HMCN1 (hemicentin 1)

Download as csv Download as pdf

Log in to bookmark this gene

Bookmark This Gene

Title Project / Tag (optional) Note (optional)

Cancel Save

On this page

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

Gene

• Entrez ID: 83872
• Gene name: Hemicentin 1
• Gene symbol: HMCN1
• Synonyms (NCBI Gene): ARMD1, FBLN6, FIBL-6, FIBL6
• Chromosome: 1
• Chromosome location: 1q25.3-q31.1
• Summary: This gene encodes a large extracellular member of the immunoglobulin superfamily. A similar protein in C. elegans forms long, fine tracks at specific extracellular sites that are involved in many processes such as stabilization of the germline syncytium,

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434382	A>G	Risk-factor	Genic downstream transcript variant, missense variant, intron variant, coding sequence variant
rs879255520	C>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA Show/Hide all (87)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017939	hsa-miR-335-5p	Microarray	18185580
MIRT446046	hsa-miR-6805-5p	PAR-CLIP	22100165
MIRT446044	hsa-miR-875-3p	PAR-CLIP	22100165
MIRT446043	hsa-miR-6128	PAR-CLIP	22100165
MIRT446042	hsa-miR-3179	PAR-CLIP	22100165
MIRT446041	hsa-miR-4533	PAR-CLIP	22100165
MIRT446040	hsa-miR-3202	PAR-CLIP	22100165
MIRT446039	hsa-miR-6846-5p	PAR-CLIP	22100165
MIRT446038	hsa-miR-6848-5p	PAR-CLIP	22100165
MIRT446037	hsa-miR-1299	PAR-CLIP	22100165
MIRT446046	hsa-miR-6805-5p	PAR-CLIP	22100165
MIRT446044	hsa-miR-875-3p	PAR-CLIP	22100165
MIRT446043	hsa-miR-6128	PAR-CLIP	22100165
MIRT446042	hsa-miR-3179	PAR-CLIP	22100165
MIRT446041	hsa-miR-4533	PAR-CLIP	22100165
MIRT446040	hsa-miR-3202	PAR-CLIP	22100165
MIRT446039	hsa-miR-6846-5p	PAR-CLIP	22100165
MIRT446038	hsa-miR-6848-5p	PAR-CLIP	22100165
MIRT446037	hsa-miR-1299	PAR-CLIP	22100165
MIRT1048870	hsa-miR-190	CLIP-seq
MIRT1048871	hsa-miR-190b	CLIP-seq
MIRT1048872	hsa-miR-3616-3p	CLIP-seq
MIRT1048873	hsa-miR-3646	CLIP-seq
MIRT1048874	hsa-miR-3662	CLIP-seq
MIRT1048875	hsa-miR-4420	CLIP-seq
MIRT1048876	hsa-miR-4481	CLIP-seq
MIRT1048877	hsa-miR-4659a-3p	CLIP-seq
MIRT1048878	hsa-miR-4659a-5p	CLIP-seq
MIRT1048879	hsa-miR-4659b-3p	CLIP-seq
MIRT1048880	hsa-miR-4659b-5p	CLIP-seq
MIRT1048881	hsa-miR-4694-5p	CLIP-seq
MIRT1048882	hsa-miR-4721	CLIP-seq
MIRT1048883	hsa-miR-4745-5p	CLIP-seq
MIRT1048884	hsa-miR-4758-5p	CLIP-seq
MIRT1048885	hsa-miR-4778-3p	CLIP-seq
MIRT1048886	hsa-miR-548c-3p	CLIP-seq
MIRT1549536	hsa-miR-182	CLIP-seq
MIRT1549537	hsa-miR-302f	CLIP-seq
MIRT2011123	hsa-miR-2054	CLIP-seq
MIRT2011124	hsa-miR-29a	CLIP-seq
MIRT2011125	hsa-miR-29b	CLIP-seq
MIRT2011126	hsa-miR-29c	CLIP-seq
MIRT2011127	hsa-miR-3122	CLIP-seq
MIRT2011128	hsa-miR-3129-3p	CLIP-seq
MIRT2011129	hsa-miR-342-3p	CLIP-seq
MIRT2011130	hsa-miR-362-5p	CLIP-seq
MIRT2011131	hsa-miR-3647-3p	CLIP-seq
MIRT2011132	hsa-miR-3913-5p	CLIP-seq
MIRT2011133	hsa-miR-4273	CLIP-seq
MIRT2011134	hsa-miR-4305	CLIP-seq
MIRT2011135	hsa-miR-4427	CLIP-seq
MIRT2011136	hsa-miR-4475	CLIP-seq
MIRT2011137	hsa-miR-450b-3p	CLIP-seq
MIRT2011138	hsa-miR-4677-5p	CLIP-seq
MIRT2011139	hsa-miR-4680-3p	CLIP-seq
MIRT2011140	hsa-miR-4705	CLIP-seq
MIRT2011141	hsa-miR-4713-3p	CLIP-seq
MIRT2011142	hsa-miR-4718	CLIP-seq
MIRT2011143	hsa-miR-4719	CLIP-seq
MIRT2011144	hsa-miR-4735-5p	CLIP-seq
MIRT2011145	hsa-miR-4775	CLIP-seq
MIRT2011146	hsa-miR-4777-5p	CLIP-seq
MIRT2011147	hsa-miR-4782-5p	CLIP-seq
MIRT2011148	hsa-miR-4789-5p	CLIP-seq
MIRT2011149	hsa-miR-4799-5p	CLIP-seq
MIRT2011150	hsa-miR-500b	CLIP-seq
MIRT2011151	hsa-miR-501-5p	CLIP-seq
MIRT2011152	hsa-miR-516b	CLIP-seq
MIRT2011153	hsa-miR-518d-5p	CLIP-seq
MIRT2011154	hsa-miR-519b-5p	CLIP-seq
MIRT2011155	hsa-miR-519c-5p	CLIP-seq
MIRT2011156	hsa-miR-520c-5p	CLIP-seq
MIRT2011157	hsa-miR-526a	CLIP-seq
MIRT2011158	hsa-miR-548ag	CLIP-seq
MIRT2011159	hsa-miR-548ai	CLIP-seq
MIRT1048886	hsa-miR-548c-3p	CLIP-seq
MIRT2011160	hsa-miR-548n	CLIP-seq
MIRT2011161	hsa-miR-548t	CLIP-seq
MIRT2011162	hsa-miR-561	CLIP-seq
MIRT2011163	hsa-miR-590-3p	CLIP-seq
MIRT2011164	hsa-miR-638	CLIP-seq
MIRT2011165	hsa-miR-656	CLIP-seq
MIRT2011166	hsa-miR-767-5p	CLIP-seq
MIRT2011167	hsa-miR-769-3p	CLIP-seq
MIRT2011168	hsa-miR-889	CLIP-seq
MIRT2011147	hsa-miR-4782-5p	CLIP-seq
MIRT2011152	hsa-miR-516b	CLIP-seq

Gene ontology (GO) Show/Hide all (28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005201	Function	Extracellular matrix structural constituent	HDA	28344315
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	19696174
GO:0005576	Component	Extracellular region	IEA
GO:0005604	Component	Basement membrane	IEA
GO:0005604	Component	Basement membrane	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005886	Component	Plasma membrane	IBA
GO:0005912	Component	Adherens junction	IBA
GO:0005927	Component	Muscle tendon junction	IEA
GO:0005927	Component	Muscle tendon junction	ISS
GO:0005938	Component	Cell cortex	IEA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IBA
GO:0007157	Process	Heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	IBA
GO:0007601	Process	Visual perception	IEA
GO:0009617	Process	Response to bacterium	IEA
GO:0030036	Process	Actin cytoskeleton organization	IMP	29488390
GO:0030054	Component	Cell junction	IEA
GO:0031012	Component	Extracellular matrix	HDA	28344315
GO:0031012	Component	Extracellular matrix	TAS	22261194
GO:0032154	Component	Cleavage furrow	IEA
GO:0051301	Process	Cell division	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0070161	Component	Anchoring junction	IEA
GO:0071711	Process	Basement membrane organization	IEA
GO:0071711	Process	Basement membrane organization	ISS
GO:0098631	Function	Cell adhesion mediator activity	IBA

Other IDs

• MIM: 608548
• HGNC: 19194
• e!Ensembl: ENSG00000143341

Protein

• UniProt ID: Q96RW7
• Protein name: Hemicentin-1 (Fibulin-6) (FIBL-6)
• Protein function: Involved in transforming growth factor beta-mediated rearrangement of the podocyte cytoskeleton which includes reduction of F-actin fibers and broadening, flattening and elongation of podocytes (PubMed:29488390). Plays a role in basement membran
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07474	G2F	4870 → 5052	G2F domain	Domain
  PF07645	EGF_CA	5272 → 5313	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	5147 → 5190	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	5315 → 5354	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	5192 → 5228	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	5230 → 5270	Calcium-binding EGF domain	Domain
  PF07679	I-set	1171 → 1258	Immunoglobulin I-set domain	Domain
  PF07679	I-set	2679 → 2762	Immunoglobulin I-set domain	Domain
  PF07679	I-set	3249 → 3336	Immunoglobulin I-set domain	Domain
  PF07679	I-set	2480 → 2567	Immunoglobulin I-set domain	Domain
  PF07679	I-set	3062 → 3147	Immunoglobulin I-set domain	Domain
  PF07679	I-set	2295 → 2380	Immunoglobulin I-set domain	Domain
  PF07679	I-set	2965 → 3052	Immunoglobulin I-set domain	Domain
  PF07679	I-set	612 → 697	Immunoglobulin I-set domain	Domain
  PF07679	I-set	1456 → 1542	Immunoglobulin I-set domain	Domain
  PF07679	I-set	4079 → 4165	Immunoglobulin I-set domain	Domain
  PF07679	I-set	793 → 884	Immunoglobulin I-set domain	Domain
  PF07679	I-set	3437 → 3523	Immunoglobulin I-set domain	Domain
  PF07679	I-set	1740 → 1822	Immunoglobulin I-set domain	Domain
  PF07679	I-set	2389 → 2474	Immunoglobulin I-set domain	Domain
  PF07679	I-set	1829 → 1915	Immunoglobulin I-set domain	Domain
  PF07679	I-set	3713 → 3800	Immunoglobulin I-set domain	Domain
  PF07679	I-set	1551 → 1635	Immunoglobulin I-set domain	Domain
  PF07679	I-set	4354 → 4436	Immunoglobulin I-set domain	Domain
  PF07679	I-set	2012 → 2100	Immunoglobulin I-set domain	Domain
  PF07679	I-set	3623 → 3709	Immunoglobulin I-set domain	Domain
  PF07679	I-set	2579 → 2663	Immunoglobulin I-set domain	Domain
  PF07679	I-set	3346 → 3430	Immunoglobulin I-set domain	Domain
  PF07679	I-set	2875 → 2960	Immunoglobulin I-set domain	Domain
  PF07679	I-set	3804 → 3893	Immunoglobulin I-set domain	Domain
  PF07679	I-set	1360 → 1448	Immunoglobulin I-set domain	Domain
  PF07679	I-set	1272 → 1355	Immunoglobulin I-set domain	Domain
  PF07679	I-set	1925 → 2008	Immunoglobulin I-set domain	Domain
  PF07679	I-set	1082 → 1167	Immunoglobulin I-set domain	Domain
  PF07679	I-set	2784 → 2865	Immunoglobulin I-set domain	Domain
  PF07679	I-set	1645 → 1729	Immunoglobulin I-set domain	Domain
  PF07679	I-set	2200 → 2286	Immunoglobulin I-set domain	Domain
  PF07679	I-set	702 → 789	Immunoglobulin I-set domain	Domain
  PF07679	I-set	520 → 608	Immunoglobulin I-set domain	Domain
  PF12662	cEGF	5452 → 5475	Complement Clr-like EGF-like	Domain
  PF13927	Ig_3	3150 → 3228		Domain
  PF13927	Ig_3	4260 → 4332		Domain
  PF13927	Ig_3	2103 → 2178		Domain
  PF13927	Ig_3	4439 → 4513		Domain
  PF13927	Ig_3	3987 → 4062		Domain
  PF13927	Ig_3	3526 → 3603		Domain
  PF13927	Ig_3	4168 → 4243		Domain
  PF13927	Ig_3	889 → 964		Domain
  PF13927	Ig_3	981 → 1055		Domain
  PF13927	Ig_3	3896 → 3971		Domain
  PF00090	TSP_1	4533 → 4583	Thrombospondin type 1 domain	Domain
  PF00090	TSP_1	4590 → 4640	Thrombospondin type 1 domain	Domain
  PF00090	TSP_1	4647 → 4697	Thrombospondin type 1 domain	Domain
  PF00090	TSP_1	4818 → 4868	Thrombospondin type 1 domain	Domain
  PF00090	TSP_1	4704 → 4754	Thrombospondin type 1 domain	Domain
  PF00090	TSP_1	4761 → 4811	Thrombospondin type 1 domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in hair follicles and in the dermis (at protein level). {ECO:0000269|PubMed:32035013}.; TISSUE SPECIFICITY: [Isoform 1]: Expressed in skin fibroblasts and retinal pigment epithelium (RPE) cells. {ECO:0000269|PubMed:14570714}.
• Sequence:

  MISWEVVHTVFLFALLYSSLAQDASPQSEIRAEEIPEGASTLAFVFDVTGSMYDDLVQVI
  EGASKILETSLKRPKRPLFNFALVPFHDPEIGPVTITTDPKKFQYELRELYVQGGGDCPE
  MSIGAIKIALEISLPGSFIYVFTDARSKDYRLTHEVLQLIQQKQSQVVFVLTGDCDDRTH
  IGYKVYEEIASTSSGQVFHLDKKQVNEVLKWVEEAVQASKVHLLSTDHLEQAVNTWRIPF
  DPSLKEVTVSLSGPSPMIEIRNPLGKLIKKGFGLHELLNIHNSAKVVNVKEPEAGMWTVK
  TSSSGRHSVRITGLSTIDFRAGFSRKPTLDFKKTVSRPVQGIPTYVLLNTSGISTPARID
  LLELLSISGSSLKTIPVKYYPHRKPYGIWNISDFVPPNEAFFLKVTGYDKDDYLFQRVSS
  VSFSSIVPDAPKVTMPEKTPGYYLQPGQIPCSVDSLLPFTLSFVRNGVTLGVDQYLKESA
  SVNLDIAKVTLSDEGFYECIAVSSAGTGRAQTFFDVSEPPPVIQVPNNVTVTPGERAVLT
  CLIISAVDYNLTWQRNDRDVRLAEPARIRTLANLSLELKSVKFNDAGEYHCMVSSEGGSS
  AASVFLTVQEPPKVTVMPKNQSFTGGSEVSIMCSATGYPKPKIAWTVNDMFIVGSHRYRM
  TSDGTLFIKNAAPKDAGIYGCLASNSAGTDKQNSTLRYIEAPKLMVVQSELLVALGDITV
  MECKTSGIPPPQVKWFKGDLELRPSTFLIIDPLLGLLKIQETQDLDAGDYTCVAINEAGR
  ATGKITLDVGSPPVFIQEPADVSMEIGSNVTLPCYVQGYPEPTIKWRRLDNMPIFSRPFS
  VSSISQLRTGALFILNLWASDKGTYICEAENQFGKIQSETTVTVTGLVAPLIGISPSVAN
  VIEGQQLTLPCTLLAGNPIPERRWIKNSAMLLQNPYITVRSDGSLHIERVQLQDGGEYTC
  VASNVAGTNNKTTSVVVHVLPTIQHGQQILSTIEGIPVTLPCKASGNPKPSVIWSKKGEL
  ISTSSAKFSAGADGSLYVVSPGGEESGEYVCTATNTAGYAKRKVQLTVYVRPRVFGDQRG
  LSQDKPVEISVLAGEEVTLPCEVKSLPPPIITWAKETQLISPFSPRHTFLPSGSMKITET
  RTSDSGMYLCVATNIAGNVTQAVKLNVHVPPKIQRGPKHLKVQVGQRVDIPCNAQGTPLP
  VITWSKGGSTMLVDGEHHVSNPDGTLSIDQATPSDAGIYTCVATNIAGTDETEITLHVQE
  PPTVEDLEPPYNTTFQERVANQRIEFPCPAKGTPKPTIKWLHNGRELTGREPGISILEDG
  TLLVIASVTPYDNGEYICVAVNEAGTTERKYNLKVHVPPVIKDKEQVTNVSVLLNQLTNL
  FCEVEGTPSPIIMWYKDNVQVTESSTIQTVNNGKILKLFRATPEDAGRYSCKAINIAGTS
  QKYFNIDVLVPPTIIGTNFPNEVSVVLNRDVALECQVKGTPFPDIHWFKDGKPLFLGDPN
  VELLDRGQVLHLKNARRNDKGRYQCTVSNAAGKQAKDIKLTIYIPPSIKGGNVTTDISVL
  INSLIKLECETRGLPMPAITWYKDGQPIMSSSQALYIDKGQYLHIPRAQVSDSATYTCHV
  ANVAGTAEKSFHVDVYVPPMIEGNLATPLNKQVVIAHSLTLECKAAGNPSPILTWLKDGV
  PVKANDNIRIEAGGKKLEIMSAQEIDRGQYICVATSVAGEKEIKYEVDVLVPPAIEGGDE
  TSYFIVMVNNLLELDCHVTGSPPPTIMWLKDGQLIDERDGFKILLNGRKLVIAQAQVSNT
  GLYRCMAANTAGDHKKEFEVTVHVPPTIKSSGLSERVVVKYKPVALQCIANGIPNPSITW
  LKDDQPVNTAQGNLKIQSSGRVLQIAKTLLEDAGRYTCVATNAAGETQQHIQLHVHEPPS
  LEDAGKMLNETVLVSNPVQLECKAAGNPVPVITWYKDNRLLSGSTSMTFLNRGQIIDIES
  AQISDAGIYKCVAINSAGATELFYSLQVHVAPSISGSNNMVAVVVNNPVRLECEARGIPA
  PSLTWLKDGSPVSSFSNGLQVLSGGRILALTSAQISDTGRYTCVAVNAAGEKQRDIDLRV
  YVPPNIMGEEQNVSVLISQAVELLCQSDAIPPPTLTWLKDGHPLLKKPGLSISENRSVLK
  IEDAQVQDTGRYTCEATNVAGKTEKNYNVNIWVPPNIGGSDELTQLTVIEGNLISLLCES
  SGIPPPNLIWKKKGSPVLTDSMGRVRILSGGRQLQISIAEKSDAALYSCVASNVAGTAKK
  EYNLQVYIRPTITNSGSHPTEIIVTRGKSISLECEVQGIPPPTVTWMKDGHPLIKAKGVE
  ILDEGHILQLKNIHVSDTGRYVCVAVNVAGMTDKKYDLSVHAPPSIIGNHRSPENISVVE
  KNSVSLTCEASGIPLPSITWFKDGWPVSLSNSVRILSGGRMLRLMQTTMEDAGQYTCVVR
  NAAGEERKIFGLSVLVPPHIVGENTLEDVKVKEKQSVTLTCEVTGNPVPEITWHKDGQPL
  QEDEAHHIISGGRFLQITNVQVPHTGRYTCLASSPAGHKSRSFSLNVFVSPTIAGVGSDG
  NPEDVTVILNSPTSLVCEAYSYPPATITWFKDGTPLESNRNIRILPGGRTLQILNAQEDN
  AGRYSCVATNEAGEMIKHYEVKVYIPPIINKGDLWGPGLSPKEVKIKVNNTLTLECEAYA
  IPSASLSWYKDGQPLKSDDHVNIAANGHTLQIKEAQISDTGRYTCVASNIAGEDELDFDV
  NIQVPPSFQKLWEIGNMLDTGRNGEAKDVIINNPISLYCETNAAPPPTLTWYKDGHPLTS
  SDKVLILPGGRVLQIPRAKVEDAGRYTCVAVNEAGEDSLQYDVRVLVPPIIKGANSDLPE
  EVTVLVNKSALIECLSSGSPAPRNSWQKDGQPLLEDDHHKFLSNGRILQILNTQITDIGR
  YVCVAENTAGSAKKYFNLNVHVPPSVIGPKSENLTVVVNNFISLTCEVSGFPPPDLSWLK
  NEQPIKLNTNTLIVPGGRTLQIIRAKVSDGGEYTCIAINQAGESKKKFSLTVYVPPSIKD
  HDSESLSVVNVREGTSVSLECESNAVPPPVITWYKNGRMITESTHVEILADGQMLHIKKA
  EVSDTGQYVCRAINVAGRDDKNFHLNVYVPPSIEGPEREVIVETISNPVTLTCDATGIPP
  PTIAWLKNHKRIENSDSLEVRILSGGSKLQIARSQHSDSGNYTCIASNMEGKAQKYYFLS
  IQVPPSVAGAEIPSDVSVLLGENVELVCNANGIPTPLIQWLKDGKPIASGETERIRVSAN
  GSTLNIYGALTSDTGKYTCVATNPAGEEDRIFNLNVYVTPTIRGNKDEAEKLMTLVDTSI
  NIECRATGTPPPQINWLKNGLPLPLSSHIRLLAAGQVIRIVRAQVSDVAVYTCVASNRAG
  VDNKHYNLQVFAPPNMDNSMGTEEITVLKGSSTSMACITDGTPAPSMAWLRDGQPLGLDA
  HLTVSTHGMVLQLLKAETEDSGKYTCIASNEAGEVSKHFILKVLEPPHINGSEEHEEISV
  IVNNPLELTCIASGIPAPKMTWMKDGRPLPQTDQVQTLGGGEVLRISTAQVEDTGRYTCL
  ASSPAGDDDKEYLVRVHVPPNIAGTDEPRDITVLRNRQVTLECKSDAVPPPVITWLRNGE
  RLQATPRVRILSGGRYLQINNADLGDTANYTCVASNIAGKTTREFILTVNVPPNIKGGPQ
  SLVILLNKSTVLECIAEGVPTPRITWRKDGAVLAGNHARYSILENGFLHIQSAHVTDTGR
  YLCMATNAAGTDRRRIDLQVHVPPSIAPGPTNMTVIVNVQTTLACEATGIPKPSINWRKN
  GHLLNVDQNQNSYRLLSSGSLVIISPSVDDTATYECTVTNGAGDDKRTVDLTVQVPPSIA
  DEPTDFLVTKHAPAVITCTASGVPFPSIHWTKNGIRLLPRGDGYRILSSGAIEILATQLN
  HAGRYTCVARNAAGSAHRHVTLHVHEPPVIQPQPSELHVILNNPILLPCEATGTPSPFIT
  WQKEGINVNTSGRNHAVLPSGGLQISRAVREDAGTYMCVAQNPAGTALGKIKLNVQVPPV
  ISPHLKEYVIAVDKPITLSCEADGLPPPDITWHKDGRAIVESIRQRVLSSGSLQIAFVQP
  GDAGHYTCMAANVAGSSSTSTKLTVHVPPRIRSTEGHYTVNENSQAILPCVADGIPTPAI
  NWKKDNVLLANLLGKYTAEPYGELILENVVLEDSGFYTCVANNAAGEDTHTVSLTVHVLP
  TFTELPGDVSLNKGEQLRLSCKATGIPLPKLTWTFNNNIIPAHFDSVNGHSELVIERVSK
  EDSGTYVCTAENSVGFVKAIGFVYVKEPPVFKGDYPSNWIEPLGGNAILNCEVKGDPTPT
  IQWNRKGVDIEISHRIRQLGNGSLAIYGTVNEDAGDYTCVATNEAGVVERSMSLTLQSPP
  IITLEPVETVINAGGKIILNCQATGEPQPTITWSRQGHSISWDDRVNVLSNNSLYIADAQ
  KEDTSEFECVARNLMGSVLVRVPVIVQVHGGFSQWSAWRACSVTCGKGIQKRSRLCNQPL
  PANGGKPCQGSDLEMRNCQNKPCPVDGSWSEWSLWEECTRSCGRGNQTRTRTCNNPSVQH
  GGRPCEGNAVEIIMCNIRPCPVHGAWSAWQPWGTCSESCGKGTQTRARLCNNPPPAFGGS
  YCDGAETQMQVCNERNCPIHGKWATWASWSACSVSCGGGARQRTRGCSDPVPQYGGRKCE
  GSDVQSDFCNSDPCPTHGNWSPWSGWGTCSRTCNGGQMRRYRTCDNPPPSNGGRACGGPD
  SQIQRCNTDMCPVDGSWGSWHSWSQCSASCGGGEKTRKRLCDHPVPVKGGRPCPGDTTQV
  TRCNVQACPGGPQRARGSVIGNINDVEFGIAFLNATITDSPNSDTRIIRAKITNVPRSLG
  SAMRKIVSILNPIYWTTAKEIGEAVNGFTLTNAVFKRETQVEFATGEILQMSHIARGLDS
  DGSLLLDIVVSGYVLQLQSPAEVTVKDYTEDYIQTGPGQLYAYSTRLFTIDGISIPYTWN
  HTVFYDQAQGRMPFLVETLHASSVESDYNQIEETLGFKIHASISKGDRSNQCPSGFTLDS
  VGPFCADEDECAAGNPCSHSCHNAMGTYYCSCPKGLTIAADGRTCQDIDECALGRHTCHA
  GQDCDNTIGSYRCVVRCGSGFRRTSDGLSCQDINECQESSPCHQRCFNAIGSFHCGCEPG
  YQLKGRKCMDVNECRQNVCRPDQHCKNTRGGYKCIDLCPNGMTKAENGTCIDIDECKDGT
  HQCRYNQICENTRGSYRCVCPRGYRSQGVGRPCMDINECEQVPKPCAHQCSNTPGSFKCI
  CPPGQHLLGDGKSCAGLERLPNYGTQYSSYNLARFSPVRNNYQPQQHYRQYSHLYSSYSE
  YRNSRTSLSRTRRTIRKTCPEGSEASHDTCVDIDECENTDACQHECKNTFGSYQCICPPG
  YQLTHNGKTCQDIDECLEQNVHCGPNRMCFNMRGSYQCIDTPCPPNYQRDPVSGFCLKNC
  PPNDLECALSPYALEYKLVSLPFGIATNQDLIRLVAYTQDGVMHPRTTFLMVDEEQTVPF
  ALRDENLKGVVYTTRPLREAETYRMRVRASSYSANGTIEYQTTFIVYIAVSAYPY

• Sequence length: 5635

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
Age related macular degeneration 1	Pathogenic	rs879255520	RCV000201932	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (32)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ASTROCYTOMA	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	37296840	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	37069358	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign; Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance; Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HMCN1-related disorder	Benign; Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	27770636	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	40341939	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar GWAS catalog	40341939	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LUNG CARCINOMA	—	GWAS catalog	40341939	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macular degeneration	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar Disgenet	—	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MACULAR DEGENERATION, AGE-RELATED, 1	—	CTD, Disgenet CTD, Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR DEGENERATION, AGE-RELATED, 1, SUSCEPTIBILITY TO	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign; Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance; Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance; Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SECONDARY MALIGNANT NEOPLASM	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	40341939	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (32)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Age related macular degeneration	Age-related macular degeneration	BEFREE	14570714, 14691731, 14968411, 15370542, 15467524, 15761121, 16020313, 16885922, 17157600, 17216616, 17591627, 25986072		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	LHGDN	17057786, 17157600, 17591627		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	34888385, 39684297	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35886066	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	31638245		★☆☆☆☆ Found in Text Mining only
Cholecystolithiasis	Cholecystolithiasis	GWASDB_DG	17632509		★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	GWASDB_DG	17632509		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	20299368	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	20299368		★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Simplex	Epidermolysis bullosa	Pubtator	39976599	Associate	★☆☆☆☆ Found in Text Mining only
Geographic Atrophy	Geographic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type II	Glycogen Storage Disease	BEFREE	16020313, 17157600		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	29488390		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	29488390		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	14691731, 15467524, 16885922, 17057786, 31635417, 31792352	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Macular Degeneration, Age-Related, 1	Age-related macular degeneration	UNIPROT_DG	14570714		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macular Degeneration, Age-Related, 1	Age-related macular degeneration	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macular Degeneration, Age-Related, 1	Age-related macular degeneration	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	31638245		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30279964, 31638245		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	26545722	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	28209981		★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Age-related macular degeneration	Age-related macular degeneration	Orphanet			★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	31638245		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	35735060	Associate	★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	31570735	Associate	★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	BEFREE	29488390		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	26121316	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	26121316, 36849756	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	33827485, 38050871	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

RAX2 2 shared diseasesAge-related macular degeneration, Macular degeneration 3 shared evidence sourcesDisgenet (Age-related macular degeneration), Disgenet (Macular degeneration), CTD (Age-related macular degeneration) Related via 2 shared diseases including Age-related macular degeneration, Macular degeneration — evidence mostly Disgenet. CX3CR1 2 shared diseasesAge-related macular degeneration, Macular degeneration 3 shared evidence sourcesDisgenet (Age-related macular degeneration), Disgenet (Macular degeneration), CTD (Age-related macular degeneration) Related via 2 shared diseases including Age-related macular degeneration, Macular degeneration — evidence mostly Disgenet. SLC16A8 2 shared diseasesAge-related macular degeneration, Macular degeneration 1 shared evidence sourceDisgenet (Macular degeneration) Related via 2 shared diseases including Age-related macular degeneration, Macular degeneration — evidence mostly Disgenet. ARMS2 2 shared diseasesAge-related macular degeneration, Macular degeneration 3 shared evidence sourcesDisgenet (Age-related macular degeneration), Disgenet (Macular degeneration), CTD (Age-related macular degeneration) Related via 2 shared diseases including Age-related macular degeneration, Macular degeneration — evidence mostly Disgenet. KCNT2 2 shared diseasesAge-related macular degeneration, Macular degeneration Related via 2 shared diseases including Age-related macular degeneration, Macular degeneration.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
RAX2	2	["Age-related macular degeneration","Macular degeneration"]	0	[]	3	["Disgenet (Age-related macular degeneration)","Disgenet (Macular degeneration)","CTD (Age-related macular degeneration)"]
CX3CR1	2	["Age-related macular degeneration","Macular degeneration"]	0	[]	3	["Disgenet (Age-related macular degeneration)","Disgenet (Macular degeneration)","CTD (Age-related macular degeneration)"]
SLC16A8	2	["Age-related macular degeneration","Macular degeneration"]	0	[]	1	["Disgenet (Macular degeneration)"]
ARMS2	2	["Age-related macular degeneration","Macular degeneration"]	0	[]	3	["Disgenet (Age-related macular degeneration)","Disgenet (Macular degeneration)","CTD (Age-related macular degeneration)"]
KCNT2	2	["Age-related macular degeneration","Macular degeneration"]	0	[]	0	[]

Diseases Linked via Similar Genes

Atrophic macular degeneration Linked via 3 of 5 related genesSLC16A8, ARMS2, KCNT2 Retinal degeneration Linked via 2 of 5 related genesRAX2, CX3CR1 Glaucoma Linked via 2 of 5 related genesSLC16A8, ARMS2 Cone-rod dystrophy Linked via 1 of 5 related genesRAX2 Asthma Linked via 1 of 5 related genesCX3CR1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Atrophic macular degeneration	3	["SLC16A8","ARMS2","KCNT2"]
Retinal degeneration	2	["RAX2","CX3CR1"]
Glaucoma	2	["SLC16A8","ARMS2"]
Cone-rod dystrophy	1	["RAX2"]
Asthma	1	["CX3CR1"]