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Protein

Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 2

Gene

SOHLH2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

Probable transcription factor, which may be involved in spermatogenesis and oogenesis.By similarity

GO - Molecular functioni

  1. DNA binding Source: UniProtKB-KW

GO - Biological processi

  1. multicellular organismal development Source: UniProtKB-KW
  2. oogenesis Source: UniProtKB-KW
  3. regulation of transcription, DNA-templated Source: UniProtKB-KW
  4. spermatogenesis Source: UniProtKB-KW
  5. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, Oogenesis, Spermatogenesis, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 2
Gene namesi
Name:SOHLH2
Synonyms:TEB1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 13

Organism-specific databases

HGNCiHGNC:26026. SOHLH2.

Subcellular locationi

  1. Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

  1. nucleus Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA144596273.

Polymorphism and mutation databases

BioMutaiSOHLH2.
DMDMi166200297.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 425425Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 2PRO_0000315700Add
BLAST

Proteomic databases

MaxQBiQ9NX45.
PaxDbiQ9NX45.
PRIDEiQ9NX45.

PTM databases

PhosphoSiteiQ9NX45.

Expressioni

Gene expression databases

BgeeiQ9NX45.
CleanExiHS_SOHLH2.
GenevestigatoriQ9NX45.

Interactioni

Protein-protein interaction databases

BioGridi120277. 2 interactions.
IntActiQ9NX45. 1 interaction.
MINTiMINT-1469969.
STRINGi9606.ENSP00000369210.

Structurei

3D structure databases

ProteinModelPortaliQ9NX45.
SMRiQ9NX45. Positions 204-254.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini201 – 25252bHLHPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 1 bHLH (basic helix-loop-helix) domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG25623.
GeneTreeiENSGT00390000016050.
HOGENOMiHOG000070147.
HOVERGENiHBG103652.
InParanoidiQ9NX45.
OMAiLPQHCNS.
OrthoDBiEOG7HB59C.
PhylomeDBiQ9NX45.
TreeFamiTF336841.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR011598. bHLH_dom.
[Graphical view]
PfamiPF00010. HLH. 1 hit.
[Graphical view]
SMARTiSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiPS50888. BHLH. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9NX45-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MASSIICQEH CQISGQAKID ILLVGDVTVG YLADTVQKLF ANIAEVTITI
60 70 80 90 100
SDTKEAAALL DDCIFNMVLL KVPSSLSAEE LEAIKLIRFG KKKNTHSLFV
110 120 130 140 150
FIIPENFKGC ISGHGMDIAL TEPLTMEKMS NVVKYWTTCP SNTVKTENAT
160 170 180 190 200
GPEELGLPLQ RSYSEHLGYF PTDLFACSES LRNGNGLELN ASLSEFEKNK
210 220 230 240 250
KISLLHSSKE KLRRERIKYC CEQLRTLLPY VKGRKNDAAS VLEATVDYVK
260 270 280 290 300
YIREKISPAV MAQITEALQS NMRFCKKQQT PIELSLPGTV MAQRENSVMS
310 320 330 340 350
TYSPERGLQF LTNTCWNGCS TPDAESSLDE AVRVPSSSAS ENAIGDPYKT
360 370 380 390 400
HISSAALSLN SLHTVRYYSK VTPSYDATAV TNQNISIHLP SAMPPVSKLL
410 420
PRHCTSGLGQ TCTTHPNCLQ QFWAY
Length:425
Mass (Da):46,941
Last modified:January 15, 2008 - v2
Checksum:iA104DDC11ABD241E
GO
Isoform 2 (identifier: Q9NX45-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     215-225: ERIKYCCEQLR → LYRKHSSFCFW
     226-425: Missing.

Note: No experimental confirmation available.

Show »
Length:225
Mass (Da):25,058
Checksum:iB6A72EB05C440E07
GO
Isoform 3 (identifier: Q9NX45-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-16: MASSIICQEHCQISGQ → METLQESLNT...LLKEELDPLK

Note: No experimental confirmation available.

Show »
Length:502
Mass (Da):56,199
Checksum:iE34FE232749ABFB5
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti211 – 2111K → N in BAA91175 (PubMed:14702039).Curated
Sequence conflicti211 – 2111K → N in AAW78547 (Ref. 5) Curated
Sequence conflicti312 – 3121T → A in BAA91175 (PubMed:14702039).Curated
Sequence conflicti312 – 3121T → A in AAW78547 (Ref. 5) Curated
Sequence conflicti403 – 4031H → Y in BAA91175 (PubMed:14702039).Curated
Sequence conflicti403 – 4031H → Y in AAW78547 (Ref. 5) Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti14 – 141S → L.
Corresponds to variant rs12873478 [ dbSNP | Ensembl ].
VAR_038283
Natural varianti339 – 3391A → T.
Corresponds to variant rs2296968 [ dbSNP | Ensembl ].
VAR_038284

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 1616MASSI…QISGQ → METLQESLNTLLKQLEEEKK TLESQVKYYALKLEQESKAY QKINNERRTYLAEMSQGSGL HQVSKRQQVDQLPRMQENLV KTLLLKEELDPLK in isoform 3. 1 PublicationVSP_042423Add
BLAST
Alternative sequencei215 – 22511ERIKYCCEQLR → LYRKHSSFCFW in isoform 2. 1 PublicationVSP_030652Add
BLAST
Alternative sequencei226 – 425200Missing in isoform 2. 1 PublicationVSP_030653Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000456 mRNA. Translation: BAA91175.1.
AK301863 mRNA. Translation: BAG63302.1.
AL139377 Genomic DNA. No translation available.
AL160392 Genomic DNA. Translation: CAC42466.1.
CH471075 Genomic DNA. Translation: EAX08554.1.
CH471075 Genomic DNA. Translation: EAX08555.1.
BC025383 mRNA. Translation: AAH25383.1.
AY884305 mRNA. Translation: AAW78547.1.
CCDSiCCDS61309.1. [Q9NX45-2]
CCDS9355.1. [Q9NX45-1]
RefSeqiNP_001185839.1. NM_001198910.1. [Q9NX45-3]
NP_001269076.1. NM_001282147.1. [Q9NX45-2]
NP_060296.2. NM_017826.2. [Q9NX45-1]
UniGeneiHs.124519.

Genome annotation databases

EnsembliENST00000317764; ENSP00000326838; ENSG00000120669. [Q9NX45-2]
ENST00000379881; ENSP00000369210; ENSG00000120669. [Q9NX45-1]
GeneIDi100526761.
54937.
KEGGihsa:100526761.
hsa:54937.
UCSCiuc001uvj.3. human. [Q9NX45-1]
uc010tei.2. human. [Q9NX45-3]

Polymorphism and mutation databases

BioMutaiSOHLH2.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000456 mRNA. Translation: BAA91175.1.
AK301863 mRNA. Translation: BAG63302.1.
AL139377 Genomic DNA. No translation available.
AL160392 Genomic DNA. Translation: CAC42466.1.
CH471075 Genomic DNA. Translation: EAX08554.1.
CH471075 Genomic DNA. Translation: EAX08555.1.
BC025383 mRNA. Translation: AAH25383.1.
AY884305 mRNA. Translation: AAW78547.1.
CCDSiCCDS61309.1. [Q9NX45-2]
CCDS9355.1. [Q9NX45-1]
RefSeqiNP_001185839.1. NM_001198910.1. [Q9NX45-3]
NP_001269076.1. NM_001282147.1. [Q9NX45-2]
NP_060296.2. NM_017826.2. [Q9NX45-1]
UniGeneiHs.124519.

3D structure databases

ProteinModelPortaliQ9NX45.
SMRiQ9NX45. Positions 204-254.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120277. 2 interactions.
IntActiQ9NX45. 1 interaction.
MINTiMINT-1469969.
STRINGi9606.ENSP00000369210.

PTM databases

PhosphoSiteiQ9NX45.

Polymorphism and mutation databases

BioMutaiSOHLH2.
DMDMi166200297.

Proteomic databases

MaxQBiQ9NX45.
PaxDbiQ9NX45.
PRIDEiQ9NX45.

Protocols and materials databases

DNASUi54937.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000317764; ENSP00000326838; ENSG00000120669. [Q9NX45-2]
ENST00000379881; ENSP00000369210; ENSG00000120669. [Q9NX45-1]
GeneIDi100526761.
54937.
KEGGihsa:100526761.
hsa:54937.
UCSCiuc001uvj.3. human. [Q9NX45-1]
uc010tei.2. human. [Q9NX45-3]

Organism-specific databases

CTDi100526761.
54937.
GeneCardsiGC13M036742.
HGNCiHGNC:26026. SOHLH2.
MIMi616066. gene.
neXtProtiNX_Q9NX45.
PharmGKBiPA144596273.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG25623.
GeneTreeiENSGT00390000016050.
HOGENOMiHOG000070147.
HOVERGENiHBG103652.
InParanoidiQ9NX45.
OMAiLPQHCNS.
OrthoDBiEOG7HB59C.
PhylomeDBiQ9NX45.
TreeFamiTF336841.

Miscellaneous databases

ChiTaRSiSOHLH2. human.
NextBioi58058.
PROiQ9NX45.
SOURCEiSearch...

Gene expression databases

BgeeiQ9NX45.
CleanExiHS_SOHLH2.
GenevestigatoriQ9NX45.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR011598. bHLH_dom.
[Graphical view]
PfamiPF00010. HLH. 1 hit.
[Graphical view]
SMARTiSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiPS50888. BHLH. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "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] (ISOFORMS 1 AND 3).
    Tissue: Testis.
  2. "The DNA sequence and analysis of human chromosome 13."
    Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.
    Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. 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] (ISOFORM 2).
    Tissue: Testis.
  5. "Identification and functional characterization of two novel bHLH family members."
    Smas C.M.
    Submitted (JAN-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 24-425 (ISOFORM 1).

Entry informationi

Entry nameiSOLH2_HUMAN
AccessioniPrimary (citable) accession number: Q9NX45
Secondary accession number(s): B4DX90
, Q5EGC3, Q8TC74, Q96QX4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: January 15, 2008
Last modified: April 29, 2015
This is version 101 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.