75,598,985 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2482,505,913 - 82,518,540 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LOC103236829
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1852,330,362 - 52,365,253 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl852,330,731 - 52,351,250 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603989,442,391 - 89,462,973 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in SDR16C5
18 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q12.1(chr8:55423413-58836753)x1 copy number loss See cases [RCV000054240] Chr8:55423413..58836753 [GRCh38]
Chr8:56335973..59749312 [GRCh37]
Chr8:56498527..59911866 [NCBI36]
Chr8:8q12.1
pathogenic
NM_138969.2(SDR16C5):c.918G>A (p.Lys306=) single nucleotide variant Malignant melanoma [RCV000068354] Chr8:56301492 [GRCh38]
Chr8:57214051 [GRCh37]
Chr8:57376605 [NCBI36]
Chr8:8q12.1
not provided
NM_138969.2(SDR16C5):c.235G>A (p.Glu79Lys) single nucleotide variant Malignant melanoma [RCV000061812] Chr8:56316113 [GRCh38]
Chr8:57228672 [GRCh37]
Chr8:57391226 [NCBI36]
Chr8:8q12.1
not provided
GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3 copy number gain See cases [RCV000133720] Chr8:46031334..69303787 [GRCh38]
Chr8:46942956..70216022 [GRCh37]
Chr8:47062121..70378576 [NCBI36]
Chr8:8q11.1-13.2
pathogenic
GRCh38/hg38 8q12.1-12.3(chr8:55315854-64952752)x3 copy number gain See cases [RCV000137672] Chr8:55315854..64952752 [GRCh38]
Chr8:56228414..65864987 [GRCh37]
Chr8:56390968..66027541 [NCBI36]
Chr8:8q12.1-12.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3 copy number gain See cases [RCV000139582] Chr8:36580103..59618998 [GRCh38]
Chr8:36437621..60531557 [GRCh37]
Chr8:36556779..60694111 [NCBI36]
Chr8:8p12-q12.1
pathogenic
GRCh38/hg38 8q12.1-12.2(chr8:54821357-61146302)x1 copy number loss See cases [RCV000140643] Chr8:54821357..61146302 [GRCh38]
Chr8:55733917..62058861 [GRCh37]
Chr8:55896471..62221415 [NCBI36]
Chr8:8q12.1-12.2
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q12.1(chr8:54764950-56785299)x1 copy number loss See cases [RCV000142992] Chr8:54764950..56785299 [GRCh38]
Chr8:55677510..57697858 [GRCh37]
Chr8:55840064..57860412 [NCBI36]
Chr8:8q12.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q11.21-12.1(chr8:49471778-57825470)x1 copy number loss See cases [RCV000142642] Chr8:49471778..57825470 [GRCh38]
Chr8:50384337..58738029 [GRCh37]
Chr8:50546890..58900583 [NCBI36]
Chr8:8q11.21-12.1
pathogenic|likely pathogenic
GRCh38/hg38 8q11.23-12.3(chr8:53325389-61863018)x1 copy number loss See cases [RCV000143182] Chr8:53325389..61863018 [GRCh38]
Chr8:54237949..62775577 [GRCh37]
Chr8:54400502..62938131 [NCBI36]
Chr8:8q11.23-12.3
pathogenic
GRCh38/hg38 8q12.1(chr8:56220544-57002161)x3 copy number gain See cases [RCV000143778] Chr8:56220544..57002161 [GRCh38]
Chr8:57133103..57914720 [GRCh37]
Chr8:57295657..58077274 [NCBI36]
Chr8:8q12.1
uncertain significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q11.23-12.3(chr8:53436131-65195953)x3 copy number gain See cases [RCV000239428] Chr8:53436131..65195953 [GRCh37]
Chr8:8q11.23-12.3
pathogenic
GRCh37/hg19 8q12.1(chr8:56405320-57358911)x1 copy number loss See cases [RCV000240504] Chr8:56405320..57358911 [GRCh37]
Chr8:8q12.1
likely pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q11.23-12.1(chr8:54661151-57790737)x3 copy number gain See cases [RCV000445710] Chr8:54661151..57790737 [GRCh37]
Chr8:8q11.23-12.1
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q11.21-12.1(chr8:49822483-58822602)x1 copy number loss not provided [RCV000747540] Chr8:49822483..58822602 [GRCh37]
Chr8:8q11.21-12.1
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p11.22-q12.3(chr8:39555657-64049089)x3 copy number gain not provided [RCV000846266] Chr8:39555657..64049089 [GRCh37]
Chr8:8p11.22-q12.3
pathogenic
NM_138969.4(SDR16C5):c.332A>G (p.Gln111Arg) single nucleotide variant Inborn genetic diseases [RCV003251311] Chr8:56316016 [GRCh38]
Chr8:57228575 [GRCh37]
Chr8:8q12.1
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NC_000008.10:g.(?_56854419)_(57906144_?)dup duplication not provided [RCV002020622] Chr8:56854419..57906144 [GRCh37]
Chr8:8q12.1
uncertain significance
NM_138969.4(SDR16C5):c.349G>A (p.Gly117Ser) single nucleotide variant Inborn genetic diseases [RCV002772757] Chr8:56312273 [GRCh38]
Chr8:57224832 [GRCh37]
Chr8:8q12.1
uncertain significance
NM_138969.4(SDR16C5):c.218A>G (p.Asn73Ser) single nucleotide variant Inborn genetic diseases [RCV002774191] Chr8:56316130 [GRCh38]
Chr8:57228689 [GRCh37]
Chr8:8q12.1
uncertain significance
NM_138969.4(SDR16C5):c.815A>G (p.Tyr272Cys) single nucleotide variant Inborn genetic diseases [RCV002837383] Chr8:56305618 [GRCh38]
Chr8:57218177 [GRCh37]
Chr8:8q12.1
uncertain significance
NM_138969.4(SDR16C5):c.367A>T (p.Ile123Phe) single nucleotide variant Inborn genetic diseases [RCV002901229] Chr8:56312255 [GRCh38]
Chr8:57224814 [GRCh37]
Chr8:8q12.1
uncertain significance
NM_138969.4(SDR16C5):c.736G>A (p.Glu246Lys) single nucleotide variant Inborn genetic diseases [RCV002798602] Chr8:56305697 [GRCh38]
Chr8:57218256 [GRCh37]
Chr8:8q12.1
uncertain significance
NM_138969.4(SDR16C5):c.629T>C (p.Val210Ala) single nucleotide variant Inborn genetic diseases [RCV002954594] Chr8:56306757 [GRCh38]
Chr8:57219316 [GRCh37]
Chr8:8q12.1
likely benign
NM_138969.4(SDR16C5):c.530G>C (p.Ser177Thr) single nucleotide variant Inborn genetic diseases [RCV002984892] Chr8:56308963 [GRCh38]
Chr8:57221522 [GRCh37]
Chr8:8q12.1
uncertain significance
NM_138969.4(SDR16C5):c.460T>G (p.Leu154Val) single nucleotide variant Inborn genetic diseases [RCV002919732] Chr8:56312162 [GRCh38]
Chr8:57224721 [GRCh37]
Chr8:8q12.1
uncertain significance
NM_138969.4(SDR16C5):c.628G>C (p.Val210Leu) single nucleotide variant Inborn genetic diseases [RCV002804777] Chr8:56306758 [GRCh38]
Chr8:57219317 [GRCh37]
Chr8:8q12.1
uncertain significance
NM_138969.4(SDR16C5):c.94C>T (p.Pro32Ser) single nucleotide variant Inborn genetic diseases [RCV002929330] Chr8:56316254 [GRCh38]
Chr8:57228813 [GRCh37]
Chr8:8q12.1
uncertain significance
NM_138969.4(SDR16C5):c.296G>A (p.Cys99Tyr) single nucleotide variant Inborn genetic diseases [RCV002920674] Chr8:56316052 [GRCh38]
Chr8:57228611 [GRCh37]
Chr8:8q12.1
uncertain significance
NM_138969.4(SDR16C5):c.802C>A (p.Pro268Thr) single nucleotide variant Inborn genetic diseases [RCV002679262] Chr8:56305631 [GRCh38]
Chr8:57218190 [GRCh37]
Chr8:8q12.1
uncertain significance
NM_138969.4(SDR16C5):c.751G>T (p.Val251Phe) single nucleotide variant Inborn genetic diseases [RCV003204271] Chr8:56305682 [GRCh38]
Chr8:57218241 [GRCh37]
Chr8:8q12.1
uncertain significance
NM_138969.4(SDR16C5):c.676A>G (p.Ile226Val) single nucleotide variant Inborn genetic diseases [RCV003366324] Chr8:56306710 [GRCh38]
Chr8:57219269 [GRCh37]
Chr8:8q12.1
uncertain significance
GRCh37/hg19 8q12.1(chr8:57048524-58117681)x1 copy number loss not provided [RCV003483028] Chr8:57048524..58117681 [GRCh37]
Chr8:8q12.1
likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:766
Count of miRNA genes:504
Interacting mature miRNAs:551
Transcripts:ENST00000303749, ENST00000396721, ENST00000522671
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
D8S2301  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37857,219,128 - 57,219,237UniSTSGRCh37
Build 36857,381,682 - 57,381,791RGDNCBI36
Celera853,209,552 - 53,209,661RGD
HuRef852,686,299 - 52,686,408UniSTS
RDH-E2__5473  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37857,212,399 - 57,213,224UniSTSGRCh37
Build 36857,374,953 - 57,375,778RGDNCBI36
Celera853,202,823 - 53,203,648RGD
HuRef852,679,570 - 52,680,395UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 89 2 5 88 11 4 1297 2 8 2 133 507 90 1 691
Low 850 35 210 90 172 15 293 93 2072 29 589 316 84 1 222 114 1 2
Below cutoff 1459 2294 1041 155 895 155 2497 1972 1533 139 619 593 1 962 1813 3

Sequence


RefSeq Acc Id: ENST00000303749   ⟹   ENSP00000307607
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl856,300,005 - 56,320,175 (-)Ensembl
RefSeq Acc Id: ENST00000396721   ⟹   ENSP00000379947
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl856,300,010 - 56,320,175 (-)Ensembl
RefSeq Acc Id: ENST00000522671   ⟹   ENSP00000431010
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl856,301,301 - 56,320,776 (-)Ensembl
RefSeq Acc Id: NM_001318049   ⟹   NP_001304978
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38856,300,005 - 56,320,175 (-)NCBI
CHM1_1857,264,378 - 57,285,362 (-)NCBI
T2T-CHM13v2.0856,677,119 - 56,697,312 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001318050   ⟹   NP_001304979
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38856,300,005 - 56,320,175 (-)NCBI
CHM1_1857,264,378 - 57,285,362 (-)NCBI
T2T-CHM13v2.0856,677,119 - 56,697,312 (-)NCBI
Sequence:
RefSeq Acc Id: NM_138969   ⟹   NP_620419
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38856,300,005 - 56,320,175 (-)NCBI
GRCh37857,212,570 - 57,233,335 (-)NCBI
Build 36857,375,122 - 57,395,795 (-)NCBI Archive
Celera853,202,994 - 53,224,037 (-)RGD
HuRef852,679,741 - 52,700,502 (-)RGD
CHM1_1857,264,378 - 57,285,362 (-)NCBI
T2T-CHM13v2.0856,677,119 - 56,697,312 (-)NCBI
Sequence:
RefSeq Acc Id: NP_620419   ⟸   NM_138969
- Peptide Label: isoform 2
- UniProtKB: Q8TDV9 (UniProtKB/Swiss-Prot),   Q330K3 (UniProtKB/Swiss-Prot),   B4DGK2 (UniProtKB/Swiss-Prot),   Q96LX1 (UniProtKB/Swiss-Prot),   Q8N3Y7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001304979   ⟸   NM_001318050
- Peptide Label: isoform 3
- UniProtKB: Q8N3Y7 (UniProtKB/Swiss-Prot),   B3KT84 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001304978   ⟸   NM_001318049
- Peptide Label: isoform 1
- UniProtKB: G3V145 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000431010   ⟸   ENST00000522671
RefSeq Acc Id: ENSP00000307607   ⟸   ENST00000303749
RefSeq Acc Id: ENSP00000379947   ⟸   ENST00000396721

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8N3Y7-F1-model_v2 AlphaFold Q8N3Y7 1-309 view protein structure

Promoters
RGD ID:7213345
Promoter ID:EPDNEW_H12418
Type:initiation region
Name:SDR16C5_1
Description:short chain dehydrogenase/reductase family 16C member 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12419  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38856,320,124 - 56,320,184EPDNEW
RGD ID:7213347
Promoter ID:EPDNEW_H12419
Type:initiation region
Name:SDR16C5_2
Description:short chain dehydrogenase/reductase family 16C member 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12418  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38856,320,586 - 56,320,646EPDNEW
RGD ID:6807020
Promoter ID:HG_KWN:61329
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:ENST00000303749,   ENST00000396721,   UC010LYK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36857,395,046 - 57,395,546 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30311 AgrOrtholog
COSMIC SDR16C5 COSMIC
Ensembl Genes ENSG00000170786 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000303749 ENTREZGENE
  ENST00000303749.8 UniProtKB/Swiss-Prot
  ENST00000396721 ENTREZGENE
  ENST00000396721.6 UniProtKB/Swiss-Prot
  ENST00000522671 ENTREZGENE
  ENST00000522671.1 UniProtKB/TrEMBL
Gene3D-CATH NAD(P)-binding Rossmann-like Domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000170786 GTEx
HGNC ID HGNC:30311 ENTREZGENE
Human Proteome Map SDR16C5 Human Proteome Map
InterPro NAD(P)-bd_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SDR_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:195814 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 195814 ENTREZGENE
OMIM 608989 OMIM
PANTHER EPIDERMAL RETINOL DEHYDROGENASE 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PKSB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam adh_short UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA164725585 PharmGKB
PRINTS GDHRDH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SDRFAMILY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF51735 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B3KT84 ENTREZGENE, UniProtKB/TrEMBL
  B4DGK2 ENTREZGENE
  G3V145 ENTREZGENE, UniProtKB/TrEMBL
  Q330K3 ENTREZGENE
  Q8N3Y7 ENTREZGENE
  Q8TDV9 ENTREZGENE
  Q96LX1 ENTREZGENE
  RDHE2_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B4DGK2 UniProtKB/Swiss-Prot
  Q330K3 UniProtKB/Swiss-Prot
  Q8TDV9 UniProtKB/Swiss-Prot
  Q96LX1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-12-20 SDR16C5  short chain dehydrogenase/reductase family 16C member 5  SDR16C5  short chain dehydrogenase/reductase family 16C, member 5  Symbol and/or name change 5135510 APPROVED