FSIP2 (fibrous sheath interacting protein 2)

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Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases Related genes Diseases linked via similar genes

Gene

• 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 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 Show/Hide all (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
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

Gene ontology (GO) Show/Hide all (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
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

Other IDs

• MIM: 615796
• HGNC: 21675
• e!Ensembl: ENSG00000188738

Protein

• UniProt ID: 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	5901 → 6774	Fibrous sheath-interacting protein 2	Family
  PF15783	FSIP2	4063 → 4611	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	4705 → 4927	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

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (11)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
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

Associations from Text Mining Show/Hide Text Mining Associations (9)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
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

Related Genes

Sort by: Blended Diseases Pathways Evidence source

CFAP70 2 shared diseasesCongenital impairment of spermatozoa motility, Spermatogenic failure 4 shared evidence sourcesDisgenet (Congenital impairment of spermatozoa motility), Disgenet (Spermatogenic failure), HPO (Spermatogenic failure), ClinVar (Spermatogenic failure) Related via 2 shared diseases including Congenital impairment of spermatozoa motility, Spermatogenic failure — evidence mostly Disgenet. CFAP69 2 shared diseasesCongenital impairment of spermatozoa motility, Spermatogenic failure 4 shared evidence sourcesDisgenet (Congenital impairment of spermatozoa motility), Disgenet (Spermatogenic failure), HPO (Spermatogenic failure), ClinVar (Spermatogenic failure) Related via 2 shared diseases including Congenital impairment of spermatozoa motility, Spermatogenic failure — evidence mostly Disgenet. SEPTIN12 2 shared diseasesCongenital impairment of spermatozoa motility, Spermatogenic failure 4 shared evidence sourcesDisgenet (Congenital impairment of spermatozoa motility), Disgenet (Spermatogenic failure), HPO (Spermatogenic failure), ClinVar (Spermatogenic failure) Related via 2 shared diseases including Congenital impairment of spermatozoa motility, Spermatogenic failure — evidence mostly Disgenet. CFAP65 2 shared diseasesCongenital impairment of spermatozoa motility, Spermatogenic failure 4 shared evidence sourcesDisgenet (Congenital impairment of spermatozoa motility), Disgenet (Spermatogenic failure), HPO (Spermatogenic failure), ClinVar (Spermatogenic failure) Related via 2 shared diseases including Congenital impairment of spermatozoa motility, Spermatogenic failure — evidence mostly Disgenet. CFAP251 2 shared diseasesCongenital impairment of spermatozoa motility, Spermatogenic failure 5 shared evidence sourcesDisgenet (Congenital impairment of spermatozoa motility), Disgenet (Spermatogenic failure), GWAS catalog (Spermatogenic failure), HPO (Spermatogenic failure), ClinVar (Spermatogenic failure) Related via 2 shared diseases including Congenital impairment of spermatozoa motility, Spermatogenic failure — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
CFAP70	2	["Congenital impairment of spermatozoa motility","Spermatogenic failure"]	0	[]	4	["Disgenet (Congenital impairment of spermatozoa motility)","Disgenet (Spermatogenic failure)","HPO (Spermatogenic failure)","ClinVar (Spermatogenic failure)"]
CFAP69	2	["Congenital impairment of spermatozoa motility","Spermatogenic failure"]	0	[]	4	["Disgenet (Congenital impairment of spermatozoa motility)","Disgenet (Spermatogenic failure)","HPO (Spermatogenic failure)","ClinVar (Spermatogenic failure)"]
SEPTIN12	2	["Congenital impairment of spermatozoa motility","Spermatogenic failure"]	0	[]	4	["Disgenet (Congenital impairment of spermatozoa motility)","Disgenet (Spermatogenic failure)","HPO (Spermatogenic failure)","ClinVar (Spermatogenic failure)"]
CFAP65	2	["Congenital impairment of spermatozoa motility","Spermatogenic failure"]	0	[]	4	["Disgenet (Congenital impairment of spermatozoa motility)","Disgenet (Spermatogenic failure)","HPO (Spermatogenic failure)","ClinVar (Spermatogenic failure)"]
CFAP251	2	["Congenital impairment of spermatozoa motility","Spermatogenic failure"]	0	[]	5	["Disgenet (Congenital impairment of spermatozoa motility)","Disgenet (Spermatogenic failure)","GWAS catalog (Spermatogenic failure)","HPO (Spermatogenic failure)","ClinVar (Spermatogenic failure)"]

Diseases Linked via Similar Genes

Diabetes mellitus type 2 Linked via 1 of 5 related genesCFAP69 Schizophrenia Linked via 1 of 5 related genesCFAP65 Male infertility teratozoospermia Linked via 1 of 5 related genesCFAP251

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Diabetes mellitus type 2	1	["CFAP69"]
Schizophrenia	1	["CFAP65"]
Male infertility teratozoospermia	1	["CFAP251"]