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

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	154664
Gene name	ATP binding cassette subfamily A member 13
Gene symbol	ABCA13
Synonyms (NCBI Gene)	-
Chromosome	7
Chromosome location	7p12.3
Summary	In human, the ATP-binding cassette (ABC) family of transmembrane transporters has at least 48 genes and 7 gene subfamilies. This gene is a member of ABC gene subfamily A (ABCA). Genes within the ABCA family typically encode several thousand amino acids. L

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SNP ID	Visualize variation	Clinical significance	Consequence
rs781126037	A>-,AA	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs797045205	T>C	Likely-pathogenic	Intron variant, splice donor variant, genic downstream transcript variant

191

Show/Hide all (191)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019469	hsa-miR-148b-3p	Microarray	17612493
MIRT441314	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT441314	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT757858	hsa-miR-1262	CLIP-seq
MIRT757859	hsa-miR-1827	CLIP-seq
MIRT757860	hsa-miR-2114	CLIP-seq
MIRT757861	hsa-miR-3150a-3p	CLIP-seq
MIRT757862	hsa-miR-3175	CLIP-seq
MIRT757863	hsa-miR-3613-3p	CLIP-seq
MIRT757864	hsa-miR-371b-5p	CLIP-seq
MIRT757865	hsa-miR-3929	CLIP-seq
MIRT757866	hsa-miR-4327	CLIP-seq
MIRT757867	hsa-miR-4419b	CLIP-seq
MIRT757868	hsa-miR-4455	CLIP-seq
MIRT757869	hsa-miR-4459	CLIP-seq
MIRT757870	hsa-miR-4478	CLIP-seq
MIRT757871	hsa-miR-4537	CLIP-seq
MIRT757872	hsa-miR-4649-3p	CLIP-seq
MIRT757873	hsa-miR-4667-5p	CLIP-seq
MIRT757874	hsa-miR-4695-5p	CLIP-seq
MIRT757875	hsa-miR-4700-5p	CLIP-seq
MIRT757876	hsa-miR-4701-3p	CLIP-seq
MIRT757877	hsa-miR-4722-5p	CLIP-seq
MIRT757878	hsa-miR-4731-5p	CLIP-seq
MIRT757879	hsa-miR-4768-3p	CLIP-seq
MIRT737953	hsa-miR-485-3p	CLIP-seq
MIRT757880	hsa-miR-485-5p	CLIP-seq
MIRT737954	hsa-miR-487a	CLIP-seq
MIRT757881	hsa-miR-514	CLIP-seq
MIRT757882	hsa-miR-514b-3p	CLIP-seq
MIRT757883	hsa-miR-542-3p	CLIP-seq
MIRT757884	hsa-miR-548c-3p	CLIP-seq
MIRT737952	hsa-miR-548g	CLIP-seq
MIRT757885	hsa-miR-549	CLIP-seq
MIRT757886	hsa-miR-644	CLIP-seq
MIRT757887	hsa-miR-665	CLIP-seq
MIRT757888	hsa-miR-939	CLIP-seq
MIRT757889	hsa-miR-940	CLIP-seq
MIRT757869	hsa-miR-4459	CLIP-seq
MIRT737953	hsa-miR-485-3p	CLIP-seq
MIRT737954	hsa-miR-487a	CLIP-seq
MIRT737952	hsa-miR-548g	CLIP-seq
MIRT757859	hsa-miR-1827	CLIP-seq
MIRT757860	hsa-miR-2114	CLIP-seq
MIRT757861	hsa-miR-3150a-3p	CLIP-seq
MIRT757862	hsa-miR-3175	CLIP-seq
MIRT1923546	hsa-miR-3689d	CLIP-seq
MIRT757865	hsa-miR-3929	CLIP-seq
MIRT1923547	hsa-miR-3974	CLIP-seq
MIRT1923548	hsa-miR-3976	CLIP-seq
MIRT757866	hsa-miR-4327	CLIP-seq
MIRT757867	hsa-miR-4419b	CLIP-seq
MIRT1923549	hsa-miR-4433	CLIP-seq
MIRT1923550	hsa-miR-4457	CLIP-seq
MIRT757869	hsa-miR-4459	CLIP-seq
MIRT757870	hsa-miR-4478	CLIP-seq
MIRT757871	hsa-miR-4537	CLIP-seq
MIRT757872	hsa-miR-4649-3p	CLIP-seq
MIRT757873	hsa-miR-4667-5p	CLIP-seq
MIRT757874	hsa-miR-4695-5p	CLIP-seq
MIRT757875	hsa-miR-4700-5p	CLIP-seq
MIRT1923551	hsa-miR-4719	CLIP-seq
MIRT757877	hsa-miR-4722-5p	CLIP-seq
MIRT757878	hsa-miR-4731-5p	CLIP-seq
MIRT757879	hsa-miR-4768-3p	CLIP-seq
MIRT1923552	hsa-miR-4786-5p	CLIP-seq
MIRT1923553	hsa-miR-4793-5p	CLIP-seq
MIRT1923554	hsa-miR-4794	CLIP-seq
MIRT757880	hsa-miR-485-5p	CLIP-seq
MIRT1923555	hsa-miR-513b	CLIP-seq
MIRT1923556	hsa-miR-550a	CLIP-seq
MIRT1923557	hsa-miR-624	CLIP-seq
MIRT757887	hsa-miR-665	CLIP-seq
MIRT757888	hsa-miR-939	CLIP-seq
MIRT757889	hsa-miR-940	CLIP-seq
MIRT757859	hsa-miR-1827	CLIP-seq
MIRT757860	hsa-miR-2114	CLIP-seq
MIRT2165019	hsa-miR-3145-3p	CLIP-seq
MIRT757861	hsa-miR-3150a-3p	CLIP-seq
MIRT757862	hsa-miR-3175	CLIP-seq
MIRT2165020	hsa-miR-3609	CLIP-seq
MIRT757865	hsa-miR-3929	CLIP-seq
MIRT757866	hsa-miR-4327	CLIP-seq
MIRT757867	hsa-miR-4419b	CLIP-seq
MIRT757869	hsa-miR-4459	CLIP-seq
MIRT757870	hsa-miR-4478	CLIP-seq
MIRT757871	hsa-miR-4537	CLIP-seq
MIRT757872	hsa-miR-4649-3p	CLIP-seq
MIRT757873	hsa-miR-4667-5p	CLIP-seq
MIRT757874	hsa-miR-4695-5p	CLIP-seq
MIRT757875	hsa-miR-4700-5p	CLIP-seq
MIRT1923551	hsa-miR-4719	CLIP-seq
MIRT757877	hsa-miR-4722-5p	CLIP-seq
MIRT757878	hsa-miR-4731-5p	CLIP-seq
MIRT757879	hsa-miR-4768-3p	CLIP-seq
MIRT757880	hsa-miR-485-5p	CLIP-seq
MIRT2165021	hsa-miR-548ah	CLIP-seq
MIRT1923556	hsa-miR-550a	CLIP-seq
MIRT757887	hsa-miR-665	CLIP-seq
MIRT757888	hsa-miR-939	CLIP-seq
MIRT757889	hsa-miR-940	CLIP-seq
MIRT757874	hsa-miR-4695-5p	CLIP-seq
MIRT2442888	hsa-miR-24	CLIP-seq
MIRT2442889	hsa-miR-3122	CLIP-seq
MIRT2442890	hsa-miR-3689a-3p	CLIP-seq
MIRT2442891	hsa-miR-3689c	CLIP-seq
MIRT1923546	hsa-miR-3689d	CLIP-seq
MIRT2442892	hsa-miR-3913-5p	CLIP-seq
MIRT2442893	hsa-miR-4283	CLIP-seq
MIRT2442894	hsa-miR-4328	CLIP-seq
MIRT2442895	hsa-miR-4437	CLIP-seq
MIRT2442896	hsa-miR-4488	CLIP-seq
MIRT2442897	hsa-miR-4684-5p	CLIP-seq
MIRT2442898	hsa-miR-4697-5p	CLIP-seq
MIRT2442899	hsa-miR-4728-5p	CLIP-seq
MIRT2442900	hsa-miR-4775	CLIP-seq
MIRT2442901	hsa-miR-520d-5p	CLIP-seq
MIRT2442902	hsa-miR-524-5p	CLIP-seq
MIRT757884	hsa-miR-548c-3p	CLIP-seq
MIRT2442903	hsa-miR-590-3p	CLIP-seq
MIRT2442897	hsa-miR-4684-5p	CLIP-seq
MIRT757884	hsa-miR-548c-3p	CLIP-seq
MIRT2466969	hsa-miR-147b	CLIP-seq
MIRT757859	hsa-miR-1827	CLIP-seq
MIRT2466970	hsa-miR-210	CLIP-seq
MIRT757860	hsa-miR-2114	CLIP-seq
MIRT2466971	hsa-miR-219-5p	CLIP-seq
MIRT2442889	hsa-miR-3122	CLIP-seq
MIRT757861	hsa-miR-3150a-3p	CLIP-seq
MIRT757862	hsa-miR-3175	CLIP-seq
MIRT2466972	hsa-miR-3180	CLIP-seq
MIRT2466973	hsa-miR-3180-3p	CLIP-seq
MIRT2466974	hsa-miR-3196	CLIP-seq
MIRT757863	hsa-miR-3613-3p	CLIP-seq
MIRT2442890	hsa-miR-3689a-3p	CLIP-seq
MIRT2442891	hsa-miR-3689c	CLIP-seq
MIRT1923546	hsa-miR-3689d	CLIP-seq
MIRT757864	hsa-miR-371b-5p	CLIP-seq
MIRT2442892	hsa-miR-3913-5p	CLIP-seq
MIRT757866	hsa-miR-4327	CLIP-seq
MIRT2466975	hsa-miR-4445	CLIP-seq
MIRT757869	hsa-miR-4459	CLIP-seq
MIRT2442896	hsa-miR-4488	CLIP-seq
MIRT757871	hsa-miR-4537	CLIP-seq
MIRT757873	hsa-miR-4667-5p	CLIP-seq
MIRT2442897	hsa-miR-4684-5p	CLIP-seq
MIRT757874	hsa-miR-4695-5p	CLIP-seq
MIRT2442898	hsa-miR-4697-5p	CLIP-seq
MIRT757875	hsa-miR-4700-5p	CLIP-seq
MIRT757877	hsa-miR-4722-5p	CLIP-seq
MIRT2442899	hsa-miR-4728-5p	CLIP-seq
MIRT757878	hsa-miR-4731-5p	CLIP-seq
MIRT757879	hsa-miR-4768-3p	CLIP-seq
MIRT2466976	hsa-miR-4782-3p	CLIP-seq
MIRT2466977	hsa-miR-508-3p	CLIP-seq
MIRT757884	hsa-miR-548c-3p	CLIP-seq
MIRT1923556	hsa-miR-550a	CLIP-seq
MIRT2466978	hsa-miR-636	CLIP-seq
MIRT757887	hsa-miR-665	CLIP-seq
MIRT2466979	hsa-miR-933	CLIP-seq
MIRT757888	hsa-miR-939	CLIP-seq
MIRT757889	hsa-miR-940	CLIP-seq
MIRT2466969	hsa-miR-147b	CLIP-seq
MIRT757859	hsa-miR-1827	CLIP-seq
MIRT2466970	hsa-miR-210	CLIP-seq
MIRT2466971	hsa-miR-219-5p	CLIP-seq
MIRT2442889	hsa-miR-3122	CLIP-seq
MIRT2466972	hsa-miR-3180	CLIP-seq
MIRT2466973	hsa-miR-3180-3p	CLIP-seq
MIRT2466974	hsa-miR-3196	CLIP-seq
MIRT2442890	hsa-miR-3689a-3p	CLIP-seq
MIRT2442891	hsa-miR-3689c	CLIP-seq
MIRT1923546	hsa-miR-3689d	CLIP-seq
MIRT2442892	hsa-miR-3913-5p	CLIP-seq
MIRT757866	hsa-miR-4327	CLIP-seq
MIRT2466975	hsa-miR-4445	CLIP-seq
MIRT757869	hsa-miR-4459	CLIP-seq
MIRT2442896	hsa-miR-4488	CLIP-seq
MIRT2442897	hsa-miR-4684-5p	CLIP-seq
MIRT757874	hsa-miR-4695-5p	CLIP-seq
MIRT2442898	hsa-miR-4697-5p	CLIP-seq
MIRT757877	hsa-miR-4722-5p	CLIP-seq
MIRT2442899	hsa-miR-4728-5p	CLIP-seq
MIRT757879	hsa-miR-4768-3p	CLIP-seq
MIRT2466976	hsa-miR-4782-3p	CLIP-seq
MIRT2466977	hsa-miR-508-3p	CLIP-seq
MIRT757884	hsa-miR-548c-3p	CLIP-seq
MIRT2466978	hsa-miR-636	CLIP-seq
MIRT757887	hsa-miR-665	CLIP-seq
MIRT2466979	hsa-miR-933	CLIP-seq
MIRT757889	hsa-miR-940	CLIP-seq

Show/Hide all (22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005319	Function	Lipid transporter activity	IBA
GO:0005524	Function	ATP binding	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006869	Process	Lipid transport	IBA
GO:0006869	Process	Lipid transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0030667	Component	Secretory granule membrane	IEA
GO:0030667	Component	Secretory granule membrane	TAS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032376	Process	Positive regulation of cholesterol transport	IDA	33478937
GO:0032376	Process	Positive regulation of cholesterol transport	IEA
GO:0035577	Component	Azurophil granule membrane	TAS
GO:0035627	Process	Ceramide transport	ISS
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IBA
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA
GO:0055085	Process	Transmembrane transport	IEA
GO:0097708	Component	Intracellular vesicle	IDA	33478937
GO:0140359	Function	ABC-type transporter activity	IEA
GO:1900244	Process	Positive regulation of synaptic vesicle endocytosis	ISS

MIM	HGNC	e!Ensembl
607807	14638	ENSG00000179869

Q86UQ4

Protein name

ATP-binding cassette sub-family A member 13 (EC 7.6.2.-)

Protein function

May mediate the cholesterol and gangliosides transport from the plasma membrane to intracellular vesicles in an ATP hydrolysis dependent manner, thus playing a role in their internalization by endocytic retrograde transport and may also particip

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12698	ABC2_membrane_3	3305 → 3772		Family
PF00005	ABC_tran	3858 → 4004	ABC transporter	Domain
PF12698	ABC2_membrane_3	4341 → 4674		Family
PF00005	ABC_tran	4737 → 4885	ABC transporter	Domain

Tissue specificity

TISSUE SPECIFICITY: Significantly expressed in the bone marrow, trachea, testis, thyroid and lung as well as in skin fibroblasts. {ECO:0000269|PubMed:12697998, ECO:0000269|PubMed:23266639}.

Sequence

MGHAGCQFKALLWKNWLCRLRNPVLFLAEFFWPCILFVILTVLRFQEPPRYRDICYLQPR
DLPSCGVIPFVQSLLCNTGSRCRNFSYEGSMEHHFRLSRFQTAADPKKVNNLAFLKEIQD
LAEEIHGMMDKAKNLKRLWVERSNTPDSSYGSSFFTMDLNKTEEVILKLESLHQQPHIWD
FLLLLPRLHTSHDHVEDGMDVAVNLLQTILNSLISLEDLDWLPLNQTFSQVSELVLNVTI
STLTFLQQHGVAVTEPVYHLSMQNIVWDPQKVQYDLKSQFGFDDLHTEQILNSSAELKEI
PTDTSLEKMVCSVLSSTSEDEAEKWGHVGGCHPKWSEAKNYLVHAVSWLRVYQQVFVQWQ
QGSLLQKTLTGMGHSLEALRNQFEEESKPWKVVEALHTALLLLNDSLSADGPKDNHTFPK
ILQHLWKLQSLLQNLPQWPALKRFLQLDGALRNAIAQNLHFVQEVLICLETSANDFKWFE
LNQLKLEKDVFFWELKQMLAKNAVCPNGRFSEKEVFLPPGNSSIWGGLQGLLCYCNSSET
SVLNKLLGSVEDADRILQEVITWHKNMSVLIPEEYLDWQELEMQLSEASLSCTRLFLLLG
ADPSPENDVFSSDCKHQLVSTVIFHTLEKTQFFLEQAYYWKAFKKFIRKTCEVAQYVNMQ
ESFQNRLLAFPEESPCFEENMDWKMISDNYFQFLNNLLKSPTASISRALNFTKHLLMMEK
KLHTLEDEQMNFLLSFVEFFEKLLLPNLFDSSIVPSFHSLPSLTEDILNISSLWTNHLKS
LKRDPSATDAQKLLEFGNEVIWKMQTLGSHWIRKEPKNLLRFIELILFEINPKLLELWAY
GISKGKRAKLENFFTLLNFSVPENEILSTSFNFSQLFHSDWPKSPAMNIDFVRLSEAIIT
SLHEFGFLEQEQISEALNTVYAIRNASDLFSALSEPQKQEVDKILTHIHLNVFQDKDSAL
LLQIYSSFYRYIYELLNIQSRGSSLTFLTQISKHILDIIKQFNFQNISKAFAFLFKTAEV
LGGISNVSYCQQLLSIFNFLELQAQSFMSTEGQELEVIHTTLTGLKQLLIIDEDFRISLF
QYMSQFFNSSVEDLLDNKCLISDNKHISSVNYSTSEESSFVFPLAQIFSNLSANVSVFNK
FMSIHCTVSWLQMWTEIWETISQLFKFDMNVFTSLHHGFTQLLDELEDDVKVSKSCQGIL
PTHNVARLILNLFKNVTQANDFHNWEDFLDLRDFLVALGNALVSVKKLNLEQVEKSLFTM
EAALHQLKTFPFNESTSREFLNSLLEVFIEFSSTSEYIVRNLDSINDFLSNNLTNYGEKF
ENIITELREAIVFLRNVSHDRDLFSCADIFQNVTECILEDGFLYVNTSQRMLRILDTLNS
TFSSENTISSLKGCIVWLDVINHLYLLSNSSFSQGHLQNILGNFRDIENKMNSILKIVTW
VLNIKKPLCSSNGSHINCVNIYLKDVTDFLNIVLTTVFEKEKKPKFEILLALLNDSTKQV
RMSINNLTTDFDFASQSNWRYFTELILRPIEMSDEIPNQFQNIWLHLITLGKEFQKLVKG
IYFNILENNSSSKTENLLNIFATSPKEKDVNSVGNSIYHLASYLAFSLSHDLQNSPKIII
SPEIMKATGLGIQLIRDVFNSLMPVVHHTSPQNAGYMQALKKVTSVMRTLKKADIDLLVD
QLEQVSVNLMDFFKNISSVGTGNLVVNLLVGLMEKFADSSHSWNVNHLLQLSRLFPKDVV
DAVIDVYYVLPHAVRLLQGVPGKNITEGLKDVYSFTLLHGITISNITKEDFAIVIKILLD
TIELVSDKPDIISEALACFPVVWCWNHTNSGFRQNSKIDPCNVHGLMSSSFYGKVASILD
HFHLSPQGEDSPCSNESSRMEITRKVVCIIHELVDWNSILLELSEVFHVNISLVKTVQKF
WHKILPFVPPSINQTRDSISELCPSGSIKQVALQIIEKLKNVNFTKVTSGENILDKLSSL
NKILNINEDTETSVQNIISSNLERTVQLISEDWSLEKSTHNLLSLFMMLQNANVTGSSLE
ALSSFIEKSETPYNFEELWPKFQQIMKDLTQDFRIRHLLSEMNKGIKSINSMALQKITLQ
FAHFLEILDSPSLKTLEIIEDFLLVTKNWLQEYANEDYSRMIETLFIPVTNESSTEDIAL
LAKAIATFWGSLKNISRAGNFDVAFLTHLLNQEQLTNFSVVQLLFENILINLINNLAGNS
QEAAWNLNDTDLQIMNFINLILNHMQSETSRKTVLSLRSIVDFTEQFLKTFFSLFLKEDS
ENKISLLLKYFHKDVIAEMSFVPKDKILEILKLDQFLTLMIQDRLMNIFSSLKETIYHLM
KSSFILDNGEFYFDTHQGLKFMQDLFNALLRETSMKNKTENNIDFFTVVSQLFFHVNKSE
DLFKLNQDLGSALHLVRECSTEMARLLDTILHSPNKDFYALYPTLQEVILANLTDLLFFI
NNSFPLRNRATLEITKRLVGAISRASEESHVLKPLLEMSGTLVMLLNDSADLRDLATSMD
SIVKLLKLVKKVSGKMSTVFKTHFISNTKDSVKFFDTLYSIMQQSVQNLVKEIATLKKID
HFTFEKINDLLVPFLDLAFEMIGVEPYISSNSDIFSMSPSILSYMNQSKDFSDILEEIAE
FLTSVKMNLEDMRSLAVAFNNETQTFSMDSVNLREEILGCLVPINNITNQMDFLYPNPIS
THSGPQDIKWEIIHEVIPFLDKILSQNSTEIGSFLKMVICLTLEALWKNLKKDNWNVSNV
LMTFTQHPNNLLKTIETVLEASSGIKSDYEGDLNKSLYFDTPLSQNITHHQLEKAIHNVL
SRIALWRKGLLFNNSEWITSTRTLFQPLFEIFIKATTGKNVTSEKEERTKKEMIDFPYSF
KPFFCLEKYLGGLFVLTKYWQQIPLTDQSVVEICEVFQQTVKPSEAMEMLQKVKMMVVRV
LTIVAENPSWTKDILCATLSCKQNGIRHLILSAIQGVTLAQDHFQEIEKIWSSPNQLNCE
SLSKNLSSTLESFKSSLENATGQDCTSQPRLETVQQHLYMLAKSLEETWSSGNPIMTFLS
NFTVTEDVKIKDLMKNITKLTEELRSSIQISNETIHSILEANISHSKVLFSALTVALSGK
CDQEILHLLLTFPKGEKSWIAAEELCSLPGSKVYSLIVLLSRNLDVRAFIYKTLMPSEAN
GLLNSLLDIVSSLSALLAKAQHVFEYLPEFLHTFKITALLETLDFQQVSQNVQARSSAFG
SFQFVMKMVCKDQASFLSDSNMFINLPRVKELLEDDKEKFNIPEDSTPFCLKLYQEILQL
PNGALVWTFLKPILHGKILYTPNTPEINKVIQKANYTFYIVDKLKTLSETLLEMSSLFQR
SGSGQMFNQLQEALRNKFVRNFVENQLHIDVDKLTEKLQTYGGLLDEMFNHAGAGRFRFL
GSILVNLSSCVALNRFQALQSVDILETKAHELLQQNSFLASIIFSNSLFDKNFRSESVKL
PPHVSYTIRTNVLYSVRTDVVKNPSWKFHPQNLPADGFKYNYVFAPLQDMIERAIILVQT
GQEALEPAAQTQAAPYPCHTSDLFLNNVGFFFPLIMMLTWMVSVASMVRKLVYEQEIQIE
EYMRMMGVHPVIHFLAWFLENMAVLTISSATLAIVLKTSGIFAHSNTFIVFLFLLDFGMS
VVMLSYLLSAFFSQANTAALCTSLVYMISFLPYIVLLVLHNQLSFVNQTFLCLLSTTAFG
QGVFFITFLEGQETGIQWNNMYQALEQGGMTFGWVCWMILFDSSLYFLCGWYLSNLIPGT
FGLRKPWYFPFTASYWKSVGFLVEKRQYFLSSSLFFFNENFDNKGSSLQNREGELEGSAP
GVTLVSVTKEYEGHKAVVQDLSLTFYRDQITALLGTNGAGKTTIISMLTGLHPPTSGTII
INGKNLQTDLSRVRMELGVCPQQDILLDNLTVREHLLLFASIKAPQWTKKELHQQVNQTL
QDVDLTQHQHKQTRALSGGLKRKLSLGIAFMGMSRTVVLDEPTSGVDPCSRHSLWDILLK
YREGRTIIFTTHHLDEAEALSDRVAVLQHGRLRCCGPPFCLKEAYGQGLRLTLTRQPSVL
EAHDLKDMACVTSLIKIYIPQAFLKDSSGSELTYTIPKDTDKACLKGLFQALDENLHQLH
LTGYGISDTTLEEVFLMLLQDSNKKSHIALGTESELQNHRPTGHLSGYCGSLARPATVQG
VQLLRAQVAAILARRLRRTLRAGKSTLADLLLPVLFVALAMGLFMVRPLATEYPPLRLTP
GHYQRAETYFFSSGGDNLDLTRVLLRKFRDQDLPCADLNPRQKNSSCWRTDPFSHPEFQD
SCGCLKCPNRSASAPYLTNHLGHTLLNLSGFNMEEYLLAPSEKPRLGGWSFGLKIPSEAG
GANGNISKPPTLAKVWYNQKGFHSLPSYLNHLNNLILWQHLPPTVDWRQYGITLYSHPYG
GALLNKDKILESIRQCGVALCIVLGFSILSASIGSSVVRDRVIGAKRLQHISGLGYRMYW
FTNFLYDMLFYLVSVCLCVAVIVAFQLTAFTFRKNLAATALLLSLFGYATLPWMYLMSRI
FSSSDVAFISYVSLNFIFGLCTMLITIMPRLLAIISKAKNLQNIYDVLKWVFTIFPQFCL
GQGLVELCYNQIKYDLTHNFGIDSYVSPFEMNFLGWIFVQLASQGTVLLLLRVLLHWDLL
RWPRGHSTLQGTVKSSKDTDVEKEEKRVFEGRTNGDILVLYNLSKHYRRFFQNIIAVQDI
SLGIPKGECFGLLGVNGAGKSTTFKMLNGEVSLTSGHAIIRTPMGDAVDLSSAGTAGVLI
GYCPQQDALDELLTGWEHLYYYCSLRGIPRQCIPEVAGDLIRRLHLEAHADKPVATYSGG
TKRKLSTALALVGKPDILLLDEPSSGMDPCSKRYLWQTIMKEVREGCAAVLTSHSMEECE
ALCTRLAIMVNGSFKCLGSPQHIKNRFGDGYTVKVWLCKEANQHCTVSDHLKLYFPGIQF
KGQHLNLLEYHVPKRWGCLADLFKVIENNKTFLNIKHYSINQTTLEQVFINFASEQQQTL
QSTLDPSTDSHHTHHLPI

Sequence length

5058

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 (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Intellectual disability without epilepsy	Likely pathogenic	rs773961513, rs2128749171	RCV003883225 RCV003883248	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Schizophrenia	Likely pathogenic	rs797045205	RCV000193300	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (25)

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.
ABCA13-related disorder	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ABCA13-related neurodevelopmental condition	Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Uncertain significance; Likely benign	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	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (37)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Asthma	Asthma	BEFREE	30655622		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	30655622	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	35811316	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	29092799, 30201574		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	30201574		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	19944402		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	19944402		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	19944402, 34947986	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	33334016	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	24504440	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	24504440	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	22294766		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	22294766		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	19944402		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28978010		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	19944402		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	19944402	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	19944402	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	36130209	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	29520610		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	29520610		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	36212177	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	27712136		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	19944402		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	27712136		★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	23221702		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	25889687	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Serous Adenocarcinoma	Ovarian serous adenocarcinoma	BEFREE	25889687		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	30201574		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	30655622	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	24504440, 28978010		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	19944402, 27712136		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Schizophrenia	Schizophrenia	PSYGENET_DG	19944402		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Schizophrenia	Schizophrenia	Pubtator	19944402, 34947986	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Schizophrenia	Schizophrenia	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Stomach Neoplasms	Stomach neoplasms	Pubtator	34728653, 36484990	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	27712136		★★★★★ ★☆☆☆☆ Found in Text Mining only

ABCA13 (ATP binding cassette subfamily A member 13)