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SPIN4 Gene

protein-coding GIFtS: 45
GCID: GC0XM062569

Spindlin Family, Member 4

See SPIN4-related disease
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
Spindlin Family, Member 4¹ ²
spindlin-4²

External Ids:	HGNC: 27040¹	Entrez Gene: 139886²	Ensembl: ENSG00000186767⁷	UniProtKB: Q56A73³

Export aliases for SPIN4 gene to outside databases

Previous GC identifers: GC0XM062484 GC0XM062568 GC0XM056393

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for SPIN4 Gene:

SPIN4 (spindlin family, member 4) is a protein-coding gene. Diseases associated with SPIN4 include cysticercosis. An important paralog of this gene is SPIN2B.

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence at NCBI GenBank:

NC_000023.10 NC_018934.2 NT_011651.18

Regulatory elements:

Regulatory transcription factor binding sites in the SPIN4 gene promoter:
MAZR ATF-2 MIF-1 Evi-1 E47 HNF-1A NRF-2 HNF-1 ZID NF-kappaB1
Other transcription factors

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Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SPIN4

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq11.1 Ensembl cytogenetic band: Xq11.1 HGNC cytogenetic band: Xq11.1

SPIN4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPIN4 gene location

GeneLoc information about chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XM062569: view genomic region (about GC identifiers)

Start:	62,567,107 bp from pter	End:	62,571,223 bp from pter
Size:	4,117 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
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About This Section

UniProtKB/Swiss-Prot: SPIN4_HUMAN, Q56A73 (See protein sequence)

Recommended Name: Spindlin-4

Size: 249 amino acids; 28660 Da

Sequence caution: Sequence=CAI41371.1; Type=Erroneous initiation;

Secondary accessions: Q5JUL2

Explore the universe of human proteins at neXtProt for SPIN4: NX_Q56A73

Explore proteomics data for SPIN4 at MOPED

Post-translational modifications:

Ubiquitination² at Lys50

Modification sites at PhosphoSitePlus

See SPIN4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001012986.2

ENSEMBL proteins:

ENSP00000364018 ENSP00000334163

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
About This Section

1 InterPro protein domain:

IPR003671 Spin_Ssty

Graphical View of Domain Structure for InterPro Entry Q56A73

ProtoNet protein and cluster: Q56A73

1 Blocks protein domain: IPB003671 Spindlin/spermiogenesis-specific protein

UniProtKB/Swiss-Prot: SPIN4_HUMAN, Q56A73

Similarity: Belongs to the SPIN/STSY family

Find genes that share domains with SPIN4 About GenesLikeMe

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

Animal Models:

genOway: Develop your customized and physiologically relevant rodent model for SPIN4

miRNA Products:		miRTarBase miRNAs that target SPIN4: hsa-mir-24-3p (MIRT030544), hsa-mir-29c-3p (MIRT020392), hsa-mir-192-5p (MIRT026613), hsa-mir-340-5p (MIRT019605), hsa-mir-96-5p (MIRT027915)

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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
mitochondrion	2
nucleus	2
cytosol	1

About this image

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GenesLikeMe, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

Custom Pathway & Disease-focused RT² Profiler PCR Arrays for SPIN4
Interactions:

Search GeneGlobe Interaction Network for SPIN4

STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

2 Interacting proteins for SPIN4 (ENSP00000334163⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
UBC	ENSP00000344818⁴	STRING: ENSP00000344818
ELAVL1	ENSP00000385269⁴	STRING: ENSP00000385269

About this table

Gene Ontology (GO): 1 biological process term: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007276	gamete generation	IEA	--

Find genes that share ontologies with SPIN4 About GenesLikeMe

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
About This Section

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(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
About This Section

REFSEQ mRNAs for SPIN4 gene:

NM_001012968.2

Unigene Cluster for SPIN4:

Spindlin family, member 4

Hs.612782 [show with all ESTs]

Unigene Representative Sequence: AL833314

2 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000374884 ENST00000335144(uc004dvf.3)

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Additional mRNA sequence:

AK021705.1 AK126931.1 AL833314.1 BC035088.1 BC043412.1 BC112360.1

2 DOTS entries:

DT.108130 DT.100746759

Selected AceView cDNA sequences (see all 40):

AK126931 AL135659 BX282201 BG059887 BC043412 BU069192 AL833314 BM144682

BQ424587 BM667539 AA598803 BC035088 BE042460 BG023952 AK021705 CB114607

AI471422 BI491676 AA776212 BI549232 AU118795 BU688875 BU158675 BE042498

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SPIN4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: AGTGGATTTT

About this image

SPIN4 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

SPIN4 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.612782

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for SPIN4 gene from Selected species (see all 7) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Spin4^{1 , 5}	spindlin family, member 4^{1, 5}	88.62(n)¹ 95.98(a)¹		X (41.83 cM)⁵ 270624¹ NM_178753.4¹ NP_848868.1¹ 95022510⁵
zebrafish (Danio rerio)	Actinopterygii	SPIN4 (3 of 3)⁶ CABZ01112877.1⁶ (see all 3)	Uncharacterized protein (see all 3)	68(a) 54(a) (see all 3)	1 ↔ many 1 ↔ many (see all 3)	10(2595456-2607514) ENSDARG00000058949 2(55803426-55814829) ENSDARG00000001817

ENSEMBL Gene Tree for SPIN4 (if available)
TreeFam Gene Tree for SPIN4 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
About This Section

Paralogs for SPIN4 gene

SPIN2B² SPIN2A² SPIN1² SPIN3²

4 SIMAP similar genes for SPIN4 using alignment to 1 protein entry: SPIN4_HUMAN:

SPIN2A SPIN3 SPIN1 SPIN2B

Find genes that share paralogs with SPIN4 About GenesLikeMe

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
About This Section

SNP ID	Valid	Clinical significance	Chr X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs142658517^1,2		--	62566626(+)	`GGAGTA/GGTAAA`	1	--	ds500¹		0	--	--	--	--
rs189648592^1,2		--	62566766(+)	`CATCAC/TTCATG`	1	--	ds500¹		0	--	--	--	--
rs181249499^1,2		--	62567360(+)	`GTCATC/TAGGAT`	1	--	ut3¹		0	--	--	--	--
rs186348587^1,2		--	62567368(+)	`GATTAG/TATTGT`	1	--	ut3¹		0	--	--	--	--
rs150990347^1,2	C	--	62567389(+)	`GTCCTA/GGCTAA`	1	--	ut3¹		0	--	--	--	--
rs189594305^1,2		--	62567552(+)	`TACTTG/TGGAAT`	1	--	ut3¹		0	--	--	--	--
rs139546496^1,2	C	--	62567735(+)	`ACAATC/TTTATC`	1	--	ut3¹		0	--	--	--	--
rs143309680^1,2	C	--	62567877(+)	`AATAGA/GGAATA`	1	--	ut3¹		0	--	--	--	--
rs73522538^1,2	C,F	--	62567892(+)	`TCCCTG/ATTAAT`	1	--	ut3¹		1		WA	2
rs181706942^1,2		--	62567941(+)	`CAGTCA/CCGTCT`	1	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for SPIN4 (62567107 - 62571223 bp)

Structural Variations
Database of Genomic Variants (DGV) 1 variation for SPIN4: About this table

Variant ID	Type	Subtype	PubMed ID
esv1584074	OTHER	Inversion	17803354

Site Specific Mutation Identification with PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB, Sets of similar genes according to GenesLikeMe)
About This Section

1 disease for SPIN4:
About MalaCards

cysticercosis

2 inferred disease relationships from the University of Copenhagen DISEASES database for SPIN4:

Cysticercosis Eclampsia

Find genes that share disorders with SPIN4 About GenesLikeMe

Export disorders for SPIN4 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for SPIN4 gene integrated from 10 sources:
(articles sorted by number of sources associating them with SPIN4)

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)^{1, 3} Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)¹ Kim W....Gygi S.P. (Mol. Cell 2011)
Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)¹ Danielsen J.M....Nielsen M.L. (amp 2011)
A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)¹ Wagner S.A....Choudhary C. (amp 2011)
Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)¹ Abdelmohsen K....Gorospe M. (EMBO J. 2009)
The DNA sequence of the human X chromosome. (PubMed id 15772651)² Ross M.T.... Bentley D.R. (Nature 2005)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)² Gerhard D.S.... Malek J. (Genome Res. 2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)¹ Ota T.... Sugano S. (Nat. Genet. 2004)
The sequence of the human genome. (PubMed id 11181995)¹ Venter J.C.... Zhu X. (Science 2001)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 139886	HGNC: 27040	AceView: LOC139886	Ensembl:ENSG00000186767	euGenes: HUgn139886
ECgene: SPIN4	H-InvDB: SPIN4

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for SPIN4	Pharmacogenomics, SNPs, Pathways

Intellectual Property for SPIN4 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for SPIN4 gene:
Search GeneIP for patents involving SPIN4

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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Advanced Cell Diagnostics, Animal models from genOway)
About This Section


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GeneCards Home - Full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 2 Nov 2014 , 8 Jan 2015 , 3 Feb 2015

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Hot genes Disease genes SPIN4 gene at Home site.

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SPIN4 Gene

Spindlin Family, Member 4

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GeneCards Suite

Advanced Search

Export list of displayed genes

SPIN4 Gene

Spindlin Family, Member 4

Aliasesfor SPIN4 gene

Summariesfor SPIN4 gene

Genomic Viewsfor SPIN4 gene

Proteinsfor SPIN4 gene

SPIN4 Human Recombinant Protein Products:

SPIN4 Antibody Products:

SPIN4 Assay Products:

Domains /Familiesfor SPIN4 gene

Functionfor SPIN4 gene

Localizationfor SPIN4 gene

Pathways & Interactionsfor SPIN4 gene

Drugs & Compoundsfor SPIN4 gene

Transcriptsfor SPIN4 gene

Expression for SPIN4 gene

Orthologsfor SPIN4 gene

Paralogsfor SPIN4 gene

Genomic Variantsfor SPIN4 gene

Disorders / Diseasesfor SPIN4 gene

Publicationsfor SPIN4 gene

External Searches for SPIN4 gene

Genome Databases showing SPIN4 gene

Other Databases showing SPIN4 gene

Specialized Databases showing SPIN4 gene

Intellectual Propertyfor SPIN4 gene

Productsfor SPIN4 gene

View Random Gene

Aliases
for SPIN4 gene

Summaries
for SPIN4 gene

Genomic Views
for SPIN4 gene

Proteins
for SPIN4 gene

Domains /
Families
for SPIN4 gene

Function
for SPIN4 gene

Localization
for SPIN4 gene

Pathways & Interactions
for SPIN4 gene

Drugs & Compounds
for SPIN4 gene

Transcripts
for SPIN4 gene

Expression
for SPIN4 gene

Orthologs
for SPIN4 gene

Paralogs
for SPIN4 gene

Genomic Variants
for SPIN4 gene

Disorders / Diseases
for SPIN4 gene

Publications
for SPIN4 gene

Intellectual Property
for SPIN4 gene

Products
for SPIN4 gene