CECR2 (CECR2 histone acetyl-lysine reader)

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

Gene

• Entrez ID: 27443
• Gene name: CECR2 histone acetyl-lysine reader
• Gene symbol: CECR2
• Synonyms (NCBI Gene): -
• Chromosome: 22
• Chromosome location: 22q11.1-q11.21
• Summary: This gene encodes a bromodomain-containing protein that is involved in chromatin remodeling, and may additionally play a role in DNA damage response. The encoded protein functions as part of an ATP-dependent complex that is involved in neurulation. This g

miRNA Show/Hide all (253)

miRTarBase ID	miRNA	Experiments	Reference
MIRT048371	hsa-miR-29b-3p	CLASH	23622248
MIRT043615	hsa-miR-151a-3p	CLASH	23622248
MIRT041997	hsa-miR-484	CLASH	23622248
MIRT036153	hsa-miR-1296-5p	CLASH	23622248
MIRT514011	hsa-miR-6782-5p	PAR-CLIP	20371350
MIRT514010	hsa-miR-125a-3p	PAR-CLIP	20371350
MIRT514008	hsa-miR-3665	PAR-CLIP	20371350
MIRT514006	hsa-miR-6081	PAR-CLIP	20371350
MIRT514007	hsa-miR-6716-5p	PAR-CLIP	20371350
MIRT514005	hsa-miR-4651	PAR-CLIP	20371350
MIRT514004	hsa-miR-608	PAR-CLIP	20371350
MIRT514003	hsa-miR-363-5p	PAR-CLIP	20371350
MIRT514002	hsa-miR-6745	PAR-CLIP	20371350
MIRT514001	hsa-miR-6880-5p	PAR-CLIP	20371350
MIRT514012	hsa-miR-3936	PAR-CLIP	20371350
MIRT514011	hsa-miR-6782-5p	PAR-CLIP	20371350
MIRT514010	hsa-miR-125a-3p	PAR-CLIP	20371350
MIRT514009	hsa-miR-3160-3p	PAR-CLIP	20371350
MIRT514008	hsa-miR-3665	PAR-CLIP	20371350
MIRT514006	hsa-miR-6081	PAR-CLIP	20371350
MIRT514007	hsa-miR-6716-5p	PAR-CLIP	20371350
MIRT514005	hsa-miR-4651	PAR-CLIP	20371350
MIRT514004	hsa-miR-608	PAR-CLIP	20371350
MIRT514003	hsa-miR-363-5p	PAR-CLIP	20371350
MIRT514002	hsa-miR-6745	PAR-CLIP	20371350
MIRT514001	hsa-miR-6880-5p	PAR-CLIP	20371350
MIRT538583	hsa-miR-520e	PAR-CLIP	22012620
MIRT538582	hsa-miR-372-3p	PAR-CLIP	22012620
MIRT538581	hsa-miR-373-3p	PAR-CLIP	22012620
MIRT538580	hsa-miR-302e	PAR-CLIP	22012620
MIRT538579	hsa-miR-302d-3p	PAR-CLIP	22012620
MIRT538578	hsa-miR-302c-3p	PAR-CLIP	22012620
MIRT538577	hsa-miR-302b-3p	PAR-CLIP	22012620
MIRT538576	hsa-miR-302a-3p	PAR-CLIP	22012620
MIRT538575	hsa-miR-520a-3p	PAR-CLIP	22012620
MIRT538574	hsa-miR-520d-3p	PAR-CLIP	22012620
MIRT538573	hsa-miR-520c-3p	PAR-CLIP	22012620
MIRT538572	hsa-miR-520b	PAR-CLIP	22012620
MIRT538571	hsa-miR-4311	PAR-CLIP	22012620
MIRT538570	hsa-miR-890	PAR-CLIP	22012620
MIRT538569	hsa-miR-3125	PAR-CLIP	22012620
MIRT538568	hsa-miR-3916	PAR-CLIP	22012620
MIRT538567	hsa-miR-6859-5p	PAR-CLIP	22012620
MIRT538566	hsa-miR-3614-5p	PAR-CLIP	22012620
MIRT538565	hsa-miR-520g-5p	PAR-CLIP	22012620
MIRT538564	hsa-miR-1253	PAR-CLIP	22012620
MIRT538563	hsa-miR-766-5p	PAR-CLIP	22012620
MIRT538562	hsa-miR-877-5p	PAR-CLIP	22012620
MIRT538561	hsa-miR-3978	PAR-CLIP	22012620
MIRT538560	hsa-miR-4271	PAR-CLIP	22012620
MIRT514012	hsa-miR-3936	PAR-CLIP	23446348
MIRT514011	hsa-miR-6782-5p	PAR-CLIP	23446348
MIRT514010	hsa-miR-125a-3p	PAR-CLIP	23446348
MIRT514009	hsa-miR-3160-3p	PAR-CLIP	23446348
MIRT514008	hsa-miR-3665	PAR-CLIP	23446348
MIRT514006	hsa-miR-6081	PAR-CLIP	23446348
MIRT514007	hsa-miR-6716-5p	PAR-CLIP	23446348
MIRT514005	hsa-miR-4651	PAR-CLIP	23446348
MIRT514004	hsa-miR-608	PAR-CLIP	23446348
MIRT514003	hsa-miR-363-5p	PAR-CLIP	23446348
MIRT514002	hsa-miR-6745	PAR-CLIP	23446348
MIRT514001	hsa-miR-6880-5p	PAR-CLIP	23446348
MIRT514010	hsa-miR-125a-3p	PAR-CLIP	26701625
MIRT514010	hsa-miR-125a-3p	PAR-CLIP	26701625
MIRT514003	hsa-miR-363-5p	PAR-CLIP	26701625
MIRT514003	hsa-miR-363-5p	PAR-CLIP	26701625
MIRT514008	hsa-miR-3665	PAR-CLIP	26701625
MIRT514008	hsa-miR-3665	PAR-CLIP	26701625
MIRT514012	hsa-miR-3936	PAR-CLIP	26701625
MIRT514012	hsa-miR-3936	PAR-CLIP	26701625
MIRT514005	hsa-miR-4651	PAR-CLIP	26701625
MIRT514005	hsa-miR-4651	PAR-CLIP	26701625
MIRT514006	hsa-miR-6081	PAR-CLIP	26701625
MIRT514006	hsa-miR-6081	PAR-CLIP	26701625
MIRT514004	hsa-miR-608	PAR-CLIP	26701625
MIRT514004	hsa-miR-608	PAR-CLIP	26701625
MIRT514007	hsa-miR-6716-5p	PAR-CLIP	26701625
MIRT514007	hsa-miR-6716-5p	PAR-CLIP	26701625
MIRT514002	hsa-miR-6745	PAR-CLIP	26701625
MIRT514002	hsa-miR-6745	PAR-CLIP	26701625
MIRT514011	hsa-miR-6782-5p	PAR-CLIP	26701625
MIRT514011	hsa-miR-6782-5p	PAR-CLIP	26701625
MIRT514001	hsa-miR-6880-5p	PAR-CLIP	26701625
MIRT514001	hsa-miR-6880-5p	PAR-CLIP	26701625
MIRT514010	hsa-miR-125a-3p	PAR-CLIP	27292025
MIRT514003	hsa-miR-363-5p	PAR-CLIP	27292025
MIRT514008	hsa-miR-3665	PAR-CLIP	27292025
MIRT514012	hsa-miR-3936	PAR-CLIP	27292025
MIRT514005	hsa-miR-4651	PAR-CLIP	27292025
MIRT514006	hsa-miR-6081	PAR-CLIP	27292025
MIRT514004	hsa-miR-608	PAR-CLIP	27292025
MIRT514007	hsa-miR-6716-5p	PAR-CLIP	27292025
MIRT514002	hsa-miR-6745	PAR-CLIP	27292025
MIRT514011	hsa-miR-6782-5p	PAR-CLIP	27292025
MIRT514001	hsa-miR-6880-5p	PAR-CLIP	27292025
MIRT514011	hsa-miR-6782-5p	PAR-CLIP	20371350
MIRT514010	hsa-miR-125a-3p	PAR-CLIP	20371350
MIRT514008	hsa-miR-3665	PAR-CLIP	20371350
MIRT514006	hsa-miR-6081	PAR-CLIP	20371350
MIRT514007	hsa-miR-6716-5p	PAR-CLIP	20371350
MIRT514005	hsa-miR-4651	PAR-CLIP	20371350
MIRT514004	hsa-miR-608	PAR-CLIP	20371350
MIRT514003	hsa-miR-363-5p	PAR-CLIP	20371350
MIRT514002	hsa-miR-6745	PAR-CLIP	20371350
MIRT514001	hsa-miR-6880-5p	PAR-CLIP	20371350
MIRT514012	hsa-miR-3936	PAR-CLIP	20371350
MIRT514011	hsa-miR-6782-5p	PAR-CLIP	20371350
MIRT514010	hsa-miR-125a-3p	PAR-CLIP	20371350
MIRT514009	hsa-miR-3160-3p	PAR-CLIP	20371350
MIRT514008	hsa-miR-3665	PAR-CLIP	20371350
MIRT514006	hsa-miR-6081	PAR-CLIP	20371350
MIRT514007	hsa-miR-6716-5p	PAR-CLIP	20371350
MIRT514005	hsa-miR-4651	PAR-CLIP	20371350
MIRT514004	hsa-miR-608	PAR-CLIP	20371350
MIRT514003	hsa-miR-363-5p	PAR-CLIP	20371350
MIRT514002	hsa-miR-6745	PAR-CLIP	20371350
MIRT514001	hsa-miR-6880-5p	PAR-CLIP	20371350
MIRT538583	hsa-miR-520e	PAR-CLIP	22012620
MIRT538582	hsa-miR-372-3p	PAR-CLIP	22012620
MIRT538581	hsa-miR-373-3p	PAR-CLIP	22012620
MIRT538580	hsa-miR-302e	PAR-CLIP	22012620
MIRT538579	hsa-miR-302d-3p	PAR-CLIP	22012620
MIRT538578	hsa-miR-302c-3p	PAR-CLIP	22012620
MIRT538577	hsa-miR-302b-3p	PAR-CLIP	22012620
MIRT538576	hsa-miR-302a-3p	PAR-CLIP	22012620
MIRT538575	hsa-miR-520a-3p	PAR-CLIP	22012620
MIRT538574	hsa-miR-520d-3p	PAR-CLIP	22012620
MIRT538573	hsa-miR-520c-3p	PAR-CLIP	22012620
MIRT538572	hsa-miR-520b	PAR-CLIP	22012620
MIRT538571	hsa-miR-4311	PAR-CLIP	22012620
MIRT538570	hsa-miR-890	PAR-CLIP	22012620
MIRT538569	hsa-miR-3125	PAR-CLIP	22012620
MIRT538568	hsa-miR-3916	PAR-CLIP	22012620
MIRT538567	hsa-miR-6859-5p	PAR-CLIP	22012620
MIRT538566	hsa-miR-3614-5p	PAR-CLIP	22012620
MIRT538565	hsa-miR-520g-5p	PAR-CLIP	22012620
MIRT538564	hsa-miR-1253	PAR-CLIP	22012620
MIRT538563	hsa-miR-766-5p	PAR-CLIP	22012620
MIRT538562	hsa-miR-877-5p	PAR-CLIP	22012620
MIRT538561	hsa-miR-3978	PAR-CLIP	22012620
MIRT538560	hsa-miR-4271	PAR-CLIP	22012620
MIRT514012	hsa-miR-3936	PAR-CLIP	23446348
MIRT514011	hsa-miR-6782-5p	PAR-CLIP	23446348
MIRT514010	hsa-miR-125a-3p	PAR-CLIP	23446348
MIRT514009	hsa-miR-3160-3p	PAR-CLIP	23446348
MIRT514008	hsa-miR-3665	PAR-CLIP	23446348
MIRT514006	hsa-miR-6081	PAR-CLIP	23446348
MIRT514007	hsa-miR-6716-5p	PAR-CLIP	23446348
MIRT514005	hsa-miR-4651	PAR-CLIP	23446348
MIRT514004	hsa-miR-608	PAR-CLIP	23446348
MIRT514003	hsa-miR-363-5p	PAR-CLIP	23446348
MIRT514002	hsa-miR-6745	PAR-CLIP	23446348
MIRT514001	hsa-miR-6880-5p	PAR-CLIP	23446348
MIRT883477	hsa-miR-1258	CLIP-seq
MIRT883478	hsa-miR-125a-5p	CLIP-seq
MIRT883479	hsa-miR-125b	CLIP-seq
MIRT883480	hsa-miR-1321	CLIP-seq
MIRT883481	hsa-miR-181a	CLIP-seq
MIRT883482	hsa-miR-181b	CLIP-seq
MIRT883483	hsa-miR-181c	CLIP-seq
MIRT883484	hsa-miR-181d	CLIP-seq
MIRT883485	hsa-miR-1825	CLIP-seq
MIRT883486	hsa-miR-197	CLIP-seq
MIRT883487	hsa-miR-199a-5p	CLIP-seq
MIRT883488	hsa-miR-199b-5p	CLIP-seq
MIRT883489	hsa-miR-200b	CLIP-seq
MIRT883490	hsa-miR-200c	CLIP-seq
MIRT883491	hsa-miR-2114	CLIP-seq
MIRT883492	hsa-miR-2278	CLIP-seq
MIRT883493	hsa-miR-3065-5p	CLIP-seq
MIRT883494	hsa-miR-3117-3p	CLIP-seq
MIRT883495	hsa-miR-338-5p	CLIP-seq
MIRT883496	hsa-miR-346	CLIP-seq
MIRT883497	hsa-miR-34b	CLIP-seq
MIRT883498	hsa-miR-3660	CLIP-seq
MIRT883499	hsa-miR-374c	CLIP-seq
MIRT883500	hsa-miR-3924	CLIP-seq
MIRT883501	hsa-miR-3925-3p	CLIP-seq
MIRT883502	hsa-miR-4262	CLIP-seq
MIRT883503	hsa-miR-4267	CLIP-seq
MIRT883504	hsa-miR-4270	CLIP-seq
MIRT883505	hsa-miR-4274	CLIP-seq
MIRT883506	hsa-miR-429	CLIP-seq
MIRT883507	hsa-miR-4319	CLIP-seq
MIRT883508	hsa-miR-4441	CLIP-seq
MIRT883509	hsa-miR-4446-5p	CLIP-seq
MIRT883510	hsa-miR-4526	CLIP-seq
MIRT883511	hsa-miR-4659a-3p	CLIP-seq
MIRT883512	hsa-miR-4659b-3p	CLIP-seq
MIRT883513	hsa-miR-4677-3p	CLIP-seq
MIRT883514	hsa-miR-4679	CLIP-seq
MIRT883515	hsa-miR-4732-3p	CLIP-seq
MIRT883516	hsa-miR-4739	CLIP-seq
MIRT883517	hsa-miR-4755-5p	CLIP-seq
MIRT883518	hsa-miR-4756-5p	CLIP-seq
MIRT883519	hsa-miR-483-3p	CLIP-seq
MIRT883520	hsa-miR-508-5p	CLIP-seq
MIRT883521	hsa-miR-512-3p	CLIP-seq
MIRT883522	hsa-miR-548aa	CLIP-seq
MIRT883523	hsa-miR-548c-3p	CLIP-seq
MIRT883524	hsa-miR-548t	CLIP-seq
MIRT883525	hsa-miR-577	CLIP-seq
MIRT883526	hsa-miR-622	CLIP-seq
MIRT883527	hsa-miR-655	CLIP-seq
MIRT883528	hsa-miR-670	CLIP-seq
MIRT883529	hsa-miR-711	CLIP-seq
MIRT1961974	hsa-miR-1200	CLIP-seq
MIRT1961975	hsa-miR-1244	CLIP-seq
MIRT1961976	hsa-miR-127-5p	CLIP-seq
MIRT883480	hsa-miR-1321	CLIP-seq
MIRT1961977	hsa-miR-138	CLIP-seq
MIRT1961978	hsa-miR-1976	CLIP-seq
MIRT883492	hsa-miR-2278	CLIP-seq
MIRT1961979	hsa-miR-3158-3p	CLIP-seq
MIRT1961980	hsa-miR-3179	CLIP-seq
MIRT1961981	hsa-miR-3202	CLIP-seq
MIRT1961982	hsa-miR-325	CLIP-seq
MIRT883496	hsa-miR-346	CLIP-seq
MIRT883498	hsa-miR-3660	CLIP-seq
MIRT1961983	hsa-miR-3688-5p	CLIP-seq
MIRT1961984	hsa-miR-3934	CLIP-seq
MIRT883503	hsa-miR-4267	CLIP-seq
MIRT883504	hsa-miR-4270	CLIP-seq
MIRT883505	hsa-miR-4274	CLIP-seq
MIRT1961985	hsa-miR-4278	CLIP-seq
MIRT1961986	hsa-miR-4324	CLIP-seq
MIRT883508	hsa-miR-4441	CLIP-seq
MIRT1961987	hsa-miR-4446-3p	CLIP-seq
MIRT1961988	hsa-miR-4456	CLIP-seq
MIRT1961989	hsa-miR-4470	CLIP-seq
MIRT1961990	hsa-miR-4474-5p	CLIP-seq
MIRT1961991	hsa-miR-4476	CLIP-seq
MIRT1961992	hsa-miR-4481	CLIP-seq
MIRT1961993	hsa-miR-4492	CLIP-seq
MIRT1961994	hsa-miR-4498	CLIP-seq
MIRT883510	hsa-miR-4526	CLIP-seq
MIRT1961995	hsa-miR-4733-3p	CLIP-seq
MIRT883516	hsa-miR-4739	CLIP-seq
MIRT1961996	hsa-miR-4745-5p	CLIP-seq
MIRT883518	hsa-miR-4756-5p	CLIP-seq
MIRT1961997	hsa-miR-4798-5p	CLIP-seq
MIRT1961998	hsa-miR-544b	CLIP-seq
MIRT1961999	hsa-miR-552	CLIP-seq
MIRT1962000	hsa-miR-564	CLIP-seq
MIRT883526	hsa-miR-622	CLIP-seq
MIRT1962001	hsa-miR-628-3p	CLIP-seq
MIRT1962002	hsa-miR-762	CLIP-seq
MIRT1962003	hsa-miR-764	CLIP-seq
MIRT1961984	hsa-miR-3934	CLIP-seq
MIRT1961985	hsa-miR-4278	CLIP-seq
MIRT1961995	hsa-miR-4733-3p	CLIP-seq
MIRT1961999	hsa-miR-552	CLIP-seq
MIRT1962003	hsa-miR-764	CLIP-seq

Gene ontology (GO) Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000791	Component	Euchromatin	IEA
GO:0001842	Process	Neural fold formation	IEA
GO:0001843	Process	Neural tube closure	IEA
GO:0005515	Function	Protein binding	IPI	12762840
GO:0005634	Component	Nucleus	IDA	12762840, 25593309
GO:0005634	Component	Nucleus	IEA
GO:0006309	Process	Apoptotic DNA fragmentation	TAS	12762840
GO:0006325	Process	Chromatin organization	IEA
GO:0006338	Process	Chromatin remodeling	IDA	15640247
GO:0006338	Process	Chromatin remodeling	IEA
GO:0007010	Process	Cytoskeleton organization	NAS	11827465
GO:0007338	Process	Single fertilization	IBA
GO:0007338	Process	Single fertilization	IEA
GO:0016192	Process	Vesicle-mediated transport	NAS	11827465
GO:0021915	Process	Neural tube development	IEA
GO:0031010	Component	ISWI-type complex	IEA
GO:0060122	Process	Inner ear receptor cell stereocilium organization	IEA
GO:0061640	Process	Cytoskeleton-dependent cytokinesis	NAS	11827465
GO:0090102	Process	Cochlea development	IEA
GO:0090537	Component	CERF complex	IBA
GO:0090537	Component	CERF complex	IDA	15640247
GO:0090537	Component	CERF complex	IEA
GO:0090537	Component	CERF complex	IPI	15640247
GO:0097194	Process	Execution phase of apoptosis	IDA	12762840
GO:0140658	Function	ATP-dependent chromatin remodeler activity	IDA	15640247

Other IDs

• MIM: 607576
• HGNC: 1840
• e!Ensembl: ENSG00000099954

Protein

• UniProt ID: Q9BXF3
• Protein name: Chromatin remodeling regulator CECR2 (Cat eye syndrome critical region protein 2)
• Protein function: Regulatory subunit of the ATP-dependent CERF-1 and CERF-5 ISWI chromatin remodeling complexes, which form ordered nucleosome arrays on chromatin and facilitate access to DNA during DNA-templated processes such as DNA replication, transcription,
• PDB: 3NXB , 5V84 , 8RU1
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00439	Bromodomain	443 → 526	Bromodomain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in skeletal muscle, thymus, placenta and lung. Expressed at lower level in brain, heart, colon, spleen, kidney.
• Sequence:

  MCPEEGGAAGLGELRSWWEVPAIAHFCSLFRTAFRLPDFEIEELEAALHRDDVEFISDLI
  ACLLQGCYQRRDITPQTFHSYLEDIINYRWELEEGKPNPLREASFQDLPLRTRVEILHRL
  CDYRLDADDVFDLLKGLDADSLRVEPLGEDNSGALYWYFYGTRMYKEDPVQGKSNGELSL
  SRESEGQKNVSSIPGKTGKRRGRPPKRKKLQEEILLSEKQEENSLASEPQTRHGSQGPGQ
  GTWWLLCQTEEEWRQVTESFRERTSLRERQLYKLLSEDFLPEICNMIAQKGKRPQRTKAE
  LHPRWMSDHLSIKPVKQEETPVLTRIEKQKRKEEEEERQILLAVQKKEQEQMLKEERKRE
  LEEKVKAVEGMCSVRVVWRGACLSTSRPVDRAKRRKLREERAWLLAQGKELPPELSHLDP
  NSPMREEKKTKDLFELDDDFTAMYKVLDVVKAHKDSWPFLEPVDESYAPNYYQIIKAPMD
  ISSMEKKLNGGLYCTKEEFVNDMKTMFRNCRKYNGESSEYTKMSDNLERCFHRAMMKHFP
  GEDGDTDEEFWIREDEKREKRRSRAGRSGGSHVWTRSRDPEGSSRKQQPMENGGKSLPPT
  RRAPSSGDDQSSSSTQPPREVGTSNGRGFSHPLHCGGTPSQAPFLNQMRPAVPGTFGPLR
  GSDPATLYGSSGVPEPHPGEPVQQRQPFTMQPPVGINSLRGPRLGTPEEKQMCGGLTHLS
  NMGPHPGSLQLGQISGPSQDGSMYAPAQFQPGFIPPRHGGAPARPPDFPESSEIPPSHMY
  RSYKYLNRVHSAVWNGNHGATNQGPLGPDEKPHLGPGPSHQPRTLGHVMDSRVMRPPVPP
  NQWTEQSGFLPHGVPSSGYMRPPCKSAGHRLQPPPVPAPSSLFGAPAQALRGVQGGDSMM
  DSPEMIAMQQLSSRVCPPGVPYHPHQPAHPRLPGPFPQVAHPMSVTVSAPKPALGNPGRA
  PENSEAQEPENDQAEPLPGLEEKPPGVGTSEGVYLTQLPHPTPPLQTDCTRQSSPQERET
  VGPELKSSSSESADNCKAMKGKNPWPSDSSYPGPAAQGCVRDLSTVADRGALSENGVIGE
  ASPCGSEGKGLGSSGSEKLLCPRGRTLQETMPCTGQNAATPPSTDPGLTGGTVSQFPPLY
  MPGLEYPNSAAHYHISPGLQGVGPVMGGKSPASHPQHFPPRGFQSNHPHSGGFPRYRPPQ
  GMRYSYHPPPQPSYHHYQRTPYYACPQSFSDWQRPLHPQGSPSGPPASQPPPPRSLFSDK
  NAMASLQGCETLNAALTSPTRMDAVAAKVPNDGQNPGPEEEKLDESMERPESPKEFLDLD
  NHNAATKRQSSLSASEYLYGTPPPLSSGMGFGSSAFPPHSVMLQTGPPYTPQRPASHFQP
  RAYSSPVAALPPHHPGATQPNGLSQEGPIYRCQEEGLGHFQAVMMEQIGTRSGIRGPFQE
  MYRPSGMQMHPVQSQASFPKTPTAATSQEEVPPHKPPTLPLDQS

• Sequence length: 1484

Pathways

KEGG Pathway:

ATP-dependent chromatin remodeling

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)

Unknown / Other Associations Show/Hide Unknown Diseases (15)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
CECR2-related neurodevelopmental disorder	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC KETOACIDOSIS	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURAL TUBE DEFECT, FOLATE-SENSITIVE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURAL TUBE DEFECTS	—	CTD	15640247	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURAL TUBE DEFECTS X-LINKED	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN CANCER	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN NEOPLASM	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (16)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acrania	Acrania	CTD_human_DG	15640247		★☆☆☆☆ Found in Text Mining only
Anus Imperforate	Imperforate anus	Pubtator	22395867	Associate	★☆☆☆☆ Found in Text Mining only
Cat eye syndrome	Cat Eye Syndrome	BEFREE	16915592		★☆☆☆☆ Found in Text Mining only
Craniorachischisis	Craniorachischisis	CTD_human_DG	15640247		★☆☆☆☆ Found in Text Mining only
Diastematomyelia	Diastematomyelia	CTD_human_DG	15640247		★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	DiGeorge Syndrome	BEFREE	16915592		★☆☆☆☆ Found in Text Mining only
Exencephaly	Anencephaly	CTD_human_DG	15640247		★☆☆☆☆ Found in Text Mining only
Exencephaly	Anencephaly	BEFREE	17623803, 21246654, 22045912		★☆☆☆☆ Found in Text Mining only
Iniencephaly	Anencephaly	CTD_human_DG	15640247		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	CTD_human_DG	15640247		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neural Tube Defects	Neural Tube Defect	BEFREE	17623803, 21246654, 22045912, 27768235		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurenteric Cyst	Neurenteric Cyst	CTD_human_DG	15640247		★☆☆☆☆ Found in Text Mining only
Shprintzen-Goldberg syndrome	Shprintzen-Goldberg Syndrome	BEFREE	16915592		★☆☆☆☆ Found in Text Mining only
Spinal Cord Myelodysplasia	Spinal Cord Myelodysplasia	CTD_human_DG	15640247		★☆☆☆☆ Found in Text Mining only
Tethered Cord Syndrome	Primary Tethered cord syndrome	CTD_human_DG	15640247		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

FOLR2 2 shared diseasesNeural tube defect, Neural tube defects, x-linked 3 shared evidence sourcesCTD (Neural tube defect), Disgenet (Neural tube defect), Disgenet (Neural tube defects, x-linked) Related via 2 shared diseases including Neural tube defect, Neural tube defects, x-linked — evidence mostly Disgenet. FAM217A 2 shared diseasesSkin neoplasms, Skin cancer 2 shared evidence sourcesGWAS catalog (Skin neoplasms), GWAS catalog (Skin cancer) Related via 2 shared diseases including Skin neoplasms, Skin cancer — evidence mostly GWAS catalog. PRP4K 2 shared diseasesSkin neoplasms, Skin cancer 2 shared evidence sourcesGWAS catalog (Skin neoplasms), GWAS catalog (Skin cancer) Related via 2 shared diseases including Skin neoplasms, Skin cancer — evidence mostly GWAS catalog. ZIC5 2 shared diseasesNeural tube defect, Neural tube defects, x-linked 3 shared evidence sourcesCTD (Neural tube defect), Disgenet (Neural tube defect), Disgenet (Neural tube defects, x-linked) Related via 2 shared diseases including Neural tube defect, Neural tube defects, x-linked — evidence mostly Disgenet. DCST1 2 shared diseasesSkin neoplasms, Skin cancer 2 shared evidence sourcesGWAS catalog (Skin neoplasms), GWAS catalog (Skin cancer) Related via 2 shared diseases including Skin neoplasms, Skin cancer — evidence mostly GWAS catalog.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
FOLR2	2	["Neural tube defect","Neural tube defects, x-linked"]	0	[]	3	["CTD (Neural tube defect)","Disgenet (Neural tube defect)","Disgenet (Neural tube defects, x-linked)"]
FAM217A	2	["Skin neoplasms","Skin cancer"]	0	[]	2	["GWAS catalog (Skin neoplasms)","GWAS catalog (Skin cancer)"]
PRP4K	2	["Skin neoplasms","Skin cancer"]	0	[]	2	["GWAS catalog (Skin neoplasms)","GWAS catalog (Skin cancer)"]
ZIC5	2	["Neural tube defect","Neural tube defects, x-linked"]	0	[]	3	["CTD (Neural tube defect)","Disgenet (Neural tube defect)","Disgenet (Neural tube defects, x-linked)"]
DCST1	2	["Skin neoplasms","Skin cancer"]	0	[]	2	["GWAS catalog (Skin neoplasms)","GWAS catalog (Skin cancer)"]

Diseases Linked via Similar Genes

Autism Linked via 1 of 5 related genesFOLR2 Nonalcoholic fatty liver disease Linked via 1 of 5 related genesFOLR2 Alzheimer disease Linked via 1 of 5 related genesZIC5 Hepatocellular carcinoma Linked via 1 of 5 related genesZIC5 Craniofacial abnormalities Linked via 1 of 5 related genesZIC5

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Autism	1	["FOLR2"]
Nonalcoholic fatty liver disease	1	["FOLR2"]
Alzheimer disease	1	["ZIC5"]
Hepatocellular carcinoma	1	["ZIC5"]
Craniofacial abnormalities	1	["ZIC5"]