IGHMBP2

IGHMBP2
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 1MSZ, 2LRR, 4B3F, 4B3G
Dynodwyr
Cyfenwau	IGHMBP2, CATF1, HCSA, HMN6, SMARD1, SMUBP2, ZFAND7, CMT2S, immunoglobulin mu binding protein 2, immunoglobulin mu DNA binding protein 2
Dynodwyr allanol	OMIM: 600502 HomoloGene: 1642 GeneCards: IGHMBP2
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • DNA binding • nucleotide binding • ATP-dependent activity, acting on DNA • GO:0043141 5'-3' DNA helicase activity • GO:0008026 helicase activity • GO:0032575 5'-3' RNA helicase activity • ribosome binding • tRNA binding • zinc ion binding • transcription factor binding • metal ion binding • single-stranded DNA binding • GO:0004003 DNA helicase activity • GO:0001948, GO:0016582 protein binding • RNA binding • nucleic acid binding • hydrolase activity • ATP binding • ATP-dependent activity, acting on RNA Cydrannau o'r gell • cytoplasm • cell projection • bilen • growth cone • SMN complex • axon • cnewyllyn cell • ribonucleoprotein complex Prosesau biolegol • DNA recombination • GO:0009373 regulation of transcription, DNA-templated • transcription, DNA-templated • DNA replication • protein homooligomerization • GO:0100026 DNA repair • DNA duplex unwinding • protein biosynthesis Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	3508	n/a
Ensembl	ENSG00000132740	n/a
UniProt	P38935	n/a
RefSeq (mRNA)	NM_002180	n/a
RefSeq (protein)	NP_002171	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search		n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn IGHMBP2 yw IGHMBP2 a elwir hefyd yn Immunoglobulin mu binding protein 2 (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn blaen o gromosom dynol 11, band 11q13.3.

Cyfystyron

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn IGHMBP2.

• HCSA
• HMN6
• CATF1
• CMT2S
• SMARD1
• SMUBP2
• ZFAND7

Llyfryddiaeth

• "Infantile spinal muscular atrophy with respiratory distress type I presenting without respiratory involvement: Novel mutations and review of the literature. ". Brain Dev. 2016. PMID 26922252.
• "Recessive hereditary motor and sensory neuropathy caused by IGHMBP2 gene mutation. ". Neurology. 2015. PMID 26136520.
• "[IGHMBP2 overexpression promotes cell migration and invasion in esophageal squamous carcinoma]. ". Yi Chuan. 2015. PMID 25881701.
• "Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy. ". Neurology. 2015. PMID 25568292.
• "Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.". Am J Hum Genet. 2014. PMID 25439726.