DISEASES

Disease-gene associations mined from literature

Literature on TFCP2L1

TFCP2L1 [ENSP00000263707]

Transcription factor CP2-like protein 1; Transcription factor that facilitates establishment and maintenance of pluripotency in embryonic stem cells (ESCs) . With KLF2, acts as the major effector of self-renewal that mediates induction of pluripotency downstream of LIF/STAT3 and Wnt/beta-catenin signaling (By similarity). Required for normal duct development in the salivary gland and kidney (By similarity). Coordinates the development of the kidney collecting ducts intercalated (IC) and principal (PC) cells, which regulate acid- base and salt-water homeostasis, respectively (By similarity). Regulates the expression of IC genes including subunits B1 and D2 of the V-ATPase complex, OXGR1, CA12, SLC4A1, AQP6 and IC-specific transcription factor FOXI1 (By similarity). Regulates also the expression of JAG1 and subsequent notch signaling in the collecting duct (By similarity). JAG1 initiates notch signaling in PCs but inhibits notch signaling in ICs (By similarity). Acts as a transcriptional suppressor that may suppress UBP1-mediated transcriptional activation (By similarity). Modulates the placental expression of CYP11A1 . ECO:0000269|PubMed:10644752, ECO:0000269|PubMed:25215486,; Belongs to the grh/CP2 family. CP2 subfamily.

Synonyms:  TFCP2L1,  TFCP2L1p,  hTFCP2L1,  Q9NZI6,  Q9NZI6p ...

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