Q12837 (PO4F2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
POU domain, class 4, transcription factor 2

Alternative name(s):
Brain-specific homeobox/POU domain protein 3B
Short name=Brain-3B
Short name=Brn-3B

Gene names

Name:	POU4F2
Synonyms:	BRN3B

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	409 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Transcription factor. May play a role in determining or maintaining the identities of a small subset of visual system neurons.
Subcellular location	Nucleus speckle Ref.5.
Tissue specificity	Brain. Seems to be specific to the retina.
Domain	The polyhistidine repeat acts as a targeting signal to nuclear speckles (Ref.5).
Sequence similarities	Belongs to the POU transcription factor family. Class-4 subfamily. Contains 1 homeobox DNA-binding domain. Contains 1 POU-specific domain.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Domain	Homeobox
Ligand	DNA-binding
Molecular function	Activator
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	MAPK cascade Inferred from direct assay PubMed 21241485. Source: UniProtKB axon guidance Inferred from sequence or structural similarity. Source: UniProtKB intracellular estrogen receptor signaling pathway Inferred from direct assay PubMed 21241485. Source: UniProtKB neuromuscular process controlling balance Inferred from electronic annotation. Source: Compara positive regulation of cell differentiation Inferred from sequence or structural similarity. Source: UniProtKB retina development in camera-type eye Inferred from sequence or structural similarity. Source: UniProtKB retinal ganglion cell axon guidance Inferred from electronic annotation. Source: Compara sensory perception of sound Inferred from electronic annotation. Source: Compara
Cellular_component	nuclear speck Inferred from electronic annotation. Source: UniProtKB-SubCell nucleus Inferred from sequence or structural similarity. Source: UniProtKB
Molecular_function	RNA polymerase II core promoter proximal region sequence-specific DNA binding Inferred from direct assay PubMed 21241485. Source: UniProtKB RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription Inferred from sequence or structural similarity. Source: UniProtKB RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Inferred from direct assay PubMed 21241485. Source: UniProtKB chromatin binding Inferred from electronic annotation. Source: Compara
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 409	409	POU domain, class 4, transcription factor 2		PRO_0000100740
Regions
	Domain	250 – 327	78	POU-specific
	DNA binding	345 – 404	60	Homeobox
	Motif	110 – 119	10	POU-IV box
	Compositional bias	1 – 4	4	Poly-Met
	Compositional bias	43 – 51	9	Poly-Ser
	Compositional bias	54 – 68	15	Poly-Gly
	Compositional bias	70 – 79	10	Poly-Ser
	Compositional bias	80 – 83	4	Poly-Gly
	Compositional bias	126 – 129	4	Poly-His
	Compositional bias	155 – 158	4	Poly-Ser
	Compositional bias	171 – 182	12	Poly-His
Natural variations
	Natural variant	40	1	I → T. Corresponds to variant rs13152799 [ dbSNP | Ensembl ].		VAR_059321
Experimental info
	Mutagenesis	171 – 185	15	Missing: Absent from nuclear speckle; no change in transcriptional activity. Ref.5
	Sequence conflict	54	1	G → GG in AAA16509. Ref.1
	Sequence conflict	54	1	G → GG in BAG37481. Ref.2
	Sequence conflict	54	1	G → GG in AAI36345. Ref.2
	Sequence conflict	54	1	G → GG in AAI36346. Ref.2
	Sequence conflict	165	1	S → C in AAA16509. Ref.1
	Sequence conflict	182	1	Missing in CAA50589. Ref.6

Sequences

	Sequence		Length	Mass (Da)
	Q12837 [UniParc]. Last modified March 2, 2010. Version 2. Checksum: 42E2C174674E8DFC	FASTA	409	43,087
	10 20 30 40 50 60 MMMMSLNSKQ AFSMPHGGSL HVEPKYSALH STSPGSSAPI APSASSPSSS SNAGGGGGGG 70 80 90 100 110 120 GGGGGGGGRS SSSSSSGSSG GGGSEAMRRA CLPTPPSNIF GGLDESLLAR AEALAAVDIV 130 140 150 160 170 180 SQSKSHHHHP PHHSPFKPDA TYHTMNTIPC TSAASSSSVP ISHPSALAGT HHHHHHHHHH 190 200 210 220 230 240 HHQPHQALEG ELLEHLSPGL ALGAMAGPDG AVVSTPAHAP HMATMNPMHQ AALSMAHAHG 250 260 270 280 290 300 LPSHMGCMSD VDADPRDLEA FAERFKQRRI KLGVTQADVG SALANLKIPG VGSLSQSTIC 310 320 330 340 350 360 RFESLTLSHN NMIALKPILQ AWLEEAEKSH REKLTKPELF NGAEKKRKRT SIAAPEKRSL 370 380 390 400 EAYFAIQPRP SSEKIAAIAE KLDLKKNVVR VWFCNQRQKQ KRMKYSAGI

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Brn-3b: a POU domain gene expressed in a subset of retinal ganglion cells." Xiang M., Zhou L.-J., Peng Y., Eddy R.L., Shows T.B., Nathans J. Neuron 11:689-701(1993) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Retina.
[2]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Testis.
[3]	"Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K. Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Testis.
[5]	"Genome-wide analysis of histidine repeats reveals their role in the localization of human proteins to the nuclear speckles compartment." Salichs E., Ledda A., Mularoni L., Alba M.M., de la Luna S. PLoS Genet. 5:E1000397-E1000397(2009) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 7-409, SUBCELLULAR LOCATION, MUTAGENESIS OF 171-HIS--HIS-185. Tissue: Testis.
[6]	"The human Brn-3b POU transcription factor shows only limited homology to the Brn-3a/RDC-1 factor outside the conserved POU domain." Ring C.J.A., Latchman D.S. Nucleic Acids Res. 21:2946-2946(1993) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 145-409. Tissue: Testis.
[7]	"Differential expression of four members of the POU family of proteins in activated and phorbol 12-myristate 13-acetate-treated Jurkat T cells." Bhargava A.K., Li Z., Weissman S.M. Proc. Natl. Acad. Sci. U.S.A. 90:10260-10264(1993) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 274-391.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	U06233 mRNA. Translation: AAA16509.1. AK314982 mRNA. Translation: BAG37481.1. AC093887 Genomic DNA. No translation available. BC136344 mRNA. Translation: AAI36345.1. BC136345 mRNA. Translation: AAI36346.1. EU439706 mRNA. Translation: ACA49233.1. X71488 mRNA. Translation: CAA50589.1. L20434 mRNA. Translation: AAA36393.1.
IPI	IPI00029713.
PIR	I38502.
RefSeq	NP_004566.2. NM_004575.2.
UniGene	Hs.266.
3D structure databases
ProteinModelPortal	Q12837.
SMR	Q12837. Positions 254-403.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000281321.
PTM databases
PhosphoSite	Q12837.
Polymorphism databases
DMDM	290457652.
Proteomic databases
PaxDb	Q12837.
PRIDE	Q12837.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000281321; ENSP00000281321; ENSG00000151615.
GeneID	5458.
KEGG	hsa:5458.
UCSC	uc003ikv.3. human.
Organism-specific databases
CTD	5458.
GeneCards	GC04P147560.
H-InvDB	HIX0031516.
HGNC	HGNC:9219. POU4F2.
MIM	113725. gene.
neXtProt	NX_Q12837.
PharmGKB	PA33543.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG289030.
HOGENOM	HOG000116305.
HOVERGEN	HBG031829.
InParanoid	Q12837.
KO	K09366.
OMA	PSNIFGG.
OrthoDB	EOG42RD7X.
PhylomeDB	Q12837.
Gene expression databases
Bgee	Q12837.
CleanEx	HS_POU4F2.
Genevestigator	Q12837.
GermOnline	ENSG00000151615. Homo sapiens.
Family and domain databases
Gene3D	1.10.10.60. 1 hit. 1.10.260.40. 1 hit.
InterPro	IPR017970. Homeobox_CS. IPR001356. Homeodomain. IPR009057. Homeodomain-like. IPR010982. Lambda_DNA-bd_dom. IPR013847. POU. IPR000327. POU_specific. [Graphical view]
Pfam	PF00046. Homeobox. 1 hit. PF00157. Pou. 1 hit. [Graphical view]
PRINTS	PR00028. POUDOMAIN.
SMART	SM00389. HOX. 1 hit. SM00352. POU. 1 hit. [Graphical view]
SUPFAM	SSF46689. Homeodomain_like. 1 hit. SSF47413. Lambda_like_DNA. 1 hit.
PROSITE	PS00027. HOMEOBOX_1. 1 hit. PS50071. HOMEOBOX_2. 1 hit. PS00035. POU_1. 1 hit. PS00465. POU_2. 1 hit. PS51179. POU_3. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	5458.
NextBio	21127.
SOURCE	Search...

Entry information

Entry name

PO4F2_HUMAN

Accession

Primary (citable) accession number: Q12837
Secondary accession number(s): B1PJR6 , B2RC84, Q13883, Q14987

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	March 2, 2010
Last modified:	May 1, 2013
This is version 125 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.