Gene: HAND2

Basic information

Tag Content
Uniprot ID A0A287BKC6
Entrez ID
Genbank protein ID HDA49120.1
Genbank nucleotide ID
Ensembl protein ID ENSSSCP00000056856
Ensembl nucleotide ID ENSSSCG00000031537
Gene name Heart and neural crest derivatives expressed 2
Gene symbol HAND2
Organism Sus scrofa
NCBI taxa ID 9823
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description
Sequence
MSLVGGFPHH PVVHHEGYPF AAAAAAAAAA AASRCSHEEN PYFHGWLIGH PEMSPPDYSM 60
ALSYSPEYAS GAASLDHSHY GGVPPGAGPP GLGGPRPVKR RGTANRKERR RTQSINSAFA 120
ELRECIPNVP ADTKLSKIKT LRLATSYIAY LMDLLAKDDQ NGEAEAFKAE IKKTDVKEEK 180
RKKELNEILK STVSSNDKKT KGRTGWPQHV WALELKQ 217

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologHAND2102171973A0A452ECE7Capra hircusPredictionMore>>
1:1 orthologHAND29464P61296Homo sapiensPredictionMore>>
1:1 orthologHand215111Q61039CPOE14.5Mus musculusPublicationMore>>
1:1 orthologHAND2741581H2R7W4Pan troglodytesPredictionMore>>
1:1 orthologHAND2A0A287BKC6Sus scrofaPredictionMore>>
1:1 orthologHand2A0A0G2K7Q4Rattus norvegicusPredictionMore>>
1:1 orthologhand258150A2BDM6Danio rerioPredictionMore>>

Gene ontology

GO ID GO Term
GO:0000790 nuclear chromatin
GO:0005634 nucleus
GO:0005667 transcription factor complex
GO:0003680 AT DNA binding
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0070888 E-box binding
GO:0042803 protein homodimerization activity
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding
GO:0008134 transcription factor binding
GO:0007512 adult heart development
GO:0003278 apoptotic process involved in heart morphogenesis
GO:0003253 cardiac neural crest cell migration involved in outflow tract morphogenesis
GO:0003219 cardiac right ventricle formation
GO:0060536 cartilage morphogenesis
GO:0061325 cell proliferation involved in outflow tract morphogenesis
GO:0060982 coronary artery morphogenesis
GO:0042733 embryonic digit morphogenesis
GO:0007507 heart development
GO:0001947 heart looping
GO:0001701 in utero embryonic development
GO:0010463 mesenchymal cell proliferation
GO:0010667 negative regulation of cardiac muscle cell apoptotic process
GO:0043392 negative regulation of DNA binding
GO:0043433 negative regulation of DNA-binding transcription factor activity
GO:0010629 negative regulation of gene expression
GO:0045668 negative regulation of osteoblast differentiation
GO:0042475 odontogenesis of dentin-containing tooth
GO:0048935 peripheral nervous system neuron development
GO:0010613 positive regulation of cardiac muscle hypertrophy
GO:0070374 positive regulation of ERK1 and ERK2 cascade
GO:1900745 positive regulation of p38MAPK cascade
GO:2000764 positive regulation of semaphorin-plexin signaling pathway involved in outflow tract morphogenesis
GO:2000763 positive regulation of transcription from RNA polymerase II promoter involved in norepinephrine biosynthetic process
GO:2000679 positive regulation of transcription regulatory region DNA binding
GO:1903929 primary palate development
GO:0003266 regulation of secondary heart field cardioblast proliferation
GO:0034103 regulation of tissue remodeling
GO:0006357 regulation of transcription by RNA polymerase II
GO:0001967 suckling behavior
GO:0048485 sympathetic nervous system development
GO:0048538 thymus development
GO:0043586 tongue development
GO:0061032 visceral serous pericardium development

Functional annotations

Keywords

Keyword ID Keyword Term
KW-1185 Reference proteome

Interpro

InterPro ID InterPro Term
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf

PROSITE

PROSITE ID PROSITE Term
PS50888 BHLH

Pfam

Pfam ID Pfam Term
PF00010 HLH