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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	83872
Gene name Gene Name - the full gene name approved by the HGNC.	Hemicentin 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	HMCN1
Synonyms (NCBI Gene) Gene synonyms aliases	ARMD1, FBLN6, FIBL-6, FIBL6
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1q25.3-q31.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

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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

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
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

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Age-related macular degeneration	Age related macular degeneration 1	rs879255520	N/A

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Astrocytoma	Astrocytoma	N/A	N/A	GWAS
Glioblastoma	Glioblastoma	N/A	N/A	GWAS
Macular Degeneration	macular degeneration	N/A	N/A	ClinVar
Oligodendroglioma	Oligodendroglioma	N/A	N/A	GWAS

Show/Hide Text Mining Associations (14)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma	Associate	30720096
Breast Neoplasms	Associate	34888385, 39684297
Carcinoma Renal Cell	Associate	35886066
Diabetic Nephropathies	Associate	20299368
Epidermolysis Bullosa Simplex	Associate	39976599
Fibroma	Associate	26121316
Macular Degeneration	Associate	14691731, 15467524, 16885922, 17057786, 31635417, 31792352
Multiple Myeloma	Associate	26545722
Neoplasms	Associate	30720096, 35886066
Ovarian Neoplasms	Associate	35735060
Peritonitis	Associate	31570735
Sarcoma	Associate	26121316
Sarcoma Ewing	Associate	26121316, 36849756
Stomach Neoplasms	Associate	33827485, 38050871

HMCN1 (hemicentin 1)