full name
Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2

synonyms
ASD8, MRG-1, MRG1, P35SRJ, VSD2, CITED2, ENSG00000164442

HGNC
HGNC:1987

Entrez Gene
Gene:10370

ENSEMBL
ENSG00000164442

location
chr: 6
start: 139693392
stop: 139695787
strand: -

OMIM
OMIM:602937: CITED2 (Autosomal dominant inheritance)
OMIM:614433: Atrial septal defect 8
OMIM:614431: Ventricular septal defect 2

transcripts
NM_006079.4
NM_001168388.2
NM_001168389.2

pathways
Activation of the TFAP2 (AP-2) family of transcription factors [NCBI:1427840] [REACTOME:R-HSA-8866907] [PUBMED:10497269] [PUBMED:1998122] [PUBMED:11694877] [PUBMED:12586840] [PUBMED:11744733] [PUBMED:2010091] [PUBMED:20525283] [PUBMED:16698963]
Cellular response to hypoxia [NCBI:1270415] [REACTOME:R-HSA-2262749] [PUBMED:15304631]
Cellular responses to stress [NCBI:1270414] [REACTOME:R-HSA-2262752] [PUBMED:15709958]
Gene Expression [NCBI:1269649] [REACTOME:R-HSA-74160]
Generic Transcription Pathway [NCBI:1269650] [REACTOME:R-HSA-212436] [PUBMED:15175151] [PUBMED:14744435] [PUBMED:15680972] [PUBMED:11395415] [PUBMED:15896744] [PUBMED:10235266] [PUBMED:14986688] [PUBMED:12023297] [PUBMED:15680973] [PUBMED:16751179] [PUBMED:11861166] [PUBMED:16429119] [PUBMED:16719718] [PUBMED:16921404] [PUBMED:15690163]
HIF-1-alpha transcription factor network [NCBI:138045] [Pathway Interaction Database:hif1_tfpathway] [PUBMED:11707426] [PUBMED:9242677] [PUBMED:9038135] [PUBMED:15310764] [PUBMED:11278891] [PUBMED:8816435] [PUBMED:8663540] [PUBMED:15235127] [PUBMED:12042299] [PUBMED:15312748] [PUBMED:14612449] [PUBMED:11342587] [PUBMED:12615703] [PUBMED:9632793] [PUBMED:12228247] [PUBMED:15044468] [PUBMED:8408001] [PUBMED:9822602] [PUBMED:15252039] [PUBMED:13679920] [PUBMED:11877282] [PUBMED:15235597] [PUBMED:15199161] [PUBMED:15104534] [PUBMED:10594042] [PUBMED:12354771] [PUBMED:10446188] [PUBMED:9436976] [PUBMED:11823643] [PUBMED:12370277] [PUBMED:8955077] [PUBMED:12879018] [PUBMED:14645546] [PUBMED:9486205] [PUBMED:9887100] [PUBMED:8089148] [PUBMED:15466858] [PUBMED:11708773] [PUBMED:15611046] [PUBMED:14742449] [PUBMED:15280364] [PUBMED:12215445] [PUBMED:15611089] [PUBMED:10777486] [PUBMED:9707622] [PUBMED:8917528] [PUBMED:15563275] [PUBMED:12067980] [PUBMED:10353251]
HIF-2-alpha transcription factor network [NCBI:137956] [Pathway Interaction Database:hif2pathway] [PUBMED:10671489] [PUBMED:11983697] [PUBMED:11823643] [PUBMED:15039136] [PUBMED:19352007] [PUBMED:18356544] [PUBMED:17097563] [PUBMED:16740701] [PUBMED:19541651] [PUBMED:17873906] [PUBMED:12080085] [PUBMED:11292862] [PUBMED:16510872] [PUBMED:19498162] [PUBMED:10353251] [PUBMED:18625704] [PUBMED:15247232] [PUBMED:9079689] [PUBMED:19204094] [PUBMED:17322295] [PUBMED:17804822] [PUBMED:9113979] [PUBMED:12464608] [PUBMED:18434321] [PUBMED:15592504] [PUBMED:10878807] [PUBMED:17324924] [PUBMED:15192019] [PUBMED:9000051] [PUBMED:16611993] [PUBMED:10823831]
Mitophagy - animal [NCBI:1496831] [KEGG:hsa04137] [PUBMED:26611876] [PUBMED:27443527] [PUBMED:25995186] [PUBMED:25611507] [PUBMED:27021519] [PUBMED:25999423] [PUBMED:27701735] [PUBMED:26882551]
Regulation of Hypoxia-inducible Factor (HIF) by oxygen [NCBI:1270416] [REACTOME:R-HSA-1234174] [PUBMED:19704417] [PUBMED:20728359] [PUBMED:21335549] [PUBMED:19339544] [PUBMED:17916722] [PUBMED:18498744] [PUBMED:16724055] [PUBMED:20965423]
Regulation of gene expression by Hypoxia-inducible Factor [NCBI:1270419] [REACTOME:R-HSA-1234158] [PUBMED:9000051] [PUBMED:11959990] [PUBMED:7539918] [PUBMED:18187047] [PUBMED:8663540] [PUBMED:10202154] [PUBMED:14668441] [PUBMED:11063749] [PUBMED:9840812] [PUBMED:11959977] [PUBMED:9632793] [PUBMED:19788888] [PUBMED:9822602]
TFAP2 (AP-2) family regulates transcription of other transcription factors [NCBI:1427842] [REACTOME:R-HSA-8866906] [PUBMED:15475956] [PUBMED:22735262]
Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors [NCBI:1427839] [REACTOME:R-HSA-8864260] [PUBMED:2010091] [PUBMED:11744733] [PUBMED:24469049] [PUBMED:23382213] [PUBMED:19798054] [PUBMED:9162057] [PUBMED:21084835] [PUBMED:22735262] [PUBMED:21375726] [PUBMED:14744778] [PUBMED:10648798] [PUBMED:26832794] [PUBMED:24835590] [PUBMED:9687504] [PUBMED:20805990] [PUBMED:10497269] [PUBMED:16420676] [PUBMED:12072434] [PUBMED:9850080] [PUBMED:9182571] [PUBMED:8988173] [PUBMED:1998122] [PUBMED:22371483] [PUBMED:15870067] [PUBMED:12586840] [PUBMED:8895516] [PUBMED:7891714] [PUBMED:11694877] [PUBMED:19115315] [PUBMED:15475956] [PUBMED:25114211]