Gene Information

Gene Information
Gene Name	MYHCB
Organism	Homo sapiens (Human)
Gene Length	1935
Protein Names	Myosin-7 (Myosin heavy chain 7) (Myosin heavy chain slow isoform) (MyHC-slow) (Myosin heavy chain, cardiac muscle beta isoform) (MyHC-beta)
Target Name	NA
Target Type	NA
Gene Age	NA
Evolutionary Stage	NA
AlphaFoldDB	P12883
Gene Card	MYH7
Uniprot ID	P12883
Pfam	PF00063; PF02736; PF01576
In ASD	yes
Allosteric Prediction	NA
Ortholog in Animals	NA
Ohnologs	NA
Paralogs	NA
Tissue	NA
Tissue Specificity	Both wild type and variant Gln-403 are detected in skeletal muscle (at protein level). {ECO:0000269\|PubMed:8514894}.
Pharmacological Animal Models	NULL(Chimpanzee);NULL(Mouse);0.001000(Rat);0.015385(Rabbit)
Gene Ontology (biological process)
Gene Ontology (cellular component)
Gene Ontology (molecular function)
PDB	2FXM (X-ray 2.70A ) 2FXO (X-ray 2.50A ) 3DTP (EM 20.00A ) 4DB1 (X-ray 2.60A ) 4P7H (X-ray 3.20A ) 4PA0 (X-ray 2.25A ) 4XA1 (X-ray 3.20A ) 4XA3 (X-ray 2.55A ) 4XA4 (X-ray 2.33A ) 4XA6 (X-ray 3.42A ) 5CHX (X-ray 2.30A ) 5CJ0 (X-ray 2.30A ) 5CJ1 (X-ray 2.10A ) 5CJ4 (X-ray 3.10A ) 5TBY (EM 20.00A ) 5WJ7 (X-ray 2.50A ) 5WJB (X-ray 2.90A ) 5WLQ (X-ray 3.10A ) 5WLZ (X-ray 3.50A ) 5WME (X-ray 2.30A ) 6PF2 (X-ray 2.17A ) 6PFP (X-ray 2.20A )
DBSNP	rs3729993 rs186964570 rs376160714 rs771132107 rs2754166 rs397516183 rs1184284157 rs727503278 rs397516209 rs727503278 rs397516212 rs772691929 rs1057517771 rs786205906 rs1057517772 rs730880844 rs1159921588 rs1250974235 rs397516258 rs397516260 rs727504273 rs727503277 rs1060501445 rs121913645 rs1230432463 rs1302598456 rs267606910 rs730880849 rs3218713 rs121913633 rs730880855 rs397516269 rs397515482 rs1244223899 rs376897125 rs1459392243 rs121913640 rs730880864 rs397516088 rs1378946537 rs1275734785 rs121913624 rs121913624 rs3218714 rs730880867 rs730880867 rs1422611896 rs397516095 rs730880868 rs1428725625 rs397516097 rs727503266 rs1566535170 rs1484300349 rs397516098 rs121913653 rs1234112565 rs1403027088 rs1352198296 rs121913625 rs397516101 rs121913625 rs4981473 rs727504236 rs121913651 rs267606911 rs3218715 rs727504286 rs1288878100 rs1333791654 rs397516110 rs121913636 rs863224900 rs727504237 rs121913642 rs1188606962 rs730880879 rs727504238 rs121913626 rs121913626 rs1285747856 rs1381638438 rs1131691685 rs730880880 rs121913627 rs1164270609 rs121913646 rs1241603111 rs397516127 rs371898076 rs727503263 rs727504240 rs886039030 rs730880732 rs397516130 rs1224554825 rs121913638 rs121913641 rs121913637 rs121913630 rs121913630 rs121913644 rs1247313340 rs727504241 rs1173617248 rs863225097 rs727503261 rs121913632 rs121913632 rs786205907 rs397516139 rs730880735 rs727504253 rs121913643 rs727503260 rs1425960124 rs2069544 rs121913634 rs121913634 rs886039185 rs145677314 rs376754645 rs1222361739 rs3218716 rs730880742 rs1373092362 rs1278076805 rs397516149 rs730880748 rs397516155 rs397516157 rs2754158 rs2856897 rs730880750 rs730880750 rs202141173 rs138049878 rs36211715 rs1282663873 rs397516160 rs1314609309 rs397516161 rs1406848007 rs730880757 rs267606908 rs121913631 rs730880759 rs121913628 rs121913628 rs397516170 rs727503252 rs397516171 rs1131691514 rs121913639 rs121913629 rs1391622163 rs755392435 rs1298412196 rs397516179 rs1041961 rs1195446785 rs886039090 rs1170782159 rs397516190 rs758889483 rs141764279 rs727503246 rs45451303 rs397516201 rs397516202 rs730880910 rs201895208 rs145213771 rs397516208 rs1358268382 rs201307101 rs139646545 rs3729823 rs121913647 rs397516222 rs727505176 rs750987717 rs397516232 rs797044601 rs797044602 rs121913650 rs730880916 rs545585809 rs397516241 rs369437262 rs200939753 rs121913654 rs145734640 rs28933098 rs372381770 rs121913652 rs121913649 rs1343372308 rs730880918
Subcellular location [CC]	Cytoplasm, myofibril {ECO:0000250\|UniProtKB:P02564}. Cytoplasm, myofibril, sarcomere {ECO:0000250\|UniProtKB:P02564}. Note=Thick filaments of the myofibrils. {ECO:0000250\|UniProtKB:P02564}.
Mouse PG classification	NA
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