UniProtKB - A1L4K1 (FSD2_HUMAN)
Protein
Fibronectin type III and SPRY domain-containing protein 2
Gene
FSD2
Organism
Homo sapiens (Human)
Status
Names & Taxonomyi
Protein namesi | Recommended name: Fibronectin type III and SPRY domain-containing protein 2Alternative name(s): SPRY domain-containing protein 1 |
Gene namesi | Name:FSD2 Synonyms:SPRYD1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000186628.12 |
HGNCi | HGNC:18024 FSD2 |
neXtProti | NX_A1L4K1 |
Subcellular locationi
Nucleus
- Nucleus By similarity
Other locations
- Sarcoplasmic reticulum By similarity
- perinuclear region By similarity
Note: In skeletal muscles and striated muscles flanks Z-disks. Partially colocalizes with RYR2 in the sarcoplasmic reticulum.By similarity
Endoplasmic reticulum
- sarcoplasmic reticulum Source: UniProtKB
Nucleus
- nucleus Source: UniProtKB
Other locations
- perinuclear region of cytoplasm Source: UniProtKB
Keywords - Cellular componenti
Cytoplasm, Nucleus, Sarcoplasmic reticulumPathology & Biotechi
Organism-specific databases
DisGeNETi | 123722 |
OpenTargetsi | ENSG00000186628 |
PharmGKBi | PA38279 |
Polymorphism and mutation databases
BioMutai | FSD2 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000317362 | 1 – 749 | Fibronectin type III and SPRY domain-containing protein 2Add BLAST | 749 |
Proteomic databases
PaxDbi | A1L4K1 |
PRIDEi | A1L4K1 |
ProteomicsDBi | 152 |
PTM databases
iPTMneti | A1L4K1 |
PhosphoSitePlusi | A1L4K1 |
Expressioni
Gene expression databases
Bgeei | ENSG00000186628 Expressed in 72 organ(s), highest expression level in muscle of leg |
ExpressionAtlasi | A1L4K1 baseline and differential |
Genevisiblei | A1L4K1 HS |
Interactioni
Subunit structurei
Interacts with CMYA5 (By similarity). In cardiac muscles, identified in a complex composed of FSD2, CMYA5 and RYR2 (By similarity).By similarity
Binary interactionsi
Protein-protein interaction databases
BioGridi | 125831, 60 interactors |
IntActi | A1L4K1, 95 interactors |
STRINGi | 9606.ENSP00000335651 |
Structurei
3D structure databases
ProteinModelPortali | A1L4K1 |
SMRi | A1L4K1 |
ModBasei | Search... |
MobiDBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 375 – 470 | Fibronectin type-III 1PROSITE-ProRule annotationAdd BLAST | 96 | |
Domaini | 471 – 564 | Fibronectin type-III 2PROSITE-ProRule annotationAdd BLAST | 94 | |
Domaini | 546 – 744 | B30.2/SPRYPROSITE-ProRule annotationAdd BLAST | 199 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 205 – 317 | Sequence analysisAdd BLAST | 113 |
Keywords - Domaini
Coiled coil, RepeatPhylogenomic databases
eggNOGi | KOG2177 Eukaryota ENOG4111G04 LUCA |
GeneTreei | ENSGT00940000158441 |
HOGENOMi | HOG000112658 |
HOVERGENi | HBG106607 |
InParanoidi | A1L4K1 |
OMAi | PSRHKYE |
PhylomeDBi | A1L4K1 |
TreeFami | TF315216 |
Family and domain databases
CDDi | cd00063 FN3, 2 hits |
Gene3Di | 2.60.40.10, 2 hits |
InterProi | View protein in InterPro IPR001870 B30.2/SPRY IPR003879 Butyrophylin_SPRY IPR013320 ConA-like_dom_sf IPR003961 FN3_dom IPR036116 FN3_sf IPR013783 Ig-like_fold IPR003877 SPRY_dom |
Pfami | View protein in Pfam PF00041 fn3, 1 hit PF00622 SPRY, 1 hit |
PRINTSi | PR01407 BUTYPHLNCDUF |
SMARTi | View protein in SMART SM00060 FN3, 2 hits SM00449 SPRY, 1 hit |
SUPFAMi | SSF49265 SSF49265, 1 hit SSF49899 SSF49899, 1 hit |
PROSITEi | View protein in PROSITE PS50188 B302_SPRY, 1 hit PS50853 FN3, 2 hits |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
Isoform 1 (identifier: A1L4K1-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
10 20 30 40 50
MEEESGEELG LDRSTPKDFH FYHMDLYDSE DRLHLFPEEN TRMRKVVQAE
60 70 80 90 100
MANESRGAGD GKAQRDLQEE VDELVHLYGL EDDHELGDEF VDENIPRTGV
110 120 130 140 150
SEYPPYMMKR RDPAREQRDW RLSGEAAEAE DLGFGGWGSA GQCQDLREAY
160 170 180 190 200
RYTHGRASEE YECYVIPEEE DEEEAADVFC VTCKTPIRAF QKVFDEHKEH
210 220 230 240 250
EVIPLNEALE SAKDEIHKNM YKLEKQIIEM ENFANHLEEV FITVEENFGK
260 270 280 290 300
QEQNFESHYN EILETLAQKY EEKIQALGEK KKEKLEALYG QLVSCGENLD
310 320 330 340 350
TCKELMETIE EMCHEEKVDF IKDAVAMADR LGKFLKTKTD VEISAQPEFE
360 370 380 390 400
DQTLDFSDVE QLMGSINTIP APSAPVINPQ VPNSATGSSV RVCWSLYSDD
410 420 430 440 450
TVESYQLSYR PVQDSSPGTD QAEFTVTVKE TYCSVTNLVP NTQYEFWVTA
460 470 480 490 500
HNRAGPSPSS ERAVYMTAPS PPIIKTKEIR SCEEAVLICW ESGNLNPVDS
510 520 530 540 550
YTVELTQAES PEASGVTESV VGIPTCESVV QLQPGRSYII YVRALNMGGP
560 570 580 590 600
SVRSEPATVH TIGSYFRLNK DTCHPWLTIS EDGLTAVRSE RRTPARELSP
610 620 630 640 650
SDTHFTRCVA VMGNLIPVRG HHYWEVEVDE HLDYRVGVAF ADVRKQEDLG
660 670 680 690 700
ANCLSWCMRH TFASSRHKYE FLHNRTTPDI RITVPPKKIG ILLDYEHSKL
710 720 730 740
SFFNVDLSQH LYTFSCQLHE FVHPCFSLEK PGCLKVHNGI SMPKHVTFY
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketH0YLA8 | H0YLA8_HUMAN | Fibronectin type III and SPRY domai... | FSD2 | 101 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_051001 | 333 | K → T. Corresponds to variant dbSNP:rs4779061Ensembl. | 1 | |
Natural variantiVAR_051002 | 720 | E → K. Corresponds to variant dbSNP:rs1108134Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_054600 | 423 – 467 | Missing in isoform 2. 1 PublicationAdd BLAST | 45 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK122875 mRNA Translation: BAG53773.1 AC044907 Genomic DNA No translation available. AC105339 Genomic DNA No translation available. BC130569 mRNA Translation: AAI30570.1 BC144175 mRNA Translation: AAI44176.1 |
CCDSi | CCDS45332.1 [A1L4K1-1] CCDS61738.1 [A1L4K1-2] |
RefSeqi | NP_001007123.1, NM_001007122.3 [A1L4K1-1] NP_001268734.1, NM_001281805.1 [A1L4K1-2] NP_001268735.1, NM_001281806.1 [A1L4K1-2] XP_005272482.1, XM_005272425.4 [A1L4K1-1] |
UniGenei | Hs.719372 |
Genome annotation databases
Ensembli | ENST00000334574; ENSP00000335651; ENSG00000186628 [A1L4K1-1] ENST00000541889; ENSP00000444078; ENSG00000186628 [A1L4K1-2] |
GeneIDi | 123722 |
KEGGi | hsa:123722 |
UCSCi | uc002bjd.4 human [A1L4K1-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK122875 mRNA Translation: BAG53773.1 AC044907 Genomic DNA No translation available. AC105339 Genomic DNA No translation available. BC130569 mRNA Translation: AAI30570.1 BC144175 mRNA Translation: AAI44176.1 |
CCDSi | CCDS45332.1 [A1L4K1-1] CCDS61738.1 [A1L4K1-2] |
RefSeqi | NP_001007123.1, NM_001007122.3 [A1L4K1-1] NP_001268734.1, NM_001281805.1 [A1L4K1-2] NP_001268735.1, NM_001281806.1 [A1L4K1-2] XP_005272482.1, XM_005272425.4 [A1L4K1-1] |
UniGenei | Hs.719372 |
3D structure databases
ProteinModelPortali | A1L4K1 |
SMRi | A1L4K1 |
ModBasei | Search... |
MobiDBi | Search... |
Protein-protein interaction databases
BioGridi | 125831, 60 interactors |
IntActi | A1L4K1, 95 interactors |
STRINGi | 9606.ENSP00000335651 |
PTM databases
iPTMneti | A1L4K1 |
PhosphoSitePlusi | A1L4K1 |
Polymorphism and mutation databases
BioMutai | FSD2 |
Proteomic databases
PaxDbi | A1L4K1 |
PRIDEi | A1L4K1 |
ProteomicsDBi | 152 |
Protocols and materials databases
DNASUi | 123722 |
Structural Biology Knowledgebase | Search... |
Genome annotation databases
Ensembli | ENST00000334574; ENSP00000335651; ENSG00000186628 [A1L4K1-1] ENST00000541889; ENSP00000444078; ENSG00000186628 [A1L4K1-2] |
GeneIDi | 123722 |
KEGGi | hsa:123722 |
UCSCi | uc002bjd.4 human [A1L4K1-1] |
Organism-specific databases
CTDi | 123722 |
DisGeNETi | 123722 |
EuPathDBi | HostDB:ENSG00000186628.12 |
GeneCardsi | FSD2 |
HGNCi | HGNC:18024 FSD2 |
neXtProti | NX_A1L4K1 |
OpenTargetsi | ENSG00000186628 |
PharmGKBi | PA38279 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2177 Eukaryota ENOG4111G04 LUCA |
GeneTreei | ENSGT00940000158441 |
HOGENOMi | HOG000112658 |
HOVERGENi | HBG106607 |
InParanoidi | A1L4K1 |
OMAi | PSRHKYE |
PhylomeDBi | A1L4K1 |
TreeFami | TF315216 |
Miscellaneous databases
GenomeRNAii | 123722 |
PROi | PR:A1L4K1 |
Gene expression databases
Bgeei | ENSG00000186628 Expressed in 72 organ(s), highest expression level in muscle of leg |
ExpressionAtlasi | A1L4K1 baseline and differential |
Genevisiblei | A1L4K1 HS |
Family and domain databases
CDDi | cd00063 FN3, 2 hits |
Gene3Di | 2.60.40.10, 2 hits |
InterProi | View protein in InterPro IPR001870 B30.2/SPRY IPR003879 Butyrophylin_SPRY IPR013320 ConA-like_dom_sf IPR003961 FN3_dom IPR036116 FN3_sf IPR013783 Ig-like_fold IPR003877 SPRY_dom |
Pfami | View protein in Pfam PF00041 fn3, 1 hit PF00622 SPRY, 1 hit |
PRINTSi | PR01407 BUTYPHLNCDUF |
SMARTi | View protein in SMART SM00060 FN3, 2 hits SM00449 SPRY, 1 hit |
SUPFAMi | SSF49265 SSF49265, 1 hit SSF49899 SSF49899, 1 hit |
PROSITEi | View protein in PROSITE PS50188 B302_SPRY, 1 hit PS50853 FN3, 2 hits |
ProtoNeti | Search... |
Entry informationi
Entry namei | FSD2_HUMAN | |
Accessioni | A1L4K1Primary (citable) accession number: A1L4K1 Secondary accession number(s): B3KVG1, B7ZM02 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 5, 2008 |
Last sequence update: | February 6, 2007 | |
Last modified: | February 13, 2019 | |
This is version 98 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Complete proteome, Reference proteomeDocuments
- Human chromosome 15
Human chromosome 15: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations