SPATA24 (spermatogenesis associated 24) - Rat Genome Database

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Gene: SPATA24 (spermatogenesis associated 24) Homo sapiens
Analyze
Symbol: SPATA24
Name: spermatogenesis associated 24
RGD ID: 3005862
HGNC Page HGNC:27322
Description: Predicted to enable DNA binding activity. Predicted to be involved in cell differentiation and spermatogenesis. Located in cytosol and nucleoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: CCDC161; coiled-coil domain containing 161; spermatogenesis-associated protein 24; T6441; testis protein T6441 homolog
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
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
GRCh385139,392,500 - 139,404,089 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5139,396,563 - 139,404,089 (-)EnsemblGRCh38hg38GRCh38
GRCh375138,732,456 - 138,739,778 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365138,760,355 - 138,767,652 (-)NCBINCBI36Build 36hg18NCBI36
Celera5134,852,451 - 134,859,487 (-)NCBICelera
Cytogenetic Map5q31.2NCBI
HuRef5133,922,187 - 133,929,509 (-)NCBIHuRef
CHM1_15138,165,076 - 138,172,396 (-)NCBICHM1_1
T2T-CHM13v2.05139,922,301 - 139,929,892 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IBA,IEA)
cytosol  (IDA)
male germ cell nucleus  (IEA)
nucleolus  (IEA)
nucleoplasm  (IDA,IEA)
nucleus  (IBA,IEA)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:16146721   PMID:16341674   PMID:17207965   PMID:18029348   PMID:19240791   PMID:21565611   PMID:21873635   PMID:21988832   PMID:23455924   PMID:25416956   PMID:26638075  
PMID:28514442   PMID:30021884   PMID:32296183   PMID:33961781   PMID:34079125  


Genomics

Comparative Map Data
SPATA24
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385139,392,500 - 139,404,089 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5139,396,563 - 139,404,089 (-)EnsemblGRCh38hg38GRCh38
GRCh375138,732,456 - 138,739,778 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365138,760,355 - 138,767,652 (-)NCBINCBI36Build 36hg18NCBI36
Celera5134,852,451 - 134,859,487 (-)NCBICelera
Cytogenetic Map5q31.2NCBI
HuRef5133,922,187 - 133,929,509 (-)NCBIHuRef
CHM1_15138,165,076 - 138,172,396 (-)NCBICHM1_1
T2T-CHM13v2.05139,922,301 - 139,929,892 (-)NCBIT2T-CHM13v2.0
Spata24
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391835,789,742 - 35,795,239 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1835,789,742 - 35,795,239 (-)EnsemblGRCm39 Ensembl
GRCm381835,656,689 - 35,662,186 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1835,656,689 - 35,662,186 (-)EnsemblGRCm38mm10GRCm38
MGSCv371835,816,343 - 35,821,840 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361835,782,664 - 35,788,160 (-)NCBIMGSCv36mm8
Celera1836,112,811 - 36,118,308 (-)NCBICelera
Cytogenetic Map18B2NCBI
cM Map1819.2NCBI
Spata24
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81827,523,133 - 27,531,375 (-)NCBIGRCr8
mRatBN7.21827,249,047 - 27,257,129 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1827,248,609 - 27,257,124 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1827,382,358 - 27,384,471 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01828,144,481 - 28,146,594 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01827,479,363 - 27,481,476 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01828,446,592 - 28,454,724 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1828,446,589 - 28,454,756 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01828,159,702 - 28,167,849 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41828,279,137 - 28,281,228 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11828,305,834 - 28,307,874 (-)NCBI
Celera1826,988,494 - 26,990,607 (-)NCBICelera
Cytogenetic Map18p11NCBI
Spata24
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554181,157,089 - 1,165,636 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554181,157,089 - 1,163,897 (+)NCBIChiLan1.0ChiLan1.0
SPATA24
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v24134,663,654 - 134,671,089 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan15132,803,206 - 132,813,799 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v05134,767,828 - 134,775,171 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.15140,890,255 - 140,897,927 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5140,890,610 - 140,897,927 (-)Ensemblpanpan1.1panPan2
SPATA24
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1234,719,710 - 34,724,880 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl234,719,713 - 34,724,843 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha231,822,002 - 31,827,188 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0235,173,790 - 35,178,974 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl235,173,795 - 35,178,956 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1232,226,237 - 32,231,421 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0233,092,537 - 33,097,724 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0233,844,160 - 33,849,346 (-)NCBIUU_Cfam_GSD_1.0
Spata24
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213153,121,278 - 153,127,313 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365318,483,834 - 8,490,249 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365318,484,192 - 8,490,205 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SPATA24
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl2141,286,880 - 141,293,227 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.12141,286,870 - 141,293,232 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.22147,117,481 - 147,123,861 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SPATA24
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12342,069,223 - 42,077,304 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2342,069,256 - 42,076,480 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603435,811,367 - 35,818,748 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Spata24
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474332,201,286 - 32,207,177 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474332,201,285 - 32,207,197 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SPATA24
50 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3 copy number gain See cases [RCV000051193] Chr5:130860928..155321811 [GRCh38]
Chr5:130196621..154701371 [GRCh37]
Chr5:130224520..154681564 [NCBI36]
Chr5:5q23.3-33.2
pathogenic
GRCh38/hg38 5q31.2(chr5:139151411-139493628)x3 copy number gain See cases [RCV000051862] Chr5:139151411..139493628 [GRCh38]
Chr5:138487100..138873213 [GRCh37]
Chr5:138514999..138853397 [NCBI36]
Chr5:5q31.2
pathogenic
GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1 copy number loss See cases [RCV000052142] Chr5:138871137..145812309 [GRCh38]
Chr5:138206826..145191872 [GRCh37]
Chr5:138234725..145172065 [NCBI36]
Chr5:5q31.2-32
pathogenic
GRCh38/hg38 5q31.2(chr5:138738648-139442996)x1 copy number loss See cases [RCV000052579] Chr5:138738648..139442996 [GRCh38]
Chr5:138074337..138778685 [GRCh37]
Chr5:138102236..138806584 [NCBI36]
Chr5:5q31.2
uncertain significance
GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1 copy number loss See cases [RCV000053524] Chr5:106619588..156124387 [GRCh38]
Chr5:105955289..155551397 [GRCh37]
Chr5:105983188..155483975 [NCBI36]
Chr5:5q21.3-33.2
pathogenic
GRCh38/hg38 5q31.1-31.3(chr5:135297294-140106003)x3 copy number gain See cases [RCV000133750] Chr5:135297294..140106003 [GRCh38]
Chr5:134632984..139485588 [GRCh37]
Chr5:134660883..139465772 [NCBI36]
Chr5:5q31.1-31.3
pathogenic
GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)x3 copy number gain See cases [RCV000134725] Chr5:137836682..140696361 [GRCh38]
Chr5:137172371..140075946 [GRCh37]
Chr5:137200270..140056130 [NCBI36]
Chr5:5q31.2-31.3
pathogenic
GRCh38/hg38 5q31.2(chr5:139103408-139683294)x3 copy number gain See cases [RCV000137000] Chr5:139103408..139683294 [GRCh38]
Chr5:138439097..139062879 [GRCh37]
Chr5:138466996..139043063 [NCBI36]
Chr5:5q31.2
uncertain significance
GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3 copy number gain See cases [RCV000138808] Chr5:129847794..153353546 [GRCh38]
Chr5:129183487..152733106 [GRCh37]
Chr5:129211386..152713299 [NCBI36]
Chr5:5q23.3-33.2
pathogenic
GRCh38/hg38 5q31.2-31.3(chr5:138942857-144605017)x3 copy number gain See cases [RCV000142806] Chr5:138942857..144605017 [GRCh38]
Chr5:138278546..143984580 [GRCh37]
Chr5:138306445..143964773 [NCBI36]
Chr5:5q31.2-31.3
uncertain significance
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3
likely benign
NM_001161546.2(PROB1):c.1507C>A (p.Pro503Thr) single nucleotide variant not provided [RCV000966964] Chr5:139393575 [GRCh38]
Chr5:138729264 [GRCh37]
Chr5:5q31.2
benign
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910)x3 copy number gain See cases [RCV000449349] Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3
pathogenic
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 copy number gain See cases [RCV000448245] Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3
pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NC_000005.9:g.(?_86400000)_(154000000_?)del deletion Familial adenomatous polyposis 1 [RCV002231249]|Hereditary cancer-predisposing syndrome [RCV000554476] Chr5:86400000..154000000 [GRCh37]
Chr5:5q14.3-33.2
pathogenic
GRCh37/hg19 5q31.2(chr5:138390162-139160907)x3 copy number gain not provided [RCV000682599] Chr5:138390162..139160907 [GRCh37]
Chr5:5q31.2
uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_001161546.2(PROB1):c.1061G>C (p.Arg354Pro) single nucleotide variant Inborn genetic diseases [RCV003267685] Chr5:139394021 [GRCh38]
Chr5:138729710 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.2333C>T (p.Pro778Leu) single nucleotide variant Inborn genetic diseases [RCV003288894] Chr5:139392749 [GRCh38]
Chr5:138728438 [GRCh37]
Chr5:5q31.2
uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32
uncertain significance
NM_001161546.2(PROB1):c.1283C>T (p.Pro428Leu) single nucleotide variant Inborn genetic diseases [RCV003250991] Chr5:139393799 [GRCh38]
Chr5:138729488 [GRCh37]
Chr5:5q31.2
uncertain significance
GRCh37/hg19 5q31.2(chr5:137865800-139097368)x1 copy number loss not provided [RCV000846144] Chr5:137865800..139097368 [GRCh37]
Chr5:5q31.2
pathogenic
NC_000005.9:g.(?_138266142)_(138861289_?)dup duplication not provided [RCV003107539] Chr5:138266142..138861289 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.2198T>C (p.Ile733Thr) single nucleotide variant Inborn genetic diseases [RCV003251058] Chr5:139392884 [GRCh38]
Chr5:138728573 [GRCh37]
Chr5:5q31.2
uncertain significance
GRCh37/hg19 5q31.2(chr5:138101724-138876953)x3 copy number gain not provided [RCV001259915] Chr5:138101724..138876953 [GRCh37]
Chr5:5q31.2
uncertain significance
GRCh37/hg19 5q31.2(chr5:138351402-138893343)x3 copy number gain not provided [RCV001259916] Chr5:138351402..138893343 [GRCh37]
Chr5:5q31.2
uncertain significance
GRCh37/hg19 5q31.2(chr5:137754277-138994590)x1 copy number loss not provided [RCV001270645] Chr5:137754277..138994590 [GRCh37]
Chr5:5q31.2
likely pathogenic
NC_000005.9:g.(?_136633338)_(140998481_?)dup duplication PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001339088] Chr5:136633338..140998481 [GRCh37]
Chr5:5q31.2-31.3
uncertain significance
GRCh37/hg19 5q31.2(chr5:138386858-138935115)x3 copy number gain not provided [RCV001827923] Chr5:138386858..138935115 [GRCh37]
Chr5:5q31.2
uncertain significance
GRCh37/hg19 5q31.2(chr5:138675227-139314012)x1 copy number loss not provided [RCV001834327] Chr5:138675227..139314012 [GRCh37]
Chr5:5q31.2
uncertain significance
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910) copy number gain not specified [RCV002053526] Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3
pathogenic
NM_001161546.2(PROB1):c.2003C>T (p.Pro668Leu) single nucleotide variant not provided [RCV000910266] Chr5:139393079 [GRCh38]
Chr5:138728768 [GRCh37]
Chr5:5q31.2
benign
NM_001161546.2(PROB1):c.1475C>G (p.Pro492Arg) single nucleotide variant not provided [RCV000955344] Chr5:139393607 [GRCh38]
Chr5:138729296 [GRCh37]
Chr5:5q31.2
benign
NM_001161546.2(PROB1):c.1517C>T (p.Ala506Val) single nucleotide variant not provided [RCV000880602] Chr5:139393565 [GRCh38]
Chr5:138729254 [GRCh37]
Chr5:5q31.2
benign
NM_001161546.2(PROB1):c.32C>T (p.Pro11Leu) single nucleotide variant Inborn genetic diseases [RCV002548371]|not provided [RCV000973242] Chr5:139395050 [GRCh38]
Chr5:138730739 [GRCh37]
Chr5:5q31.2
likely benign|uncertain significance
NM_001161546.2(PROB1):c.127C>G (p.Pro43Ala) single nucleotide variant not provided [RCV000966965] Chr5:139394955 [GRCh38]
Chr5:138730644 [GRCh37]
Chr5:5q31.2
benign
NM_001161546.2(PROB1):c.2364C>T (p.Arg788=) single nucleotide variant not provided [RCV000884556] Chr5:139392718 [GRCh38]
Chr5:138728407 [GRCh37]
Chr5:5q31.2
benign
NM_001161546.2(PROB1):c.780C>G (p.Ser260Arg) single nucleotide variant not provided [RCV000971884] Chr5:139394302 [GRCh38]
Chr5:138729991 [GRCh37]
Chr5:5q31.2
benign
NM_001161546.2(PROB1):c.671G>A (p.Gly224Asp) single nucleotide variant Keratoconus 1 [RCV000491696] Chr5:139394411 [GRCh38]
Chr5:138730100 [GRCh37]
Chr5:5q31.2
uncertain significance
NC_000005.9:g.(?_136957787)_(140078137_?)dup duplication PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003116437] Chr5:136957787..140078137 [GRCh37]
Chr5:5q31.2-31.3
uncertain significance
NC_000005.9:g.(?_136957787)_(138861289_?)del deletion STING-associated vasculopathy with onset in infancy [RCV003113978] Chr5:136957787..138861289 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.1151C>T (p.Pro384Leu) single nucleotide variant Inborn genetic diseases [RCV003261470] Chr5:139393931 [GRCh38]
Chr5:138729620 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.961C>G (p.Arg321Gly) single nucleotide variant Inborn genetic diseases [RCV002859475] Chr5:139394121 [GRCh38]
Chr5:138729810 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.644G>A (p.Arg215Gln) single nucleotide variant Inborn genetic diseases [RCV002840713] Chr5:139394438 [GRCh38]
Chr5:138730127 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.581A>T (p.Glu194Val) single nucleotide variant Inborn genetic diseases [RCV002779659] Chr5:139394501 [GRCh38]
Chr5:138730190 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.200C>T (p.Ala67Val) single nucleotide variant Inborn genetic diseases [RCV002969002] Chr5:139394882 [GRCh38]
Chr5:138730571 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.1399G>A (p.Gly467Arg) single nucleotide variant Inborn genetic diseases [RCV002689331] Chr5:139393683 [GRCh38]
Chr5:138729372 [GRCh37]
Chr5:5q31.2
likely benign
GRCh37/hg19 5q31.2(chr5:137893096-138868605)x3 copy number gain not provided [RCV002475593] Chr5:137893096..138868605 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.1751T>C (p.Val584Ala) single nucleotide variant Inborn genetic diseases [RCV002882943] Chr5:139393331 [GRCh38]
Chr5:138729020 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.29T>C (p.Leu10Pro) single nucleotide variant Inborn genetic diseases [RCV002782428] Chr5:139395053 [GRCh38]
Chr5:138730742 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.152A>G (p.Lys51Arg) single nucleotide variant Inborn genetic diseases [RCV002887046] Chr5:139394930 [GRCh38]
Chr5:138730619 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.1022G>T (p.Ser341Ile) single nucleotide variant Inborn genetic diseases [RCV002692967] Chr5:139394060 [GRCh38]
Chr5:138729749 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.352G>A (p.Gly118Arg) single nucleotide variant Inborn genetic diseases [RCV002870263] Chr5:139394730 [GRCh38]
Chr5:138730419 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.1678A>G (p.Thr560Ala) single nucleotide variant Inborn genetic diseases [RCV002697308] Chr5:139393404 [GRCh38]
Chr5:138729093 [GRCh37]
Chr5:5q31.2
likely benign
NM_001161546.2(PROB1):c.919G>A (p.Ala307Thr) single nucleotide variant Inborn genetic diseases [RCV002826177] Chr5:139394163 [GRCh38]
Chr5:138729852 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.827G>A (p.Arg276Gln) single nucleotide variant Inborn genetic diseases [RCV002698785] Chr5:139394255 [GRCh38]
Chr5:138729944 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.466C>G (p.Arg156Gly) single nucleotide variant Inborn genetic diseases [RCV002930678] Chr5:139394616 [GRCh38]
Chr5:138730305 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.47A>G (p.Gln16Arg) single nucleotide variant Inborn genetic diseases [RCV002853949] Chr5:139395035 [GRCh38]
Chr5:138730724 [GRCh37]
Chr5:5q31.2
likely benign
NM_194296.2(SPATA24):c.268G>A (p.Val90Met) single nucleotide variant Inborn genetic diseases [RCV002788802] Chr5:139401961 [GRCh38]
Chr5:138737650 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.2341G>A (p.Gly781Ser) single nucleotide variant Inborn genetic diseases [RCV003006674] Chr5:139392741 [GRCh38]
Chr5:138728430 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.2371G>T (p.Val791Leu) single nucleotide variant Inborn genetic diseases [RCV002698149] Chr5:139392711 [GRCh38]
Chr5:138728400 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.2021C>T (p.Pro674Leu) single nucleotide variant Inborn genetic diseases [RCV002802870] Chr5:139393061 [GRCh38]
Chr5:138728750 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.353G>A (p.Gly118Glu) single nucleotide variant Inborn genetic diseases [RCV002940944] Chr5:139394729 [GRCh38]
Chr5:138730418 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.1217G>T (p.Gly406Val) single nucleotide variant Inborn genetic diseases [RCV002941199] Chr5:139393865 [GRCh38]
Chr5:138729554 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.665C>T (p.Ala222Val) single nucleotide variant Inborn genetic diseases [RCV002670231] Chr5:139394417 [GRCh38]
Chr5:138730106 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.2066C>A (p.Pro689Gln) single nucleotide variant Inborn genetic diseases [RCV002769025] Chr5:139393016 [GRCh38]
Chr5:138728705 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.2080C>T (p.Pro694Ser) single nucleotide variant Inborn genetic diseases [RCV003010754] Chr5:139393002 [GRCh38]
Chr5:138728691 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.1649C>T (p.Thr550Ile) single nucleotide variant Inborn genetic diseases [RCV002934709] Chr5:139393433 [GRCh38]
Chr5:138729122 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_194296.2(SPATA24):c.129G>C (p.Gln43His) single nucleotide variant Inborn genetic diseases [RCV002724223] Chr5:139402682 [GRCh38]
Chr5:138738371 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.290G>T (p.Arg97Leu) single nucleotide variant Inborn genetic diseases [RCV002677345] Chr5:139394792 [GRCh38]
Chr5:138730481 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.583G>A (p.Glu195Lys) single nucleotide variant Inborn genetic diseases [RCV002679434] Chr5:139394499 [GRCh38]
Chr5:138730188 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.2422G>A (p.Ala808Thr) single nucleotide variant Inborn genetic diseases [RCV002724550] Chr5:139392660 [GRCh38]
Chr5:138728349 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.1940G>A (p.Gly647Glu) single nucleotide variant Inborn genetic diseases [RCV003194925] Chr5:139393142 [GRCh38]
Chr5:138728831 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.836C>A (p.Pro279His) single nucleotide variant Inborn genetic diseases [RCV003180746] Chr5:139394246 [GRCh38]
Chr5:138729935 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.1346G>A (p.Ser449Asn) single nucleotide variant Inborn genetic diseases [RCV003194245] Chr5:139393736 [GRCh38]
Chr5:138729425 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.1679C>T (p.Thr560Ile) single nucleotide variant Inborn genetic diseases [RCV003204618] Chr5:139393403 [GRCh38]
Chr5:138729092 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.643C>T (p.Arg215Trp) single nucleotide variant Inborn genetic diseases [RCV003206169] Chr5:139394439 [GRCh38]
Chr5:138730128 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.2156G>A (p.Arg719Lys) single nucleotide variant Inborn genetic diseases [RCV003181224] Chr5:139392926 [GRCh38]
Chr5:138728615 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.2384G>C (p.Gly795Ala) single nucleotide variant Inborn genetic diseases [RCV003216900] Chr5:139392698 [GRCh38]
Chr5:138728387 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.376G>A (p.Ala126Thr) single nucleotide variant Inborn genetic diseases [RCV003348026] Chr5:139394706 [GRCh38]
Chr5:138730395 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.521G>A (p.Arg174Gln) single nucleotide variant Inborn genetic diseases [RCV003376868] Chr5:139394561 [GRCh38]
Chr5:138730250 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.477G>C (p.Gln159His) single nucleotide variant Inborn genetic diseases [RCV003384982] Chr5:139394605 [GRCh38]
Chr5:138730294 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.406A>G (p.Thr136Ala) single nucleotide variant Inborn genetic diseases [RCV003367784] Chr5:139394676 [GRCh38]
Chr5:138730365 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001161546.2(PROB1):c.1143G>T (p.Ser381=) single nucleotide variant not provided [RCV003436455] Chr5:139393939 [GRCh38]
Chr5:138729628 [GRCh37]
Chr5:5q31.2
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1764
Count of miRNA genes:583
Interacting mature miRNAs:644
Transcripts:ENST00000302091, ENST00000450845, ENST00000451821, ENST00000507779, ENST00000509959, ENST00000512761, ENST00000514983
Prediction methods:Miranda, Rnahybrid
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.


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 40 39 213 26 558 26 223 93 197 121 538 157 6 59 1
Low 2393 2828 1504 589 1286 430 4114 2081 3519 298 921 1454 168 1 1203 2718 4 2
Below cutoff 5 122 9 9 104 9 19 22 16 1 2 1 11 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_194296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005271916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA399058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC135457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC050563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM785501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000302091   ⟹   ENSP00000302917
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5139,396,563 - 139,404,088 (-)Ensembl
RefSeq Acc Id: ENST00000450845   ⟹   ENSP00000414920
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5139,396,767 - 139,404,089 (-)Ensembl
RefSeq Acc Id: ENST00000451821   ⟹   ENSP00000400524
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5139,401,501 - 139,404,067 (-)Ensembl
RefSeq Acc Id: ENST00000507779   ⟹   ENSP00000423226
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5139,401,525 - 139,404,060 (-)Ensembl
RefSeq Acc Id: ENST00000509959   ⟹   ENSP00000424248
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5139,401,460 - 139,404,087 (-)Ensembl
RefSeq Acc Id: ENST00000512761   ⟹   ENSP00000426748
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5139,396,778 - 139,402,663 (-)Ensembl
RefSeq Acc Id: ENST00000514983   ⟹   ENSP00000423424
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5139,396,854 - 139,404,050 (-)Ensembl
RefSeq Acc Id: NM_194296   ⟹   NP_919272
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385139,396,767 - 139,404,089 (-)NCBI
GRCh375138,731,514 - 138,739,820 (-)NCBI
Celera5134,852,451 - 134,859,487 (-)RGD
HuRef5133,922,187 - 133,929,509 (-)ENTREZGENE
CHM1_15138,165,076 - 138,172,396 (-)NCBI
T2T-CHM13v2.05139,922,863 - 139,929,892 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005271916   ⟹   XP_005271973
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385139,392,500 - 139,404,089 (-)NCBI
GRCh375138,731,514 - 138,739,820 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011543252   ⟹   XP_011541554
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385139,392,500 - 139,404,089 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011543253   ⟹   XP_011541555
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385139,392,500 - 139,404,089 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011543254   ⟹   XP_011541556
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385139,397,278 - 139,404,089 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054351971   ⟹   XP_054207946
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05139,922,301 - 139,929,892 (-)NCBI
RefSeq Acc Id: XM_054351972   ⟹   XP_054207947
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05139,922,301 - 139,929,892 (-)NCBI
RefSeq Acc Id: XM_054351973   ⟹   XP_054207948
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05139,922,301 - 139,929,892 (-)NCBI
RefSeq Acc Id: XM_054351974   ⟹   XP_054207949
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05139,923,370 - 139,929,892 (-)NCBI
RefSeq Acc Id: NP_919272   ⟸   NM_194296
- UniProtKB: Q86W54 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005271973   ⟸   XM_005271916
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011541554   ⟸   XM_011543252
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011541555   ⟸   XM_011543253
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011541556   ⟸   XM_011543254
- Peptide Label: isoform X3
- UniProtKB: H0Y992 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000414920   ⟸   ENST00000450845
RefSeq Acc Id: ENSP00000400524   ⟸   ENST00000451821
RefSeq Acc Id: ENSP00000423226   ⟸   ENST00000507779
RefSeq Acc Id: ENSP00000424248   ⟸   ENST00000509959
RefSeq Acc Id: ENSP00000426748   ⟸   ENST00000512761
RefSeq Acc Id: ENSP00000302917   ⟸   ENST00000302091
RefSeq Acc Id: ENSP00000423424   ⟸   ENST00000514983
RefSeq Acc Id: XP_054207946   ⟸   XM_054351971
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054207947   ⟸   XM_054351972
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054207948   ⟸   XM_054351973
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054207949   ⟸   XM_054351974
- Peptide Label: isoform X3
- UniProtKB: H0Y992 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q86W54-F1-model_v2 AlphaFold Q86W54 1-205 view protein structure

Promoters
RGD ID:6870748
Promoter ID:EPDNEW_H8539
Type:initiation region
Name:SPATA24_1
Description:spermatogenesis associated 24
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385139,404,088 - 139,404,148EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:27322 AgrOrtholog
COSMIC SPATA24 COSMIC
Ensembl Genes ENSG00000170469 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000302091.9 UniProtKB/TrEMBL
  ENST00000450845 ENTREZGENE
  ENST00000450845.7 UniProtKB/Swiss-Prot
  ENST00000451821.6 UniProtKB/Swiss-Prot
  ENST00000507779.2 UniProtKB/TrEMBL
  ENST00000509959.5 UniProtKB/TrEMBL
  ENST00000512761.5 UniProtKB/TrEMBL
  ENST00000514983.5 UniProtKB/TrEMBL
GTEx ENSG00000170469 GTEx
HGNC ID HGNC:27322 ENTREZGENE
Human Proteome Map SPATA24 Human Proteome Map
InterPro SPATA24 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:202051 UniProtKB/Swiss-Prot
NCBI Gene 202051 ENTREZGENE
PANTHER PTHR35155 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SPERMATOGENESIS-ASSOCIATED PROTEIN 24 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam SPATA24 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA165660551 PharmGKB
UniProt D6R9Q3_HUMAN UniProtKB/TrEMBL
  D6RBC8_HUMAN UniProtKB/TrEMBL
  H0Y992 ENTREZGENE, UniProtKB/TrEMBL
  H0YAD3_HUMAN UniProtKB/TrEMBL
  Q86W54 ENTREZGENE
  Q8N799_HUMAN UniProtKB/TrEMBL
  SPA24_HUMAN UniProtKB/Swiss-Prot