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	83872
Gene name	Hemicentin 1
Gene symbol	HMCN1
Synonyms (NCBI Gene)	ARMD1FBLN6FIBL-6FIBL6
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,

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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

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

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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

MIM	HGNC	e!Ensembl
608548	19194	ENSG00000143341

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

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

Show/Hide Unknown Diseases (32)

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.
ASTROCYTOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ 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	★★★★★ ★★☆☆☆ 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	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ 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	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ 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	★★★★★ ★★☆☆☆ 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	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ 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

Show/Hide Text Mining Associations (32)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
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

HMCN1 (hemicentin 1)