Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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

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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

128

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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
MIRT636830	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT636829	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT636828	hsa-miR-3941	HITS-CLIP	23824327
MIRT636827	hsa-miR-4672	HITS-CLIP	23824327
MIRT636826	hsa-miR-466	HITS-CLIP	23824327
MIRT636825	hsa-miR-7977	HITS-CLIP	23824327
MIRT636824	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT636823	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT634865	hsa-miR-8060	HITS-CLIP	23824327
MIRT634864	hsa-miR-6841-3p	HITS-CLIP	23824327
MIRT634863	hsa-miR-1915-5p	HITS-CLIP	23824327
MIRT634862	hsa-miR-4641	HITS-CLIP	23824327
MIRT634861	hsa-miR-3140-3p	HITS-CLIP	23824327
MIRT634860	hsa-miR-4694-5p	HITS-CLIP	23824327
MIRT634859	hsa-miR-502-5p	HITS-CLIP	23824327
MIRT634858	hsa-miR-7702	HITS-CLIP	23824327
MIRT525523	hsa-miR-583	PAR-CLIP	20371350
MIRT525522	hsa-miR-3125	PAR-CLIP	20371350
MIRT525521	hsa-miR-3916	PAR-CLIP	20371350
MIRT525520	hsa-miR-6859-5p	PAR-CLIP	20371350
MIRT525519	hsa-miR-4496	PAR-CLIP	20371350
MIRT525518	hsa-miR-4272	PAR-CLIP	20371350
MIRT525517	hsa-miR-4275	PAR-CLIP	20371350
MIRT525516	hsa-miR-339-5p	PAR-CLIP	20371350
MIRT525513	hsa-miR-6124	PAR-CLIP	20371350
MIRT525510	hsa-miR-4433b-5p	PAR-CLIP	20371350
MIRT525508	hsa-miR-4646-3p	PAR-CLIP	20371350
MIRT525539	hsa-miR-7-1-3p	PAR-CLIP	22012620
MIRT525538	hsa-miR-7-2-3p	PAR-CLIP	22012620
MIRT525537	hsa-miR-651-3p	PAR-CLIP	22012620
MIRT525536	hsa-miR-767-3p	PAR-CLIP	22012620
MIRT525535	hsa-miR-1185-5p	PAR-CLIP	22012620
MIRT525534	hsa-miR-3679-5p	PAR-CLIP	22012620
MIRT525533	hsa-miR-7158-5p	PAR-CLIP	22012620
MIRT525532	hsa-miR-548as-3p	PAR-CLIP	22012620
MIRT525531	hsa-miR-6771-3p	PAR-CLIP	22012620
MIRT525530	hsa-miR-8063	PAR-CLIP	22012620
MIRT525529	hsa-miR-4690-3p	PAR-CLIP	22012620
MIRT525528	hsa-miR-5685	PAR-CLIP	22012620
MIRT525527	hsa-miR-6508-5p	PAR-CLIP	22012620
MIRT525526	hsa-miR-8067	PAR-CLIP	22012620
MIRT525525	hsa-miR-6787-3p	PAR-CLIP	22012620
MIRT525524	hsa-miR-6818-3p	PAR-CLIP	22012620
MIRT525523	hsa-miR-583	PAR-CLIP	22012620
MIRT525522	hsa-miR-3125	PAR-CLIP	22012620
MIRT525521	hsa-miR-3916	PAR-CLIP	22012620
MIRT525520	hsa-miR-6859-5p	PAR-CLIP	22012620
MIRT525519	hsa-miR-4496	PAR-CLIP	22012620
MIRT525518	hsa-miR-4272	PAR-CLIP	22012620
MIRT525517	hsa-miR-4275	PAR-CLIP	22012620
MIRT525516	hsa-miR-339-5p	PAR-CLIP	22012620
MIRT525515	hsa-miR-3166	PAR-CLIP	22012620
MIRT525514	hsa-miR-4771	PAR-CLIP	22012620
MIRT525513	hsa-miR-6124	PAR-CLIP	22012620
MIRT525512	hsa-miR-1273h-3p	PAR-CLIP	22012620
MIRT525511	hsa-miR-3678-3p	PAR-CLIP	22012620
MIRT525510	hsa-miR-4433b-5p	PAR-CLIP	22012620
MIRT525509	hsa-miR-6516-5p	PAR-CLIP	22012620
MIRT525508	hsa-miR-4646-3p	PAR-CLIP	22012620
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
MIRT636830	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT636829	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT636828	hsa-miR-3941	HITS-CLIP	23824327
MIRT636827	hsa-miR-4672	HITS-CLIP	23824327
MIRT636826	hsa-miR-466	HITS-CLIP	23824327
MIRT636825	hsa-miR-7977	HITS-CLIP	23824327
MIRT636824	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT636823	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT634865	hsa-miR-8060	HITS-CLIP	23824327
MIRT634864	hsa-miR-6841-3p	HITS-CLIP	23824327
MIRT634863	hsa-miR-1915-5p	HITS-CLIP	23824327
MIRT634862	hsa-miR-4641	HITS-CLIP	23824327
MIRT634861	hsa-miR-3140-3p	HITS-CLIP	23824327
MIRT634860	hsa-miR-4694-5p	HITS-CLIP	23824327
MIRT634859	hsa-miR-502-5p	HITS-CLIP	23824327
MIRT634858	hsa-miR-7702	HITS-CLIP	23824327
MIRT525523	hsa-miR-583	PAR-CLIP	20371350
MIRT525522	hsa-miR-3125	PAR-CLIP	20371350
MIRT525521	hsa-miR-3916	PAR-CLIP	20371350
MIRT525520	hsa-miR-6859-5p	PAR-CLIP	20371350
MIRT525519	hsa-miR-4496	PAR-CLIP	20371350
MIRT525518	hsa-miR-4272	PAR-CLIP	20371350
MIRT525517	hsa-miR-4275	PAR-CLIP	20371350
MIRT525516	hsa-miR-339-5p	PAR-CLIP	20371350
MIRT525513	hsa-miR-6124	PAR-CLIP	20371350
MIRT525510	hsa-miR-4433b-5p	PAR-CLIP	20371350
MIRT525508	hsa-miR-4646-3p	PAR-CLIP	20371350
MIRT525539	hsa-miR-7-1-3p	PAR-CLIP	22012620
MIRT525538	hsa-miR-7-2-3p	PAR-CLIP	22012620
MIRT525537	hsa-miR-651-3p	PAR-CLIP	22012620
MIRT525536	hsa-miR-767-3p	PAR-CLIP	22012620
MIRT525535	hsa-miR-1185-5p	PAR-CLIP	22012620
MIRT525534	hsa-miR-3679-5p	PAR-CLIP	22012620
MIRT525533	hsa-miR-7158-5p	PAR-CLIP	22012620
MIRT525532	hsa-miR-548as-3p	PAR-CLIP	22012620
MIRT525531	hsa-miR-6771-3p	PAR-CLIP	22012620
MIRT525530	hsa-miR-8063	PAR-CLIP	22012620
MIRT525529	hsa-miR-4690-3p	PAR-CLIP	22012620
MIRT525528	hsa-miR-5685	PAR-CLIP	22012620
MIRT525527	hsa-miR-6508-5p	PAR-CLIP	22012620
MIRT525526	hsa-miR-8067	PAR-CLIP	22012620
MIRT525525	hsa-miR-6787-3p	PAR-CLIP	22012620
MIRT525524	hsa-miR-6818-3p	PAR-CLIP	22012620
MIRT525523	hsa-miR-583	PAR-CLIP	22012620
MIRT525522	hsa-miR-3125	PAR-CLIP	22012620
MIRT525521	hsa-miR-3916	PAR-CLIP	22012620
MIRT525520	hsa-miR-6859-5p	PAR-CLIP	22012620
MIRT525519	hsa-miR-4496	PAR-CLIP	22012620
MIRT525518	hsa-miR-4272	PAR-CLIP	22012620
MIRT525517	hsa-miR-4275	PAR-CLIP	22012620
MIRT525516	hsa-miR-339-5p	PAR-CLIP	22012620
MIRT525515	hsa-miR-3166	PAR-CLIP	22012620
MIRT525514	hsa-miR-4771	PAR-CLIP	22012620
MIRT525513	hsa-miR-6124	PAR-CLIP	22012620
MIRT525512	hsa-miR-1273h-3p	PAR-CLIP	22012620
MIRT525511	hsa-miR-3678-3p	PAR-CLIP	22012620
MIRT525510	hsa-miR-4433b-5p	PAR-CLIP	22012620
MIRT525509	hsa-miR-6516-5p	PAR-CLIP	22012620
MIRT525508	hsa-miR-4646-3p	PAR-CLIP	22012620

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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
GO:0097228	Component	Sperm principal piece	IMP	30745215
GO:0097229	Component	Sperm end piece	IDA	30745215
GO:0120212	Component	Sperm head-tail coupling apparatus	IDA	30745215

MIM	HGNC	e!Ensembl
615796	21675	ENSG00000188738

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
AVQNITSSNDILIDRIAGFIIKHICQKHLQPFVSGKSLSSSDTYFDDERRQLFYTSVYSS
TFLEDVISGVLRKIFHRVVGIVQTKSIRDSEDELFEKAEELIHLITGEFSKAQVSIIDNT
EERLCLPPVERDVVKTIVDMVYSKVLQEYEMEVVPNKDFLNDTKTLAARITNIILAEIFD
FQIHPDLIANLPFKSHSKLSANVLIQRVQYDISKSRFQRQASTMYTTMLSHSHLEKIVTQ
LTSQISPLNTSAEQSDTTKSDLSNTVIKLINEIMSIISKHEICIIKYGNKKQSMISAKDI
QSMVDSIYADLSHSNIYQSITKDKKSISDIPVSKIASFIIKEIFNHHIQSFLSEDKTLLL
AAVDQTYKLKAIDPKQRELSFIVNSSVFLEEVISELLCKILYAFSHNMLVTENPDRVKLK
LTRIVTTLVNSIVLEFTTSEILVADNFDKNLCFSERYKEMVQKIVNSVYGKVLDQYKSLI
QIHRVIQSDTICFGRKIYYLLLEEIYDYQVQSLVSGELESSSYSYPQADNIIRNVLNIIT
KDSHALPPYITVLPHSLLEDMVYRLLGHVFPSTHTENELKEKKFPPDDEFVEAASKLTDE
IIKEISEHEIRLSMAEDNAESMQLEPIENLVDSICNNILKTSEFQAEVQKDADKKGCSFL
SKLAGFIMKEIMYHHLQPFLHGEESSFSDLSDYDHVSELAKSGKEKTQPSLYSATFLEDI
IIDLVHKFCSLLIITEDSKKNEMAELDIMGLALKLANSLIREFKKSDIKVLPNAEKMFSF
PPIDKETVDKISNFVYEQFIEKCTSHDIQKGDESNIAIGMIAALTQKAISAFRIQPLFSG
DWSSTFFSFLNPDNITQRVQHLPQNTFTQISRCAKENQLSLPDQSYKDTSSTPDCKNMMS
TLEINRGTMNRKKSFKTKDTSVKKGDIQNPVLSSINAIMKSGMINLTSGLATGVTNKKEV
DENKVGICTQKHSENVSKVTSTTTVKSKDTQEPNLSETFNNNEIEKKRNLIPTDKKGKDD
EIYTHFSLIIDDTEYEKEVLGSDSEIGYKKKIDNARESSFKKDDKLFQLSSLKSKRNLGT
TTDTLEIRIRTSSNEGRRDSPTQTCRDEEHHSDYEHVQNVIENIFEDVLELSSSPEPAYY
SKLSYDQSPPGDNVLNVIQEISRDSAQSVTTKKVSSSTNKNISAKEKEEEEREKEKVREE
IKSEPSKPDDPQNQRESKPGIFPAKFLEDVITEMVKQLIFSSIPETQIQDRCQNVSDKQN
QAKLYDTAMKLINSLLKEFSDAQIKVFRPDKGNQFPGGKVSSVPKVPPRYKEPTTDEAPS
SIKIKSADKMPPMHKMMRKPSSDKIPSIDKTLVNKVVHSSVCNILNDYGSQDSIWKNINS
NGENLARRLTSAVINEIFQRQVNLIFCDEVSVSACLPLESKDVVKKVQKLAQTASKECQT
SSPYTIILPHKFLENVISALFSKIFSTISSTKTKEPEDNLSTELNFLQMKLVSAVATEIS
QDKYMTIQYVETLQSDDDEIIQLVVQSVYNNLLPQFGSQEIIQNCVTSGCKILSENIVDL
VLREVASNQLQSYFCGELTPHQCVEVENIVEKILKDVFQTTDVPLPKPSHADKLSYNIIE
EIAVKFLSKLLSIFPKVHKERTKSLETDMQKITSKVLNSVQEFISKSKIKLVPPTKESPT
VPVADNATIENIVNSIYTSVLKHSGSYTSVFKDLMGKSNVLSDTIGFLMVNAISNSEFQP
QVEEEVSNSELVLEAVKIMEKVIKIIDELKSKEKSSSRKGLTLDAKLLEEVLALFLAKLI
RLPSSSSKDEKNLSKTELNKIASQLSKLVTAEISRSSISLIASDPEEHCLNPENTERIYQ
VVDSVYSNILQQSGTNKEFYYDIKDTNTAFPKKVASLIIDGVSSFPLDTINSTISNADLS
GELDVNRIVQKAQEHAFNVIPELEQEKLDQNLSEEESPIKIVPHVGKKPVKIDPKIISEH
LAVISIKTQPLEKLKQECLKRTGHSIAELRRASISGRNYSLGSPDLEKRKTERRTSLDKT
GRLDVKPLEAVARNSFQNIRKPDITKVELLKDVQSKNDLIVRLVAHDIDQVYLENYIKEE
RDSDEDEVVLTQTFAKEEGIKVFEDQVKEVKKPIQSKLSPKSTLSTSSLKKFLSLSKCCQ
TTASANIESTEAISNQVIESKETHVKRAVAELDMATPKTMPETASSSWEEKPQCKKEEKN
LVTEPTHYFIHRIMSSSSYNQEDLISSTGEAEDCHSDPSAKILEESSQEQKPEHGNSVKF
ITIFERSKDVLGSANPSKEVISETPKPDVSKQGSKMLTKMSSTLSKVFSQCNTNISRSSS
PAHQDEH

Sequence length

6907

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Spermatogenic failure 34	Likely pathogenic; Pathogenic	rs745571898, rs1218883375, rs558463276, rs527302772, rs1325784701, rs2468750474, rs191083003, rs2468764436, rs2468724359, rs1559024613, rs1559034750, rs773975635, rs1559025141	RCV002290258 RCV003324660 RCV003324661 RCV003324662 RCV003324663 View all (8 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL IMPAIRMENT OF SPERMATOZOA MOTILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FSIP2-related disorder	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT syndrome	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (9)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Azoospermia Nonobstructive	Nonobstructive azoospermia	Pubtator	36017582	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	28027327	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33162809	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-syndromic male infertility due to sperm motility disorder	Non-Syndromic Male Infertility Due To Sperm Motility Disorder	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteitis Deformans	Paget disease	BEFREE	30905357		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paget Disease	Paget disease	BEFREE	30905357		★★★★★ ★☆☆☆☆ Found in Text Mining only
SPERMATOGENIC FAILURE 34	Spermatogenic Failure	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Stomach Neoplasms	Stomach neoplasms	Pubtator	36484990, 36970058	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular germ cell tumor	Pubtator	25609015	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

FSIP2 (fibrous sheath interacting protein 2)