SPMIP7 (sperm microtubule inner protein 7) - Rat Genome Database

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Gene: SPMIP7 (sperm microtubule inner protein 7) Homo sapiens
Analyze
Symbol: SPMIP7
Name: sperm microtubule inner protein 7
RGD ID: 2902413
HGNC Page HGNC:22564
Description: Predicted to be involved in spermatogenesis; INTERACTS WITH arsane; arsenic atom; valproic acid.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C7orf72; chromosome 7 open reading frame 72; hypothetical protein LOC100130988; SPATA48; spermatogenesis associated 48; spermatogenesis-associated protein 48; uncharacterized protein C7orf72
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
GRCh38750,095,883 - 50,159,256 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl750,095,883 - 50,159,256 (+)EnsemblGRCh38hg38GRCh38
GRCh37750,135,479 - 50,198,852 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36750,106,348 - 50,169,398 (+)NCBINCBI36Build 36hg18NCBI36
Celera750,229,773 - 50,293,484 (+)NCBICelera
Cytogenetic Map7p12.2NCBI
HuRef750,016,509 - 50,079,746 (+)NCBIHuRef
CHM1_1750,137,668 - 50,201,160 (+)NCBICHM1_1
T2T-CHM13v2.0750,257,048 - 50,320,459 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2750,172,871 - 50,236,064 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
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:12690205   PMID:12853948   PMID:20379614   PMID:21873635   PMID:22110678   PMID:29700843   PMID:30021884   PMID:37327785  


Genomics

Comparative Map Data
SPMIP7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38750,095,883 - 50,159,256 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl750,095,883 - 50,159,256 (+)EnsemblGRCh38hg38GRCh38
GRCh37750,135,479 - 50,198,852 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36750,106,348 - 50,169,398 (+)NCBINCBI36Build 36hg18NCBI36
Celera750,229,773 - 50,293,484 (+)NCBICelera
Cytogenetic Map7p12.2NCBI
HuRef750,016,509 - 50,079,746 (+)NCBIHuRef
CHM1_1750,137,668 - 50,201,160 (+)NCBICHM1_1
T2T-CHM13v2.0750,257,048 - 50,320,459 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2750,172,871 - 50,236,064 (+)NCBI
Spmip7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391111,412,089 - 11,465,658 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1111,412,094 - 11,465,192 (+)EnsemblGRCm39 Ensembl
GRCm381111,463,744 - 11,515,192 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1111,462,094 - 11,515,192 (+)EnsemblGRCm38mm10GRCm38
MGSCv371111,389,269 - 11,415,193 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361111,389,269 - 11,415,193 (+)NCBIMGSCv36mm8
Celera1111,948,754 - 11,974,675 (+)NCBICelera
Cytogenetic Map11A1NCBI
cM Map116.93NCBI
Spmip7
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81490,244,087 - 90,299,294 (+)NCBIGRCr8
mRatBN7.21486,030,427 - 86,085,644 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1486,030,655 - 86,085,644 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1490,441,207 - 90,496,323 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01491,685,967 - 91,741,070 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01488,153,160 - 88,208,245 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01491,556,782 - 91,614,099 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1491,557,601 - 91,613,540 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01491,344,025 - 91,399,177 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41492,358,993 - 92,383,442 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11492,373,932 - 92,402,586 (+)NCBI
Celera1485,066,567 - 85,091,002 (+)NCBICelera
Cytogenetic Map14q21NCBI
Spmip7
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554563,845,811 - 3,885,592 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554563,845,875 - 3,885,908 (-)NCBIChiLan1.0ChiLan1.0
SPMIP7
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2654,974,211 - 55,040,496 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan17103,298,934 - 103,365,219 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0750,738,047 - 50,802,041 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1750,984,468 - 51,046,970 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl750,984,231 - 51,047,029 (+)Ensemblpanpan1.1panPan2
SPMIP7
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1181,591,336 - 1,652,140 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha181,453,660 - 1,517,130 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0181,519,619 - 1,583,103 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl181,520,878 - 1,580,617 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1181,494,091 - 1,557,561 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0181,491,000 - 1,554,464 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0181,627,204 - 1,690,691 (+)NCBIUU_Cfam_GSD_1.0
Spmip7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118104,781,206 - 104,843,303 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366861,680,341 - 1,742,287 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366861,679,572 - 1,744,008 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SPMIP7
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl9136,188,608 - 136,235,985 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.19136,189,235 - 136,224,000 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.29149,715,727 - 149,763,088 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SPMIP7
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1218,646,498 - 8,710,205 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl218,646,586 - 8,709,554 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606213,567,473 - 13,630,525 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Spmip7
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247403,986,556 - 4,027,580 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247403,986,528 - 4,029,876 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SPMIP7
9 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3 copy number gain See cases [RCV000053532] Chr7:33328312..62377476 [GRCh38]
Chr7:33367924..61831899 [GRCh37]
Chr7:33334449..61469334 [NCBI36]
Chr7:7p14.3-q11.21
pathogenic
NM_001161834.2(C7orf72):c.554-3299C>A single nucleotide variant Lung cancer [RCV000106089] Chr7:50101015 [GRCh38]
Chr7:50140611 [GRCh37]
Chr7:7p12.2
uncertain significance
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p13-12.1(chr7:44571949-53699760)x1 copy number loss See cases [RCV000134973] Chr7:44571949..53699760 [GRCh38]
Chr7:44611548..53767453 [GRCh37]
Chr7:44578073..53734947 [NCBI36]
Chr7:7p13-12.1
pathogenic
GRCh38/hg38 7p12.2(chr7:49669048-50360016)x3 copy number gain See cases [RCV000134942] Chr7:49669048..50360016 [GRCh38]
Chr7:49708644..50427714 [GRCh37]
Chr7:49679190..50395208 [NCBI36]
Chr7:7p12.2
likely benign
GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1 copy number loss See cases [RCV000136092] Chr7:40534157..56107122 [GRCh38]
Chr7:40573756..56174815 [GRCh37]
Chr7:40540281..56142309 [NCBI36]
Chr7:7p14.1-11.2
pathogenic
GRCh38/hg38 7p14.1-12.1(chr7:40020598-50543500)x1 copy number loss See cases [RCV000136904] Chr7:40020598..50543500 [GRCh38]
Chr7:40060197..50611198 [GRCh37]
Chr7:40026722..50578692 [NCBI36]
Chr7:7p14.1-12.1
pathogenic
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3 copy number gain See cases [RCV000512091] Chr7:11048840..52863626 [GRCh37]
Chr7:7p21.3-12.1
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p12.2(chr7:49696109-50457187)x3 copy number gain See cases [RCV000511663] Chr7:49696109..50457187 [GRCh37]
Chr7:7p12.2
uncertain significance
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Childhood apraxia of speech [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p13-12.2(chr7:43341583-50171623) copy number loss Intracranial hemorrhage [RCV001352658] Chr7:43341583..50171623 [GRCh37]
Chr7:7p13-12.2
pathogenic
GRCh37/hg19 7p14.1-12.2(chr7:40778439-50228656) copy number loss not specified [RCV002053688] Chr7:40778439..50228656 [GRCh37]
Chr7:7p14.1-12.2
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:374
Count of miRNA genes:328
Interacting mature miRNAs:347
Transcripts:ENST00000297001
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.


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 adipose tissue appendage
High
Medium 20 94
Low 1 98 146 227 1 269 3
Below cutoff 156 286 262 24 368 13 205 138 1852 16 100 117 11 64 125

Sequence


RefSeq Acc Id: ENST00000297001   ⟹   ENSP00000297001
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl750,095,883 - 50,159,256 (+)Ensembl
RefSeq Acc Id: NM_001161834   ⟹   NP_001155306
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38750,095,883 - 50,159,256 (+)NCBI
GRCh37750,135,682 - 50,198,852 (+)ENTREZGENE
Celera750,229,773 - 50,293,484 (+)RGD
HuRef750,016,509 - 50,079,746 (+)ENTREZGENE
CHM1_1750,137,668 - 50,201,160 (+)NCBI
T2T-CHM13v2.0750,257,048 - 50,320,459 (+)NCBI
CRA_TCAGchr7v2750,172,871 - 50,236,064 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: XM_011515052   ⟹   XP_011513354
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38750,095,883 - 50,159,256 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011515053   ⟹   XP_011513355
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38750,095,883 - 50,139,861 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054356940   ⟹   XP_054212915
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0750,257,048 - 50,320,459 (+)NCBI
RefSeq Acc Id: XM_054356941   ⟹   XP_054212916
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0750,257,048 - 50,301,023 (+)NCBI
RefSeq Acc Id: NP_001155306   ⟸   NM_001161834
- UniProtKB: A4D263 (UniProtKB/Swiss-Prot),   A6NDX9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011513354   ⟸   XM_011515052
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011513355   ⟸   XM_011515053
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000297001   ⟸   ENST00000297001
RefSeq Acc Id: XP_054212915   ⟸   XM_054356940
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054212916   ⟸   XM_054356941
- Peptide Label: isoform X2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A4D263-F1-model_v2 AlphaFold A4D263 1-438 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:22564 AgrOrtholog
COSMIC SPMIP7 COSMIC
Ensembl Genes ENSG00000164500 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000297001 ENTREZGENE
  ENST00000297001.7 UniProtKB/Swiss-Prot
GTEx ENSG00000164500 GTEx
HGNC ID HGNC:22564 ENTREZGENE
Human Proteome Map SPMIP7 Human Proteome Map
InterPro SPATA48 UniProtKB/Swiss-Prot
NCBI Gene 100130988 ENTREZGENE
PANTHER PTHR34759 UniProtKB/Swiss-Prot
  SPERMATOGENESIS-ASSOCIATED PROTEIN 48 UniProtKB/Swiss-Prot
Pfam SPATA48 UniProtKB/Swiss-Prot
PharmGKB PA165617678 PharmGKB
UniProt A4D263 ENTREZGENE
  A6NDX9 ENTREZGENE
  SPT48_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A6NDX9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2023-05-01 SPMIP7  sperm microtubule inner protein 7  SPATA48  spermatogenesis associated 48  Symbol and/or name change 19259463 PROVISIONAL
2017-08-15 SPATA48  spermatogenesis associated 48  C7orf72  chromosome 7 open reading frame 72  Symbol and/or name change 5135510 APPROVED