IGHMBP2

Protein-coding gene in the species Homo sapiens

IGHMBP2

Available structures

PDB

Ortholog search: PDBe RCSB

List of PDB id codes
1MSZ, 2LRR, 4B3F, 4B3G

Identifiers

Aliases

IGHMBP2, CATF1, HCSA, HMN6, SMARD1, SMUBP2, ZFAND7, CMT2S, immunoglobulin mu binding protein 2, immunoglobulin mu DNA binding protein 2

External IDs

OMIM: 600502; MGI: 99954; HomoloGene: 1642; GeneCards: IGHMBP2; OMA:IGHMBP2 - orthologs

Gene location (Human)

Chr.	Chromosome 11 (human)^[1]

Band	11q13.3	Start	68,903,863 bp^[1]
Band	11q13.3	End	68,940,602 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 19 (mouse)^[2]

Band	19 A\|19 3.03 cM	Start	3,309,076 bp^[2]
Band	19 A\|19 3.03 cM	End	3,333,017 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

gastric mucosa

body of uterus

popliteal artery

tibial arteries

muscle layer of sigmoid colon

ascending aorta

sural nerve

right coronary artery

left coronary artery

canal of the cervix

Top expressed in

lumbar spinal ganglion

otic vesicle

Rostral migratory stream

saccule

urethra

male urethra

tail of embryo

ventricular zone

spermatocyte

muscle of thigh

More reference expression data

BioGPS


More reference expression data

Gene ontology
Molecular function	DNA binding nucleotide binding ATP-dependent activity, acting on DNA 5'-3' DNA helicase activity helicase activity 5'-3' RNA helicase activity ribosome binding tRNA binding zinc ion binding transcription factor binding metal ion binding single-stranded DNA binding DNA helicase activity protein binding RNA binding nucleic acid binding hydrolase activity ATP binding ATP-dependent activity, acting on RNA
Cellular component	cytoplasm cell projection membrane growth cone SMN complex axon nucleus ribonucleoprotein complex
Biological process	DNA recombination regulation of transcription, DNA-templated transcription, DNA-templated DNA replication protein homooligomerization DNA repair DNA duplex unwinding protein biosynthesis
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


3508


20589

Ensembl


ENSG00000132740


ENSMUSG00000024831

UniProt


P38935


P40694

RefSeq (mRNA)


NM_002180


NM_009212

RefSeq (protein)


NP_002171


n/a

Location (UCSC)

Chr 11: 68.9 – 68.94 Mb

Chr 19: 3.31 – 3.33 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

DNA-binding protein SMUBP-2, also known as immunoglobulin helicase μ-binding protein 2 (IGHMBP2) and cardiac transcription factor 1 (CATF1) – is a protein that in humans is encoded by the IGHMBP2 gene.^[5]^[6]

Mutations in the IGHMBP2 gene cause distal spinal muscular atrophy type 1 (distal hereditary motor neuropathy type VI).^[7]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000132740 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000024831 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Fukita Y, Mizuta TR, Shirozu M, Ozawa K, Shimizu A, Honjo T (August 1993). "The human S mu bp-2, a DNA-binding protein specific to the single-stranded guanine-rich sequence related to the immunoglobulin mu chain switch region". The Journal of Biological Chemistry. 268 (23): 17463–70. doi:10.1016/S0021-9258(19)85357-7. PMID 8349627.
^ "Entrez Gene: IGHMBP2 immunoglobulin mu binding protein 2".
^ Grohmann K, Schuelke M, Diers A, Hoffmann K, Lucke B, Adams C, Bertini E, Leonhardt-Horti H, Muntoni F, Ouvrier R, Pfeufer A, Rossi R, Van Maldergem L, Wilmshurst JM, Wienker TF, Sendtner M, Rudnik-Schöneborn S, Zerres K, Hübner C (September 2001). "Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1". Nature Genetics. 29 (1): 75–7. doi:10.1038/ng703. PMID 11528396. S2CID 7028396.

Ohtsubo S, Iida A, Nitta K, Tanaka T, Yamada R, Ohnishi Y, Maeda S, Tsunoda T, Takei T, Obara W, Akiyama F, Ito K, Honda K, Uchida K, Tsuchiya K, Yumura W, Ujiie T, Nagane Y, Miyano S, Suzuki Y, Narita I, Gejyo F, Fujioka T, Nihei H, Nakamura Y (2004). "Association of a single-nucleotide polymorphism in the immunoglobulin mu-binding protein 2 gene with immunoglobulin A nephropathy". Journal of Human Genetics. 50 (1): 30–5. doi:10.1007/s10038-004-0214-8. PMID 15599641.
Tachi N, Kikuchi S, Kozuka N, Nogami A (April 2005). "A new mutation of IGHMBP2 gene in spinal muscular atrophy with respiratory distress type 1". Pediatric Neurology. 32 (4): 288–90. doi:10.1016/j.pediatrneurol.2004.11.003. PMID 15797190.
Maystadt I, Zarhrate M, Landrieu P, Boespflug-Tanguy O, Sukno S, Collignon P, Melki J, Verellen-Dumoulin C, Munnich A, Viollet L (May 2004). "Allelic heterogeneity of SMARD1 at the IGHMBP2 locus". Human Mutation. 23 (5): 525–6. doi:10.1002/humu.9241. PMID 15108294. S2CID 39222622.
Guenther UP, Schuelke M, Bertini E, D'Amico A, Goemans N, Grohmann K, Hübner C, Varon R (September 2004). "Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1". Human Genetics. 115 (4): 319–26. doi:10.1007/s00439-004-1156-0. PMID 15290238. S2CID 24478377.
Shen J, Terry MB, Gammon MD, Gaudet MM, Teitelbaum SL, Eng SM, Sagiv SK, Neugut AI, Santella RM (September 2006). "IGHMBP2 Thr671Ala polymorphism might be a modifier for the effects of cigarette smoking and PAH-DNA adducts to breast cancer risk". Breast Cancer Research and Treatment. 99 (1): 1–7. doi:10.1007/s10549-006-9174-3. PMID 16752224. S2CID 9625880.