Gene Gene information from NCBI Gene database.
Entrez ID 401024
Gene name Fibrous sheath interacting protein 2
Gene symbol FSIP2
Synonyms (NCBI Gene)
SPGF34
Chromosome 2
Chromosome location 2q32.1
Summary This gene encodes a protein associated with the sperm fibrous sheath. Genes encoding most of the fibrous-sheath associated proteins genes are transcribed only during the postmeiotic period of spermatogenesis. The protein encoded by this gene is specific t
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs773975635 C>- Pathogenic Coding sequence variant, frameshift variant
rs1559034750 AATA>- Pathogenic Frameshift variant, intron variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
128
miRTarBase ID miRNA Experiments Reference
MIRT636836 hsa-miR-4789-3p HITS-CLIP 23824327
MIRT636834 hsa-miR-4643 HITS-CLIP 23824327
MIRT636833 hsa-miR-208a-5p HITS-CLIP 23824327
MIRT636832 hsa-miR-208b-5p HITS-CLIP 23824327
MIRT636831 hsa-miR-586 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
GO ID Ontology Definition Evidence Reference
GO:0007288 Process Sperm axoneme assembly IMP 30137358, 30745215
GO:0030317 Process Flagellated sperm motility IMP 30745215
GO:0061512 Process Protein localization to cilium IMP 30137358
GO:0061512 Process Protein localization to cilium IMP 30745215
GO:0097225 Component Sperm midpiece IDA 30745215
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615796 21675 ENSG00000188738
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5CZC0
Protein name Fibrous sheath-interacting protein 2
Protein function Plays a role in spermatogenesis.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15783 FSIP2 4063 4611 Fibrous sheath-interacting protein 2 Family
PF15783 FSIP2 4705 4927 Fibrous sheath-interacting protein 2 Family
PF15783 FSIP2 4877 5252 Fibrous sheath-interacting protein 2 Family
PF15783 FSIP2 5097 5422 Fibrous sheath-interacting protein 2 Family
PF15783 FSIP2 5901 6774 Fibrous sheath-interacting protein 2 Family
Tissue specificity TISSUE SPECIFICITY: Predominantly expressed in testis. {ECO:0000269|PubMed:30137358}.
Sequence
MELYLGACSKPAKVAVTKTVASVLAADTQQCRDGVHKTHFAGVGPAQLLDLPLGVKLPVI
PGSNAVFYTTNFGEKLFRPSYGFNLTDPYCRLLENQYKSLHDPHLKAYYKRKDILKRLKK
GGYITSNNKVVCTLRELNKYRQYLTSLKLDFERNYIKEQRILAKQLHNIPENNQIPQHCD
VAQVQNWLLKEGTESIKDQERLMRHRYLDMISRKLEQLERTAEEQRLFLMDREERRQREH
TRRKLTLRRKIEEEWKTKEMLLLTRMAEDVKREERIEEQQHRNREESDRKKQDLLEKKMA
YHLQKMQDTGFNGEDIGKNTFKYRGQDGTHASPKNKKKTSEDIMLVYPAGDQNTYKETHG
HTANAAHQRQNSSNNFTKKNSASVVYQADVQDNGINQKRDGMVSKNSSIFDDRGGINISG
QGSIISAQVSPTRNFSRVSQAFLDPSKEEKETNADWDGRPTKRSSYLCESGPQAHATDPG
IFSSPVYTNMQQNLLQNCLQEKVTSEELNIIIQNVMTWVVATVTSILYPAITKYEKRLQN
NTYPVSDDSILSSDSSSFCSTCSEDFTYRSYTSATTKTFQAEPCAFVVDTSVRRPTTPIK
PPPAHVEKTVVGKTCHIKGQSIISKHKYNKTNLLYSYPKLRSCKSDSHLLASFETGTKKS
KDATTETDSLGSSLHCDKTAKAMDEMKNLKNVFVNFKCYLKGETEVILESILREIMSDLT
QAIPSLSSVTAEVFVEQCEREKEILLSNAHIPSVASEIVENMLEKLESAVEKKCVEMFSQ
DLSVDIKPSLAASDELLTSSNGKPLKNSMPHTLDPMCDIAEDMVHAILEKLMTLVSFKQN
EFLHLKDTNKLSCQQHKTDPICMFLQRAGKNKSSLESDEASLIVNEEVQNLISNIFSQSS
LVAYIEEAINAILGYIQTELNNERIIASEETVVLLQLLEDILFQLHQEPVNESFQKSRQP
RISSPSDTKEKYRLTGTRLSNSPRSGRPFPPINVPGMVLYSDDENEEIDNIVKNVLDSTF
KDEKVKSQEQIPNHWFTKGNTCFECKRNIKPPTKPGSRSKAAFHDWELKTEPPSTNHEDI
LKKKLSSNKDISTFSQDQKHQIEKASENIVTSILKEMLKDISSVPFGHLDSKTGSEASVL
VSEKPQGLSHQEWIDQMFSVSEISTVAQEITDSVLNILHKASNYISNTTKSSISSSVHQI
SLHNSDTEHIVKEAPNKYPLKTWFDSEKKMKYLSLFDVDPEKPPWLKSGKSEPKPVDDIN
DKIIRTIFKRLKSFICPKLHMGFKSSLRSQLSKYTAKIVNIVLCAIQNELELHKENLNLR
EIDHTKSLTDKGFFANTDKKLESLVTSIDDDILASPLLTCIYDMLLSSENAHQRSISLSS
RKPKSATDSVDVQSILPNRQDKKSFHKYLATPCTHHSVNGGNHIKENAKLQVLERIGETL
HEMLSKLLGTHLHSQLSCSQQSREMTNKNQKMAAALQSNIQLISKAILDYILAKLCGVDM
DTSFASCGLKAISESLDIDNPSFASIIEKMAKSTKIISSIVSRRVQEDNKEETKSKAKPV
APVSSKTPSTKEMHPNKLKAVASDILNMVFAKLEGFANGHLEILGAINDGNKKSNKIGWE
YESTNISRDTHEASFLSALYMHAKKVSSAILKVIQTELNVTSSDLKTSVENPPPETQILK
YVVKLILDAVSSDMFNEMESEGGGIETYRYRPTYGSLPGGAESDSFLEDDAYTAKKIIDE
RSPQREEVKTRSLKQWALEKTLNKIEVKLKEPHISPIAPIIRNILNEIFQSTLINQLNVL
SLSHSNFNGMPHNVDEPTPQTSVQFMDKMMDPLLSEADITIVTDNIVRTVFHKLYSAAMT
ERNVRENRYKTITFSANVSSHEHTYKGKSSVTALDENPCTFQSRFSVADKETKVNLAEDI
VQAILTNLETFATSKVKSLFYSQVNFTVPVALPIQQDHSTLSKALSAKDSYSDEQFSCCS
VDHTKSGKTNLCQLSLSKLNTYALQVARRNLQGIKQELDKERENPFLTHDIGISESIASQ
IVNALLDIISRKGKCDKNSSDKEIDLDQQKGVIEKLLNETKYRKVLQLQIQDTIEGILCD
IYEKTLFQNNLSFATPTLKCSIADKHSEENSEMFMEGANKIIPKLSVPKSDVILISNDIV
NIVLHNLSSAATLVINAKNPTSARLPLTFCDTFPKIDCQQPLKGSKTERKTERFSYSRNQ
KSAYADDNQITVVEKEDTQKSATDSCEENANFITKTIFKRLESFATERIDSLITLAFQSK
EKSFVIPELENCKQNDSIFYDSSQVESDVNVLKISATETILSQELTDFTFVGRREKLGST
IHLSQARLKTYADVIASAILKLIKNDLDLEIQKIYPYQNNILFQENIIVSEIVDSMLKML
DDKRSVKEICFNSKENSNFSQLALSNEILLGHKEKERSTKQSLFTKYPLEQNQMILENKR
QIIVLEEIFMRNGESKNKEKGELLIAVEELLNKLYQRVREVTGHLPPLNETANFISNSKI
KTSDTTQKNSFQSHINSVANDIVESVLGKMYLVVVTSLYENNKSRTEVEISDHNDSLLMK
PLRFRETKQAGKISNSPRYAISQAYSYVDSQNISVMENTLLPYLPLQVKKDLIQMVLNKI
TNFVSLPLKVSPKDNPKPCFKAHLKTRSKITTLPKFTKKTHLGLSAAKAKSKTKLGPGEK
TLKDSRSKTAIGLSHIMSAGDAKNLLDTKLPTSELKIYAKDIIINILETIVKEFGKVKQT
KALPSDQIIAAGKIVNTVLQELYVTNNCNLAYPMKSSHLRLSQGNIGTGSLPKQQACFYL
ENVSSQLEHIFPREGIFKKLFDKWQTESNDKENEKCKLLMIAENVLTEISIKAKELEYSL
SLLNLPPLENCESRFYNHFKGASTRAEDTKAQINMFGREIVEMLLEKLQLCFLSQIPTPD
SEETLSNSKEHITAKSKYGFPNKHSLSSLPIYNTKTKDQISVGSSNQIVQEIVETVLNML
ESFVDLQFKHISKYEFSEIVKMPIENLSSIQQKLLNKKMLPKLQPLKMFSDKSESNTINF
KENIQNILLRVHSFHSQLLTYAVNIISDMLAVIKNKLDNEISQMEPSSISILKENIVASE
IIGTLMDQCTYFNESLIQNLSRESLFQGAENAYTVNQVELATNMKMFTSKLKEGSLGINP
SQVSKTGFVFCSDEDMKEKYRVSSDLPTSVRSSVEDTVKNSEPTKRPDSETMPSCSTRNK
VQDHRPRESNFGSFDQTMKGNSYLPEGSFLQKLLRKASDSTEAALKQVLSFIEMGKGENL
RVFHYENLKPVVEPNQIQTTISPLKICLAAENIVNTVLSSCGFPSQPHTNENREIMKPFF
ISKQSSLSEVSGGQKDNEKSLLRMQDKKINYIPEEENENLEASREDSSFLQKLKKKEYPK
IETVKEVEAFTFADHEMGSNEVHLIARHVTTSVVTYLKNFETTVFSEEKMSVSTWSRKKY
ESKQFLRNIYDDSSIYQCCEHLTESVLYHLTSSISDGTKKGREKEKAWEIQEATFSKIIS
IHSQVFESRSISIGELALCISEIIIKILFNNKIIQADIAQKMVAIPTKYTYCPGIVSGGF
DDLFQDLLVGVIHVLSKEIEVDYHFESNVRNKSFSMHRNNSVPLCNKINRQASPRDWQFS
TQQIGQLFQKNKLSYLACKLNSLVGNLKTSESKEVVNKVFNIVSDLFSPDECLDTGMDSG
KIQRTYFYSSNNEQPNSILTNNLQLSSKSVFLLNVVCEKLIRILLEECTSTAFPDKGSVS
EETSAEECQLLKMLQSVEDGKSDYRKGGMDCECLQVDYMSDLLENVAEIDQDLLTSDSML
TIISHSLVKSLMDKLSHSIQQAPESLPFANKHLNYRTREIQSSFIKARKSELIELGQSKS
SLELRSYDSNSLTVSLNNPSVVSSKIQAPFNKHCAVKSSSVSPFERQRTKEMDKVAIHNK
LHQEGIYAGVYSATFLEGIISELFFNLSMSLWGKNKNITVSWLNEMNTLFVNNVVNEFNN
AQVTVLRNAEERLCFPPVHTETVSKIVDSVYYDVLQQYELKVACGNNPVYDNASIAEQIT
NGILLEILDYKLPSCFKEHLIPHSYYPLKPEIILQKLQSNLTEFTSLPRSSSDYSTMLSH
SFLEDVIRRLLSQLIPPPITCSSLGKKYLMSSDFNEMSTCIINKVMSAISKHKIWFTIYD
NQYLYTGKNLQKMVDSVYCNILQMSDSLVSIQKSIVSRSPIMIDQIASFIIQEIIENHLQ
PFLSGEVLCHPRTPLDPVSTIVTQVLSEVIESHRPQKQSPLDIHLDSFVREIVARLLSKI
FSPKHNTEIELKNMTQRIVNSINRHFNKAKIHILYDDKEQAFFSFNTDIVDELATSVYRN
ALKQHGLDLAVDKESEDSGIFVENITNLIVAAISDYLLHPLFSGDFSASTYSNSVAENIV
QDILSNISKSTEPSQSVPLYNTLLPYTFLEDMIRVLLSKLFSSASSLVLNRDTQKDISRV
NFNDIASNLVSDIRMKVSQHEIRFSKEEEETKFIYSEDDIQHLVDSVFANVVQTSGSQES
AVQNITSSNDILIDRIAGFIIKHICQKHLQPFVSGKSLSSSDTYFDDERRQ
LFYTSVYSS
TFLEDVISGVLRKIFHRVVGIVQTKSIRDSEDELFEKAEELIHLITGEFSKAQVSIIDNT
EERLCLPPVERDVVKTIVDMVYSKVLQEYEMEVVPNKDFLNDTKTLAARITNIILAEIFD
FQIHPDLIANLPFKSHSKLSANVLIQRVQYDISKSRFQRQASTMYTTMLSHSHLEKIVTQ
LTSQISPLNTSAEQSDTTKSDLSNTVIKLINEIMSIISKHEICIIKYGNKKQSMISAKDI
QSMVDSIYADLSHSNI
YQSITKDKKSISDIPVSKIASFIIKEIFNHHIQSFLSEDKTLLL
AAVDQTY
KLKAIDPKQRELSFIVNSSVFLEEVISELLCKILYAFSHNMLVTENPDRVKLK
LTRIVTTLVNSIVLEFTTSEILVADNFDKNLCFSERYKEMVQKIVNSVYGKVLDQYKSLI
QIHRVIQSDTICFGRKIYYLLLEEIYDYQVQSLVSGELESSSYSYPQADNIIRNVLNIIT
KDSHALPPYITVLPHSLLEDMVYRLLGHVFPSTHTENELKEKKFPPDDEFVEAASKLTDE
IIKEISEHEIRLSMAEDNAESMQLEPIENLVDSICNNILKTSEFQAEVQKDADKKGCSFL
SKLAGFIMKEIMYHHLQPFLHGEESSFSDLSD
YDHVSELAKSGKEKTQPSLYSATFLEDI
IIDLVHKFCSLLIITEDSKKNEMAELDIMGLALKLANSLIREFKKSDIKVLPNAEKMFSF
PPIDKETVDKISNFVYEQFIEKCTSHDIQKGDESNIAIGMIAALTQKAISAFRIQPLFSG
DWSSTFFSFLNPDNITQRVQHL
PQNTFTQISRCAKENQLSLPDQSYKDTSSTPDCKNMMS
TLEINRGTMNRKKSFKTKDTSVKKGDIQNPVLSSINAIMKSGMINLTSGLATGVTNKKEV
DENKVGICTQKHSENVSKVTSTTTVKSKDTQEPNLSETFNNNEIEKKRNLIPTDKKGKDD
EIYTHFSLIIDDTEYEKEVLGSDSEIGYKKKIDNARESSFKKDDKLFQLSSLKSKRNLGT
TTDTLEIRIRTSSNEGRRDSPTQTCRDEEHHSDYEHVQNVIENIFEDVLELSSSPEPAYY
SKLSYDQSPPGDNVLNVIQEISRDSAQSVTTKKVSSSTNKNISAKEKEEEEREKEKVREE
IKSEPSKPDDPQNQRESKPGIFPAKFLEDVITEMVKQLIFSSIPETQIQDRCQNVSDKQN
QAKLYDTAMKLINSLLKEFSDAQIKVFRPDKGNQFPGGKVSSVPKVPPRYKEPTTDEAPS
SIKIKSADKMPPMHKMMRKPSSDKIPSIDKTLVNKVVHSSVCNILNDYGSQDSIWKNINS
NGENLARRLTSAVINEIFQRQVNLIFCDEVSVSACLPLESKDVVKKVQKLAQTASKECQT
SSPYTIILPHKFLENVISALFSKIFSTISSTKTKEPEDNLSTELNFLQMKLVSAVATEIS
QDKYMTIQYVETLQSDDDEIIQLVVQSVYNNLLPQFGSQEIIQNCVTSGCKILSENIVDL
VLREVASNQLQSYFCGELTPHQCVEVENIVEKILKDVFQTTDVPLPKPSHADKLSYNIIE
EIAVKFLSKLLSIFPKVHKERTKSLETDMQKITSKVLNSVQEFISKSKIKLVPPTKESPT
VPVADNATIENIVNSIYTSVLKHSGSYTSVFKDLMGKSNVLSDTIGFLMVNAISNSEFQP
QVEEEVSNSELVLEAVKIMEKVIKIIDELKSKEKSSSRKGLTLDAKLLEEVLALFLAKLI
RLPSSSSKDEKNLSKTELNKIASQLSKLVTAEISRSSISLIASDPEEHCLNPENTERIYQ
VVDSVYSNILQQSGTNKEFYYDIKDTNTAFPKKVASLIIDGVSSFPLDTINSTISNADLS
GELDVNRIVQKAQEHAFNVIPELEQEKLDQNLSEEESPIKIVPHVGKKPVKIDPKIISEH
LAVISIKTQPLEKLKQECLKRTGHSIAELRRASISGRNYSLGSPDLEKRKTERRTSLDKT
GRLDVKPLEAVARNSFQNIRKPDITKVELLKDVQSKNDLIVRLVAHDIDQVYLENYIKEE
RDSDEDEVVLTQTFAKEEGIKVFEDQVKEVKKPIQSKLSPKSTLSTSSLKKFLSLSKCCQ
TTASANIESTEAISNQVIESKETHVKRAVAELDMATPKTMPETASSSWEEKPQC
KKEEKN
LVTEPTHYFIHRIMSSSSYNQEDLISSTGEAEDCHSDPSAKILEESSQEQKPEHGNSVKF
ITIFERSKDVLGSANPSKEVISETPKPDVSKQGSKMLTKMSSTLSKVFSQCNTNISRSSS
PAHQDEH
Sequence length 6907
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
165
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Spermatogenic failure 34 Likely pathogenic; Pathogenic rs745571898, rs1218883375, rs558463276, rs527302772, rs1325784701, rs2468750474, rs191083003, rs2468764436, rs2468724359, rs1559024613, rs1559034750, rs773975635, rs1559025141 RCV002290258
RCV003324660
RCV003324661
RCV003324662
RCV003324663
RCV003324664
RCV003324665
RCV003324666
RCV003990796
RCV000714283
RCV000714284
RCV000714285
RCV000714286
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely benign rs182519742 RCV005933204
Cholangiocarcinoma Benign rs77383516 RCV005935201
FSIP2-related disorder Conflicting classifications of pathogenicity; Likely benign; Uncertain significance; Benign rs201876794, rs551594235, rs137864187, rs200393690, rs184298485, rs200925453, rs142306380, rs139442712, rs74508015, rs115715789, rs141318533, rs188970608, rs200741240, rs79400482, rs192957612
View all (121 more)
RCV003908517
RCV003898337
RCV003931161
RCV003940986
RCV003941109
RCV003976108
RCV003931348
RCV003903617
RCV003933731
RCV003933732
RCV003971231
RCV003906691
RCV003928993
RCV003966327
RCV004757589
RCV003908925
RCV003954171
RCV003929115
RCV003966391
RCV003908926
RCV003949091
RCV003907118
RCV003907119
RCV003907197
RCV003909474
RCV003907324
RCV003923836
RCV003924137
RCV003981758
RCV003974324
RCV003974350
RCV003974473
RCV003974475
RCV003974579
RCV003974641
RCV003974678
RCV003902310
RCV003974072
RCV003974097
RCV003967354
RCV003967372
RCV003979672
RCV003979731
RCV003979733
RCV003979736
RCV003979744
RCV003984621
RCV003984777
RCV003984788
RCV003982399
RCV003982406
RCV003982413
RCV003982420
RCV003982527
RCV003911765
RCV003911818
RCV003903867
RCV003903945
RCV003903986
RCV003916955
RCV003917024
RCV003964399
RCV003973829
RCV003973914
RCV003964466
RCV003977182
RCV003979462
RCV003982277
RCV003982299
RCV003977298
RCV003977423
RCV003984523
RCV003909746
RCV003914143
RCV003933853
RCV003941977
RCV003952130
RCV003961601
RCV003959558
RCV003972017
RCV003981238
RCV003972096
RCV003917035
RCV003917151
RCV003931507
RCV003931576
RCV003931786
RCV003927103
RCV003929400
RCV003941407
RCV003939705
RCV003939723
RCV003949568
RCV003961449
RCV003914364
RCV003914410
RCV003914444
RCV003914498
RCV003914541
RCV003914604
RCV003924318
RCV003951561
RCV003954765
RCV003954784
RCV003957088
RCV003969250
RCV003922129
RCV003924292
RCV003932201
RCV003932218
RCV003934179
RCV003924690
RCV003954326
RCV003954413
RCV003954664
RCV003972320
RCV003979084
RCV003979168
RCV003964777
RCV003981864
RCV003981883
RCV003981943
RCV003981949
RCV003982082
RCV003982216
RCV003971594
RCV003976512
RCV003972237
RCV003972252
RCV003964244
RCV003981312
RCV003981319
RCV003976339
RCV003972206
RCV004757624
RCV004757625
RCV003936135
Long QT syndrome Likely benign rs796052180 RCV000190187
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Azoospermia Nonobstructive Associate 36017582
Breast Neoplasms Associate 28027327
Carcinoma Renal Cell Associate 33162809
Neoplasm Metastasis Associate 33162809
Paget's Disease Mammary Associate 30905357
Stomach Neoplasms Associate 36484990, 36970058
Testicular Germ Cell Tumor Associate 25609015