TCF12
entrez
6938
canonical
uniprot
Q99081
canonical
ensembl
ENSG00000140262
resolver
ensp
ENSP00000267811
resolver
ensp
ENSP00000331057
resolver
ensp
ENSP00000342459
resolver
ensp
ENSP00000388940
resolver
ensp
ENSP00000440017
resolver
ensp
ENSP00000444696
resolver
ensp
ENSP00000453737
resolver
ensp
ENSP00000558380
resolver
ensp
ENSP00000558383
resolver
ensp
ENSP00000558388
resolver
ensp
ENSP00000558390
resolver
ensp
ENSP00000558391
resolver
ensp
ENSP00000604253
resolver
ensp
ENSP00000604258
resolver
ensp
ENSP00000616045
resolver
ensp
ENSP00000616051
resolver
enst
ENST00000543579
resolver
genesymbol
TCF12
resolver
genesymbol_syn
BHLHB20
resolver
genesymbol_syn
HEB
resolver
genesymbol_syn
HTF4
resolver
hgnc
HGNC:11623
resolver
uniprot
B4E1W1
resolver
uniprot
F5GY10
resolver
uniprot
Q7Z3D9
resolver
uniprot
Q86TC1
resolver
uniprot
Q86VM2
resolver
uniprot_entry
F5GY10_HUMAN
resolver
uniprot_entry
HTF4_HUMAN
resolver
uniprot_sec
B4E1W1
resolver
uniprot_sec
Q7Z3D9
resolver
uniprot_sec
Q86TC1
resolver
uniprot_sec
Q86VM2
resolver
amino_acid_sequence
MNPQQQRMAAIGTDKELSDLLDFSAMFSPPVNSGKTRPTTLGSSQFSGSGIDERGGTTSWGTSGQPSPSYDSSRGFTDSPHYSDHLNDSRLGAHEGLSPTPFMNSNLMGKTSERGSFSLYSRDTGLPGCQSSLLRQDLGLGSPAQLSSSGKPGTAYYSFSATSSRRRPLHDSAALDPLQAKKVRKVPPGLPSSVYAPSPNSDDFNRESPSYPSPKPPTSMFASTFFMQDGTHNSSDLWSSSNGMSQPGFGGILGTSTSHMSQSSSYGNLHSHDRLSYPPHSVSPTDINTSLPPMSSFHRGSTSSSPYVAASHTPPINGSDSILGTRGNAAGSSQTGDALGKALASIYSPDHTSSSFPSNPSTPVGSPSPLTGTSQWPRPGGQAPSSPSYENSLHSLQSRMEDRLDRLDDAIHVLRNHAVGPSTSLPAGHSDIHSLLGPSHNAPIGSLNSNYGGSSLVASSRSASMVGTHREDSVSLNGNHSVLSSTVTTSSTDLNHKTQENYRGGLQSQSGTVVTTEIKTENKEKDENLHEPPSSDDMKSDDESSQKDIKVSSRGRTSSTNEDEDLNPEQKIEREKERRMANNARERLRVRDINEAFKELGRMCQLHLKSEKPQTKLLILHQAVAVILSLEQQVRERNLNPKAACLKRREEEKVSAVSAEPPTTLPGTHPGLSETTNPMGHM
uniprot
proteins
disease_involvement
DISEASE: Craniosynostosis 3 (CRS3) [MIM:615314]: A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability. {ECO:0000269|PubMed:23354436, ECO:0000269|PubMed:25271085}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Hypogonadotropic hypogonadism 26 with or without anosmia (HH26) [MIM:619718]: A form of hypogonadotropic hypogonadism, a group of disorders characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone, and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). HH26 is characterized by micropenis and cryptorchidism at birth in male patients, and absent puberty and anosmia in male or female patients. Some affected individuals also exhibit craniosynostosis. Inheritance can be autosomal dominant or autosomal recessive. {ECO:0000269|PubMed:32620954}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcriptional regulator. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3') (By similarity). May be involved in the functional network that regulates the development of the GnRH axis (PubMed:32620954). {ECO:0000250|UniProtKB:Q61286, ECO:0000269|PubMed:32620954}.
uniprot
proteins
mass_dalton
72965
uniprot
proteins
mutagenesis
MUTAGEN 187; /note="P->A: Decreases interaction with RUNX1T1."; /evidence="ECO:0000269|PubMed:23812588"; MUTAGEN 191; /note="P->A: Decreases interaction with RUNX1T1."; /evidence="ECO:0000269|PubMed:23812588"; MUTAGEN 192; /note="S->A: Decreases interaction with RUNX1T1."; /evidence="ECO:0000269|PubMed:23812588
uniprot
proteins
pubmed
12826747
uniprot
proteins
pubmed
1312219
uniprot
proteins
pubmed
1446075
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
16616331
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
17467953
uniprot
proteins
pubmed
17525332
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18220336
uniprot
proteins
pubmed
18456661
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
1886779
uniprot
proteins
pubmed
19204326
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23354436
uniprot
proteins
pubmed
23812588
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25218447
uniprot
proteins
pubmed
25271085
uniprot
proteins
pubmed
25466284
uniprot
proteins
pubmed
25755297
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
32620954
uniprot
proteins
sequence_length
682
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus.
uniprot
proteins