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	7021
Gene name	Transcription factor AP-2 beta
Gene symbol	TFAP2B
Synonyms (NCBI Gene)	AP-2BAP-2betaAP2-BPDA2
Chromosome	6
Chromosome location	6p12.3
Summary	This gene encodes a member of the AP-2 family of transcription factors. AP-2 proteins form homo- or hetero-dimers with other AP-2 family members and bind specific DNA sequences. They are thought to stimulate cell proliferation and suppress terminal differ

Show/Hide all (12)

SNP ID	Visualize variation	Clinical significance	Consequence
rs35649205	CACACA>-,CA,CACA,CACACACA	Uncertain-significance, conflicting-interpretations-of-pathogenicity	3 prime UTR variant
rs80338910	C>G	Pathogenic	Intron variant, coding sequence variant, missense variant
rs80338911	G>A	Pathogenic	Intron variant
rs80338912	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs80338914	C>A	Pathogenic	Coding sequence variant, missense variant
rs80338915	G>A	Pathogenic	Coding sequence variant, missense variant
rs80338916	G>C	Pathogenic	Splice acceptor variant
rs80338917	C>T	Pathogenic	Coding sequence variant, missense variant
rs879253870	A>T	Pathogenic	Splice acceptor variant
rs879253871	CCGG>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1232197674	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1561964103	G>-	Pathogenic	Coding sequence variant, frameshift variant

191

Show/Hide all (191)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017509	hsa-miR-335-5p	Microarray	18185580
MIRT721702	hsa-miR-6733-3p	HITS-CLIP	19536157
MIRT721701	hsa-miR-4302	HITS-CLIP	19536157
MIRT721700	hsa-miR-221-5p	HITS-CLIP	19536157
MIRT721699	hsa-miR-8073	HITS-CLIP	19536157
MIRT721698	hsa-miR-3653-5p	HITS-CLIP	19536157
MIRT721697	hsa-miR-1976	HITS-CLIP	19536157
MIRT721696	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT721695	hsa-miR-6895-3p	HITS-CLIP	19536157
MIRT721694	hsa-miR-4276	HITS-CLIP	19536157
MIRT721693	hsa-miR-6843-3p	HITS-CLIP	19536157
MIRT721692	hsa-miR-6848-3p	HITS-CLIP	19536157
MIRT721691	hsa-miR-30a-3p	HITS-CLIP	19536157
MIRT721690	hsa-miR-30d-3p	HITS-CLIP	19536157
MIRT721689	hsa-miR-30e-3p	HITS-CLIP	19536157
MIRT721688	hsa-miR-6777-3p	HITS-CLIP	19536157
MIRT716956	hsa-miR-181d-3p	HITS-CLIP	19536157
MIRT716955	hsa-miR-885-5p	HITS-CLIP	19536157
MIRT716954	hsa-miR-6499-5p	HITS-CLIP	19536157
MIRT716953	hsa-miR-3189-5p	HITS-CLIP	19536157
MIRT716952	hsa-miR-4632-3p	HITS-CLIP	19536157
MIRT716956	hsa-miR-181d-3p	HITS-CLIP	19536157
MIRT716955	hsa-miR-885-5p	HITS-CLIP	19536157
MIRT716954	hsa-miR-6499-5p	HITS-CLIP	19536157
MIRT716953	hsa-miR-3189-5p	HITS-CLIP	19536157
MIRT716952	hsa-miR-4632-3p	HITS-CLIP	19536157
MIRT487450	hsa-miR-558	PAR-CLIP	20371350
MIRT487448	hsa-miR-6132	PAR-CLIP	20371350
MIRT487449	hsa-miR-6836-5p	PAR-CLIP	20371350
MIRT487447	hsa-miR-1909-3p	PAR-CLIP	20371350
MIRT487446	hsa-miR-6722-3p	PAR-CLIP	20371350
MIRT487445	hsa-miR-6731-5p	PAR-CLIP	20371350
MIRT487444	hsa-miR-8085	PAR-CLIP	20371350
MIRT487443	hsa-miR-6781-5p	PAR-CLIP	20371350
MIRT487442	hsa-miR-3175	PAR-CLIP	20371350
MIRT487441	hsa-miR-128-1-5p	PAR-CLIP	20371350
MIRT487440	hsa-miR-128-2-5p	PAR-CLIP	20371350
MIRT487438	hsa-miR-4723-5p	PAR-CLIP	20371350
MIRT487439	hsa-miR-5698	PAR-CLIP	20371350
MIRT487437	hsa-miR-6870-5p	PAR-CLIP	20371350
MIRT487436	hsa-miR-7111-5p	PAR-CLIP	20371350
MIRT487435	hsa-miR-6795-5p	PAR-CLIP	20371350
MIRT487434	hsa-miR-6887-5p	PAR-CLIP	20371350
MIRT487450	hsa-miR-558	PAR-CLIP	23592263
MIRT487448	hsa-miR-6132	PAR-CLIP	23592263
MIRT487449	hsa-miR-6836-5p	PAR-CLIP	23592263
MIRT487447	hsa-miR-1909-3p	PAR-CLIP	23592263
MIRT487446	hsa-miR-6722-3p	PAR-CLIP	23592263
MIRT487445	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT487444	hsa-miR-8085	PAR-CLIP	23592263
MIRT487443	hsa-miR-6781-5p	PAR-CLIP	23592263
MIRT487442	hsa-miR-3175	PAR-CLIP	23592263
MIRT487441	hsa-miR-128-1-5p	PAR-CLIP	23592263
MIRT487440	hsa-miR-128-2-5p	PAR-CLIP	23592263
MIRT487438	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT487439	hsa-miR-5698	PAR-CLIP	23592263
MIRT487437	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT487436	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT487435	hsa-miR-6795-5p	PAR-CLIP	23592263
MIRT487434	hsa-miR-6887-5p	PAR-CLIP	23592263
MIRT734716	hsa-miR-874-3p	Western blottingFlow cytometry	32067207
MIRT721702	hsa-miR-6733-3p	HITS-CLIP	19536157
MIRT721701	hsa-miR-4302	HITS-CLIP	19536157
MIRT721700	hsa-miR-221-5p	HITS-CLIP	19536157
MIRT721699	hsa-miR-8073	HITS-CLIP	19536157
MIRT721698	hsa-miR-3653-5p	HITS-CLIP	19536157
MIRT721697	hsa-miR-1976	HITS-CLIP	19536157
MIRT721696	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT721695	hsa-miR-6895-3p	HITS-CLIP	19536157
MIRT721694	hsa-miR-4276	HITS-CLIP	19536157
MIRT721693	hsa-miR-6843-3p	HITS-CLIP	19536157
MIRT721692	hsa-miR-6848-3p	HITS-CLIP	19536157
MIRT721691	hsa-miR-30a-3p	HITS-CLIP	19536157
MIRT721690	hsa-miR-30d-3p	HITS-CLIP	19536157
MIRT721689	hsa-miR-30e-3p	HITS-CLIP	19536157
MIRT721688	hsa-miR-6777-3p	HITS-CLIP	19536157
MIRT716956	hsa-miR-181d-3p	HITS-CLIP	19536157
MIRT716955	hsa-miR-885-5p	HITS-CLIP	19536157
MIRT716954	hsa-miR-6499-5p	HITS-CLIP	19536157
MIRT716953	hsa-miR-3189-5p	HITS-CLIP	19536157
MIRT716952	hsa-miR-4632-3p	HITS-CLIP	19536157
MIRT716956	hsa-miR-181d-3p	HITS-CLIP	19536157
MIRT716955	hsa-miR-885-5p	HITS-CLIP	19536157
MIRT716954	hsa-miR-6499-5p	HITS-CLIP	19536157
MIRT716953	hsa-miR-3189-5p	HITS-CLIP	19536157
MIRT716952	hsa-miR-4632-3p	HITS-CLIP	19536157
MIRT487450	hsa-miR-558	PAR-CLIP	20371350
MIRT487448	hsa-miR-6132	PAR-CLIP	20371350
MIRT487449	hsa-miR-6836-5p	PAR-CLIP	20371350
MIRT487447	hsa-miR-1909-3p	PAR-CLIP	20371350
MIRT487446	hsa-miR-6722-3p	PAR-CLIP	20371350
MIRT487445	hsa-miR-6731-5p	PAR-CLIP	20371350
MIRT487444	hsa-miR-8085	PAR-CLIP	20371350
MIRT487443	hsa-miR-6781-5p	PAR-CLIP	20371350
MIRT487442	hsa-miR-3175	PAR-CLIP	20371350
MIRT487441	hsa-miR-128-1-5p	PAR-CLIP	20371350
MIRT487440	hsa-miR-128-2-5p	PAR-CLIP	20371350
MIRT487438	hsa-miR-4723-5p	PAR-CLIP	20371350
MIRT487439	hsa-miR-5698	PAR-CLIP	20371350
MIRT487437	hsa-miR-6870-5p	PAR-CLIP	20371350
MIRT487436	hsa-miR-7111-5p	PAR-CLIP	20371350
MIRT487435	hsa-miR-6795-5p	PAR-CLIP	20371350
MIRT487434	hsa-miR-6887-5p	PAR-CLIP	20371350
MIRT487450	hsa-miR-558	PAR-CLIP	23592263
MIRT487448	hsa-miR-6132	PAR-CLIP	23592263
MIRT487449	hsa-miR-6836-5p	PAR-CLIP	23592263
MIRT487447	hsa-miR-1909-3p	PAR-CLIP	23592263
MIRT487446	hsa-miR-6722-3p	PAR-CLIP	23592263
MIRT487445	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT487444	hsa-miR-8085	PAR-CLIP	23592263
MIRT487443	hsa-miR-6781-5p	PAR-CLIP	23592263
MIRT487442	hsa-miR-3175	PAR-CLIP	23592263
MIRT487441	hsa-miR-128-1-5p	PAR-CLIP	23592263
MIRT487440	hsa-miR-128-2-5p	PAR-CLIP	23592263
MIRT487438	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT487439	hsa-miR-5698	PAR-CLIP	23592263
MIRT487437	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT487436	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT487435	hsa-miR-6795-5p	PAR-CLIP	23592263
MIRT487434	hsa-miR-6887-5p	PAR-CLIP	23592263
MIRT1419750	hsa-miR-141	CLIP-seq
MIRT1419751	hsa-miR-19a	CLIP-seq
MIRT1419752	hsa-miR-19b	CLIP-seq
MIRT1419753	hsa-miR-200a	CLIP-seq
MIRT1419754	hsa-miR-203	CLIP-seq
MIRT1419755	hsa-miR-204	CLIP-seq
MIRT1419756	hsa-miR-211	CLIP-seq
MIRT1419757	hsa-miR-27a	CLIP-seq
MIRT1419758	hsa-miR-27b	CLIP-seq
MIRT1419759	hsa-miR-3064-3p	CLIP-seq
MIRT1419760	hsa-miR-3123	CLIP-seq
MIRT1419761	hsa-miR-3148	CLIP-seq
MIRT1419762	hsa-miR-320a	CLIP-seq
MIRT1419763	hsa-miR-320b	CLIP-seq
MIRT1419764	hsa-miR-320c	CLIP-seq
MIRT1419765	hsa-miR-320d	CLIP-seq
MIRT1419766	hsa-miR-323b-3p	CLIP-seq
MIRT1419767	hsa-miR-3654	CLIP-seq
MIRT1419768	hsa-miR-3714	CLIP-seq
MIRT1419769	hsa-miR-3938	CLIP-seq
MIRT1419770	hsa-miR-3978	CLIP-seq
MIRT1419771	hsa-miR-4263	CLIP-seq
MIRT1419772	hsa-miR-4282	CLIP-seq
MIRT1419773	hsa-miR-4312	CLIP-seq
MIRT1419774	hsa-miR-4429	CLIP-seq
MIRT1419775	hsa-miR-4493	CLIP-seq
MIRT1419776	hsa-miR-4503	CLIP-seq
MIRT1419777	hsa-miR-4638-3p	CLIP-seq
MIRT1419778	hsa-miR-4733-5p	CLIP-seq
MIRT1419779	hsa-miR-4755-5p	CLIP-seq
MIRT1419780	hsa-miR-4793-5p	CLIP-seq
MIRT1419781	hsa-miR-4799-5p	CLIP-seq
MIRT1419782	hsa-miR-513a-5p	CLIP-seq
MIRT1419783	hsa-miR-570	CLIP-seq
MIRT1419784	hsa-miR-576-5p	CLIP-seq
MIRT1419785	hsa-miR-577	CLIP-seq
MIRT1419786	hsa-miR-606	CLIP-seq
MIRT1419787	hsa-miR-623	CLIP-seq
MIRT1419788	hsa-miR-944	CLIP-seq
MIRT2126096	hsa-miR-186	CLIP-seq
MIRT2126097	hsa-miR-3133	CLIP-seq
MIRT2126098	hsa-miR-3176	CLIP-seq
MIRT2126099	hsa-miR-3183	CLIP-seq
MIRT2126100	hsa-miR-330-3p	CLIP-seq
MIRT2126101	hsa-miR-371-5p	CLIP-seq
MIRT2126102	hsa-miR-371b-5p	CLIP-seq
MIRT2126103	hsa-miR-3922-3p	CLIP-seq
MIRT1419773	hsa-miR-4312	CLIP-seq
MIRT2126104	hsa-miR-4422	CLIP-seq
MIRT2126105	hsa-miR-4723-3p	CLIP-seq
MIRT2126106	hsa-miR-4795-3p	CLIP-seq
MIRT2126107	hsa-miR-514	CLIP-seq
MIRT2126108	hsa-miR-514b-3p	CLIP-seq
MIRT2348107	hsa-miR-3159	CLIP-seq
MIRT1419773	hsa-miR-4312	CLIP-seq
MIRT2348108	hsa-miR-4320	CLIP-seq
MIRT2461327	hsa-miR-3185	CLIP-seq
MIRT2461328	hsa-miR-3691-3p	CLIP-seq
MIRT2461329	hsa-miR-3909	CLIP-seq
MIRT2461330	hsa-miR-4709-3p	CLIP-seq
MIRT2461331	hsa-miR-671-5p	CLIP-seq
MIRT2640814	hsa-miR-1273e	CLIP-seq
MIRT2640815	hsa-miR-132	CLIP-seq
MIRT2640816	hsa-miR-212	CLIP-seq
MIRT2640817	hsa-miR-296-5p	CLIP-seq
MIRT2640818	hsa-miR-635	CLIP-seq
MIRT2640814	hsa-miR-1273e	CLIP-seq
MIRT2640815	hsa-miR-132	CLIP-seq
MIRT2640816	hsa-miR-212	CLIP-seq
MIRT2640817	hsa-miR-296-5p	CLIP-seq
MIRT2640818	hsa-miR-635	CLIP-seq

Show/Hide all (80)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	7559606
GO:0000785	Component	Chromatin	ISA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	7555706
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	7555706
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000987	Function	Cis-regulatory region sequence-specific DNA binding	IDA	16373396
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	7559606
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS
GO:0001822	Process	Kidney development	IEA
GO:0001822	Process	Kidney development	ISS
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	TAS	12072434
GO:0003682	Function	Chromatin binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	11505339, 12169688, 16373396
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	NAS	8661133
GO:0005515	Function	Protein binding	IPI	7555706, 11694877, 12072434, 12586840, 19115315, 32814053
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IC	12169688
GO:0005634	Component	Nucleus	IDA	20607706
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006006	Process	Glucose metabolic process	IMP	15940393, 16373396, 19325541
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0007399	Process	Nervous system development	IBA
GO:0007423	Process	Sensory organ development	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	17525748
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	20607706
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010842	Process	Retina layer formation	IEP	20607706
GO:0030510	Process	Regulation of BMP signaling pathway	IEA
GO:0030510	Process	Regulation of BMP signaling pathway	ISS
GO:0035136	Process	Forelimb morphogenesis	IEA
GO:0035136	Process	Forelimb morphogenesis	ISS
GO:0035137	Process	Hindlimb morphogenesis	IEA
GO:0035137	Process	Hindlimb morphogenesis	ISS
GO:0035909	Process	Aorta morphogenesis	IEA
GO:0035909	Process	Aorta morphogenesis	ISS
GO:0042127	Process	Regulation of cell population proliferation	IBA
GO:0042803	Function	Protein homodimerization activity	IPI	11505339
GO:0043066	Process	Negative regulation of apoptotic process	IBA
GO:0043066	Process	Negative regulation of apoptotic process	IDA	17525748
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043066	Process	Negative regulation of apoptotic process	ISS
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0043525	Process	Positive regulation of neuron apoptotic process	IDA	20607706
GO:0043565	Function	Sequence-specific DNA binding	IDA	11505339, 12169688
GO:0043588	Process	Skin development	IEA
GO:0045444	Process	Fat cell differentiation	IEA
GO:0045444	Process	Fat cell differentiation	IEP	16373396
GO:0045595	Process	Regulation of cell differentiation	IDA	20607706
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	20607706
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	11505339
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	16373396
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	7555706, 12169688
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046982	Function	Protein heterodimerization activity	IPI	11505339
GO:0048485	Process	Sympathetic nervous system development	IEA
GO:0048485	Process	Sympathetic nervous system development	ISS
GO:0048745	Process	Smooth muscle tissue development	IEA
GO:0050796	Process	Regulation of insulin secretion	IMP	15940393, 19325541
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0072017	Process	Distal tubule development	IEA
GO:0072017	Process	Distal tubule development	ISS
GO:0072044	Process	Collecting duct development	IEA
GO:0072044	Process	Collecting duct development	ISS
GO:0072210	Process	Metanephric nephron development	IEA
GO:0097070	Process	Ductus arteriosus closure	IEA
GO:0097070	Process	Ductus arteriosus closure	ISS
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
601601	11743	ENSG00000008196

Q92481

Protein name

Transcription factor AP-2-beta (AP2-beta) (Activating enhancer-binding protein 2-beta)

Protein function

Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes. AP-2 factors bind to the consensus sequence 5'-GCCNNNGGC-3' and activate genes involved in a la

PDB

8J0Q

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03299	TF_AP-2	230 → 424	Transcription factor AP-2	Family

Sequence

MHSPPRDQAAIMLWKLVENVKYEDIYEDRHDGVPSHSSRLSQLGSVSQGPYSSAPPLSHT
PSSDFQPPYFPPPYQPLPYHQSQDPYSHVNDPYSLNPLHQPQQHPWGQRQRQEVGSEAGS
LLPQPRAALPQLSGLDPRRDYHSVRRPDVLLHSAHHGLDAGMGDSLSLHGLGHPGMEDVQ
SVEDANNSGMNLLDQSVIKKVPVPPKSVTSLMMNKDGFLGGMSVNTGEVFCSVPGRLSLL
SSTSKYKVTVGEVQRRLSPPECLNASLLGGVLRRAKSKNGGRSLRERLEKIGLNLPAGRR
KAANVTLLTSLVEGEAVHLARDFGYICETEFPAKAVSEYLNRQHTDPSDLHSRKNMLLAT
KQLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLITHGFGAPAICAALTALQNY
LTEALKGMDKMFLNNTTTNRHTSGEGPGSKTGDKEEKHRK

Sequence length

460

Interactions

View interactions

	Reactome
			Negative regulation of activity of TFAP2 (AP-2) family transcription factors Activation of the TFAP2 (AP-2) family of transcription factors TFAP2 (AP-2) family regulates transcription of growth factors and their receptors

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Char syndrome	Likely pathogenic; Pathogenic	rs1325125531, rs80338914, rs80338917, rs80338912, rs80338915, rs80338910, rs759239606, rs80338911, rs1561964103	RCV001787312 RCV000008505 RCV000008506 RCV000008507 RCV000008508 RCV000008509 RCV000008510 RCV003388854 RCV000020531 RCV000735439
Chronic intestinal pseudoobstruction	Pathogenic	rs2113949539	RCV002259412
Craniosynostosis syndrome	Likely pathogenic	rs2113920409, rs2113937986, rs2113952620, rs2113960501	RCV001849683 RCV001849684 RCV001849685 RCV001849686
Patent ductus arteriosus 2	Pathogenic; Likely pathogenic	rs879253870, rs879253871, rs1377078499, rs80338911	RCV000235010 RCV000235012 RCV003989451 RCV000235013

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Bifid nasal tip	Uncertain significance	rs1057518947	RCV000415141
Cholangiocarcinoma	-	rs66462826	RCV005989615
Clinodactyly of the 5th finger	Uncertain significance	rs1057518947	RCV000415141
Hypertelorism	Uncertain significance	rs1057518947	RCV000415141
Opacification of the corneal stroma	Uncertain significance	rs1057518947	RCV000415141
TFAP2B-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	rs886061567, rs115226995, rs367843046	RCV003399849 RCV003932473 RCV003907286
Upslanted palpebral fissure	Uncertain significance	rs1057518947	RCV000415141

Show/Hide Text Mining Associations (47)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abdominal Injuries	Associate	31167208
Adenocarcinoma	Associate	11429425
Amelogenesis imperfecta local hypoplastic form	Associate	28381879
Anodontia	Associate	28381879
Anorexia	Associate	28948079
Aortic Valve Disease	Associate	28381879
Bone Diseases	Associate	15684060
Breast Carcinoma In Situ	Associate	34117603
Breast Neoplasms	Associate	34117603, 36533448
Bulimia Nervosa	Associate	28948079
Carcinogenesis	Associate	32856873
Carcinoma Non Small Cell Lung	Associate	21871297, 36123698
Carcinoma Renal Cell	Associate	20502531, 34621242, 34689221
Char syndrome	Associate	15684060, 24507797
Coronary Disease	Associate	19325541
Craniosynostoses	Associate	31292255
Diabetes Mellitus	Associate	32366963
Diabetes Mellitus Type 2	Associate	19325541, 23408462, 31167208
Ductus Arteriosus Patent	Associate	15684060, 19336370, 24507797, 27465141, 28381879, 33837257
Erythema Infectiosum	Associate	15684060
Esophageal Squamous Cell Carcinoma	Associate	24312652
Feeding and Eating Disorders	Associate	28948079
Fetal Alcohol Spectrum Disorders	Associate	24507797
Hypertriglyceridemic Waist	Associate	22952648
Insulin Resistance	Associate	19325541
Lung Neoplasms	Associate	17630431
Lymphatic Metastasis	Stimulate	32856873
MASS syndrome	Associate	36555747
Neoplasm Metastasis	Stimulate	32856873
Neoplasms	Associate	17630431, 24312652, 26929985, 32856873
Neoplasms	Inhibit	35246212
Neoplasms Adipose Tissue	Associate	19325541, 23408462
Neuroblastoma	Associate	26598443, 34772733, 35246212
Non alcoholic Fatty Liver Disease	Associate	36627697
Non Muscle Invasive Bladder Neoplasms	Associate	26929985
Obesity	Associate	21674055, 21778217, 23349760, 23408462, 25890290, 26800887, 27486100, 28025578, 28948079, 31167208, 34208363, 34621242, 39766774
Obesity	Inhibit	25890290
Overweight	Associate	23347264, 39766774
Parasomnias	Associate	15684060
Radiculopathy	Associate	28381879
Retinoblastoma	Associate	20607706
Rhabdomyosarcoma	Associate	24618610, 26168243, 31493794
Rhabdomyosarcoma Alveolar	Associate	26168243
Sleep Wake Disorders	Associate	15684060
Thyroid Cancer Papillary	Associate	32856873
Tooth Supernumerary	Associate	28381879
Weight Loss	Associate	22952648, 34208363, 36142109

TFAP2B (transcription factor AP-2 beta)