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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways 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

	KEGG		Reactome
	ABC transporters		Neutrophil degranulation

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Intellectual disability without epilepsy	Likely pathogenic	rs773961513, rs2128749171	RCV003883225 RCV003883248
Schizophrenia	Likely pathogenic	rs797045205	RCV000193300

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
ABCA13-related disorder	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	rs190625179, rs185694250, rs1798223097, rs1409702355, rs936195456, rs117649711, rs183358970, rs200226711, rs191015288, rs190991016, rs141576983, rs141067757, rs79049908, rs148827015, rs200287381, rs779606645, rs181907450, rs188058983 View all (3 more)	RCV003906603 RCV003936669 RCV003419170 RCV003427964 RCV003402717 RCV003966426 RCV003939018 RCV003966424 RCV003966425 RCV003929166 RCV003947368 RCV003961374 RCV003951463 RCV003949538 RCV003924275 RCV003942246 RCV003970796 RCV003962864
ABCA13-related neurodevelopmental condition	Uncertain significance; Benign; Likely benign	rs749326271, rs181907450	RCV005864696 RCV005864536
Acute myeloid leukemia	Benign	rs142391487	RCV005907837
Clear cell carcinoma of kidney	Likely benign; Benign	rs141576983, rs142391487	RCV005933429 RCV005907838
EBV-positive nodal T- and NK-cell lymphoma	Uncertain significance; Likely benign	rs200382482, rs2535301045	RCV004560082 RCV004557804
Familial pancreatic carcinoma	Likely benign	rs141576983	RCV005933430
Gastric cancer	Uncertain significance	rs185694250	RCV005928975
Hepatocellular carcinoma	Likely benign	rs141576983	RCV005933426
Lung cancer	Benign	rs142391487	RCV005907841
Malignant lymphoma, large B-cell, diffuse	Benign	rs78734445	RCV005927474
Malignant tumor of esophagus	Likely benign; Benign	rs61737750, rs141576983, rs186683711	RCV005927476 RCV005933427 RCV005907957
Malignant tumor of urinary bladder	Uncertain significance; Likely benign	rs201830095, rs371675186, rs141576983	RCV005928850 RCV005927472 RCV005933425
Melanoma	Benign	rs142391487	RCV005907840
Nonpapillary renal cell carcinoma	Benign; Likely benign	rs78734445, rs141576983	RCV005927473 RCV005933428
Ovarian serous cystadenocarcinoma	Benign	rs78734445, rs142391487	RCV005927475 RCV005907839
Thyroid cancer, nonmedullary, 1	Likely benign; Conflicting classifications of pathogenicity	rs61737750, rs376510526	RCV005927477 RCV005927471

Show/Hide Text Mining Associations (17)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Asthma	Associate	30655622
Autism Spectrum Disorder	Associate	35811316
Bipolar Disorder	Associate	19944402, 34947986
Breast Neoplasms	Associate	33334016
Carcinogenesis	Inhibit	24504440
Carcinoma Renal Cell	Inhibit	24504440
Choroidal Effusions	Associate	25889687
Chromosome Aberrations	Associate	19944402
Depressive Disorder	Associate	19944402
Depressive Disorder Major	Associate	19944402
Diabetes Mellitus	Associate	36130209
Leukemia Myeloid Acute	Associate	36212177
Ovarian Neoplasms	Associate	25889687
Pulmonary Disease Chronic Obstructive	Associate	30655622
Rectal Neoplasms	Associate	31521947
Schizophrenia	Associate	19944402, 34947986
Stomach Neoplasms	Associate	34728653, 36484990

ABCA13 (ATP binding cassette subfamily A member 13)